Total 11791 pathogenic variants reported for Hereditary breast ovarian cancer syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000051.4(ATM):c.496+5G>A SNV
Germline		 Chr11:108235839 Pathogenic/Likely pathogenic Ataxia - telangiectasia variant
Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115952 rs_796051858

11 SubmittersRCV000003188RCV000235952RCV000213739RCV000558736RCV001249854RCV003466791
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) SNV
Germline/somatic		 Chr22:28734468 Conflicting classifications of pathogenicity Bone osteosarcoma
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA117633 rs_17883862

25 SubmittersRCV000005942RCV000120551RCV000132520RCV000196893RCV000513573RCV001355309RCV001797994RCV002225260
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) SNV
Germline		 Chr22:28725027 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 2
Malignant tumor of prostate
Familial cancer of breast
Bone osteosarcoma
not specified
Malignant tumor of breast
Li-Fraumeni syndrome 2
Breast and/or ovarian cancer
Malignant tumor of prostate
CHEK2-related cancer predisposition		 Criteria Provided
Conflicting Classifications
 CA117641 rs_121908701

20 SubmittersRCV000114761RCV000129670RCV000233960RCV001030688RCV000765623RCV001193685RCV001357854RCV001294022RCV001797995RCV003333687RCV004556711
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) SNV
Germline		 Chr22:28695219 Pathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele Breast cancer, susceptibility to
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast neoplasm
Breast and colorectal cancer, susceptibility to
Condition: not provided
Li-Fraumeni syndrome 2
Malignant tumor of prostate
Familial cancer of breast
Bone osteosarcoma
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
CHEK2-related cancer risk
TUMOR PREDISPOSITION SYNDROME 4, BREAST
Breast and/or ovarian cancer
CHEK2-related disorder
CHEK2-related cancer predisposition		 Criteria Provided
Multiple Submitters
No Conflicts
 CA250528 rs_137853011

33 SubmittersRCV000005953RCV000115994RCV000197718RCV000388223RCV000210180RCV000212459RCV000515286RCV000586482RCV001354412RCV001449813RCV003333691RCV003492287RCV004532295RCV004556712
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) SNV
Germline		 Chr17:58709926 Pathogenic/Likely pathogenic Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA168628 rs_267606997

11 SubmittersRCV000007224RCV000131703RCV000506412RCV001194260RCV003315500
NM_058216.3(RAD51C):c.374G>T (p.Gly125Val) SNV
Germline		 Chr17:58695159 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118526 rs_267606998

4 SubmittersRCV000007226RCV001195016RCV001797586RCV003507247
NM_002485.5(NBN):c.511A>G (p.Ile171Val) SNV
Germline		 Chr8:89978293 Conflicting classifications of pathogenicity Leukemia, acute lymphoblastic, susceptibility to
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
not specified
Condition: not provided
Acute lymphoid leukemia
Hereditary cancer
NBN-related disorder
Carcinoma of colon
Hereditary breast ovarian cancer syndrome
Breast carcinoma		 Criteria Provided
Conflicting Classifications
 CA160981 rs_61754966

26 SubmittersRCV000007361RCV000115797RCV000197512RCV000007360RCV000121618RCV000589577RCV000490266RCV003492288RCV003891430RCV001358233RCV001030566RCV001262350
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) SNV
Germline		 Chr13:32363367 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA025480 rs_80359062

19 SubmittersRCV000031723RCV000163026RCV000414368RCV000405476RCV001193120RCV003460448
NM_000059.4(BRCA2):c.8219T>A (p.Leu2740Ter) SNV
Germline		 Chr13:32363421 Pathogenic Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025524 rs_80359070

5 SubmittersRCV000009934RCV000113889RCV000236578RCV001380789
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter) SNV
Germline		 Chr13:32339003 Pathogenic Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Fanconi anemia
Familial cancer of breast		 Reviewed By Expert Panel
 CA020587 rs_80358695

9 SubmittersRCV000009935RCV000044460RCV000113326RCV000571951RCV001530923RCV003473074
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) SNV
Germline		 Chr13:32356521 Pathogenic/Likely pathogenic Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025134 rs_80358979

9 SubmittersRCV000009936RCV000113772RCV000478444RCV000509658RCV001290186
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) SNV
Germline		 Chr13:32340000 Pathogenic Wilms tumor 1
Glioma susceptibility 3
Medulloblastoma
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA022825 rs_80358785

11 SubmittersRCV000009937RCV000009938RCV000009939RCV000113452RCV000496664RCV000568762RCV001284577
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter) SNV
Germline		 Chr13:32380085 Pathogenic Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Familial cancer of breast		 Reviewed By Expert Panel
 CA026028 rs_80359180

22 SubmittersRCV000009941RCV000077463RCV000131052RCV000257912RCV000235644RCV000210196RCV001357808RCV003460449
NM_000059.4(BRCA2):c.631+1G>A SNV
Germline		 Chr13:32326614 Pathogenic/Likely pathogenic Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA023848 rs_81002897

10 SubmittersRCV000009942RCV000044895RCV000113913RCV000131851RCV000985563RCV001310166
NM_000059.4(BRCA2):c.631+2T>G SNV
Germline		 Chr13:32326615 Pathogenic Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Fanconi anemia
Familial cancer of breast
Malignant tumor of breast		 Reviewed By Expert Panel
 CA023852 rs_81002899

21 SubmittersRCV000009943RCV000031615RCV000044897RCV000129071RCV000195357RCV000769680RCV000826135RCV003147279RCV001353557
NM_000546.6(TP53):c.1010G>A (p.Arg337His) SNV
Germline		 Chr17:7670699 Pathogenic/Likely pathogenic Adrenocortical carcinoma, pediatric
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Breast neoplasm
Li-Fraumeni syndrome 1
Condition: not provided
Squamous cell carcinoma of the head and neck
Hereditary breast ovarian cancer syndrome
Gastric cancer
Adrenocortical carcinoma, hereditary
12 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000013 rs_121912664

21 SubmittersRCV000013178RCV000128923RCV000197240RCV000413754RCV000576817RCV000481814RCV000989700RCV002307364RCV003162248RCV001375632RCV002496338
NM_000546.6(TP53):c.566C>T (p.Ala189Val) SNV
Germline		 Chr17:7674965 Conflicting classifications of pathogenicity Familial colorectal cancer
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
not specified
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000270 rs_121912665

11 SubmittersRCV000013182RCV000132058RCV000144671RCV001192620RCV001030736RCV000536677RCV003476892
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) SNV
Germline		 Chr17:43106478 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001250 rs_80357064

16 SubmittersRCV000019228RCV000047634RCV000129894RCV000235121RCV000496255
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) SNV
Germline/somatic		 Chr17:43106487 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast carcinoma
Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Neoplasm of ovary
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA001182 rs_28897672

58 SubmittersRCV000019229RCV000047597RCV000159935RCV000131902RCV000239114RCV000415051RCV000412714RCV000763010RCV000785199RCV001270967
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) SNV
Germline/somatic		 Chr17:43091924 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast neoplasm
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ovarian cancer
Breast and/or ovarian cancer
Neoplasm of ovary
Ovarian carcinoma
Gastric cancer
Malignant tumor of urinary bladder
BRCA1-related disorder		 Reviewed By Expert Panel
 CA002305 rs_62625308

45 SubmittersRCV000019240RCV000048251RCV000159978RCV000148389RCV000131818RCV000239343RCV000677815RCV000735444RCV000785373RCV001642230RCV003162256RCV003332084RCV004554605
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter) SNV
Germline		 Chr17:43091783 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified		 Reviewed By Expert Panel
 CA002402 rs_28897686

28 SubmittersRCV000019241RCV000048311RCV000074586RCV000131811RCV000465125RCV000506391
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) SNV
Germline		 Chr17:43082434 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Malignant tumor of breast		 Reviewed By Expert Panel
 CA002769 rs_41293455

46 SubmittersRCV000019244RCV000048523RCV000131880RCV000159989RCV000235131RCV000239083RCV000735445RCV000763000RCV001353404
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter) SNV
Germline		 Chr17:43093142 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA001588 rs_62625306

16 SubmittersRCV000019252RCV000162856RCV000212169RCV000496416RCV000769717
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) SNV
Germline/somatic		 Chr17:43106457 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S		 Reviewed By Expert Panel
 CA001398 rs_80357382

30 SubmittersRCV000019263RCV000047713RCV000131899RCV000195359RCV000469732RCV000508177RCV000763009
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) SNV
Germline		 Chr17:43051071 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
BRCA1-related disorder		 Reviewed By Expert Panel
 CA003478 rs_41293463

22 SubmittersRCV000019264RCV000048931RCV000131375RCV000167787RCV001170589RCV004554608
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) SNV
Germline		 Chr17:43051071 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003476 rs_41293463

9 SubmittersRCV000019265RCV000496817RCV001526335
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) SNV
Germline		 Chr17:35106406 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Neoplasm of ovary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129082 rs_387906843

20 SubmittersRCV000023220RCV000129358RCV000479705RCV000589947RCV001271049RCV001357904RCV002463429
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) SNV
Germline		 Chr17:61801348 Pathogenic/Likely pathogenic Fanconi anemia complementation group J
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Diffuse intrinsic pontine glioma
Hereditary breast ovarian cancer syndrome
BRIP1-related disorder
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA157735 rs_149364097

15 SubmittersRCV000023492RCV000120412RCV000131544RCV000216316RCV000466014RCV000761010RCV002271374RCV004528133RCV003335053
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) SNV
Germline		 Chr17:58695182 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA325658 rs_387907159

12 SubmittersRCV000024264RCV000205139RCV000219684RCV000483994RCV003149575RCV004576911
NM_000249.4(MLH1):c.94A>G (p.Ile32Val) SNV
Germline		 Chr3:36993641 Conflicting classifications of pathogenicity Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013254 rs_2020872

9 SubmittersRCV000030233RCV000217828RCV000524324RCV000568967RCV001030560
NM_007294.4(BRCA1):c.1033G>T (p.Asp345Tyr) SNV
Germline		 Chr17:43094498 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA000695 rs_80356961

10 SubmittersRCV000030969RCV000047314RCV000236830RCV000509756RCV002250468
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) SNV
Germline/somatic		 Chr17:43115744 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Malignant tumor of urinary bladder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000772 rs_80357498

20 SubmittersRCV000030973RCV000235619RCV000222558RCV000496391RCV000677804RCV003332086
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe) SNV
Germline		 Chr17:43115744 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000773 rs_80357498

8 SubmittersRCV000030974RCV000206829RCV000509711RCV001798024
NM_007294.4(BRCA1):c.1202G>A (p.Gly401Glu) SNV
Germline		 Chr17:43094329 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000791 rs_397507184

8 SubmittersRCV000030979RCV000130767RCV000539447RCV001293586RCV002472941
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu) SNV
Germline		 Chr17:43094309 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA000801 rs_80357253

10 SubmittersRCV000030980RCV000130521RCV000586793RCV000426822RCV001087889RCV001358158
NM_007294.4(BRCA1):c.134+5G>C SNV
Germline		 Chr17:43115721 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000887 rs_80358038

5 SubmittersRCV000030981RCV002381275RCV003644866RCV003493417
NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr) SNV
Germline		 Chr17:43115726 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000890 rs_80356863

11 SubmittersRCV000030983RCV000047432RCV000166686RCV000585902
NM_007294.4(BRCA1):c.135-1G>T SNV
Germline		 Chr17:43106534 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
BRCA1-related cancer predisposition		 Reviewed By Expert Panel
 CA000895 rs_80358158

19 SubmittersRCV000030985RCV000047435RCV000131843RCV000236913RCV001358046RCV002504838RCV004566758
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp) SNV
Germline		 Chr17:43094135 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA000939 rs_80356964

14 SubmittersRCV000030991RCV000132353RCV000502109RCV001353504RCV001485675RCV003149590RCV004554611
NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr) SNV
Germline		 Chr17:43094126 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA000948 rs_397507187

11 SubmittersRCV000030992RCV000165869RCV000236685RCV000587317RCV000526449RCV003149591
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe) SNV
Germline		 Chr17:43094072 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000979 rs_369588942

11 SubmittersRCV000030995RCV000130777RCV000159870RCV000459454RCV000586346
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter) SNV
Germline		 Chr17:43094051 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA000991 rs_80357010

17 SubmittersRCV000030996RCV000047490RCV000223308RCV000657593
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) SNV
Germline		 Chr17:43106514 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA001039 rs_80357084

19 SubmittersRCV000031002RCV000164750RCV000236664RCV000588129RCV001085660RCV001798025RCV003153309
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) SNV
Germline		 Chr17:43093844 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Breast carcinoma
Ovarian cancer
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast and/or ovarian cancer
Neoplasm of ovary
Endometrial carcinoma
BRCA1-related disorder		 Reviewed By Expert Panel
 CA001106 rs_80356898

50 SubmittersRCV000031007RCV000047559RCV000159956RCV000131897RCV000415155RCV000238721RCV000763006RCV000786987RCV000770747RCV000785207RCV003128130RCV004554614
NM_007294.4(BRCA1):c.1690A>T (p.Asn564Tyr) SNV
Germline		 Chr17:43093841 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001110 rs_397507191

3 SubmittersRCV000031008RCV000536478RCV003156722
NM_007294.4(BRCA1):c.1826A>G (p.Asn609Ser) SNV
Germline		 Chr17:43093705 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001189 rs_80357236

7 SubmittersRCV000031010RCV001317096RCV001588833RCV003323366RCV003156723
NM_007294.4(BRCA1):c.1912G>A (p.Glu638Lys) SNV
Germline		 Chr17:43093619 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001255 rs_80357005

9 SubmittersRCV000031014RCV000776222RCV001307829RCV002247401
NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter) SNV
Germline		 Chr17:43093571 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001303 rs_80357355

13 SubmittersRCV000031017RCV000047658RCV000131895RCV000203662
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys) SNV
Germline		 Chr17:43124078 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA001330 rs_80356994

15 SubmittersRCV000031021RCV000130702RCV000428757RCV000758790RCV001085456RCV001354707RCV003492308RCV004554616
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) SNV
Germline		 Chr17:43093525 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001337 rs_80356895

14 SubmittersRCV000031023RCV000130064RCV000420884RCV001472789RCV002250471RCV001800318
NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro) SNV
Germline		 Chr17:43093471 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA001364 rs_28897680

11 SubmittersRCV000031024RCV000047696RCV000129968RCV000587889RCV002281723
NM_007294.4(BRCA1):c.212+1G>A SNV
Germline		 Chr17:43106455 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001405 rs_80358042

17 SubmittersRCV000031027RCV000505828RCV000509688RCV000496861RCV000735528RCV001171413
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr) SNV
Germline		 Chr17:43093408 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001413 rs_80357182

13 SubmittersRCV000031028RCV000129531RCV000314335RCV000709482RCV001193139
NM_007294.4(BRCA1):c.213-11T>G SNV
Germline		 Chr17:43104967 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001424 rs_80358061

18 SubmittersRCV000031030RCV000047725RCV000074570RCV000131898RCV000735531RCV000469831
NM_007294.4(BRCA1):c.213-12A>G SNV
Germline		 Chr17:43104968 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Neoplasm of ovary
not specified
Breast and/or ovarian cancer
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4		 Reviewed By Expert Panel
 CA001426 rs_80358163

28 SubmittersRCV000031031RCV000047726RCV000131900RCV000167772RCV000785201RCV000505888RCV001270969RCV002504839
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) SNV
Germline		 Chr17:43093393 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4		 Reviewed By Expert Panel
 CA001436 rs_80357233

17 SubmittersRCV000031032RCV000047730RCV000074571RCV000162851RCV002477031
NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter) SNV
Germline		 Chr17:43093373 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001445 rs_80356875

8 SubmittersRCV000031034RCV000162852RCV000585721RCV001386504
NM_007294.4(BRCA1):c.2299A>G (p.Ser767Gly) SNV
Germline		 Chr17:43093232 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA001531 rs_80357194

12 SubmittersRCV000031042RCV000047788RCV000130067RCV000485116RCV003155044
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp) SNV
Germline		 Chr17:43093202 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001554 rs_397507199

11 SubmittersRCV000031044RCV000213379RCV000418137RCV000476108RCV001284388
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) SNV
Germline		 Chr17:43093163 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Condition: not provided
Malignant tumor of breast
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA001580 rs_41286298

17 SubmittersRCV000031046RCV000167808RCV000131470RCV000173843RCV000735515RCV000724699RCV001353498RCV004554619
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly) SNV
Germline		 Chr17:43093105 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001620 rs_397507201

11 SubmittersRCV000031049RCV000164846RCV000504369RCV000589185RCV001086610
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) SNV
Germline		 Chr17:43093084 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA001634 rs_80357108

17 SubmittersRCV000031051RCV000131563RCV000437338RCV001086517RCV001356358RCV001798027RCV004554620
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter) SNV
Germline		 Chr17:43092968 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4		 Reviewed By Expert Panel
 CA001689 rs_80357131

13 SubmittersRCV000031056RCV000047880RCV000223464RCV000657621RCV002496473
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter) SNV
Germline		 Chr17:43092928 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001714 rs_80356925

15 SubmittersRCV000031058RCV000162858RCV000235126RCV000496687
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter) SNV
Germline/somatic		 Chr17:43092896 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast		 Reviewed By Expert Panel
 CA001729 rs_80357251

11 SubmittersRCV000031059RCV000047906RCV000235968RCV000509886RCV000769714RCV002250472
NM_007294.4(BRCA1):c.2677A>T (p.Lys893Ter) SNV
Germline		 Chr17:43092854 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001754 rs_80357170

3 SubmittersRCV000031061RCV000702700
NM_007294.4(BRCA1):c.2702T>C (p.Phe901Ser) SNV
Germline		 Chr17:43092829 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001780 rs_397507202

9 SubmittersRCV000031063RCV000221978RCV001689580RCV002513280
NM_007294.4(BRCA1):c.2710G>T (p.Glu904Ter) SNV
Germline		 Chr17:43092821 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA001786 rs_80357035

6 SubmittersRCV000031065RCV001387940RCV001354425
NM_007294.4(BRCA1):c.2714A>G (p.Gln905Arg) SNV
Germline		 Chr17:43092817 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001788 rs_397507203

5 SubmittersRCV000031066RCV000637760RCV001016383RCV003736545
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) SNV
Germline		 Chr17:43092805 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Breast neoplasm
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA001795 rs_80357127

17 SubmittersRCV000031067RCV000132325RCV000235335RCV000240745RCV000657080RCV001083429RCV001355281RCV002250473
NM_007294.4(BRCA1):c.2798G>A (p.Gly933Asp) SNV
Germline		 Chr17:43092733 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001834 rs_80356941

8 SubmittersRCV000031071RCV000047971RCV000256124RCV000561212
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter) SNV
Germline		 Chr17:43092597 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Reviewed By Expert Panel
 CA001915 rs_80357115

15 SubmittersRCV000031074RCV000048017RCV000162860RCV000195361RCV001353980
NM_007294.4(BRCA1):c.2963C>T (p.Ser988Leu) SNV
Germline		 Chr17:43092568 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001928 rs_397507206

9 SubmittersRCV000031075RCV000656788RCV000776172RCV001079126
NM_007294.4(BRCA1):c.302-2A>C SNV
Germline		 Chr17:43104263 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001979 rs_80358011

8 SubmittersRCV000031081RCV001377524RCV001186081RCV003162263RCV003476906
NM_007294.4(BRCA1):c.302-3C>G SNV
Germline		 Chr17:43104264 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001987 rs_80358051

8 SubmittersRCV000031082RCV000219090RCV001723593RCV001377525
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val) SNV
Germline		 Chr17:43092476 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002008 rs_80357311

13 SubmittersRCV000031085RCV000048061RCV000132486RCV000589797
NM_007294.4(BRCA1):c.3112G>T (p.Glu1038Ter) SNV
Germline		 Chr17:43092419 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002035 rs_80357161

7 SubmittersRCV000031090RCV000131907RCV000496578
NM_007294.4(BRCA1):c.3185G>T (p.Gly1062Val) SNV
Germline		 Chr17:43092346 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA002075 rs_397507211

7 SubmittersRCV000031094RCV000130834RCV000485820RCV001042144RCV001354784
NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu) SNV
Germline		 Chr17:43092284 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002098 rs_397507213

10 SubmittersRCV000031098RCV000164913RCV000559848RCV000590619
NM_007294.4(BRCA1):c.3352C>T (p.Gln1118Ter) SNV
Germline/somatic		 Chr17:43092179 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Neoplasm of ovary		 Reviewed By Expert Panel
 CA002172 rs_397507215

9 SubmittersRCV000031105RCV000167367RCV000578536RCV001290608RCV000785370
NM_007294.4(BRCA1):c.3354G>T (p.Gln1118His) SNV
Germline		 Chr17:43092177 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002175 rs_80357334

7 SubmittersRCV000031106RCV000048160RCV000164761RCV000586936
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser) SNV
Germline		 Chr17:43092169 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002182 rs_80356919

14 SubmittersRCV000031108RCV000048166RCV000569556RCV000425661RCV001697097
NM_007294.4(BRCA1):c.3389C>G (p.Ser1130Ter) SNV
Germline		 Chr17:43092142 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002190 rs_80357405

11 SubmittersRCV000031109RCV000236909RCV000496618RCV001180645
NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter) SNV
Germline		 Chr17:43092131 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002199 rs_80357018

19 SubmittersRCV000031110RCV000048178RCV000203638RCV000509963
NM_007294.4(BRCA1):c.3652A>G (p.Ser1218Gly) SNV
Germline		 Chr17:43091879 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA002339 rs_80356894

8 SubmittersRCV000031117RCV000166540RCV000686085RCV000587400RCV002477032RCV004554625
NM_007294.4(BRCA1):c.3689T>G (p.Leu1230Ter) SNV
Germline		 Chr17:43091842 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002359 rs_80357162

7 SubmittersRCV000112154RCV000580523RCV000985406RCV001384592
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu) SNV
Germline		 Chr17:43091840 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA002361 rs_41293451

12 SubmittersRCV000031122RCV000048282RCV000131521RCV000195391RCV001281713RCV004554626
NM_007294.4(BRCA1):c.3782T>C (p.Leu1261Ser) SNV
Germline		 Chr17:43091749 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002436 rs_397507219

7 SubmittersRCV000031129RCV000129886RCV000709473
NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter) SNV
Germline		 Chr17:43091663 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA002492 rs_80357254

10 SubmittersRCV000031135RCV000048361RCV002354175RCV001271016
NM_007294.4(BRCA1):c.3877G>C (p.Ala1293Pro) SNV
Germline		 Chr17:43091654 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002499 rs_397507223

6 SubmittersRCV000031136RCV000222822RCV000688186
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter) SNV
Germline		 Chr17:43091594 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Reviewed By Expert Panel
 CA002527 rs_80357318

16 SubmittersRCV000031137RCV000048386RCV000131882RCV000482757RCV001002640
NM_007294.4(BRCA1):c.398G>A (p.Arg133His) SNV
Germline		 Chr17:43104165 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002555 rs_80357357

10 SubmittersRCV000031138RCV000128888RCV000443460RCV001353645RCV001719703RCV001479032
NM_007294.4(BRCA1):c.3991C>T (p.Gln1331Ter) SNV
Germline		 Chr17:43091540 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002556 rs_397507224

5 SubmittersRCV000031139RCV001852618RCV002354176
NM_007294.4(BRCA1):c.4015G>T (p.Glu1339Ter) SNV
Germline		 Chr17:43091516 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002568 rs_80357021

10 SubmittersRCV000031140RCV000162870RCV000587615RCV001555283
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly) SNV
Germline		 Chr17:43091458 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002603 rs_397507225

11 SubmittersRCV000031143RCV000481308RCV000584349RCV000637566RCV000766672
NM_007294.4(BRCA1):c.4075C>G (p.Gln1359Glu) SNV
Germline		 Chr17:43091456 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002605 rs_80357456

4 SubmittersRCV000031144RCV000565627RCV000637817
NM_007294.4(BRCA1):c.4083G>A (p.Met1361Ile) SNV
Germline		 Chr17:43091448 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA002610 rs_374192364

8 SubmittersRCV000031145RCV000129891RCV000478992RCV000637459RCV000766669RCV001818194
NM_007294.4(BRCA1):c.4097-1G>A SNV
Germline		 Chr17:43091033 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002624 rs_80358070

7 SubmittersRCV000031148RCV001381004RCV002321493
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter) SNV
Germline		 Chr17:43091012 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Malignant tumor of breast		 Reviewed By Expert Panel
 CA002641 rs_80357259

17 SubmittersRCV000031150RCV000048449RCV000074589RCV000162872RCV000735478RCV001353510
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg) SNV
Germline		 Chr17:43091002 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA002646 rs_80356986

11 SubmittersRCV000031152RCV000048453RCV000132420RCV000586810RCV000484416RCV001353468
NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter) SNV
Germline		 Chr17:43090981 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002657 rs_80357071

6 SubmittersRCV000112270RCV000213696RCV001383858
NM_007294.4(BRCA1):c.4181C>T (p.Thr1394Ile) SNV
Germline		 Chr17:43090948 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA002673 rs_397507226

8 SubmittersRCV000031154RCV000164912RCV000236566RCV000530171RCV003226170
NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val) SNV
Germline		 Chr17:43082548 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002714 rs_80357353

11 SubmittersRCV000031156RCV000444773RCV000565302RCV000679696RCV001078939
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) SNV
Germline		 Chr17:43104136 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA002746 rs_80356991

26 SubmittersRCV000031162RCV000048511RCV000074592RCV000162876RCV000465234
NM_007294.4(BRCA1):c.4357+1G>A SNV
Germline		 Chr17:43082403 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002787 rs_80358027

23 SubmittersRCV000031165RCV000048532RCV000131879RCV000167804
NM_007294.4(BRCA1):c.4357+6T>C SNV
Germline		 Chr17:43082398 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002793 rs_80358143

8 SubmittersRCV000031166RCV000767300RCV000775143
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) SNV
Germline		 Chr17:43099876 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA002865 rs_397507233

14 SubmittersRCV000031175RCV000240737RCV000219296RCV000458634RCV000479398RCV000764128RCV002267803RCV001357250
NM_007294.4(BRCA1):c.4484+1G>A SNV
Germline		 Chr17:43076487 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002873 rs_80358063

16 SubmittersRCV000031177RCV000048572RCV000521426RCV000585660RCV000573576RCV001354007
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) SNV
Germline		 Chr17:43076488 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002875 rs_80357389

17 SubmittersRCV000031178RCV000162878RCV000479568RCV001357179RCV001389264RCV002250476
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) SNV
Germline		 Chr17:43076488 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002876 rs_80357389

23 SubmittersRCV000031179RCV000048576RCV000131886RCV000159992RCV000238601RCV000462940RCV000770739RCV001171414
NM_007294.4(BRCA1):c.4485-8C>T SNV
Germline		 Chr17:43074529 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002880 rs_397507234

10 SubmittersRCV000031180RCV000229987RCV000584536RCV000508687RCV001358004
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg) SNV
Germline		 Chr17:43099865 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA002914 rs_28897674

10 SubmittersRCV000031181RCV000131372RCV000588983RCV001085851RCV003234929
NM_007294.4(BRCA1):c.4638T>G (p.Asp1546Glu) SNV
Germline		 Chr17:43074368 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002938 rs_397507235

5 SubmittersRCV000031182RCV000941372RCV000774940RCV001719705
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys) SNV
Germline		 Chr17:43074331 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002963 rs_80356988

15 SubmittersRCV000031185RCV000131823RCV000496604RCV000482921
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) SNV
Germline		 Chr17:43074331 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002964 rs_80356988

12 SubmittersRCV000031186RCV000131825RCV001811228RCV001379224
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) SNV
Germline		 Chr17:43071225 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Neoplasm of ovary
BRCA1-related disorder		 Reviewed By Expert Panel
 CA002979 rs_80357433

40 SubmittersRCV000031188RCV000048631RCV000131835RCV000159994RCV000464295RCV000785416RCV004554629
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) SNV
Germline		 Chr17:43071046 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003058 rs_80356862

17 SubmittersRCV000031195RCV000074598RCV000048680RCV000131686RCV000496627RCV001353579
NM_007294.4(BRCA1):c.4986+1G>T SNV
Germline		 Chr17:43070927 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003119 rs_80358162

6 SubmittersRCV000031199RCV001380795RCV003476909
NM_007294.4(BRCA1):c.4986+4A>C SNV
Germline		 Chr17:43070924 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003122 rs_80358087

11 SubmittersRCV000031200RCV000480773RCV000570191RCV000496440
NM_007294.4(BRCA1):c.4986+6T>C SNV
Germline		 Chr17:43070922 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003127 rs_80358086

22 SubmittersRCV000031201RCV000048724RCV000131837RCV000159997RCV000735559
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) SNV
Germline		 Chr17:43067616 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003182 rs_80357061

12 SubmittersRCV000031206RCV000048755RCV000163023RCV001588834RCV004554632
NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter) SNV
Germline		 Chr17:43067614 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003184 rs_397507239

12 SubmittersRCV000031207RCV001384446RCV001529865RCV002257366
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys) SNV
Germline		 Chr17:43067610 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003188 rs_80357034

9 SubmittersRCV000031208RCV000048760RCV000485950RCV000574915RCV002250478
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) SNV
Germline		 Chr17:43067610 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003190 rs_80357034

13 SubmittersRCV000031209RCV000048762RCV000509720RCV000508659RCV001171419RCV002247402RCV004554633
NM_007294.4(BRCA1):c.5074+1G>A SNV
Germline		 Chr17:43067607 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast		 Reviewed By Expert Panel
 CA003193 rs_80358053

16 SubmittersRCV000031210RCV000048764RCV000131833RCV000481404RCV001353952
NM_007294.4(BRCA1):c.5074+1G>T SNV
Germline		 Chr17:43067607 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003194 rs_80358053

11 SubmittersRCV000031211RCV000482341RCV000496776RCV000772123
NM_007294.4(BRCA1):c.5074+2T>C SNV
Germline		 Chr17:43067606 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Reviewed By Expert Panel
 CA003196 rs_80358089

14 SubmittersRCV000031212RCV000563483RCV000465250RCV001353976
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) SNV
Germline/somatic		 Chr17:43067608 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003201 rs_80187739

15 SubmittersRCV000031213RCV000217586RCV000255870RCV000496924RCV003332088
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) SNV
Germline		 Chr17:43067608 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Neoplasm of ovary		 Reviewed By Expert Panel
 CA003202 rs_80187739

18 SubmittersRCV000031214RCV000048768RCV000256114RCV000220578RCV001353883RCV000785420
NM_007294.4(BRCA1):c.5075-6C>A SNV
Germline		 Chr17:43063957 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA003213 rs_397507240

9 SubmittersRCV000031215RCV000254981RCV000416553RCV000774932RCV003987335
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) SNV
Germline		 Chr17:43063936 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
Condition: not provided
BRCA1-related cancer predisposition		 Reviewed By Expert Panel
 CA003230 rs_397507241

9 SubmittersRCV000031216RCV000129997RCV000464859RCV000501879RCV001353519RCV000735461RCV003318545RCV004566763
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) SNV
Germline		 Chr17:43063930 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Neoplasm of ovary
Breast and/or ovarian cancer
Familial cancer of breast
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Gastric cancer
BRCA1-related disorder		 Reviewed By Expert Panel
 CA003235 rs_41293459

46 SubmittersRCV000031217RCV000048790RCV000131564RCV000195350RCV000785422RCV000735446RCV002250479RCV002496477RCV003162265RCV004554634
NM_007294.4(BRCA1):c.5114T>C (p.Leu1705Pro) SNV
Germline		 Chr17:43063912 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003248 rs_397507242

4 SubmittersRCV000031218RCV001058708RCV001023567
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) SNV
Germline		 Chr17:43063909 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA003249 rs_80356860

15 SubmittersRCV000031219RCV000221607RCV000219187RCV000256122RCV001170590
NM_007294.4(BRCA1):c.5152+1G>C SNV
Germline		 Chr17:43063873 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003280 rs_80358094

13 SubmittersRCV000031223RCV000225766RCV001023623RCV000759552RCV004554635
NM_007294.4(BRCA1):c.5153-1G>C SNV
Germline		 Chr17:43063374 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003297 rs_80358137

14 SubmittersRCV000031224RCV000048827RCV002336099RCV002267804
NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter) SNV
Germline		 Chr17:43063347 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003327 rs_80357347

17 SubmittersRCV000031226RCV000048844RCV000131827RCV000237069
NM_007294.4(BRCA1):c.5191G>T (p.Glu1731Ter) SNV
Germline		 Chr17:43063335 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10591159 rs_397507244

5 SubmittersRCV000571448RCV000698353RCV001076151
NM_007294.4(BRCA1):c.5194-2A>G SNV
Germline		 Chr17:43057137 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003347 rs_80358069

17 SubmittersRCV000031228RCV000131860RCV000256055RCV000496913RCV001353945RCV001798033RCV002250481
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) SNV
Germline		 Chr17:43057122 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S		 Reviewed By Expert Panel
 CA003357 rs_45553935

23 SubmittersRCV000031229RCV000048857RCV000131291RCV000195366RCV000585878
NM_007294.4(BRCA1):c.5242G>T (p.Gly1748Cys) SNV
Germline		 Chr17:43057087 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003383 rs_397507245

5 SubmittersRCV000031231RCV000473758RCV000487391RCV000509724
NM_007294.4(BRCA1):c.5277+1G>A SNV
Germline		 Chr17:43057051 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Reviewed By Expert Panel
 CA003419 rs_80358150

29 SubmittersRCV000031235RCV000074601RCV000131865RCV000235135RCV000507129RCV000735562RCV001171438RCV001353526
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) SNV
Germline		 Chr17:43051098 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003452 rs_80357463

13 SubmittersRCV000031237RCV000048915RCV000218342RCV001284552
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter) SNV
Germline		 Chr17:43049181 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Reviewed By Expert Panel
 CA003514 rs_80357284

20 SubmittersRCV000031239RCV000131866RCV000256177RCV000496476RCV001357644
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) SNV
Germline		 Chr17:43049179 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast neoplasm
Breast and/or ovarian cancer
Malignant tumor of breast
not specified
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA003516 rs_55808233

18 SubmittersRCV000031240RCV000129758RCV000167822RCV000585920RCV000414204RCV000735500RCV001353920RCV001818195RCV003492309
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val) SNV
Germline		 Chr17:43049164 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Reviewed By Expert Panel
 CA003530 rs_80357069

13 SubmittersRCV000031241RCV000048961RCV000162885RCV000235698RCV001002191
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter) SNV
Germline		 Chr17:43049140 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003546 rs_80357055

9 SubmittersRCV000031244RCV000048970RCV000162886RCV000522547
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) SNV
Germline		 Chr17:43124044 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003550 rs_80356929

19 SubmittersRCV000031245RCV000131693RCV000212154RCV001253789
NM_007294.4(BRCA1):c.5406+5G>T SNV
Germline		 Chr17:43049116 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003561 rs_80358073

10 SubmittersRCV000031248RCV000160008RCV000562618RCV000476190RCV000780995
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala) SNV
Germline		 Chr17:43047702 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003574 rs_80357149

8 SubmittersRCV000031249RCV000985440RCV001326886RCV001024053
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) SNV
Germline		 Chr17:43047676 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003596 rs_1800751

15 SubmittersRCV000031251RCV000484398RCV000574861RCV000496797RCV001390965
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) SNV
Germline		 Chr17:43047657 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003605 rs_80357477

11 SubmittersRCV000031253RCV000215390RCV000257937RCV001095362
NM_007294.4(BRCA1):c.5467+1G>A SNV
Germline		 Chr17:43047642 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003610 rs_80358145

13 SubmittersRCV000031254RCV000049003RCV000162888RCV000430282
NM_007294.4(BRCA1):c.547+2T>A SNV
Germline		 Chr17:43099773 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA003636 rs_80358047

17 SubmittersRCV000031255RCV000034759RCV000481282RCV000563139RCV003149593
NM_007294.4(BRCA1):c.548-3T>C SNV
Germline		 Chr17:43097292 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003654 rs_397507252

8 SubmittersRCV000031258RCV000473116RCV000482750RCV000771276
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) SNV
Germline		 Chr17:43045761 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003680 rs_80356959

19 SubmittersRCV000031260RCV000129546RCV000236322RCV000779893
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys) SNV
Germline		 Chr17:43045759 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003686 rs_80356914

7 SubmittersRCV000031261RCV000049030RCV000774925
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) SNV
Germline		 Chr17:43045749 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA003694 rs_80357299

8 SubmittersRCV000031262RCV000496641RCV000501320RCV000735509RCV002513284
NM_007294.4(BRCA1):c.593+9A>G SNV
Germline		 Chr17:43097235 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003751 rs_80358133

8 SubmittersRCV000031266RCV000433193RCV000531917RCV000580719RCV003736546
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser) SNV
Germline		 Chr17:43095855 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003780 rs_80357088

10 SubmittersRCV000031271RCV000165438RCV000200971RCV001498329RCV001703433
NM_007294.4(BRCA1):c.670+8C>T SNV
Germline		 Chr17:43095838 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003797 rs_80358050

6 SubmittersRCV000031273RCV000049088RCV000496492RCV000581155
NM_007294.4(BRCA1):c.745A>T (p.Thr249Ser) SNV
Germline		 Chr17:43094786 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003847 rs_397507256

7 SubmittersRCV000031277RCV000221443RCV000590556RCV001063586
NM_007294.4(BRCA1):c.783T>G (p.Tyr261Ter) SNV
Germline		 Chr17:43094748 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003865 rs_80357321

11 SubmittersRCV000031278RCV000212162RCV000496530RCV000509946
NM_007294.4(BRCA1):c.81-6T>C SNV
Germline		 Chr17:43115785 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Condition: not provided
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA003916 rs_80358179

16 SubmittersRCV000031284RCV000123287RCV000423870RCV000581130RCV000768652RCV001353944RCV001811229RCV004554637
NM_007294.4(BRCA1):c.85G>T (p.Glu29Ter) SNV
Germline		 Chr17:43115775 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003943 rs_80357443

8 SubmittersRCV000031288RCV001389948RCV001800321
NM_007294.4(BRCA1):c.956A>G (p.Asn319Ser) SNV
Germline		 Chr17:43094575 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003983 rs_397507258

4 SubmittersRCV000031292RCV001019486RCV001314773
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter) SNV
Germline		 Chr17:43094569 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Tay-Sachs disease
Long QT syndrome		 Reviewed By Expert Panel
 CA003986 rs_80357292

19 SubmittersRCV000031293RCV000049204RCV000162891RCV000159948RCV000239176RCV000735517RCV004526601RCV004541032
NM_007294.4(BRCA1):c.988G>A (p.Asp330Asn) SNV
Germline		 Chr17:43094543 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA004002 rs_397507259

7 SubmittersRCV000031294RCV000165321RCV001338193RCV003321486
NM_000059.4(BRCA2):c.-9T>C SNV
Germline		 Chr13:32316452 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026356 rs_276174802

10 SubmittersRCV000031298RCV000425748RCV000584062RCV000587310RCV001085220
NM_000059.4(BRCA2):c.10024G>A (p.Glu3342Lys) SNV
Germline		 Chr13:32398537 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA010063 rs_28897761

7 SubmittersRCV000031299RCV000220854RCV000445222RCV000463710RCV001705616
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) SNV
Germline		 Chr13:32398667 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA010372 rs_80358398

15 SubmittersRCV000031303RCV000162743RCV000374528RCV000768613RCV000725588RCV001086927RCV001353958RCV004532431
NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu) SNV
Germline		 Chr13:32332644 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA011022 rs_397507263

11 SubmittersRCV000031308RCV000439294RCV000571104RCV000589187RCV001085676RCV002250483
NM_000059.4(BRCA2):c.1199T>C (p.Leu400Pro) SNV
Germline		 Chr13:32332677 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA011124 rs_397507264

4 SubmittersRCV000031310RCV000229646RCV000571637
NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys) SNV
Germline		 Chr13:32332905 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA012011 rs_80358431

13 SubmittersRCV000031320RCV000132255RCV000203653RCV000589266RCV001818197
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu) SNV
Germline		 Chr13:32332938 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
not specified		 Criteria Provided
Conflicting Classifications
 CA012131 rs_56390402

17 SubmittersRCV000031322RCV000131573RCV000679155RCV001082494RCV001109419RCV001818198
NM_000059.4(BRCA2):c.1472C>G (p.Thr491Ser) SNV
Germline		 Chr13:32332950 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012168 rs_397507268

6 SubmittersRCV000031323RCV000220125RCV000566123RCV000637774
NM_000059.4(BRCA2):c.1487C>T (p.Ser496Phe) SNV
Germline		 Chr13:32332965 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA012209 rs_397507269

7 SubmittersRCV000031324RCV000205000RCV000772728RCV003330404
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser) SNV
Germline		 Chr13:32333028 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA012378 rs_80358439

14 SubmittersRCV000031326RCV000043826RCV000129057RCV000586299RCV002267805
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg) SNV
Germline		 Chr13:32333042 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma		 Criteria Provided
Conflicting Classifications
 CA012430 rs_80358442

15 SubmittersRCV000031327RCV000034431RCV000043829RCV000165147RCV000200975RCV001353896
NM_000059.4(BRCA2):c.1574C>T (p.Thr525Ile) SNV
Germline		 Chr13:32333052 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA012488 rs_397507271

9 SubmittersRCV000031328RCV000219292RCV001367198RCV001723594
NM_000059.4(BRCA2):c.1600G>A (p.Glu534Lys) SNV
Germline		 Chr13:32333078 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA012611 rs_276174810

11 SubmittersRCV000031330RCV000131321RCV000215004RCV001327852RCV003317049
NM_000059.4(BRCA2):c.1625T>C (p.Ile542Thr) SNV
Germline		 Chr13:32333103 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012660 rs_397507273

7 SubmittersRCV000031331RCV000222475RCV000589631RCV001222108
NM_000059.4(BRCA2):c.1705C>A (p.Gln569Lys) SNV
Germline		 Chr13:32333183 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA012949 rs_397507274

8 SubmittersRCV000215568RCV000220050RCV000470503RCV001800322RCV003996149
NM_000059.4(BRCA2):c.1756A>G (p.Lys586Glu) SNV
Germline		 Chr13:32333234 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA013100 rs_397507275

9 SubmittersRCV000031336RCV000166903RCV000801636RCV001753436RCV003149594RCV003323367
NM_000059.4(BRCA2):c.1799A>G (p.Tyr600Cys) SNV
Germline		 Chr13:32333277 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013299 rs_397507276

4 SubmittersRCV000031338RCV000567913RCV002513285
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) SNV
Germline		 Chr13:32319188 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA013307 rs_80358463

14 SubmittersRCV000031339RCV000130469RCV000168530RCV001114847RCV001082266RCV001284556RCV003607203
NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter) SNV
Germline		 Chr13:32333278 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA013314 rs_80358464

13 SubmittersRCV000031340RCV000131060RCV000216426RCV000496257RCV003460500
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter) SNV
Germline		 Chr13:32333310 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast		 Reviewed By Expert Panel
 CA013511 rs_80358474

19 SubmittersRCV000031345RCV000043906RCV000131056RCV000212216RCV001353665RCV003460501
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter) SNV
Germline		 Chr13:32333328 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA013563 rs_397507278

6 SubmittersRCV000031346RCV000510116RCV000587137
NM_000059.4(BRCA2):c.1970T>A (p.Leu657Ter) SNV
Germline		 Chr13:32336325 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA014065 rs_397507279

6 SubmittersRCV000031352RCV000223168RCV000558782RCV000657697RCV003473160
NM_000059.4(BRCA2):c.2026T>C (p.Cys676Arg) SNV
Germline		 Chr13:32336381 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA014166 rs_397507280

10 SubmittersRCV000031353RCV000816423RCV001014109RCV001509436
NM_000059.4(BRCA2):c.2152G>A (p.Glu718Lys) SNV
Germline		 Chr13:32336507 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA014465 rs_397507281

8 SubmittersRCV000031356RCV000462341RCV000571025RCV001588835
NM_000059.4(BRCA2):c.2231C>G (p.Ser744Ter) SNV
Germline		 Chr13:32336586 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA014691 rs_397507282

10 SubmittersRCV000031358RCV000572355RCV000481885RCV001385142RCV003473162
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly) SNV
Germline		 Chr13:32336595 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fanconi anemia complementation group D1		 Criteria Provided
Conflicting Classifications
 CA014722 rs_397507283

13 SubmittersRCV000031359RCV000204756RCV000215823RCV000487003RCV000657147RCV001112185
NM_000059.4(BRCA2):c.2281T>C (p.Tyr761His) SNV
Germline		 Chr13:32336636 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA014861 rs_80358499

9 SubmittersRCV000031360RCV000043968RCV000132108RCV000995057
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) SNV
Germline		 Chr13:32336675 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA014934 rs_55968715

19 SubmittersRCV000031362RCV000120313RCV000131357RCV000225743RCV001719707RCV004532435
NM_000059.4(BRCA2):c.235A>G (p.Ile79Val) SNV
Germline		 Chr13:32319244 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA015040 rs_80358502

9 SubmittersRCV000031364RCV000500366RCV000561580RCV001588836RCV001852621
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter) SNV
Germline		 Chr13:32336764 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast		 Reviewed By Expert Panel
 CA015152 rs_80358504

16 SubmittersRCV000031365RCV000043984RCV000212221RCV000573627RCV000769686RCV003473164
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile) SNV
Germline		 Chr13:32319250 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA015198 rs_80358507

15 SubmittersRCV000031366RCV000043988RCV000217504RCV000586268RCV002295275
NM_000059.4(BRCA2):c.2426T>G (p.Leu809Ter) SNV
Germline		 Chr13:32336781 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA015222 rs_397507285

11 SubmittersRCV000031367RCV000160047RCV000204854RCV000561108RCV004566765
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile) SNV
Germline		 Chr13:32336846 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA015472 rs_397507287

12 SubmittersRCV000031369RCV000204111RCV000221646RCV001269089RCV001553524
NM_000059.4(BRCA2):c.2507C>T (p.Pro836Leu) SNV
Germline		 Chr13:32336862 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA015505 rs_397507288

5 SubmittersRCV000031370RCV001015788RCV001852622RCV001824581
NM_000059.4(BRCA2):c.2555A>G (p.Asn852Ser) SNV
Germline		 Chr13:32336910 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA015629 rs_80358519

6 SubmittersRCV000031371RCV001015944RCV001371141RCV001800323
NM_000059.4(BRCA2):c.2572A>G (p.Arg858Gly) SNV
Germline		 Chr13:32336927 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA015667 rs_397507289

6 SubmittersRCV000031372RCV000160215RCV000166715RCV000532132
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys) SNV
Germline		 Chr13:32336944 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA015734 rs_80358521

13 SubmittersRCV000031375RCV000044020RCV000130583RCV000427575RCV001284078RCV004541034
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala) SNV
Germline		 Chr13:32337071 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA016160 rs_80358528

13 SubmittersRCV000031379RCV000165093RCV000160218RCV000204999RCV000768588RCV001719708RCV004532436
NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter) SNV
Germline/somatic		 Chr13:32319283 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast neoplasm
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA016251 rs_80358529

13 SubmittersRCV000031380RCV000212204RCV000215800RCV000240677RCV000496410
NM_000059.4(BRCA2):c.2758C>A (p.Pro920Thr) SNV
Germline		 Chr13:32337113 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA016278 rs_397507293

8 SubmittersRCV000031381RCV000469857RCV000776350RCV001355877
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) SNV
Germline		 Chr13:32319289 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA016455 rs_80358531

17 SubmittersRCV000031384RCV000129340RCV000168018RCV000254706RCV000589736RCV001798039
NM_000059.4(BRCA2):c.2818C>T (p.Gln940Ter) SNV
Germline		 Chr13:32337173 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA016502 rs_80358532

12 SubmittersRCV000031385RCV000044068RCV000131103RCV000521686RCV003460503
NM_000059.4(BRCA2):c.2827A>G (p.Ile943Val) SNV
Germline		 Chr13:32337182 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA016516 rs_397507294

7 SubmittersRCV000031386RCV001320611RCV001775544RCV003156725
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn) SNV
Germline		 Chr13:32337263 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA016740 rs_397507295

13 SubmittersRCV000031387RCV000129877RCV000220683RCV000196636RCV000588181RCV000763884RCV000735533
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu) SNV
Germline		 Chr13:32337273 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Fanconi anemia complementation group D1
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA016775 rs_397507296

13 SubmittersRCV000031388RCV000165120RCV000220429RCV000471898RCV000781108RCV001111816RCV003153311
NM_000059.4(BRCA2):c.2937A>G (p.Ile979Met) SNV
Germline		 Chr13:32337292 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016830 rs_397507297

4 SubmittersRCV000031389RCV000772737RCV003529924
NM_000059.4(BRCA2):c.2938G>T (p.Asp980Tyr) SNV
Germline		 Chr13:32337293 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA016836 rs_397507298

8 SubmittersRCV000031390RCV000129246RCV000506200RCV000692326RCV000766614
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met) SNV
Germline		 Chr13:32337301 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA016856 rs_80358541

12 SubmittersRCV000031391RCV000131646RCV000590161RCV001081289RCV001356963RCV001175363RCV002250485
NM_000059.4(BRCA2):c.2979G>A (p.Trp993Ter) SNV
Germline		 Chr13:32337334 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA016943 rs_80358544

10 SubmittersRCV000031393RCV000162915RCV000203665RCV003473167
NM_000059.4(BRCA2):c.2984G>C (p.Gly995Ala) SNV
Germline		 Chr13:32337339 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016963 rs_397507299

4 SubmittersRCV000031394RCV000574159RCV001339914
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg) SNV
Germline		 Chr13:32337387 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA017069 rs_80358548

17 SubmittersRCV000031396RCV000148418RCV000164588RCV000589304RCV001080499RCV004532437
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) SNV
Germline/somatic		 Chr13:32337464 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
8 conditions
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
BRCA2-related disorder		 Reviewed By Expert Panel
 CA017251 rs_80358557

17 SubmittersRCV000031400RCV000044120RCV000160056RCV000216711RCV000762916RCV001353509RCV003149595RCV002250486RCV004541035
NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter) SNV
Germline		 Chr13:32337513 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA017322 rs_41293477

15 SubmittersRCV000031401RCV000162916RCV000424640RCV000496393RCV003460504
NM_000059.4(BRCA2):c.316+1G>A SNV
Germline		 Chr13:32319326 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA017358 rs_397507303

4 SubmittersRCV000031403RCV001378664RCV000772114
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg) SNV
Germline		 Chr13:32337573 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
not specified
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA017573 rs_80358566

14 SubmittersRCV000031409RCV000129622RCV000588491RCV001357102RCV001083043RCV003389627RCV001798041
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) SNV
Germline		 Chr13:32337617 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA017647 rs_80358572

22 SubmittersRCV000031410RCV000129258RCV000044159RCV000585942RCV001086347
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile) SNV
Germline		 Chr13:32337654 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA017736 rs_80358575

15 SubmittersRCV000031413RCV000044173RCV000129737RCV000656794RCV001085619RCV004584178
NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter) SNV
Germline		 Chr13:32337663 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA017759 rs_397507305

5 SubmittersRCV000031415RCV000798064RCV001262729RCV002321494
NM_000059.4(BRCA2):c.3321A>C (p.Gln1107His) SNV
Germline		 Chr13:32337676 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA017780 rs_397507306

9 SubmittersRCV000031416RCV000131343RCV000794728RCV000780030RCV003476910
NM_000059.4(BRCA2):c.3349A>G (p.Ile1117Val) SNV
Germline		 Chr13:32337704 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA017820 rs_397507307

6 SubmittersRCV000031418RCV000480421RCV000688673RCV000772028
NM_000059.4(BRCA2):c.3422C>T (p.Thr1141Ile) SNV
Germline		 Chr13:32337777 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA017995 rs_397507308

7 SubmittersRCV000031420RCV000200443RCV000579950RCV000781057
NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly) SNV
Germline		 Chr13:32337792 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA018008 rs_80358588

10 SubmittersRCV000031421RCV000044192RCV000129732RCV000780046RCV003151738
NM_000059.4(BRCA2):c.3443A>G (p.Gln1148Arg) SNV
Germline		 Chr13:32337798 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA018029 rs_200808363

7 SubmittersRCV000031422RCV000222474RCV000467374RCV001193843
NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met) SNV
Germline		 Chr13:32337808 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA018084 rs_80358592

12 SubmittersRCV000031423RCV000132398RCV000212229RCV001086601RCV001703436
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val) SNV
Germline		 Chr13:32337864 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA018216 rs_80358599

14 SubmittersRCV000031425RCV000217936RCV000440300RCV001392166RCV001703437
NM_000059.4(BRCA2):c.353G>A (p.Arg118His) SNV
Germline		 Chr13:32325112 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Cancer of the pancreas
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA018293 rs_80358603

12 SubmittersRCV000031426RCV000044218RCV000164685RCV000200972RCV000587352RCV000677866RCV003607204
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln) SNV
Germline		 Chr13:32337924 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA018360 rs_80358605

13 SubmittersRCV000031428RCV000130051RCV000587455RCV001082730RCV003234930
NM_000059.4(BRCA2):c.3620A>G (p.Tyr1207Cys) SNV
Germline		 Chr13:32337975 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA018414 rs_397507310

6 SubmittersRCV000031429RCV000218950RCV000557673RCV000569223
NM_000059.4(BRCA2):c.3658T>C (p.Tyr1220His) SNV
Germline		 Chr13:32338013 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA018482 rs_397507312

3 SubmittersRCV000031431RCV001216931RCV003156726
NM_000059.4(BRCA2):c.3662C>A (p.Ser1221Tyr) SNV
Germline		 Chr13:32338017 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA018495 rs_397507313

9 SubmittersRCV000031432RCV000160066RCV000698137RCV000772742RCV003317050
NM_000059.4(BRCA2):c.3794G>T (p.Cys1265Phe) SNV
Germline		 Chr13:32338149 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA018818 rs_397507315

6 SubmittersRCV000031438RCV000131347RCV000555191RCV001800324
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala) SNV
Germline		 Chr13:32338265 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Malignant tumor of breast
Familial cancer of breast
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA019137 rs_28897723

15 SubmittersRCV000031446RCV000044305RCV000130607RCV000417556RCV001170462RCV001353744RCV003607206RCV004532440
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) SNV
Germline		 Chr13:32338277 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
8 conditions
BRCA2-related disorder		 Reviewed By Expert Panel
 CA019195 rs_80358638

23 SubmittersRCV000031448RCV000044312RCV000128952RCV000167856RCV000465243RCV002490436RCV004532441
NM_000059.4(BRCA2):c.396T>A (p.Cys132Ter) SNV
Germline		 Chr13:32325155 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA019311 rs_397507320

6 SubmittersRCV000031450RCV000520725RCV001384950
NM_000059.4(BRCA2):c.3G>T (p.Met1Ile) SNV
Germline		 Chr13:32316463 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Single Submitter
 CA019369 rs_80358650

5 SubmittersRCV000031452RCV000496217RCV000735545
NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr) SNV
Germline		 Chr13:32338409 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019440 rs_80358655

13 SubmittersRCV000031455RCV000565185RCV000481701RCV000770723RCV001345237
NM_000059.4(BRCA2):c.4151T>A (p.Leu1384Ter) SNV
Germline		 Chr13:32338506 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA019626 rs_397507325

5 SubmittersRCV000031465RCV001383064RCV001524855
NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys) SNV
Germline		 Chr13:32338544 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA019698 rs_28897726

11 SubmittersRCV000031468RCV000044370RCV000203656RCV000509937RCV000586214RCV003483437
NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter) SNV
Germline		 Chr13:32338577 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related disorder		 Reviewed By Expert Panel
 CA019744 rs_80358663

15 SubmittersRCV000031470RCV000044373RCV000215029RCV000480509RCV003473172RCV004532442
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter) SNV
Germline		 Chr13:32338598 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
8 conditions
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA019770 rs_397507327

14 SubmittersRCV000031471RCV000219707RCV000510028RCV000762917RCV001385296RCV003460510
NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp) SNV
Germline		 Chr13:32338671 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019966 rs_80358667

12 SubmittersRCV000031474RCV000131416RCV000212234RCV000656795RCV001316319
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu) SNV
Germline		 Chr13:32338712 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
8 conditions
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA020036 rs_397507330

12 SubmittersRCV000119103RCV000166887RCV000204586RCV000589133RCV001358664RCV002477033RCV003483438
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser) SNV
Germline		 Chr13:32338731 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
Invasive lobular breast carcinoma
Ovarian cancer
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA020060 rs_117187202

13 SubmittersRCV000031479RCV000044400RCV000166927RCV000240790RCV000481899RCV000677823RCV000677824RCV003234931RCV002250488
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg) SNV
Germline		 Chr13:32338929 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions		 Criteria Provided
Conflicting Classifications
 CA020478 rs_397507336

6 SubmittersRCV000031490RCV000214334RCV000229506RCV002490437
NM_000059.4(BRCA2):c.4594G>T (p.Val1532Phe) SNV
Germline		 Chr13:32338949 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA020521 rs_80358693

7 SubmittersRCV000031492RCV001343720RCV002336100
NM_000059.4(BRCA2):c.4637T>C (p.Phe1546Ser) SNV
Germline		 Chr13:32338992 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA020566 rs_397507337

7 SubmittersRCV000031495RCV000132332RCV001044392RCV002269258
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr) SNV
Germline		 Chr13:32326139 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions		 Criteria Provided
Conflicting Classifications
 CA020592 rs_377639990

9 SubmittersRCV000031497RCV000160022RCV000199441RCV000582907RCV000656793RCV002477034
NM_000059.4(BRCA2):c.4741G>A (p.Glu1581Lys) SNV
Germline		 Chr13:32339096 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA020741 rs_368952892

11 SubmittersRCV000031501RCV000165611RCV000637419RCV004525860
NM_000059.4(BRCA2):c.476-1G>A SNV
Germline		 Chr13:32326241 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA020789 rs_397507340

5 SubmittersRCV000031503RCV000772115RCV003529925
NM_000059.4(BRCA2):c.476-2A>G SNV
Germline		 Chr13:32326240 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast		 Reviewed By Expert Panel
 CA020792 rs_81002853

13 SubmittersRCV000031504RCV000131855RCV000506489RCV001387341RCV001271039RCV003473180
NM_000059.4(BRCA2):c.476-3C>T SNV
Germline		 Chr13:32326239 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA020799 rs_371431745

9 SubmittersRCV000031506RCV000132383RCV000438966RCV000559561RCV001719709RCV001356001RCV004541039
NM_000059.4(BRCA2):c.4819A>G (p.Ile1607Val) SNV
Germline		 Chr13:32339174 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA020868 rs_200582465

11 SubmittersRCV000031507RCV000221701RCV000221891RCV000233915RCV000657070
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met) SNV
Germline		 Chr13:32339183 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA020880 rs_80358705

16 SubmittersRCV000031508RCV000044498RCV000074530RCV000130783RCV001112023RCV001353552RCV003492312
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn) SNV
Germline		 Chr13:32339205 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA020915 rs_397507341

11 SubmittersRCV000031509RCV000166443RCV000437440RCV000697920RCV001703438
NM_000059.4(BRCA2):c.4905G>T (p.Leu1635Phe) SNV
Germline		 Chr13:32339260 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA020991 rs_397507342

7 SubmittersRCV000031511RCV000461109RCV000581537
NM_000059.4(BRCA2):c.4910T>G (p.Val1637Gly) SNV
Germline		 Chr13:32339265 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020995 rs_397507343

4 SubmittersRCV000031512RCV000130557RCV001228952
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile) SNV
Germline		 Chr13:32339270 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA020999 rs_80358716

12 SubmittersRCV000031513RCV000129029RCV000240704RCV000587911RCV001083151RCV004562220
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) SNV
Germline		 Chr13:32339320 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
not specified
8 conditions
Neoplasm of ovary
Fanconi anemia complementation group D1
Malignant tumor of breast
Familial cancer of breast		 Reviewed By Expert Panel
 CA021070 rs_80358721

28 SubmittersRCV000031517RCV000044533RCV000128925RCV000194794RCV000195354RCV000496311RCV000762918RCV000785221RCV001269282RCV001353669RCV003473182
NM_000059.4(BRCA2):c.4979C>T (p.Pro1660Leu) SNV
Germline		 Chr13:32339334 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021095 rs_397507345

4 SubmittersRCV000031518RCV000166270RCV001042145
NM_000059.4(BRCA2):c.5000C>G (p.Ser1667Ter) SNV
Germline		 Chr13:32339355 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA021122 rs_397507346

4 SubmittersRCV000031519RCV000582842RCV001042671
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) SNV
Germline		 Chr13:32326272 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Condition: not provided
Breast and/or ovarian cancer
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA021201 rs_80358730

17 SubmittersRCV000031522RCV000044547RCV000074532RCV000129126RCV001111540RCV001281705RCV001798044RCV004541040
NM_000059.4(BRCA2):c.5080A>T (p.Arg1694Ter) SNV
Germline		 Chr13:32339435 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA021220 rs_200265692

7 SubmittersRCV000031525RCV000255681RCV001035630RCV001186724
NM_000059.4(BRCA2):c.5084A>G (p.Glu1695Gly) SNV
Germline		 Chr13:32339439 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA021226 rs_397507347

6 SubmittersRCV000031526RCV000173968RCV000805560RCV001023510
NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys) SNV
Germline		 Chr13:32339519 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 2
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA021504 rs_80358741

9 SubmittersRCV000031529RCV000218602RCV000637658RCV001787821RCV001800326RCV002247403
NM_000059.4(BRCA2):c.5227A>T (p.Ser1743Cys) SNV
Germline		 Chr13:32339582 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA021787 rs_397507348

3 SubmittersRCV000031533RCV001247955RCV003156727
NM_000059.4(BRCA2):c.5423T>C (p.Ile1808Thr) SNV
Germline		 Chr13:32339778 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022301 rs_397507350

11 SubmittersRCV000031545RCV000217283RCV000432442RCV000587412RCV000697860
NM_000059.4(BRCA2):c.5474C>T (p.Ala1825Val) SNV
Germline		 Chr13:32339829 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022409 rs_397507352

10 SubmittersRCV000031549RCV000222134RCV000420987RCV000457281RCV001281723
NM_000059.4(BRCA2):c.5495C>G (p.Ser1832Cys) SNV
Germline		 Chr13:32339850 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022446 rs_138489917

10 SubmittersRCV000031550RCV000120329RCV000129225RCV000470070RCV001284573
NM_000059.4(BRCA2):c.551T>C (p.Leu184Pro) SNV
Germline		 Chr13:32326533 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA022493 rs_80358775

10 SubmittersRCV000031552RCV000200973RCV001024218RCV001413498RCV002271380RCV004566771
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile) SNV
Germline		 Chr13:32339909 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA022546 rs_80358777

15 SubmittersRCV000031554RCV000044680RCV000164924RCV000656609RCV001193956
NM_000059.4(BRCA2):c.5575A>G (p.Ile1859Val) SNV
Germline		 Chr13:32339930 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022595 rs_397507354

11 SubmittersRCV000031555RCV000166864RCV000229983RCV000590140
NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter) SNV
Germline		 Chr13:32339969 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA022708 rs_80358783

13 SubmittersRCV000044696RCV000113450RCV000162926RCV000212241RCV003473191
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) SNV
Germline		 Chr13:32340000 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast and/or ovarian cancer
not specified
Neoplasm of ovary
Breast carcinoma
Metastatic Prostate Small Cell Carcinoma
Malignant tumor of prostate
Gastric cancer
8 conditions
BRCA2-related disorder		 Reviewed By Expert Panel
 CA022818 rs_80358785

43 SubmittersRCV000031565RCV000044705RCV000131114RCV000240722RCV000167830RCV000585709RCV000735569RCV001002489RCV000785224RCV001799612RCV001281099RCV003162274RCV002496484RCV003483439
NM_000059.4(BRCA2):c.5655C>A (p.Cys1885Ter) SNV
Germline		 Chr13:32340010 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA022870 rs_80358789

13 SubmittersRCV000031566RCV000044709RCV000160093RCV000220539
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly) SNV
Germline		 Chr13:32326548 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA022922 rs_397507359

6 SubmittersRCV000031567RCV000542458RCV000567705RCV001526904
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val) SNV
Germline		 Chr13:32340027 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions		 Criteria Provided
Conflicting Classifications
 CA022933 rs_397507360

9 SubmittersRCV000031568RCV000460706RCV000562290RCV000758912RCV002477036
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) SNV
Germline		 Chr13:32340037 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
9 conditions
Breast and/or ovarian cancer
Neoplasm of ovary
Familial cancer of breast
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA022962 rs_41293497

39 SubmittersRCV000031570RCV000044719RCV000131121RCV000160095RCV000148424RCV000515199RCV000735572RCV000785225RCV002250489RCV002477037RCV003493419
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro) SNV
Germline		 Chr13:32340078 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023052 rs_80358797

12 SubmittersRCV000031572RCV000220622RCV001486114RCV002468982RCV001689581RCV001798048
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg) SNV
Germline		 Chr13:32340092 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA023103 rs_80358799

12 SubmittersRCV000031573RCV000044738RCV000132499RCV000212244RCV000586429RCV002272032
NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter) SNV
Germline		 Chr13:32340137 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast		 Reviewed By Expert Panel
 CA023221 rs_56253082

11 SubmittersRCV000031577RCV000044754RCV000581432RCV001356842RCV003460518
NM_000059.4(BRCA2):c.582G>A (p.Trp194Ter) SNV
Germline/somatic		 Chr13:32326564 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA023281 rs_80358810

8 SubmittersRCV000031581RCV000562057RCV001387735RCV003332089
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter) SNV
Germline		 Chr13:32340210 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA023306 rs_375064902

7 SubmittersRCV000031583RCV000149889RCV000563543
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn) SNV
Germline		 Chr13:32340237 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023336 rs_80358820

13 SubmittersRCV000031585RCV000044784RCV000128953RCV000439783RCV001703439
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr) SNV
Germline		 Chr13:32340251 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023347 rs_80358822

15 SubmittersRCV000031586RCV000044787RCV000131689RCV000225745RCV001356911RCV001800329
NM_000059.4(BRCA2):c.5897A>G (p.His1966Arg) SNV
Germline		 Chr13:32340252 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA023349 rs_80358823

10 SubmittersRCV000031587RCV000130475RCV000586187RCV001083441RCV002509172
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter) SNV
Germline		 Chr13:32340264 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Familial cancer of breast		 Reviewed By Expert Panel
 CA023362 rs_80358824

22 SubmittersRCV000031588RCV000131108RCV000255943RCV000257911RCV000735577RCV001354008RCV003460519
NM_000059.4(BRCA2):c.5909C>T (p.Ser1970Leu) SNV
Germline		 Chr13:32340264 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023364 rs_80358824

5 SubmittersRCV000031589RCV000228606RCV000583874
NM_000059.4(BRCA2):c.5937C>G (p.Ser1979Arg) SNV
Germline		 Chr13:32340292 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023388 rs_28897737

12 SubmittersRCV000031590RCV000167183RCV000168414RCV000587913RCV001268976RCV001798049
NM_000059.4(BRCA2):c.5945G>C (p.Ser1982Thr) SNV
Germline		 Chr13:32340300 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA023396 rs_28897738

10 SubmittersRCV000044796RCV000113507RCV000203657RCV000510094RCV000590082RCV003483440
NM_000059.4(BRCA2):c.5980C>T (p.Gln1994Ter) SNV
Germline		 Chr13:32340335 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Gastric cancer		 Reviewed By Expert Panel
 CA023442 rs_80358831

10 SubmittersRCV000031592RCV000044810RCV000457725RCV000758915RCV000772034RCV003162276
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser) SNV
Germline		 Chr13:32340341 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
8 conditions
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023458 rs_80358833

8 SubmittersRCV000031593RCV000501578RCV000763892RCV000637722RCV001024750
NM_000059.4(BRCA2):c.6020C>A (p.Thr2007Asn) SNV
Germline		 Chr13:32340375 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023530 rs_397507363

8 SubmittersRCV000031595RCV001024817RCV000803896
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) SNV
Germline		 Chr13:32340392 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast		 Reviewed By Expert Panel
 CA023562 rs_80358840

21 SubmittersRCV000031597RCV000044827RCV000131111RCV000217667RCV000506478RCV003473197
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro) SNV
Germline		 Chr13:32340480 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA023678 rs_80358852

11 SubmittersRCV000031599RCV000131951RCV000203091RCV000587844RCV002265571
NM_000059.4(BRCA2):c.6125A>G (p.Gln2042Arg) SNV
Germline		 Chr13:32340480 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA023680 rs_80358852

9 SubmittersRCV000031600RCV000160108RCV000200820RCV000219164RCV000779953
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) SNV
Germline		 Chr13:32340486 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Fanconi anemia complementation group D1
not specified		 Criteria Provided
Conflicting Classifications
 CA023684 rs_56191579

17 SubmittersRCV000031601RCV000166682RCV000586884RCV001085159RCV001353819RCV000768600RCV001330945RCV004562221
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) SNV
Germline		 Chr13:32340486 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023686 rs_56191579

16 SubmittersRCV000031602RCV000044854RCV000130525RCV000421588RCV000413633RCV001086174RCV001112564RCV001358172RCV003492315
NM_000059.4(BRCA2):c.6188G>A (p.Gly2063Glu) SNV
Germline		 Chr13:32340543 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023726 rs_397507364

4 SubmittersRCV000031604RCV000164734RCV001059846
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile) SNV
Germline		 Chr13:32340551 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA023729 rs_397507365

12 SubmittersRCV000031605RCV000132349RCV000476966RCV000588799RCV000855632
NM_000059.4(BRCA2):c.6199T>A (p.Ser2067Thr) SNV
Germline		 Chr13:32340554 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023733 rs_143806921

5 SubmittersRCV000031606RCV000509673RCV000507742RCV000700945
NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter) SNV
Germline		 Chr13:32340561 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA023746 rs_80358859

15 SubmittersRCV000044867RCV000031607RCV000486394RCV000568590RCV003473198
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys) SNV
Germline		 Chr13:32340570 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA023758 rs_80358862

15 SubmittersRCV000031608RCV000044872RCV000120333RCV000130542RCV000769699RCV000766634RCV004532452
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg) SNV
Germline		 Chr13:32340624 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023799 rs_397507366

12 SubmittersRCV000031611RCV000562031RCV001214226RCV001284435RCV001175040RCV001354947RCV003492316
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg) SNV
Germline		 Chr13:32316522 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA023837 rs_397507367

12 SubmittersRCV000031614RCV000129552RCV000122923RCV000656792RCV001193807RCV001357067
NM_000059.4(BRCA2):c.6313A>G (p.Ile2105Val) SNV
Germline		 Chr13:32340668 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023857 rs_397507368

4 SubmittersRCV000031616RCV000637370RCV001025126
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu) SNV
Germline		 Chr13:32326613 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA023872 rs_80358871

10 SubmittersRCV000031617RCV000562565RCV000438397RCV001328441
NM_000059.4(BRCA2):c.6344A>G (p.Glu2115Gly) SNV
Germline		 Chr13:32340699 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023933 rs_397507370

4 SubmittersRCV000031622RCV001351427RCV002257368
NM_000059.4(BRCA2):c.6441C>G (p.His2147Gln) SNV
Germline		 Chr13:32340796 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA024038 rs_80358879

7 SubmittersRCV000031627RCV000044948RCV000496559RCV001025273
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg) SNV
Germline		 Chr13:32340896 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA024155 rs_371067421

10 SubmittersRCV000031633RCV000205463RCV000420330RCV000567616RCV000586226
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) SNV
Germline		 Chr13:32340915 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA024168 rs_56019712

15 SubmittersRCV000031634RCV000044985RCV000129413RCV000589601RCV001109884RCV001081092RCV003492317
NM_000059.4(BRCA2):c.6567C>G (p.Asn2189Lys) SNV
Germline		 Chr13:32340922 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA024178 rs_397507374

6 SubmittersRCV000031636RCV000695101RCV001566342RCV002362602
NM_000059.4(BRCA2):c.67+4T>C SNV
Germline		 Chr13:32316531 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA024375 rs_373546450

9 SubmittersRCV000031643RCV000130680RCV000228347RCV001723595
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly) SNV
Germline		 Chr13:32341094 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024359 rs_80358896

14 SubmittersRCV000031645RCV000045034RCV000163090RCV000587555RCV001079936RCV003607207
NM_000059.4(BRCA2):c.682-13A>G SNV
Germline		 Chr13:32330906 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA024454 rs_81002888

9 SubmittersRCV000031650RCV000045062RCV000608940RCV001188330
NM_000059.4(BRCA2):c.688A>T (p.Lys230Ter) SNV
Germline		 Chr13:32330925 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA024542 rs_80358913

9 SubmittersRCV000031654RCV000221860RCV000496274RCV003473206
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) SNV
Germline/somatic		 Chr13:32346841 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Condition: not provided
Neoplasm of ovary
8 conditions
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Gastric cancer
BRCA2-related disorder		 Reviewed By Expert Panel
 CA024619 rs_80358920

34 SubmittersRCV000031658RCV000045095RCV000240678RCV000212256RCV000785228RCV000763325RCV000569398RCV001262534RCV003162279RCV003483441
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) SNV
Germline		 Chr13:32346896 Pathogenic Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
8 conditions		 Reviewed By Expert Panel
 CA024713 rs_28897743

33 SubmittersRCV000009923RCV000031659RCV000045112RCV000131031RCV000174440RCV000475925RCV000735595RCV002496486
NM_000059.4(BRCA2):c.7096C>G (p.Leu2366Val) SNV
Germline		 Chr13:32354949 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA024864 rs_80358941

10 SubmittersRCV000031665RCV000164923RCV000225749RCV000679185RCV002265572
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val) SNV
Germline		 Chr13:32354955 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA024871 rs_397507382

13 SubmittersRCV000031666RCV000206651RCV000132508RCV000445338RCV002250491RCV001711136RCV001353652RCV003492318RCV004532455
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter) SNV
Germline		 Chr13:32354986 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Rhabdomyosarcoma
Familial cancer of breast		 Reviewed By Expert Panel
 CA024895 rs_276174889

12 SubmittersRCV000031667RCV000045148RCV000216056RCV000478738RCV001257550RCV003460526
NM_000059.4(BRCA2):c.7258G>T (p.Glu2420Ter) SNV
Germline		 Chr13:32355111 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA025002 rs_397507385

5 SubmittersRCV000031671RCV000045178RCV000221529
NM_000059.4(BRCA2):c.7435+6G>A SNV
Germline		 Chr13:32355294 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025080 rs_81002852

25 SubmittersRCV000031678RCV000168598RCV000167780RCV000210777RCV000679187RCV000768633RCV004528144
NM_000059.4(BRCA2):c.7436-4A>G SNV
Germline		 Chr13:32356424 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025086 rs_81002904

16 SubmittersRCV000031679RCV000164776RCV000168599RCV000768634RCV001084165RCV001353462RCV004532456
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly) SNV
Germline		 Chr13:32356458 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025100 rs_80358970

11 SubmittersRCV000031680RCV000131769RCV000212259RCV001171393RCV001300377RCV004566777
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) SNV
Germline		 Chr13:32356472 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Carcinoma of pancreas
Gastric cancer
Familial cancer of breast		 Reviewed By Expert Panel
 CA025108 rs_80358972

35 SubmittersRCV000031681RCV000045227RCV000131084RCV000225750RCV002477038RCV001391218RCV003162280RCV003460528
NM_000059.4(BRCA2):c.7499G>C (p.Arg2500Thr) SNV
Germline		 Chr13:32356491 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025119 rs_80358976

7 SubmittersRCV000031682RCV000045232RCV000129357RCV000203647RCV001719711
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe) SNV
Germline		 Chr13:32356557 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Chordoma		 Criteria Provided
Conflicting Classifications
 CA025154 rs_80358985

10 SubmittersRCV000031686RCV000045249RCV000162600RCV000587666RCV002266908
NM_000059.4(BRCA2):c.7598C>G (p.Ser2533Cys) SNV
Germline		 Chr13:32356590 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA025173 rs_80358987

9 SubmittersRCV000031690RCV000045255RCV000130650RCV000214587RCV001194022
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val) SNV
Germline		 Chr13:32356593 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA025174 rs_74047012

16 SubmittersRCV000031691RCV000220233RCV000590175RCV001085066RCV004541047RCV002267807
NM_000059.4(BRCA2):c.7618-1G>A SNV
Germline		 Chr13:32357741 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025188 rs_397507389

16 SubmittersRCV000031692RCV000045265RCV000131688RCV000195358RCV000474278RCV001171446
NM_000059.4(BRCA2):c.7643A>G (p.His2548Arg) SNV
Germline		 Chr13:32357767 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025208 rs_80358992

8 SubmittersRCV000031694RCV000045275RCV000129573RCV001193722RCV004566778
NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter) SNV
Germline/somatic		 Chr13:32357882 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder
Familial cancer of breast		 Reviewed By Expert Panel
 CA025260 rs_80359004

18 SubmittersRCV000031698RCV000255811RCV000569377RCV000496860RCV003332090RCV004566779
NM_000059.4(BRCA2):c.784G>A (p.Ala262Thr) SNV
Germline		 Chr13:32331021 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025308 rs_397507393

6 SubmittersRCV000031703RCV000216411RCV000230620RCV002281725RCV003476911
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter) SNV
Germline		 Chr13:32362574 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Rhabdomyosarcoma
Familial cancer of breast		 Reviewed By Expert Panel
 CA025311 rs_80359011

15 SubmittersRCV000031704RCV000162936RCV000521372RCV000496960RCV001353730RCV001257551RCV003473212
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) SNV
Germline		 Chr13:32362585 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Malignant tumor of breast
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025314 rs_80359012

14 SubmittersRCV000031705RCV000131271RCV000045333RCV000505960RCV000480661RCV001353877RCV003322593
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter) SNV
Germline/somatic		 Chr13:32362595 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
BRCA2-related disorder
Familial cancer of breast		 Reviewed By Expert Panel
 CA025318 rs_80359013

15 SubmittersRCV000031706RCV000045335RCV000237084RCV000217125RCV001353668RCV004528145RCV003473213
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) SNV
Germline		 Chr13:32362595 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
Uterine corpus cancer
8 conditions		 Reviewed By Expert Panel
 CA025319 rs_80359013

26 SubmittersRCV000031707RCV000045336RCV000163025RCV000482471RCV001357728RCV001271059RCV002288525RCV003128132RCV002504846
NM_000059.4(BRCA2):c.7963C>T (p.Gln2655Ter) SNV
Germline		 Chr13:32362680 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025356 rs_397507395

5 SubmittersRCV000031710RCV001178396RCV003529926
NM_000059.4(BRCA2):c.7974C>G (p.Tyr2658Ter) SNV
Germline		 Chr13:32362691 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA025361 rs_80359025

11 SubmittersRCV000031711RCV001723596RCV002514125RCV004018694
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) SNV
Germline		 Chr13:32362692 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA025362 rs_80359026

12 SubmittersRCV000031712RCV000572654RCV001268917RCV001325838RCV002247404
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) SNV
Germline		 Chr13:32362693 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Neoplasm of ovary
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast
BRCA2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025368 rs_80359027

30 SubmittersRCV000031713RCV000045366RCV000131687RCV000212266RCV000785230RCV001171449RCV001358381RCV003473214RCV004541048
NM_000059.4(BRCA2):c.7977-1G>C SNV
Germline		 Chr13:32363178 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition		 Reviewed By Expert Panel
 CA025372 rs_81002874

20 SubmittersRCV000031714RCV000045368RCV000162588RCV000507368RCV000486971RCV003473215RCV003483442RCV004566780
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro) SNV
Germline		 Chr13:32363265 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025432 rs_80359045

9 SubmittersRCV000031719RCV000045408RCV000219486RCV000505844
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) SNV
Germline		 Chr13:32363294 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Inherited breast cancer and ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA025451 rs_80359052

19 SubmittersRCV000031720RCV000074554RCV000129982RCV000531554RCV000755863RCV001354237RCV003607208RCV004584180
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser) SNV
Germline		 Chr13:32363319 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Chordoma		 Criteria Provided
Conflicting Classifications
 CA025459 rs_80359055

16 SubmittersRCV000031721RCV000164845RCV000424555RCV000588306RCV001086095RCV001798053RCV002266909
NM_000059.4(BRCA2):c.8153T>C (p.Ile2718Thr) SNV
Germline		 Chr13:32363355 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025473 rs_80359060

9 SubmittersRCV000031722RCV000045432RCV000583191RCV002305440
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly) SNV
Germline		 Chr13:32363370 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Gastric cancer
Familial cancer of breast		 Reviewed By Expert Panel
 CA025484 rs_41293513

15 SubmittersRCV000031724RCV000131682RCV000216099RCV000781040RCV001271062RCV003162282RCV003460531
NM_000059.4(BRCA2):c.825A>T (p.Lys275Asn) SNV
Germline		 Chr13:32332303 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA025544 rs_397507399

10 SubmittersRCV000031730RCV000131188RCV000257932RCV001283942RCV001797593
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp) SNV
Germline		 Chr13:32363511 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025562 rs_28897750

11 SubmittersRCV000031734RCV000130809RCV000218650RCV000637597RCV001192649
NM_000059.4(BRCA2):c.8331+1G>A SNV
Germline		 Chr13:32363534 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025578 rs_81002837

7 SubmittersRCV000031737RCV000166511RCV000212272RCV001390937RCV002250494
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) SNV
Germline		 Chr13:32370420 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Chordoma
BRCA2-related disorder
Breast and/or ovarian cancer
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025593 rs_80359075

24 SubmittersRCV000031738RCV000045487RCV000131691RCV000392114RCV001267731RCV002266910RCV004532460RCV003149602RCV003473218
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His) SNV
Germline/somatic		 Chr13:32370430 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025601 rs_80359078

14 SubmittersRCV000031739RCV000214554RCV000212273RCV001174961RCV001442600
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) SNV
Germline		 Chr13:32370448 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025614 rs_80359083

14 SubmittersRCV000031740RCV000045500RCV000165807RCV000679191RCV003473219
NM_000059.4(BRCA2):c.8378G>T (p.Gly2793Val) SNV
Germline		 Chr13:32370448 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025615 rs_80359083

6 SubmittersRCV000031741RCV000569751RCV003993754
NM_000059.4(BRCA2):c.8464A>T (p.Ile2822Phe) SNV
Germline		 Chr13:32370534 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025658 rs_397507403

3 SubmittersRCV000031743RCV000222998RCV001852626
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) SNV
Germline		 Chr13:32370556 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025666 rs_80359100

12 SubmittersRCV000031744RCV000590582RCV000510027RCV001284445RCV001170976
NM_000059.4(BRCA2):c.8487+1G>T SNV
Germline		 Chr13:32370558 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025671 rs_81002798

3 SubmittersRCV000031745RCV000694757RCV002444449
NM_000059.4(BRCA2):c.8488-1G>A SNV
Germline		 Chr13:32370955 Pathogenic Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Familial cancer of breast
Gastric cancer
BRCA2-related disorder		 Reviewed By Expert Panel
 CA025677 rs_397507404

26 SubmittersRCV000009920RCV000031747RCV000160152RCV000213906RCV000231355RCV000763329RCV003473221RCV003162283RCV002221480
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) SNV
Germline		 Chr13:32371035 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA025712 rs_11571747

37 SubmittersRCV000031751RCV000034464RCV000131022RCV000152885RCV000167825RCV000371112RCV000735613
NM_000059.4(BRCA2):c.8593T>G (p.Leu2865Val) SNV
Germline		 Chr13:32371061 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025727 rs_80359117

6 SubmittersRCV000031754RCV000574991RCV001321925RCV001551308
NM_000059.4(BRCA2):c.8633-4T>A SNV
Germline		 Chr13:32376666 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025751 rs_397507407

9 SubmittersRCV000031756RCV000122935RCV000132191RCV000442944RCV001353567RCV003237417
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser) SNV
Germline		 Chr13:32376684 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025759 rs_80359122

11 SubmittersRCV000031758RCV000045590RCV000417546RCV000567301RCV001703441
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp) SNV
Germline		 Chr13:32332343 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA025766 rs_766173

14 SubmittersRCV000031759RCV000045592RCV000164485RCV000589996RCV001798054RCV003488352
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter) SNV
Germline		 Chr13:32376714 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
8 conditions		 Reviewed By Expert Panel
 CA025776 rs_397507409

14 SubmittersRCV000031760RCV000045600RCV000413575RCV001018169RCV003448249RCV002482934
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter) SNV
Germline		 Chr13:32376732 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA025783 rs_397507411

12 SubmittersRCV000031762RCV000045603RCV000506732RCV000566353RCV000779984RCV001269805
NM_000059.4(BRCA2):c.8754+5G>A SNV
Germline		 Chr13:32376796 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025807 rs_81002813

11 SubmittersRCV000031765RCV000571571RCV001573455RCV001852628
NM_000059.4(BRCA2):c.8755-1G>A SNV
Germline		 Chr13:32379316 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Carcinoma of pancreas
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA025812 rs_81002812

25 SubmittersRCV000031766RCV000131043RCV000238986RCV000220836RCV001310186RCV001357980RCV001391220RCV001529355RCV003473223
NM_000059.4(BRCA2):c.8755-9T>A SNV
Germline		 Chr13:32379308 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025815 rs_397507413

3 SubmittersRCV000031767RCV001018281RCV000811752
NM_000059.4(BRCA2):c.8755-9T>C SNV
Germline		 Chr13:32379308 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025816 rs_397507413

6 SubmittersRCV000031768RCV000766305RCV000773154RCV001081949
NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln) SNV
Germline		 Chr13:32379428 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025854 rs_142040996

10 SubmittersRCV000031771RCV000220440RCV000589427RCV000690405RCV004566782
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala) SNV
Germline		 Chr13:32379429 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025855 rs_151174152

12 SubmittersRCV000031772RCV000130252RCV000476614RCV000781140RCV000985609RCV004532462
NM_000059.4(BRCA2):c.8869C>T (p.Gln2957Ter) SNV
Germline		 Chr13:32379431 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA025856 rs_276174913

10 SubmittersRCV000031773RCV001018424RCV001174641RCV001798055
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys) SNV
Germline		 Chr13:32332365 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025860 rs_45457795

12 SubmittersRCV000031774RCV000129101RCV000168545RCV000588297RCV001086214
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His) SNV
Germline		 Chr13:32379480 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Neuroblastoma
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA025874 rs_80359143

15 SubmittersRCV000031777RCV000128971RCV000587937RCV000761134RCV000505714RCV001082957RCV000770734
NM_000059.4(BRCA2):c.8951C>G (p.Ser2984Ter) SNV
Germline		 Chr13:32379513 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA025886 rs_80359146

7 SubmittersRCV000114019RCV000496423RCV002371797
NM_000059.4(BRCA2):c.8953+1G>T SNV
Germline		 Chr13:32379516 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA025890 rs_81002882

19 SubmittersRCV000031781RCV000131051RCV000213611RCV000254648RCV003473224
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) SNV
Germline		 Chr13:32379800 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025920 rs_80359152

24 SubmittersRCV000031784RCV000045685RCV000130642RCV000195385RCV000735616RCV001353997RCV002247405
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp) SNV
Germline		 Chr13:32379812 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025928 rs_397507416

8 SubmittersRCV000031785RCV000132244RCV000465067RCV000507532RCV001775545RCV004566783
NM_000059.4(BRCA2):c.9019A>G (p.Arg3007Gly) SNV
Germline		 Chr13:32379815 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Malignant tumor of breast
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025931 rs_397507417

12 SubmittersRCV000031786RCV000160163RCV000167961RCV000167398RCV000735617RCV000766653RCV001353884RCV004532463
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter) SNV
Germline		 Chr13:32379872 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
Familial cancer of breast
BRCA2-related disorder
Gastric cancer		 Reviewed By Expert Panel
 CA025962 rs_80359159

21 SubmittersRCV000031790RCV000045706RCV000131038RCV000413921RCV000735618RCV001353572RCV003473225RCV004532464RCV003162284
NM_000059.4(BRCA2):c.9101A>G (p.Gln3034Arg) SNV
Germline		 Chr13:32379897 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025979 rs_80359164

11 SubmittersRCV000031793RCV000045716RCV000132242RCV000481121RCV000657016RCV001375581RCV004566784
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) SNV
Germline		 Chr13:32379900 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA025980 rs_80359165

19 SubmittersRCV000031794RCV000045717RCV000120368RCV000130861RCV000589726RCV000735620RCV001353989
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu) SNV
Germline		 Chr13:32379902 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Familial cancer of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA025983 rs_202155613

12 SubmittersRCV000031795RCV000074559RCV000223314RCV000289162RCV000344086RCV002250496RCV002271381
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg) SNV
Germline		 Chr13:32379912 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA025987 rs_80359167

9 SubmittersRCV000031796RCV000130896RCV000213291RCV000707640RCV003492320
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) SNV
Germline		 Chr13:32379913 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
9 conditions
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
8 conditions
Breast carcinoma
Breast-ovarian cancer, familial, susceptibility to, 1
Gastric cancer
BRCA2-related cancer predisposition
Familial cancer of breast		 Reviewed By Expert Panel
 CA025994 rs_28897756

34 SubmittersRCV000031798RCV000045725RCV000074560RCV000131039RCV000515207RCV001171453RCV000763330RCV001554310RCV001310189RCV003162286RCV004566785RCV003473227
NM_000059.4(BRCA2):c.9118-6C>T SNV
Germline		 Chr13:32380001 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025997 rs_81002890

6 SubmittersRCV000031799RCV000439624RCV001423115
NM_000059.4(BRCA2):c.9155G>A (p.Arg3052Gln) SNV
Germline/somatic		 Chr13:32380044 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA026007 rs_80359171

12 SubmittersRCV000031800RCV000045733RCV000131685RCV000768640RCV001086321RCV004532466RCV003332091
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) SNV
Germline		 Chr13:32380131 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026046 rs_80359189

13 SubmittersRCV000031805RCV000045755RCV000129976RCV000203623RCV001284113
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro) SNV
Germline		 Chr13:32380142 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA026053 rs_397507423

11 SubmittersRCV000031807RCV000509957RCV000439515RCV000557691RCV000587457RCV004532468
NM_000059.4(BRCA2):c.9294C>A (p.Tyr3098Ter) SNV
Germline		 Chr13:32394726 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA026093 rs_80359200

10 SubmittersRCV000031811RCV000496360RCV002371799
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) SNV
Germline		 Chr13:32394726 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
8 conditions		 Reviewed By Expert Panel
 CA026094 rs_80359200

24 SubmittersRCV000031812RCV000045784RCV000074562RCV000131041RCV000210096RCV000465472RCV000763331
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) SNV
Germline		 Chr13:32394734 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
NICE approved PARP inhibitor treatment		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026098 rs_28897758

15 SubmittersRCV000031813RCV000045787RCV000162632RCV000657062RCV001798057RCV003473230RCV004584181
NM_000059.4(BRCA2):c.9320T>C (p.Ile3107Thr) SNV
Germline		 Chr13:32394752 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026104 rs_397507425

4 SubmittersRCV000031814RCV000164259RCV001202106
NM_000059.4(BRCA2):c.9353T>C (p.Met3118Thr) SNV
Germline		 Chr13:32394785 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast neoplasm
not specified
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA026112 rs_56204128

14 SubmittersRCV000031815RCV000045797RCV000131368RCV000148437RCV000484041RCV001508342RCV004541053
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) SNV
Germline		 Chr13:32394803 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Malignant tumor of breast		 Reviewed By Expert Panel
 CA026119 rs_28897759

38 SubmittersRCV000031816RCV000045802RCV000130337RCV000505786RCV000585706RCV001310163RCV001271066RCV001353921
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter) SNV
Germline		 Chr13:32394812 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast		 Reviewed By Expert Panel
 CA026126 rs_80359211

15 SubmittersRCV000031818RCV000131047RCV000485069RCV000781092RCV001355462RCV001798058RCV003473232
NM_000059.4(BRCA2):c.9383G>A (p.Arg3128Gln) SNV
Germline		 Chr13:32394815 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026128 rs_397507427

7 SubmittersRCV000031819RCV000130023RCV000500827RCV000705810RCV000985626
NM_000059.4(BRCA2):c.938C>T (p.Ser313Phe) SNV
Germline		 Chr13:32332416 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026132 rs_397507428

11 SubmittersRCV000031821RCV000129312RCV000467684RCV001251312RCV003234932
NM_000059.4(BRCA2):c.9523G>T (p.Glu3175Ter) SNV
Germline		 Chr13:32396919 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder		 Reviewed By Expert Panel
 CA026199 rs_397507430

8 SubmittersRCV000031829RCV000496351RCV002371800RCV003483443
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) SNV
Germline		 Chr13:32332434 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Fanconi anemia complementation group D1		 Criteria Provided
Conflicting Classifications
 CA026214 rs_55939572

18 SubmittersRCV000031831RCV000045855RCV000162692RCV000735629RCV000758980RCV001083417RCV001357124RCV001109312
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln) SNV
Germline		 Chr13:32396977 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA026221 rs_28897760

11 SubmittersRCV000031833RCV000045860RCV000160173RCV000131306RCV001719713RCV004532471
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) SNV
Germline		 Chr13:32396982 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Breast neoplasm
Breast and/or ovarian cancer
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA026224 rs_80359228

16 SubmittersRCV000031834RCV000045862RCV000129724RCV000148420RCV000735631RCV000586984RCV001080657RCV001269375
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter) SNV
Germline		 Chr13:32396995 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA026227 rs_80359230

10 SubmittersRCV000031836RCV000519756RCV000496835RCV001019520RCV003473235
NM_000059.4(BRCA2):c.9605C>T (p.Pro3202Leu) SNV
Germline		 Chr13:32397001 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026229 rs_397507432

8 SubmittersRCV000031837RCV000196044RCV000216276RCV000436771RCV001703442
NM_000059.4(BRCA2):c.9616C>G (p.Gln3206Glu) SNV
Germline		 Chr13:32397012 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA026236 rs_80359233

9 SubmittersRCV000031838RCV000045868RCV000217224RCV001582503RCV004566788
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr) SNV
Germline		 Chr13:32332449 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA026281 rs_397507435

12 SubmittersRCV000031844RCV000130515RCV000457938RCV000985254RCV001193321RCV004532472
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu) SNV
Germline		 Chr13:32398241 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA026285 rs_80359241

16 SubmittersRCV000031845RCV000045892RCV000166251RCV000167844RCV000587179RCV000735633RCV001353590RCV004532473
NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val) SNV
Germline		 Chr13:32398447 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA026337 rs_80359254

10 SubmittersRCV000031848RCV000482595RCV000573263RCV001315624RCV001264611
NM_002880.4(RAF1):c.788T>C (p.Val263Ala) SNV
Germline/somatic		 Chr3:12604182 Pathogenic/Likely pathogenic Noonan syndrome
Condition: not provided
RASopathy
Cardiovascular phenotype
Noonan syndrome 5
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16602249 rs_397516830

6 SubmittersRCV000442596RCV000680627RCV000686662RCV002408497RCV003137555RCV004525861
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val) SNV
Germline		 Chr13:32337917 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA018345 rs_202230438

9 SubmittersRCV000034438RCV000132042RCV000465606RCV003996168RCV004562224
NM_000059.4(BRCA2):c.5554G>T (p.Val1852Phe) SNV
Germline		 Chr13:32339909 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022551 rs_80358777

4 SubmittersRCV000034448RCV001304476RCV002345269
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) SNV
Germline		 Chr13:32340680 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Cancer of the pancreas
Fanconi anemia complementation group D1
Familial cancer of breast
Malignant tumor of breast
not specified
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA023912 rs_79456940

20 SubmittersRCV000034454RCV000113573RCV000129753RCV000195307RCV000240685RCV000677821RCV000406166RCV002250503RCV001353658RCV001818210RCV004541066
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) SNV
Germline		 Chr13:32356496 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
not specified
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025120 rs_55716624

25 SubmittersRCV000034459RCV000045233RCV000077403RCV000148436RCV000131136RCV000168602RCV004534718
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His) SNV
Germline		 Chr13:32376724 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA025781 rs_80359128

14 SubmittersRCV000034466RCV000077448RCV000129089RCV000418186RCV001086184RCV001353522
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys) SNV
Germline		 Chr13:32379503 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA025880 rs_139052578

11 SubmittersRCV000034470RCV000130691RCV001364532RCV003473252RCV003996169
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys) SNV
Germline		 Chr2:47478486 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
MSH2-related disorder		 Criteria Provided
Conflicting Classifications
 CA020577 rs_202145681

14 SubmittersRCV000034556RCV000121564RCV000129519RCV001080801RCV001093691RCV001787035RCV001030484RCV001356651RCV004534720
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) SNV
Germline		 Chr17:7676564 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
not specified
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 1
TP53-related disorder		 Criteria Provided
Conflicting Classifications
 CA000106 rs_201382018

15 SubmittersRCV000034640RCV000161016RCV000226569RCV000213044RCV001030742RCV001124310RCV003924896
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala) SNV
Germline		 Chr17:43093682 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA001205 rs_45564238

9 SubmittersRCV000034729RCV000130111RCV000416510RCV000409706RCV003226173
NM_007294.4(BRCA1):c.2783G>A (p.Gly928Asp) SNV
Germline		 Chr17:43092748 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001830 rs_202004680

8 SubmittersRCV000034736RCV000221501RCV000227370RCV003996179
NM_007294.4(BRCA1):c.3962C>G (p.Ser1321Cys) SNV
Germline		 Chr17:43091569 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002536 rs_386833394

5 SubmittersRCV000034746RCV001324869RCV001804755RCV003156731
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys) SNV
Germline		 Chr17:43071011 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003072 rs_200432771

8 SubmittersRCV000034755RCV000509803RCV000410023RCV000769712RCV001071216
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) SNV
Germline		 Chr17:43067677 Conflicting classifications of pathogenicity Condition: not provided
Breast and/or ovarian cancer
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast carcinoma
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA003152 rs_80357087

21 SubmittersRCV000034757RCV000148380RCV000048736RCV000130911RCV000112461RCV000414907RCV001079653RCV001353726RCV001197438
NM_007294.4(BRCA1):c.5113C>G (p.Leu1705Val) SNV
Germline		 Chr17:43063913 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA003246 rs_80356858

5 SubmittersRCV000034758RCV000132233RCV000229512RCV001076405
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) SNV
Germline		 Chr11:77184688 Pathogenic/Likely pathogenic Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Retinal dystrophy
Hearing loss
Usher syndrome type 1B
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Autosomal recessive nonsyndromic hearing loss 2
Hereditary breast ovarian cancer syndrome
MYO7A-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA132291 rs_199897298

14 SubmittersRCV000036110RCV000312187RCV000664879RCV001073977RCV001270103RCV001272512RCV002496550RCV004541086RCV004579535
NM_000059.4(BRCA2):c.10024G>T (p.Glu3342Ter) SNV
Germline		 Chr13:32398537 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA010072 rs_28897761

8 SubmittersRCV000112832RCV000129731RCV000422123RCV000588538RCV001483406
NM_000059.4(BRCA2):c.10070C>T (p.Thr3357Ile) SNV
Germline		 Chr13:32398583 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA010135 rs_80358388

7 SubmittersRCV000112834RCV000130535RCV000212292RCV000779914RCV001346739
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly) SNV
Germline		 Chr13:32398589 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA010155 rs_80358389

11 SubmittersRCV000043708RCV000112835RCV000222126RCV000781059RCV001090323
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met) SNV
Germline		 Chr13:32398602 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA010190 rs_80358390

15 SubmittersRCV000043709RCV000112836RCV000131377RCV000425048RCV000588809RCV001353943
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) SNV
Germline		 Chr13:32319109 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions		 Reviewed By Expert Panel
 CA010238 rs_80358391

16 SubmittersRCV000043711RCV000113128RCV000222288RCV000496610RCV000657625RCV000762914
NM_000059.4(BRCA2):c.10105A>G (p.Thr3369Ala) SNV
Germline		 Chr13:32398618 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA010254 rs_80358392

3 SubmittersRCV000112840RCV000429325RCV001852914
NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala) SNV
Germline		 Chr13:32398633 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA010315 rs_80358395

9 SubmittersRCV000043717RCV000112843RCV000166051RCV001284405
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr) SNV
Germline		 Chr13:32332490 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
not specified		 Criteria Provided
Conflicting Classifications
 CA010336 rs_80358396

13 SubmittersRCV000043719RCV000112875RCV000509731RCV000759572RCV001111640RCV001280581
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter) SNV
Germline/somatic		 Chr13:32398663 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Cancer of the pancreas
Familial cancer of breast
Condition: not provided
Gastric cancer		 Criteria Provided
Conflicting Classifications
 CA010347 rs_397507568

14 SubmittersRCV000043720RCV000112844RCV000438903RCV000565885RCV000677846RCV002250507RCV001719790RCV003162361
NM_000059.4(BRCA2):c.10151G>A (p.Arg3384Gln) SNV
Germline		 Chr13:32398664 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA010355 rs_80358397

6 SubmittersRCV000112845RCV000212293RCV000571209RCV001314535RCV001804767
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) SNV
Germline		 Chr13:32398715 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA010443 rs_55853199

17 SubmittersRCV000077247RCV000132503RCV000435257RCV000755872RCV001083163
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser) SNV
Germline		 Chr13:32398733 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA010482 rs_80358401

10 SubmittersRCV000112850RCV000129602RCV000212294RCV000589028RCV001370256
NM_000059.4(BRCA2):c.10230C>A (p.Asp3410Glu) SNV
Germline		 Chr13:32398743 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA010527 rs_80358404

10 SubmittersRCV000043730RCV000112852RCV000500767RCV000679152RCV001017039RCV001818216RCV003460558
NM_000059.4(BRCA2):c.1033A>G (p.Lys345Glu) SNV
Germline		 Chr13:32332511 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA010607 rs_80358406

6 SubmittersRCV000043733RCV000112877RCV000562927RCV003237419
NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter) SNV
Germline		 Chr13:32316470 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA010813 rs_397507571

9 SubmittersRCV000239090RCV000257718RCV000769679RCV001017301RCV001384947
NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter) SNV
Germline		 Chr13:32332581 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA010822 rs_80358407

11 SubmittersRCV000043738RCV000112879RCV000222511RCV000258963RCV003473300
NM_000059.4(BRCA2):c.1117C>T (p.Gln373Ter) SNV
Germline		 Chr13:32332595 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA010847 rs_397507572

4 SubmittersRCV000256631RCV000585682RCV002433529
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys) SNV
Germline		 Chr13:32332605 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA010888 rs_80358410

11 SubmittersRCV000043742RCV000112882RCV000130007RCV000203669RCV001719792
NM_000059.4(BRCA2):c.1153A>T (p.Lys385Ter) SNV
Germline		 Chr13:32332631 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA010988 rs_80358411

7 SubmittersRCV000112887RCV000561185RCV000657628RCV002514183
NM_000059.4(BRCA2):c.1180G>T (p.Glu394Ter) SNV
Germline		 Chr13:32332658 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA011059 rs_397507575

2 SubmittersRCV000661426RCV002514184
NM_000059.4(BRCA2):c.1183T>G (p.Trp395Gly) SNV
Germline		 Chr13:32332661 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011077 rs_80358412

5 SubmittersRCV000112888RCV001010084RCV001317443
NM_000059.4(BRCA2):c.1211A>T (p.Asn404Ile) SNV
Germline		 Chr13:32332689 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011175 rs_80358414

7 SubmittersRCV000112892RCV000588048RCV000773258RCV001302330
NM_000059.4(BRCA2):c.121C>T (p.Pro41Ser) SNV
Germline		 Chr13:32319130 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Familial cancer of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA011212 rs_80358415

9 SubmittersRCV000043760RCV000113156RCV000167471RCV001091524RCV003153332RCV004566813RCV003493421
NM_000059.4(BRCA2):c.1225G>A (p.Glu409Lys) SNV
Germline		 Chr13:32332703 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA011235 rs_80358416

9 SubmittersRCV000043761RCV000112895RCV000164321RCV000679154RCV001251342
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg) SNV
Germline		 Chr13:32332722 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified
Hereditary breast ovarian cancer syndrome
EBV-positive nodal T- and NK-cell lymphoma		 Criteria Provided
Conflicting Classifications
 CA011305 rs_80358417

17 SubmittersRCV000112899RCV000160035RCV000165768RCV000735440RCV000780016RCV001084688RCV004558293
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser) SNV
Germline		 Chr13:32332725 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011324 rs_80358418

11 SubmittersRCV000077253RCV000129196RCV001112107RCV001284073RCV001394892
NM_000059.4(BRCA2):c.1261C>T (p.Gln421Ter) SNV
Germline/somatic		 Chr13:32332739 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA011382 rs_80358419

11 SubmittersRCV000112900RCV000131850RCV000496684RCV003162362RCV003332097
NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val) SNV
Germline		 Chr13:32332793 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA011580 rs_80358420

10 SubmittersRCV000043780RCV000112907RCV000162696RCV000757039RCV001526976RCV004541230
NM_000059.4(BRCA2):c.1325C>T (p.Ser442Leu) SNV
Germline		 Chr13:32332803 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011613 rs_80358421

3 SubmittersRCV000112909RCV003156733RCV003764718
NM_000059.4(BRCA2):c.1327G>T (p.Glu443Ter) SNV
Germline		 Chr13:32332805 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA011622 rs_397507579

5 SubmittersRCV000169567RCV000238757
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys) SNV
Germline		 Chr13:32332820 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011683 rs_80358422

12 SubmittersRCV000043785RCV000077254RCV000165318RCV000203634
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His) SNV
Germline		 Chr13:32332821 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011692 rs_80358423

13 SubmittersRCV000112910RCV000130010RCV000587298RCV001175372RCV001495330
NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser) SNV
Germline		 Chr13:32319145 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA011790 rs_80358425

11 SubmittersRCV000113176RCV000164910RCV000588395RCV001306963RCV001175345
NM_000059.4(BRCA2):c.1375T>G (p.Leu459Val) SNV
Germline		 Chr13:32332853 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA011810 rs_80358426

3 SubmittersRCV000112915RCV001348290RCV003156734
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) SNV
Germline		 Chr13:32332877 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast neoplasm
8 conditions
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Gastric cancer		 Reviewed By Expert Panel
 CA011908 rs_80358427

15 SubmittersRCV000077256RCV000131059RCV000221316RCV000240776RCV000762915RCV001385487RCV003473303RCV003162365
NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter) SNV
Germline		 Chr13:32332889 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer
Familial cancer of breast		 Reviewed By Expert Panel
 CA011958 rs_80358428

13 SubmittersRCV000043801RCV000112919RCV000162910RCV000195351RCV003162366RCV003473304
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter) SNV
Germline		 Chr13:32332892 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Breast carcinoma
Familial cancer of breast		 Reviewed By Expert Panel
 CA011969 rs_80358429

12 SubmittersRCV000043802RCV000112920RCV000657753RCV000509751RCV001270984RCV001554325RCV002514185
NM_000059.4(BRCA2):c.1418A>T (p.His473Leu) SNV
Germline		 Chr13:32332896 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011980 rs_80358430

5 SubmittersRCV000112921RCV000569851RCV001338564
NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter) SNV
Germline		 Chr13:32332901 Pathogenic Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA012001 rs_397507587

8 SubmittersRCV000577355RCV000657629RCV000661641RCV001385297RCV002390184
NM_000059.4(BRCA2):c.1447G>A (p.Ala483Thr) SNV
Germline		 Chr13:32332925 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012073 rs_80358432

5 SubmittersRCV000112922RCV000509786RCV001365914
NM_000059.4(BRCA2):c.1447G>C (p.Ala483Pro) SNV
Germline		 Chr13:32332925 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA012085 rs_80358432

8 SubmittersRCV000112923RCV000132314RCV000417931RCV001316342RCV001284409
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter) SNV
Germline		 Chr13:32332934 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA012111 rs_80358434

13 SubmittersRCV000112924RCV000219957RCV000520967RCV000496375RCV003473305
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) SNV
Germline		 Chr13:32319154 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
9 conditions
Malignant tumor of breast
Gastric cancer		 Reviewed By Expert Panel
 CA012123 rs_80358435

25 SubmittersRCV000077257RCV000043811RCV000131868RCV000167820RCV000238910RCV000515388RCV001353561RCV003162367
NM_000059.4(BRCA2):c.1463T>G (p.Ile488Arg) SNV
Germline		 Chr13:32332941 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA012142 rs_80358436

5 SubmittersRCV000043813RCV000112925RCV001011706
NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr) SNV
Germline		 Chr13:32332961 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA012191 rs_80358437

10 SubmittersRCV000043814RCV000130135RCV000414054RCV000989001RCV001284410
NM_000059.4(BRCA2):c.1483G>C (p.Ala495Pro) SNV
Germline		 Chr13:32332961 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA012202 rs_80358437

7 SubmittersRCV000112926RCV000571207RCV000781146RCV001346743RCV002277133
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter) SNV
Germline		 Chr13:32333006 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA012312 rs_80358438

8 SubmittersRCV000112930RCV000485041RCV000735525RCV001004831RCV001310170RCV001382424
NM_000059.4(BRCA2):c.1552G>C (p.Ala518Pro) SNV
Germline		 Chr13:32333030 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA012397 rs_80358440

5 SubmittersRCV000112934RCV000480545RCV001852918RCV002390187
NM_000059.4(BRCA2):c.1558T>G (p.Phe520Val) SNV
Germline		 Chr13:32333036 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012418 rs_80358441

10 SubmittersRCV000112935RCV001012153RCV001264457RCV001313921
NM_000059.4(BRCA2):c.1568A>T (p.His523Leu) SNV
Germline		 Chr13:32333046 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012447 rs_80358443

4 SubmittersRCV000112936RCV000575869RCV001852919
NM_000059.4(BRCA2):c.1573A>T (p.Thr525Ser) SNV
Germline		 Chr13:32333051 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012478 rs_80358444

3 SubmittersRCV000112937RCV003156736RCV002514187
NM_000059.4(BRCA2):c.1627C>A (p.His543Asn) SNV
Germline		 Chr13:32333105 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA012670 rs_80358446

15 SubmittersRCV000077259RCV000510047RCV000504335RCV000985466RCV001321558RCV001800335
NM_000059.4(BRCA2):c.1630A>G (p.Thr544Ala) SNV
Germline		 Chr13:32333108 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA012682 rs_80358447

8 SubmittersRCV000043846RCV000112944RCV000562189RCV001284411RCV003230378
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile) SNV
Germline		 Chr13:32333109 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012696 rs_80358448

12 SubmittersRCV000083087RCV000130669RCV000212211RCV000586961RCV001084269
NM_000059.4(BRCA2):c.1640C>T (p.Ser547Leu) SNV
Germline		 Chr13:32333118 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA012716 rs_80358449

4 SubmittersRCV000043850RCV000112946RCV002399403
NM_000059.4(BRCA2):c.164A>G (p.Asn55Ser) SNV
Germline		 Chr13:32319173 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012786 rs_80358450

5 SubmittersRCV000113209RCV000129076RCV000212200RCV001371894
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter) SNV
Germline		 Chr13:32333148 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA012870 rs_80358452

15 SubmittersRCV000112952RCV000212212RCV000217402RCV000496933RCV003473307
NM_000059.4(BRCA2):c.1681G>T (p.Gly561Ter) SNV
Germline		 Chr13:32333159 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA012901 rs_80358455

5 SubmittersRCV000112959RCV001012700RCV001381024RCV004566814
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter) SNV
Germline		 Chr13:32333167 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast		 Reviewed By Expert Panel
 CA012907 rs_80358456

13 SubmittersRCV000043863RCV000112960RCV000581281RCV000985467RCV001354296RCV003460561
NM_000059.4(BRCA2):c.171C>G (p.Tyr57Ter) SNV
Germline		 Chr13:32319180 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA012997 rs_201523522

9 SubmittersRCV000241283RCV000509640RCV001284555RCV001852921
NM_000059.4(BRCA2):c.172G>T (p.Glu58Ter) SNV
Germline		 Chr13:32319181 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA013013 rs_397507603

4 SubmittersRCV000577083RCV000661505RCV001387312
NM_000059.4(BRCA2):c.1744A>G (p.Thr582Ala) SNV
Germline		 Chr13:32333222 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA013045 rs_80358457

9 SubmittersRCV000043870RCV000112963RCV000130844RCV000761856
NM_000059.4(BRCA2):c.1748T>A (p.Leu583Ter) SNV
Germline		 Chr13:32333226 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast		 Reviewed By Expert Panel
 CA013061 rs_397507604

7 SubmittersRCV000043871RCV000165753RCV000225624RCV003460562
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) SNV
Germline		 Chr13:32319184 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA013107 rs_56091799

18 SubmittersRCV000077263RCV000120380RCV000131721RCV000724406RCV001081846RCV001358626RCV003492346RCV004537188
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser) SNV
Germline		 Chr13:32333241 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast neoplasm
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA013138 rs_373400041

11 SubmittersRCV000043876RCV000148439RCV000166539RCV000258376RCV000779918RCV000985469RCV001262544
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys) SNV
Germline		 Chr13:32333247 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA013155 rs_80358459

13 SubmittersRCV000043879RCV000077265RCV000130772RCV000486075RCV000780024RCV001798227
NM_000059.4(BRCA2):c.1784A>G (p.His595Arg) SNV
Germline		 Chr13:32333262 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013206 rs_80358460

8 SubmittersRCV000112967RCV000586420RCV000776231RCV001316717
NM_000059.4(BRCA2):c.1793C>T (p.Thr598Ile) SNV
Germline		 Chr13:32333271 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013244 rs_80358462

9 SubmittersRCV000112971RCV000509597RCV000758865RCV001313059
NM_000059.4(BRCA2):c.1800T>G (p.Tyr600Ter) SNV
Germline		 Chr13:32333278 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA013323 rs_80358464

13 SubmittersRCV000077266RCV000162912RCV000418517RCV000496768
NM_000059.4(BRCA2):c.1817C>T (p.Pro606Leu) SNV
Germline		 Chr13:32333295 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013443 rs_80358469

11 SubmittersRCV000077268RCV000163125RCV000479578RCV000779988RCV001088382
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr) SNV
Germline		 Chr13:32333298 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA013463 rs_55962656

14 SubmittersRCV000043901RCV000077269RCV000163031RCV000436051RCV000859148RCV001262739
NM_000059.4(BRCA2):c.1825C>G (p.Gln609Glu) SNV
Germline		 Chr13:32333303 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA013481 rs_80358472

9 SubmittersRCV000043902RCV000112982RCV000130263RCV000507323RCV001582539
NM_000059.4(BRCA2):c.1825C>T (p.Gln609Ter) SNV
Germline		 Chr13:32333303 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA013487 rs_80358472

4 SubmittersRCV000112983RCV001852923RCV002408540
NM_000059.4(BRCA2):c.1826A>G (p.Gln609Arg) SNV
Germline		 Chr13:32333304 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA013495 rs_80358473

11 SubmittersRCV000043904RCV000083089RCV000164841RCV000587069RCV000855633
NM_000059.4(BRCA2):c.1855C>T (p.Gln619Ter) SNV
Germline		 Chr13:32333333 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA013627 rs_80358476

11 SubmittersRCV000043911RCV000112988RCV000216070RCV000254954
NM_000059.4(BRCA2):c.1875T>A (p.Phe625Leu) SNV
Germline		 Chr13:32333353 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA013680 rs_80358478

7 SubmittersRCV000043914RCV000112989RCV000130677RCV000502441
NM_000059.4(BRCA2):c.1912T>G (p.Leu638Val) SNV
Germline		 Chr13:32336267 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013912 rs_80358481

4 SubmittersRCV000112994RCV000561741RCV001359390
NM_000059.4(BRCA2):c.1951G>T (p.Asp651Tyr) SNV
Germline		 Chr13:32336306 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA014008 rs_80358482

9 SubmittersRCV000112998RCV000132142RCV001313663RCV001354692
NM_000059.4(BRCA2):c.196C>T (p.Gln66Ter) SNV
Germline		 Chr13:32319205 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA014053 rs_397507617

6 SubmittersRCV000164594RCV000168531RCV000759584RCV001387319
NM_000059.4(BRCA2):c.2003G>A (p.Arg668Lys) SNV
Germline		 Chr13:32336358 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA014104 rs_80358483

5 SubmittersRCV000043934RCV000113004RCV000212217RCV003156740
NM_000059.4(BRCA2):c.2024C>G (p.Thr675Arg) SNV
Germline		 Chr13:32336379 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA014128 rs_80358484

8 SubmittersRCV000113006RCV000168556RCV000222018RCV000481560RCV003607209
NM_000059.4(BRCA2):c.2064T>G (p.Tyr688Ter) SNV
Germline		 Chr13:32336419 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA014258 rs_80358485

3 SubmittersRCV000113009RCV001382568
NM_000059.4(BRCA2):c.2097G>T (p.Gln699His) SNV
Germline		 Chr13:32336452 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA014338 rs_80358486

12 SubmittersRCV000113013RCV000563839RCV000679158RCV001348807RCV003235004
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr) SNV
Germline		 Chr13:32336477 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions
Breast and/or ovarian cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA014385 rs_80358488

11 SubmittersRCV000043947RCV000113017RCV000130632RCV000216194RCV000763881RCV000735530RCV001194412
NM_000059.4(BRCA2):c.2125C>G (p.Leu709Val) SNV
Germline		 Chr13:32336480 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA014396 rs_80358489

10 SubmittersRCV000113018RCV000164754RCV000236275RCV001297703RCV004537189
NM_000059.4(BRCA2):c.2135T>C (p.Leu712Pro) SNV
Germline		 Chr13:32336490 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA014418 rs_80358490

10 SubmittersRCV000043949RCV000113019RCV000131476RCV000590581
NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser) SNV
Germline		 Chr13:32319224 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Infiltrating duct carcinoma of breast
Familial cancer of breast
not specified
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA014475 rs_276174818

11 SubmittersRCV000043952RCV000113284RCV000212202RCV000562408RCV000677865RCV002250508RCV001778687RCV003153333
NM_000059.4(BRCA2):c.2175A>T (p.Lys725Asn) SNV
Germline		 Chr13:32336530 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA014530 rs_80358491

3 SubmittersRCV000113020RCV001852924RCV003156742
NM_000059.4(BRCA2):c.2187A>G (p.Ile729Met) SNV
Germline		 Chr13:32336542 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA014573 rs_397507620

6 SubmittersRCV000326298RCV001014696RCV001304293RCV003996471
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter) SNV
Germline		 Chr13:32336579 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Familial cancer of breast		 Reviewed By Expert Panel
 CA014670 rs_80358494

16 SubmittersRCV000077273RCV000212220RCV000568409RCV000496760RCV002490602RCV003473311
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly) SNV
Germline		 Chr13:32336600 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
8 conditions
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA014730 rs_80358495

13 SubmittersRCV000043961RCV000113026RCV000129533RCV000481492RCV001193201RCV002477144RCV004537190
NM_000059.4(BRCA2):c.2303C>T (p.Thr768Ile) SNV
Germline		 Chr13:32336658 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA014909 rs_55824746

8 SubmittersRCV000113030RCV000214463RCV000218187RCV001297725
NM_000059.4(BRCA2):c.2324C>T (p.Ser775Phe) SNV
Germline		 Chr13:32336679 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA014938 rs_276174820

3 SubmittersRCV000113032RCV001349389RCV003156747
NM_000059.4(BRCA2):c.2357C>G (p.Ser786Cys) SNV
Germline		 Chr13:32336712 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA015031 rs_80358501

6 SubmittersRCV000113035RCV000499976RCV000773259RCV001315892
NM_000059.4(BRCA2):c.2376C>A (p.Tyr792Ter) SNV
Germline		 Chr13:32336731 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA015072 rs_80358503

13 SubmittersRCV000043981RCV000077277RCV000131058RCV001781369RCV003460566
NM_000059.4(BRCA2):c.2399G>T (p.Gly800Val) SNV
Germline		 Chr13:32336754 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA015127 rs_276174821

3 SubmittersRCV000113036RCV002513642RCV003156748
NM_000059.4(BRCA2):c.2417A>G (p.Asp806Gly) SNV
Germline		 Chr13:32336772 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA015187 rs_80358506

5 SubmittersRCV000083091RCV001015276RCV001852926
NM_000059.4(BRCA2):c.2428A>G (p.Thr810Ala) SNV
Germline		 Chr13:32336783 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Endometrial carcinoma		 Criteria Provided
Conflicting Classifications
 CA015228 rs_80358508

8 SubmittersRCV000043990RCV000077278RCV000508135RCV000564107RCV001354265
NM_000059.4(BRCA2):c.2429C>T (p.Thr810Ile) SNV
Germline		 Chr13:32336784 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA015239 rs_80358509

8 SubmittersRCV000043991RCV000113039RCV000131752RCV000254641
NM_000059.4(BRCA2):c.2441C>T (p.Pro814Leu) SNV
Germline		 Chr13:32336796 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA015273 rs_80358510

6 SubmittersRCV000113044RCV000484505RCV001015557RCV001363912
NM_000059.4(BRCA2):c.244A>T (p.Lys82Ter) SNV
Germline		 Chr13:32319253 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA015328 rs_397507628

3 SubmittersRCV000257796RCV000496688
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly) SNV
Germline		 Chr13:32336814 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA015354 rs_80358511

14 SubmittersRCV000044000RCV000077279RCV000130196RCV000435008RCV001084667RCV004528241
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg) SNV
Germline		 Chr13:32336819 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
8 conditions		 Criteria Provided
Conflicting Classifications
 CA015378 rs_80358512

11 SubmittersRCV000044001RCV000077280RCV000220861RCV000780041RCV001550754RCV002504933
NM_000059.4(BRCA2):c.2471T>G (p.Leu824Ter) SNV
Germline		 Chr13:32336826 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA015407 rs_397507631

8 SubmittersRCV000044003RCV000257389RCV000506370RCV002453345RCV003473314
NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter) SNV
Germline/somatic		 Chr13:32319259 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA015512 rs_80358515

14 SubmittersRCV000044007RCV000077281RCV000195353RCV000564855RCV003473315
NM_000059.4(BRCA2):c.2517C>A (p.Tyr839Ter) SNV
Germline		 Chr13:32336872 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast		 Reviewed By Expert Panel
 CA015526 rs_80358516

11 SubmittersRCV000113053RCV000131057RCV000223462RCV001385315RCV001270986RCV003473316
NM_000059.4(BRCA2):c.2528C>T (p.Ala843Val) SNV
Germline		 Chr13:32336883 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA015568 rs_80358517

7 SubmittersRCV000113055RCV000219470RCV000483891RCV000781048RCV001321081
NM_000059.4(BRCA2):c.2537C>G (p.Ser846Ter) SNV
Germline		 Chr13:32336892 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA015578 rs_80358518

5 SubmittersRCV000113056RCV001387564RCV003473317
NM_000059.4(BRCA2):c.2561A>G (p.Asn854Ser) SNV
Germline		 Chr13:32336916 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA015650 rs_80358520

9 SubmittersRCV000113061RCV000219656RCV000766391RCV001343602
NM_000059.4(BRCA2):c.2599A>G (p.Thr867Ala) SNV
Germline		 Chr13:32336954 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA015783 rs_80358522

5 SubmittersRCV000113068RCV000572035RCV001852927RCV003607210
NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu) SNV
Germline		 Chr13:32336961 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA015810 rs_80358523

6 SubmittersRCV000113070RCV000163028RCV001109534RCV001339978RCV001357214
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter) SNV
Germline		 Chr13:32336967 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of prostate
Malignant tumor of breast
Condition: not provided		 Reviewed By Expert Panel
 CA015821 rs_397507634

12 SubmittersRCV000077282RCV000213349RCV000590670RCV001027675RCV001357295RCV003114227
NM_000059.4(BRCA2):c.2657A>T (p.Asn886Ile) SNV
Germline		 Chr13:32337012 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA015961 rs_80358526

5 SubmittersRCV000113074RCV001345499RCV003156751RCV003153334
NM_000059.4(BRCA2):c.2678A>G (p.Gln893Arg) SNV
Germline		 Chr13:32337033 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA016015 rs_276174827

3 SubmittersRCV000113075RCV001345255RCV003156752
NM_000059.4(BRCA2):c.273C>G (p.Tyr91Ter) SNV
Germline		 Chr13:32319282 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA016209 rs_145988146

3 SubmittersRCV000257002RCV002514189
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile) SNV
Germline		 Chr13:32337126 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA016313 rs_80358530

11 SubmittersRCV000113089RCV000130266RCV000585963RCV001079700RCV002267809
NM_000059.4(BRCA2):c.2798C>G (p.Thr933Arg) SNV
Germline		 Chr13:32337153 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016389 rs_276174830

6 SubmittersRCV000077286RCV001191192RCV001314174
NM_000059.4(BRCA2):c.2813C>A (p.Ala938Glu) SNV
Germline		 Chr13:32337168 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA016486 rs_55773834

13 SubmittersRCV000044067RCV000083094RCV000130944RCV000587088RCV001797611RCV004528242
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) SNV
Germline		 Chr13:32337185 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Neoplasm of ovary
Fanconi anemia complementation group D1
Malignant tumor of breast		 Reviewed By Expert Panel
 CA016531 rs_80358533

32 SubmittersRCV000044070RCV000077287RCV000131101RCV000212222RCV000496649RCV000785217RCV001028039RCV001358552
NM_000059.4(BRCA2):c.2837A>G (p.Asp946Gly) SNV
Germline		 Chr13:32337192 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016584 rs_55972907

8 SubmittersRCV000113103RCV000132081RCV000588917RCV000855581RCV001445276
NM_000059.4(BRCA2):c.2849T>A (p.Val950Asp) SNV
Germline		 Chr13:32337204 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016619 rs_80358535

8 SubmittersRCV000113105RCV000120346RCV000222954RCV000587157RCV002514190
NM_000059.4(BRCA2):c.2854G>T (p.Ala952Ser) SNV
Germline		 Chr13:32337209 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016630 rs_80358536

6 SubmittersRCV000113107RCV000773198RCV000985488RCV001319853
NM_000059.4(BRCA2):c.2872A>G (p.Ser958Gly) SNV
Germline		 Chr13:32337227 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016655 rs_80358537

4 SubmittersRCV000113109RCV001016743RCV001348682
NM_000059.4(BRCA2):c.2881C>T (p.Gln961Ter) SNV
Germline		 Chr13:32337236 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA016668 rs_80358538

6 SubmittersRCV000077288RCV002514191
NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter) SNV
Germline		 Chr13:32319298 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA016722 rs_397507646

13 SubmittersRCV000083095RCV000166898RCV000214710RCV000709286RCV003473320
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu) SNV
Germline		 Chr13:32337299 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA016848 rs_28897717

16 SubmittersRCV000044090RCV000113118RCV000131312RCV000167800RCV000587861RCV001353864
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) SNV
Germline		 Chr13:32337312 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA016896 rs_28897718

15 SubmittersRCV000113119RCV000129122RCV000168561RCV000586870RCV000735534RCV001080867RCV004541233
NM_000059.4(BRCA2):c.298A>T (p.Lys100Ter) SNV
Germline		 Chr13:32319307 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA016977 rs_80358546

4 SubmittersRCV000044099RCV000113370RCV001310165
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr) SNV
Germline		 Chr13:32316462 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA017005 rs_80358547

4 SubmittersRCV000165930RCV000662990RCV000781042
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg) SNV
Germline		 Chr13:32316462 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA017013 rs_80358547

11 SubmittersRCV000044102RCV000113010RCV000131870RCV000759594
NM_000059.4(BRCA2):c.305A>G (p.Lys102Arg) SNV
Germline		 Chr13:32319314 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA017117 rs_80358549

6 SubmittersRCV000113382RCV001182331RCV001364084RCV003607211
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu) SNV
Germline		 Chr13:32337428 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA017162 rs_80358550

15 SubmittersRCV000044112RCV000077290RCV000131460RCV000586348RCV001083912RCV001354029RCV003149675
NM_000059.4(BRCA2):c.3076A>T (p.Lys1026Ter) SNV
Germline		 Chr13:32337431 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided		 Reviewed By Expert Panel
 CA017194 rs_80358552

8 SubmittersRCV000113132RCV000496493RCV001018494RCV001271031RCV002254907
NM_000059.4(BRCA2):c.3085A>G (p.Met1029Val) SNV
Germline		 Chr13:32337440 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA017207 rs_80358553

10 SubmittersRCV000083096RCV000484779RCV001361254RCV002321539RCV003607212
NM_000059.4(BRCA2):c.3088T>G (p.Phe1030Val) SNV
Germline		 Chr13:32337443 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA017215 rs_80358554

11 SubmittersRCV000044116RCV000077291RCV000165765RCV000214139
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter) SNV
Germline		 Chr13:32337458 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Rhabdomyosarcoma
Familial cancer of breast		 Reviewed By Expert Panel
 CA017241 rs_80358556

20 SubmittersRCV000044119RCV000077292RCV000131104RCV000212224RCV000508209RCV001257547RCV003473323
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly) SNV
Germline		 Chr13:32337492 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1		 Criteria Provided
Conflicting Classifications
 CA017285 rs_80358559

10 SubmittersRCV000044123RCV000113138RCV000129709RCV000483875RCV000779942RCV001535463
NM_000059.4(BRCA2):c.3142G>A (p.Val1048Ile) SNV
Germline		 Chr13:32337497 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA017293 rs_80358560

3 SubmittersRCV000113139RCV001366576RCV003156757
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter) SNV
Germline		 Chr13:32319323 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA017305 rs_80358561

10 SubmittersRCV000077293RCV000219806RCV000496591RCV000735536RCV001358503RCV003473324
NM_000059.4(BRCA2):c.316+2T>C SNV
Germline		 Chr13:32319327 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Gastric cancer
Familial cancer of breast		 Reviewed By Expert Panel
 CA017370 rs_81002805

9 SubmittersRCV000113397RCV000131849RCV000759596RCV001384949RCV003162368RCV004566818
NM_000059.4(BRCA2):c.316+5G>A SNV
Germline/somatic		 Chr13:32319330 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA017381 rs_81002840

17 SubmittersRCV000044130RCV000077294RCV000216220RCV000486888RCV000735537RCV003338395RCV003332098
NM_000059.4(BRCA2):c.316+5G>C SNV
Germline		 Chr13:32319330 Pathogenic Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Reviewed By Expert Panel
 CA017387 rs_81002840

7 SubmittersRCV000577435RCV000588126RCV000759597RCV001018884RCV001000109
NM_000059.4(BRCA2):c.3166C>T (p.Gln1056Ter) SNV
Germline		 Chr13:32337521 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA017394 rs_79728106

11 SubmittersRCV000044134RCV000077295RCV000223645RCV003473326
NM_000059.4(BRCA2):c.3170A>G (p.Lys1057Arg) SNV
Germline		 Chr13:32337525 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA017433 rs_80358562

5 SubmittersRCV000113142RCV000709307RCV003156758
NM_000059.4(BRCA2):c.3206C>T (p.Ser1069Phe) SNV
Germline		 Chr13:32337561 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA017538 rs_80358563

11 SubmittersRCV000044147RCV000113147RCV000165150RCV000985496RCV004562231RCV004542696
NM_000059.4(BRCA2):c.3211C>T (p.His1071Tyr) SNV
Germline		 Chr13:32337566 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA017559 rs_80358564

10 SubmittersRCV000113148RCV000212225RCV000572282RCV001299345
NM_000059.4(BRCA2):c.3212A>G (p.His1071Arg) SNV
Germline		 Chr13:32337567 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA017566 rs_80358565

7 SubmittersRCV000077297RCV000220168RCV001365804RCV003476922
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser) SNV
Germline		 Chr13:32325082 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA017610 rs_80358568

14 SubmittersRCV000077298RCV000166938RCV000221445RCV000315720RCV001356621RCV001372390RCV002250509RCV002267810
NM_000059.4(BRCA2):c.3245A>G (p.Lys1082Arg) SNV
Germline		 Chr13:32337600 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA017616 rs_80358569

12 SubmittersRCV000113150RCV000569193RCV000587691RCV001361625RCV003488363
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg) SNV
Germline		 Chr13:32337609 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA017628 rs_80358570

13 SubmittersRCV000044157RCV000077299RCV000220389RCV000432492RCV001701731
NM_000059.4(BRCA2):c.3256A>G (p.Ile1086Val) SNV
Germline		 Chr13:32337611 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA017635 rs_80358571

11 SubmittersRCV000044158RCV000077300RCV000240692RCV000419030RCV000509892RCV000589377
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter) SNV
Germline		 Chr13:32337620 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA017668 rs_80358573

9 SubmittersRCV000113153RCV000509972RCV001310144RCV001852931RCV003473328
NM_000059.4(BRCA2):c.3270G>C (p.Met1090Ile) SNV
Germline		 Chr13:32337625 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA017687 rs_80358574

6 SubmittersRCV000113155RCV001191193RCV001314298RCV001194441
NM_000059.4(BRCA2):c.3296C>G (p.Ser1099Ter) SNV
Germline		 Chr13:32337651 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer		 Reviewed By Expert Panel
 CA017733 rs_397507663

5 SubmittersRCV000577700RCV000661739RCV000779972RCV001019755RCV003162370
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro) SNV
Germline		 Chr13:32337665 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA017768 rs_80358577

12 SubmittersRCV000044176RCV000083097RCV000163592RCV000758881RCV000781094
NM_000059.4(BRCA2):c.3319C>T (p.Gln1107Ter) SNV
Germline		 Chr13:32337674 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA017774 rs_80358578

7 SubmittersRCV000113162RCV000162918RCV001382649
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val) SNV
Germline		 Chr13:32337681 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA017785 rs_41293479

12 SubmittersRCV000044178RCV000077301RCV000129186RCV000203645RCV000586235
NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter) SNV
Germline		 Chr13:32337717 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast		 Reviewed By Expert Panel
 CA017866 rs_80358579

12 SubmittersRCV000077302RCV000131100RCV000219700RCV000504065RCV001353553RCV003460570
NM_000059.4(BRCA2):c.3367A>G (p.Ser1123Gly) SNV
Germline		 Chr13:32337722 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA017884 rs_80358581

6 SubmittersRCV000113166RCV001368662RCV002453346RCV003114228
NM_000059.4(BRCA2):c.3413A>T (p.Gln1138Leu) SNV
Germline		 Chr13:32337768 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA017965 rs_80358584

6 SubmittersRCV000113173RCV000509872RCV001302307RCV002468996
NM_000059.4(BRCA2):c.3419G>C (p.Ser1140Thr) SNV
Germline		 Chr13:32337774 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA017980 rs_80358585

5 SubmittersRCV000113174RCV001343730RCV002453347RCV003476923
NM_000059.4(BRCA2):c.341A>G (p.His114Arg) SNV
Germline		 Chr13:32325100 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA017983 rs_80358586

8 SubmittersRCV000044189RCV000113436RCV000214245RCV000568060
NM_000059.4(BRCA2):c.3431T>G (p.Val1144Gly) SNV
Germline		 Chr13:32337786 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA017998 rs_80358587

9 SubmittersRCV000083098RCV000129914RCV001434940RCV001703943
NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu) SNV
Germline		 Chr13:32325102 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA018014 rs_56242644

9 SubmittersRCV000113438RCV000129695RCV000235137RCV000586594RCV001367677
NM_000059.4(BRCA2):c.3451A>G (p.Ile1151Val) SNV
Germline		 Chr13:32337806 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA018064 rs_80358591

9 SubmittersRCV000044197RCV000113178RCV000214609RCV000502245RCV001775562
NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter) SNV
Germline		 Chr13:32337810 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA018097 rs_80358593

10 SubmittersRCV000113180RCV000505837RCV000509646RCV001356768RCV001852933RCV003460571
NM_000059.4(BRCA2):c.3458A>G (p.Lys1153Arg) SNV
Germline		 Chr13:32337813 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA018105 rs_80358594

10 SubmittersRCV000044202RCV000113181RCV000129509RCV000588905RCV002468997
NM_000059.4(BRCA2):c.3496G>A (p.Val1166Ile) SNV
Germline		 Chr13:32337851 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA018177 rs_80358596

6 SubmittersRCV000113184RCV000507432RCV000509836RCV001339276
NM_000059.4(BRCA2):c.3499A>G (p.Ile1167Val) SNV
Germline		 Chr13:32337854 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA018187 rs_276174834

6 SubmittersRCV000113185RCV000212230RCV001020449RCV001423831
NM_000059.4(BRCA2):c.34T>G (p.Phe12Val) SNV
Germline		 Chr13:32316494 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA018197 rs_80358597

12 SubmittersRCV000077304RCV000129690RCV000255640RCV001367891RCV002307379RCV004566819
NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys) SNV
Germline		 Chr13:32337858 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA018209 rs_80358598

12 SubmittersRCV000044210RCV000083099RCV000163591RCV000759598RCV000781095
NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp) SNV
Germline		 Chr13:32337870 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA018223 rs_80358600

12 SubmittersRCV000044212RCV000077305RCV000222703RCV000781071RCV000985504RCV002513644
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg) SNV
Germline		 Chr13:32337894 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA018286 rs_28897720

14 SubmittersRCV000044217RCV000077307RCV000129986RCV000219144RCV000657117
NM_000059.4(BRCA2):c.3598T>A (p.Cys1200Ser) SNV
Germline		 Chr13:32337953 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA018392 rs_80358607

4 SubmittersRCV000113194RCV001360297RCV003156761
NM_000059.4(BRCA2):c.3622T>A (p.Leu1208Ile) SNV
Germline		 Chr13:32337977 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA018418 rs_80358608

4 SubmittersRCV000113198RCV002453350RCV003644869
NM_000059.4(BRCA2):c.3635A>T (p.Asn1212Ile) SNV
Germline		 Chr13:32337990 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA018434 rs_80358609

9 SubmittersRCV000044232RCV000113199RCV000166119RCV000588318
NM_000059.4(BRCA2):c.3655T>C (p.Phe1219Leu) SNV
Germline		 Chr13:32338010 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA018474 rs_80358610

4 SubmittersRCV000113202RCV001305686RCV002453352
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro) SNV
Germline		 Chr13:32338016 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA018488 rs_80358611

12 SubmittersRCV000044238RCV000077310RCV000132318RCV000195368RCV001798231RCV001719794
NM_000059.4(BRCA2):c.3677A>T (p.Lys1226Ile) SNV
Germline		 Chr13:32338032 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA018539 rs_80358612

6 SubmittersRCV000044240RCV000113205RCV000165157
NM_000059.4(BRCA2):c.3697G>A (p.Ala1233Thr) SNV
Germline		 Chr13:32338052 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA018594 rs_80358613

9 SubmittersRCV000113208RCV000773261RCV001319239RCV002509189RCV004528243
NM_000059.4(BRCA2):c.3742A>C (p.Ser1248Arg) SNV
Germline		 Chr13:32338097 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA018688 rs_80358614

4 SubmittersRCV000113212RCV001852936RCV003156762
NM_000059.4(BRCA2):c.3749A>G (p.Glu1250Gly) SNV
Germline		 Chr13:32338104 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA018716 rs_56400215

10 SubmittersRCV000044256RCV000113214RCV000129769RCV000212231RCV001194411
NM_000059.4(BRCA2):c.375T>A (p.Asp125Glu) SNV
Germline		 Chr13:32325134 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA018731 rs_80358616

9 SubmittersRCV000113487RCV000132463RCV000588594RCV001318499
NM_000059.4(BRCA2):c.3763G>T (p.Val1255Leu) SNV
Germline		 Chr13:32338118 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA018742 rs_80358617

5 SubmittersRCV000077312RCV001021082RCV001363809
NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro) SNV
Germline		 Chr13:32338122 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA018748 rs_80358618

9 SubmittersRCV000113216RCV000561816RCV001312276RCV001355615RCV002247431
NM_000059.4(BRCA2):c.3767A>G (p.His1256Arg) SNV
Germline		 Chr13:32338122 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA018755 rs_80358618

8 SubmittersRCV000113217RCV000575182RCV001298086RCV003607213
NM_000059.4(BRCA2):c.3782C>G (p.Ser1261Cys) SNV
Germline		 Chr13:32338137 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA018805 rs_276174836

3 SubmittersRCV000113218RCV001365576RCV003156763
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) SNV
Germline		 Chr13:32338140 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder
8 conditions
Familial cancer of breast		 Reviewed By Expert Panel
 CA018810 rs_80358620

18 SubmittersRCV000044266RCV000113219RCV000129108RCV000481804RCV001535648RCV002490604RCV003460575
NM_000059.4(BRCA2):c.379G>T (p.Ala127Ser) SNV
Germline		 Chr13:32325138 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA018828 rs_80358621

5 SubmittersRCV000077313RCV000580114RCV001318010
NM_000059.4(BRCA2):c.37G>T (p.Glu13Ter) SNV
Germline		 Chr13:32316497 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA018834 rs_80358622

10 SubmittersRCV000113040RCV001382700RCV002354227RCV003321490
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val) SNV
Germline		 Chr13:32338169 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA018861 rs_80358624

13 SubmittersRCV000044271RCV000083100RCV000203673RCV000130732RCV001353829RCV001703944
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr) SNV
Germline		 Chr13:32338179 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
not specified		 Criteria Provided
Conflicting Classifications
 CA018880 rs_80358625

12 SubmittersRCV000044272RCV000083101RCV000132466RCV000985512RCV001112374RCV002271387
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp) SNV
Germline		 Chr13:32338190 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
8 conditions
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA018891 rs_80358626

14 SubmittersRCV000077314RCV000130851RCV000221261RCV000709309RCV000763886RCV000657036RCV001353872
NM_000059.4(BRCA2):c.3856A>G (p.Lys1286Glu) SNV
Germline		 Chr13:32338211 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA018967 rs_80358629

3 SubmittersRCV000113227RCV001295751RCV003156765
NM_000059.4(BRCA2):c.3863A>T (p.Asn1288Ile) SNV
Germline		 Chr13:32338218 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA019007 rs_80358630

6 SubmittersRCV000044290RCV000113231RCV000735543RCV001176137
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter) SNV
Germline		 Chr13:32338226 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA019043 rs_80358631

6 SubmittersRCV000113234RCV003473333RCV003529932
NM_000059.4(BRCA2):c.3881T>A (p.Leu1294Ter) SNV
Germline		 Chr13:32338236 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA019063 rs_80358632

4 SubmittersRCV000113235RCV001381531
NM_000059.4(BRCA2):c.3893T>C (p.Ile1298Thr) SNV
Germline		 Chr13:32338248 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA019075 rs_80358633

6 SubmittersRCV000113236RCV000566464RCV000985514RCV001303991RCV003147332
NM_000059.4(BRCA2):c.3917T>C (p.Val1306Ala) SNV
Germline		 Chr13:32338272 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA019180 rs_80358637

3 SubmittersRCV000113242RCV001852938RCV003156768
NM_000059.4(BRCA2):c.3938A>C (p.Tyr1313Ser) SNV
Germline		 Chr13:32338293 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA019228 rs_80358639

3 SubmittersRCV000113244RCV001370201RCV003156769
NM_000059.4(BRCA2):c.3939C>A (p.Tyr1313Ter) SNV
Germline		 Chr13:32338294 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA019241 rs_80358641

5 SubmittersRCV000113246RCV001383062RCV002371860
NM_000059.4(BRCA2):c.3958G>T (p.Glu1320Ter) SNV
Germline		 Chr13:32338313 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA019267 rs_80358644

6 SubmittersRCV000113251RCV000773262RCV001382677
NM_000059.4(BRCA2):c.3962A>G (p.Asp1321Gly) SNV
Germline		 Chr13:32338317 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA019277 rs_80358645

10 SubmittersRCV000113252RCV000212233RCV000571707RCV001320562RCV002267811
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr) SNV
Germline		 Chr13:32338320 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019283 rs_80358646

12 SubmittersRCV000113253RCV000165691RCV000483586RCV000770722RCV000780038RCV001325825
NM_000059.4(BRCA2):c.3966C>G (p.Asn1322Lys) SNV
Germline		 Chr13:32338321 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019298 rs_80358647

10 SubmittersRCV000077317RCV000572841RCV000759607RCV000781155RCV001306019
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter) SNV
Germline		 Chr13:32338322 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA019306 rs_80358648

10 SubmittersRCV000113255RCV000131094RCV000485337RCV001193724RCV003473334
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile) SNV
Germline		 Chr13:32316463 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided		 Reviewed By Expert Panel
 CA019362 rs_80358650

16 SubmittersRCV000044328RCV000083102RCV000162893RCV001271035RCV003237421
NM_000059.4(BRCA2):c.4001T>A (p.Leu1334Ter) SNV
Germline		 Chr13:32338356 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA019375 rs_80358652

5 SubmittersRCV000113257RCV001804769
NM_000059.4(BRCA2):c.4039G>C (p.Val1347Leu) SNV
Germline		 Chr13:32338394 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019421 rs_80358653

7 SubmittersRCV000113264RCV000520753RCV000570365RCV001326562
NM_000059.4(BRCA2):c.4095T>A (p.Cys1365Ter) SNV
Germline		 Chr13:32338450 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided		 Reviewed By Expert Panel
 CA019517 rs_80358658

10 SubmittersRCV000113273RCV000447449RCV001383063RCV003460579RCV002465497
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter) SNV
Germline/somatic		 Chr13:32338466 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of urinary bladder
Familial cancer of breast		 Reviewed By Expert Panel
 CA019545 rs_80358659

16 SubmittersRCV000044353RCV000077320RCV000131073RCV000478066RCV001001276RCV001310148RCV003332099RCV003473335
NM_000059.4(BRCA2):c.4174G>A (p.Val1392Ile) SNV
Germline		 Chr13:32338529 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA019667 rs_80358661

8 SubmittersRCV000044367RCV000113283RCV000165447RCV001575818
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) SNV
Germline		 Chr13:32325184 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA019823 rs_397507713

8 SubmittersRCV000213168RCV000521547RCV000709287RCV000988985RCV002265580
NM_000059.4(BRCA2):c.4285C>T (p.Gln1429Ter) SNV
Germline		 Chr13:32338640 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA019916 rs_80358665

6 SubmittersRCV000044388RCV000113290RCV000219511RCV003473338
NM_000059.4(BRCA2):c.4301A>T (p.Lys1434Ile) SNV
Germline		 Chr13:32338656 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA019939 rs_397507714

8 SubmittersRCV000044389RCV000131680RCV000506062RCV001800339RCV003996472
NM_000059.4(BRCA2):c.4315G>A (p.Ala1439Thr) SNV
Germline		 Chr13:32338670 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019960 rs_80358666

12 SubmittersRCV000113292RCV000129972RCV000513615RCV001295103
NM_000059.4(BRCA2):c.4318A>G (p.Lys1440Glu) SNV
Germline		 Chr13:32338673 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019972 rs_80358668

8 SubmittersRCV000113293RCV000130424RCV001249861
NM_000059.4(BRCA2):c.4319A>G (p.Lys1440Arg) SNV
Germline		 Chr13:32338674 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA019980 rs_80358669

8 SubmittersRCV000044394RCV000113294RCV000130008RCV003237422
NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter) SNV
Germline		 Chr13:32338680 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast		 Reviewed By Expert Panel
 CA019986 rs_80358670

11 SubmittersRCV000044395RCV000113295RCV000505839RCV000510062RCV001002014RCV003473339
NM_000059.4(BRCA2):c.4352A>G (p.Asp1451Gly) SNV
Germline		 Chr13:32338707 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA020025 rs_80358671

4 SubmittersRCV000044398RCV000113298RCV001022341
NM_000059.4(BRCA2):c.4372C>T (p.His1458Tyr) SNV
Germline		 Chr13:32338727 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA020050 rs_80358672

11 SubmittersRCV000044399RCV000077323RCV000216745RCV000480609RCV001175060RCV002250512
NM_000059.4(BRCA2):c.439C>T (p.Gln147Ter) SNV
Germline		 Chr13:32326114 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA020093 rs_397507717

5 SubmittersRCV000241305RCV001174632RCV003372613RCV003460581
NM_000059.4(BRCA2):c.442T>C (p.Cys148Arg) SNV
Germline		 Chr13:32326117 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA020175 rs_80358677

10 SubmittersRCV000077325RCV000044413RCV000214740RCV000440751RCV000985524RCV003460582
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr) SNV
Germline		 Chr13:32338791 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020182 rs_80358678

11 SubmittersRCV000044414RCV000113303RCV000131309RCV000586286RCV001081171
NM_000059.4(BRCA2):c.4440T>G (p.Tyr1480Ter) SNV
Germline		 Chr13:32338795 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Genetic non-acquired premature ovarian failure
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA020187 rs_397507719

6 SubmittersRCV000222409RCV000225483RCV000770916RCV001387952RCV002326767
NM_000059.4(BRCA2):c.4483G>A (p.Val1495Ile) SNV
Germline		 Chr13:32338838 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020274 rs_80358680

7 SubmittersRCV000113309RCV000131290RCV000212236RCV001401014
NM_000059.4(BRCA2):c.4513A>G (p.Thr1505Ala) SNV
Germline		 Chr13:32338868 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020295 rs_80358682

9 SubmittersRCV000113310RCV000485977RCV000569819RCV000766851RCV001370442
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter) SNV
Germline		 Chr13:32338880 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Cancer of the pancreas
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related disorder		 Reviewed By Expert Panel
 CA020321 rs_80358683

11 SubmittersRCV000113311RCV000677847RCV000850058RCV001284566RCV001383065RCV002250514RCV004537193
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys) SNV
Germline		 Chr13:32338889 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Condition: not provided
Ovarian cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA020333 rs_80358684

17 SubmittersRCV000044428RCV000113312RCV000130950RCV001113729RCV000755874RCV003153336RCV003230379
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His) SNV
Germline		 Chr13:32338890 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
8 conditions
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA020346 rs_80358685

11 SubmittersRCV000044429RCV000113313RCV000167383RCV000481718RCV000509510RCV000763888RCV001353969
NM_000059.4(BRCA2):c.4537G>A (p.Asp1513Asn) SNV
Germline		 Chr13:32338892 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020363 rs_80358687

5 SubmittersRCV000113315RCV000508071RCV000773264RCV001367592
NM_000059.4(BRCA2):c.4547T>A (p.Ile1516Asn) SNV
Germline		 Chr13:32338902 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA020395 rs_80358689

5 SubmittersRCV000113318RCV000735550RCV001317093RCV002336169
NM_000059.4(BRCA2):c.4558A>G (p.Thr1520Ala) SNV
Germline		 Chr13:32338913 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA020437 rs_80358690

4 SubmittersRCV000113320RCV000483594RCV001316741RCV003156775
NM_000059.4(BRCA2):c.455C>A (p.Thr152Lys) SNV
Germline		 Chr13:32326130 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA020444 rs_80358691

10 SubmittersRCV000113613RCV000195370RCV000213276RCV000588748RCV003235005
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) SNV
Germline		 Chr13:32338943 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA020499 rs_80358692

19 SubmittersRCV000044447RCV000077329RCV000162921RCV000212238RCV001762137
NM_000059.4(BRCA2):c.4589A>G (p.Lys1530Arg) SNV
Germline		 Chr13:32338944 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA020502 rs_397507730

4 SubmittersRCV000218367RCV001852940RCV003335074
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn) SNV
Germline		 Chr13:32338954 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Breast neoplasm
Fanconi anemia complementation group D1
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA020526 rs_80358694

17 SubmittersRCV000044452RCV000077330RCV000129285RCV000212237RCV000413529RCV001109714RCV001281727RCV001353885RCV003149681
NM_000059.4(BRCA2):c.4655G>T (p.Gly1552Val) SNV
Germline		 Chr13:32339010 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020597 rs_80358696

7 SubmittersRCV000113327RCV000759620RCV001180083RCV001373896
NM_000059.4(BRCA2):c.4658C>T (p.Thr1553Ile) SNV
Germline		 Chr13:32339013 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA020606 rs_80358697

4 SubmittersRCV000113329RCV001305685RCV003156777
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg) SNV
Germline		 Chr13:32339017 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA020611 rs_276174845

13 SubmittersRCV000044465RCV000077332RCV000166993RCV000585939RCV003492353
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) SNV
Germline		 Chr13:32326142 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA020632 rs_68071147

18 SubmittersRCV000044468RCV000077333RCV000129132RCV000167806RCV001281728
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) SNV
Germline		 Chr13:32339036 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Breast neoplasm
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA020637 rs_2219594

26 SubmittersRCV000044469RCV000077334RCV000120328RCV000128957RCV000414161RCV000463461RCV001705697RCV003149682
NM_000059.4(BRCA2):c.4703A>G (p.Lys1568Arg) SNV
Germline		 Chr13:32339058 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA020687 rs_80358699

9 SubmittersRCV000113334RCV000213170RCV000256034RCV001309223RCV004542698
NM_000059.4(BRCA2):c.4718G>A (p.Cys1573Tyr) SNV
Germline		 Chr13:32339073 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020706 rs_56249050

10 SubmittersRCV000077337RCV000132250RCV000445221RCV000758898RCV001081098
NM_000059.4(BRCA2):c.4732T>G (p.Leu1578Val) SNV
Germline		 Chr13:32339087 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020729 rs_80358700

3 SubmittersRCV000113339RCV003156778RCV003644870
NM_000059.4(BRCA2):c.473C>T (p.Ser158Leu) SNV
Germline		 Chr13:32326148 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA020736 rs_80358701

6 SubmittersRCV000083109RCV000219972RCV001327463RCV003460585
NM_000059.4(BRCA2):c.475+1G>A SNV
Germline		 Chr13:32326151 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer
Condition: not provided		 Reviewed By Expert Panel
 CA020753 rs_81002797

9 SubmittersRCV000113644RCV000709289RCV002336170RCV003162376RCV003493422
NM_000059.4(BRCA2):c.475+1G>T SNV
Germline		 Chr13:32326151 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related disorder		 Reviewed By Expert Panel
 CA020757 rs_81002797

12 SubmittersRCV000044483RCV000113645RCV000162896RCV000255387RCV003460586RCV004528244
NM_000059.4(BRCA2):c.475+3A>G SNV
Germline		 Chr13:32326153 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020761 rs_81002795

7 SubmittersRCV000258385RCV000479466RCV000772645RCV001349387
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) SNV
Germline		 Chr13:32326150 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Carcinoma of pancreas
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA020781 rs_80358702

12 SubmittersRCV000113649RCV000218417RCV000236273RCV001379120RCV001391212RCV003473347
NM_000059.4(BRCA2):c.4802A>G (p.Asp1601Gly) SNV
Germline		 Chr13:32339157 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA020852 rs_80358704

6 SubmittersRCV000044495RCV000113344RCV000572672RCV001588864
NM_000059.4(BRCA2):c.4840A>G (p.Lys1614Glu) SNV
Germline		 Chr13:32339195 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020896 rs_80358706

4 SubmittersRCV000113349RCV000510015RCV001325226
NM_000059.4(BRCA2):c.4849A>C (p.Ser1617Arg) SNV
Germline		 Chr13:32339204 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020909 rs_80358707

7 SubmittersRCV000113351RCV000165988RCV000484473RCV000780022RCV001295742
NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu) SNV
Germline		 Chr13:32339209 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020918 rs_80358708

13 SubmittersRCV000077339RCV000222179RCV000479674RCV000590643RCV001362264
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser) SNV
Germline		 Chr13:32339211 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA020922 rs_80358709

11 SubmittersRCV000113352RCV000781110RCV000773266RCV001313202RCV001558036RCV004537195
NM_000059.4(BRCA2):c.4859T>G (p.Leu1620Ter) SNV
Germline		 Chr13:32339214 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA020929 rs_80358710

9 SubmittersRCV000113353RCV000496625RCV000657631RCV001525083
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter) SNV
Germline		 Chr13:32339244 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided		 Reviewed By Expert Panel
 CA020952 rs_80358711

5 SubmittersRCV000257254RCV001383850RCV003460587RCV003476926
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter) SNV
Germline		 Chr13:32339244 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA020955 rs_80358711

18 SubmittersRCV000044512RCV000077340RCV000131080RCV000255089RCV004566822
NM_000059.4(BRCA2):c.4894A>C (p.Ser1632Arg) SNV
Germline		 Chr13:32339249 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020968 rs_80358712

7 SubmittersRCV000113354RCV000164849RCV000508372RCV000586217RCV001372659
NM_000059.4(BRCA2):c.4897A>G (p.Ile1633Val) SNV
Germline		 Chr13:32339252 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA020971 rs_80358713

7 SubmittersRCV000044516RCV000113355RCV001023214RCV002277134
NM_000059.4(BRCA2):c.4898T>A (p.Ile1633Asn) SNV
Germline		 Chr13:32339253 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020974 rs_80358714

4 SubmittersRCV000113356RCV000165405RCV001347923
NM_000059.4(BRCA2):c.4901T>C (p.Phe1634Ser) SNV
Germline		 Chr13:32339256 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020983 rs_80358715

11 SubmittersRCV000113357RCV000166286RCV000254744RCV001463009
NM_000059.4(BRCA2):c.4925A>C (p.Asn1642Thr) SNV
Germline		 Chr13:32339280 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021014 rs_80358718

7 SubmittersRCV000044522RCV000083110RCV000570694RCV001800341
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) SNV
Germline		 Chr13:32339283 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA021023 rs_28897731

16 SubmittersRCV000044524RCV000077341RCV000163029RCV000416148RCV001353540RCV002307380
NM_000059.4(BRCA2):c.4954G>C (p.Ala1652Pro) SNV
Germline		 Chr13:32339309 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA021057 rs_80358720

3 SubmittersRCV000113362RCV001294754RCV003156779
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter) SNV
Germline		 Chr13:32339320 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
FLG-related disorder		 Reviewed By Expert Panel
 CA021066 rs_80358721

19 SubmittersRCV000083111RCV000496256RCV000758902RCV001175640RCV003460588RCV004549478
NM_000059.4(BRCA2):c.5020A>G (p.Ser1674Gly) SNV
Germline		 Chr13:32339375 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021135 rs_80358725

13 SubmittersRCV000044539RCV000113368RCV000129669RCV000218378RCV000588519
NM_000059.4(BRCA2):c.5035A>C (p.Thr1679Pro) SNV
Germline		 Chr13:32339390 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021160 rs_80358728

6 SubmittersRCV000113369RCV000214875RCV000586932RCV001372940
NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly) SNV
Germline		 Chr13:32339451 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA021240 rs_80358732

14 SubmittersRCV000044553RCV000113377RCV000130603RCV000587656RCV001175365
NM_000059.4(BRCA2):c.5098G>A (p.Gly1700Ser) SNV
Germline		 Chr13:32339453 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA021242 rs_80358733

8 SubmittersRCV000044554RCV000113378RCV000221190RCV000484596RCV001778688
NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter) SNV
Germline		 Chr13:32339456 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA021256 rs_397507758

10 SubmittersRCV000256540RCV000500448RCV000478939RCV001310153RCV003473353RCV002336174
NM_000059.4(BRCA2):c.5104C>T (p.Pro1702Ser) SNV
Germline		 Chr13:32339459 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021263 rs_80358734

6 SubmittersRCV000113379RCV000214445RCV001320852RCV002477146
NM_000059.4(BRCA2):c.5107G>C (p.Glu1703Gln) SNV
Germline		 Chr13:32339462 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021267 rs_80358735

4 SubmittersRCV000113380RCV002345332RCV002514195
NM_000059.4(BRCA2):c.5107G>T (p.Glu1703Ter) SNV
Germline		 Chr13:32339462 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA021274 rs_80358735

4 SubmittersRCV000113381RCV000496356RCV003298090
NM_000059.4(BRCA2):c.5113A>G (p.Ile1705Val) SNV
Germline		 Chr13:32339468 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA021283 rs_80358737

14 SubmittersRCV000083112RCV000130471RCV000217824RCV001348897RCV001192530
NM_000059.4(BRCA2):c.5119A>G (p.Thr1707Ala) SNV
Germline		 Chr13:32339474 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA021310 rs_80358738

4 SubmittersRCV000113383RCV001795039RCV002514196RCV003156782
NM_000059.4(BRCA2):c.516+1G>A SNV
Germline		 Chr13:32326283 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021479 rs_397507762

5 SubmittersRCV000258397RCV000478432RCV000563773RCV000586303
NM_000059.4(BRCA2):c.516+1G>C SNV
Germline		 Chr13:32326283 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021481 rs_397507762

5 SubmittersRCV000258169RCV000523730RCV000509726RCV003529933
NM_000059.4(BRCA2):c.516+2T>A SNV
Germline		 Chr13:32326284 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021489 rs_397507764

4 SubmittersRCV000258414RCV001387342RCV002336176RCV004542699
NM_000059.4(BRCA2):c.5167A>C (p.Thr1723Pro) SNV
Germline		 Chr13:32339522 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA021512 rs_80358742

3 SubmittersRCV000113391RCV002514197RCV003156783
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala) SNV
Germline		 Chr13:32339522 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021522 rs_80358742

14 SubmittersRCV000044582RCV000113392RCV000167513RCV000221189RCV000985538
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) SNV
Germline		 Chr13:32326282 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA021531 rs_80359790

12 SubmittersRCV000044583RCV000113726RCV001023653RCV001284089RCV004566823
NM_000059.4(BRCA2):c.517-11T>C SNV
Germline		 Chr13:32326488 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021543 rs_81002828

8 SubmittersRCV000113727RCV000581101RCV000589738RCV000613248RCV001081495
NM_000059.4(BRCA2):c.517-16T>C SNV
Germline		 Chr13:32326483 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA021551 rs_81002839

5 SubmittersRCV000044586RCV000113728RCV000442283RCV001186982
NM_000059.4(BRCA2):c.517-1G>A SNV
Germline		 Chr13:32326498 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021567 rs_81002849

8 SubmittersRCV000113730RCV000131857RCV000709290RCV001588865RCV003460589
NM_000059.4(BRCA2):c.517-2A>G SNV
Germline		 Chr13:32326497 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA021578 rs_81002858

21 SubmittersRCV000044589RCV000077347RCV000162897RCV000221055RCV001171442RCV003473357
NM_000059.4(BRCA2):c.517-4C>G SNV
Germline		 Chr13:32326495 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Malignant tumor of breast
Inherited breast cancer and ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA021589 rs_81002804

18 SubmittersRCV000044590RCV000113731RCV000131488RCV000212206RCV001083460RCV001111541RCV001355912RCV004584182
NM_000059.4(BRCA2):c.5171T>C (p.Ile1724Thr) SNV
Germline		 Chr13:32339526 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA021569 rs_80358743

10 SubmittersRCV000044591RCV000074534RCV000113393RCV000131403RCV000985249RCV001353973
NM_000059.4(BRCA2):c.517G>T (p.Gly173Cys) SNV
Germline		 Chr13:32326499 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021603 rs_397507768

5 SubmittersRCV000220016RCV000239003RCV000506327RCV001301980
NM_000059.4(BRCA2):c.5182G>A (p.Asp1728Asn) SNV
Germline		 Chr13:32339537 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021620 rs_80358744

5 SubmittersRCV000113395RCV000220094RCV001363319
NM_000059.4(BRCA2):c.5188A>T (p.Asn1730Tyr) SNV
Germline		 Chr13:32339543 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021622 rs_397507770

4 SubmittersRCV000576951RCV002336177RCV002514198
NM_000059.4(BRCA2):c.5191C>A (p.His1731Asn) SNV
Germline		 Chr13:32339546 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA021640 rs_80358745

12 SubmittersRCV000077348RCV000167854RCV000222021RCV000586989RCV001800343RCV003492354
NM_000059.4(BRCA2):c.5217T>A (p.Tyr1739Ter) SNV
Germline		 Chr13:32339572 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA021745 rs_80358746

5 SubmittersRCV000113399RCV001023745RCV001390590
NM_000059.4(BRCA2):c.521G>A (p.Arg174His) SNV
Germline		 Chr13:32326503 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021758 rs_80358747

8 SubmittersRCV000044616RCV000083114RCV000165821RCV000427870RCV000985540
NM_000059.4(BRCA2):c.5249C>T (p.Ser1750Phe) SNV
Germline		 Chr13:32339604 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021849 rs_80358748

9 SubmittersRCV000044619RCV000113410RCV000130265RCV000483481RCV000766556
NM_000059.4(BRCA2):c.5254C>T (p.His1752Tyr) SNV
Germline		 Chr13:32339609 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021863 rs_80358749

5 SubmittersRCV000113411RCV001363808RCV003156784RCV003476927
NM_000059.4(BRCA2):c.5272A>G (p.Asn1758Asp) SNV
Germline		 Chr13:32339627 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA021918 rs_80358750

11 SubmittersRCV000044624RCV000113413RCV000562802RCV000589423RCV003387744
NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter) SNV
Germline		 Chr13:32339634 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided		 Reviewed By Expert Panel
 CA021930 rs_80358751

13 SubmittersRCV000044625RCV000113414RCV000131074RCV003460591RCV003476928
NM_000059.4(BRCA2):c.5282G>A (p.Gly1761Glu) SNV
Germline		 Chr13:32339637 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA021937 rs_80358752

7 SubmittersRCV000083115RCV000129736RCV001342558RCV001800344
NM_000059.4(BRCA2):c.5285A>C (p.Tyr1762Ser) SNV
Germline		 Chr13:32339640 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021948 rs_80358753

7 SubmittersRCV000044627RCV000113416RCV000566469RCV003237423
NM_000059.4(BRCA2):c.5286T>A (p.Tyr1762Ter) SNV
Germline		 Chr13:32339641 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA021955 rs_80358754

9 SubmittersRCV000113417RCV000781162RCV001689599RCV002345333
NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter) SNV
Germline		 Chr13:32339646 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA021968 rs_397507778

6 SubmittersRCV000577424RCV000661753RCV001023875RCV001310157RCV001390627
NM_000059.4(BRCA2):c.5342A>G (p.Asp1781Gly) SNV
Germline		 Chr13:32339697 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022044 rs_80358756

8 SubmittersRCV000044635RCV000113420RCV000214135RCV001753457
NM_000059.4(BRCA2):c.5344C>A (p.Gln1782Lys) SNV
Germline		 Chr13:32339699 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022062 rs_80358757

11 SubmittersRCV000044636RCV000113421RCV000132498RCV000421612RCV001284428
NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter) SNV
Germline		 Chr13:32339699 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA022075 rs_80358757

8 SubmittersRCV000113422RCV000496507RCV003473360RCV003162380
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly) SNV
Germline		 Chr13:32339745 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022204 rs_80358760

15 SubmittersRCV000044649RCV000113425RCV000167078RCV001284430
NM_000059.4(BRCA2):c.5404C>T (p.Gln1802Ter) SNV
Germline		 Chr13:32339759 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA022246 rs_80358763

7 SubmittersRCV000113426RCV001381023RCV001804771RCV003460592
NM_000059.4(BRCA2):c.5405A>G (p.Gln1802Arg) SNV
Germline		 Chr13:32339760 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022254 rs_80358764

9 SubmittersRCV000083117RCV000478720RCV000575899RCV001349274
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) SNV
Germline		 Chr13:32339769 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Fanconi anemia complementation group D1
Malignant tumor of breast
Familial cancer of breast
Inherited breast cancer and ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA022277 rs_80358765

21 SubmittersRCV000044656RCV000113427RCV000131487RCV000590661RCV000855580RCV001112467RCV001358175RCV003607214RCV004584183
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile) SNV
Germline		 Chr13:32339783 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
BRCA2-related disorder
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA022313 rs_80358766

17 SubmittersRCV000044658RCV000077352RCV000214539RCV000219100RCV000589093RCV001353798RCV003483453RCV003492356
NM_000059.4(BRCA2):c.5434G>T (p.Glu1812Ter) SNV
Germline		 Chr13:32339789 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA022320 rs_80358767

7 SubmittersRCV000113430RCV000509828RCV001174724
NM_000059.4(BRCA2):c.5471A>G (p.Asn1824Ser) SNV
Germline		 Chr13:32339826 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022396 rs_80358769

4 SubmittersRCV000113435RCV000571132RCV001852942
NM_000059.4(BRCA2):c.5479A>G (p.Ile1827Val) SNV
Germline		 Chr13:32339834 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022413 rs_80358770

8 SubmittersRCV000044669RCV000113437RCV000482352RCV000562248
NM_000059.4(BRCA2):c.5503A>G (p.Asn1835Asp) SNV
Germline		 Chr13:32339858 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA022464 rs_80358771

11 SubmittersRCV000044672RCV000113440RCV000213098RCV000220592RCV001000851RCV004537196
NM_000059.4(BRCA2):c.5505T>G (p.Asn1835Lys) SNV
Germline		 Chr13:32339860 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022469 rs_80358772

4 SubmittersRCV000113441RCV001307973RCV001192569RCV003156786
NM_000059.4(BRCA2):c.5507A>C (p.Asn1836Thr) SNV
Germline		 Chr13:32339862 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022478 rs_80358773

4 SubmittersRCV000044674RCV000113442RCV002345334
NM_000059.4(BRCA2):c.5508T>G (p.Asn1836Lys) SNV
Germline		 Chr13:32339863 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA022483 rs_80358774

8 SubmittersRCV000044675RCV000083119RCV000130155RCV001719796RCV002468998
NM_000059.4(BRCA2):c.5569G>T (p.Glu1857Ter) SNV
Germline		 Chr13:32339924 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA022581 rs_80358778

8 SubmittersRCV000113444RCV000496399RCV002345335RCV003492357
NM_000059.4(BRCA2):c.5596T>C (p.Phe1866Leu) SNV
Germline		 Chr13:32339951 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022674 rs_80358779

9 SubmittersRCV000113447RCV000165388RCV000779923RCV001284576RCV001852943
NM_000059.4(BRCA2):c.5602G>T (p.Asp1868Tyr) SNV
Germline		 Chr13:32339957 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022683 rs_80358781

5 SubmittersRCV000113448RCV000129963RCV001301982
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) SNV
Germline		 Chr13:32339967 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA022703 rs_80358782

16 SubmittersRCV000044695RCV000077355RCV000130705RCV000215831RCV000588661RCV003492358
NM_000059.4(BRCA2):c.5626G>T (p.Glu1876Ter) SNV
Germline		 Chr13:32339981 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA022743 rs_397507793

4 SubmittersRCV000129291RCV000241406RCV000657632RCV002514199
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) SNV
Germline		 Chr13:32339990 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Fanconi anemia complementation group D1
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA022780 rs_55996097

22 SubmittersRCV000077357RCV000129072RCV000167807RCV000168580RCV000336386RCV000755862RCV004542701
NM_000059.4(BRCA2):c.5651T>C (p.Ile1884Thr) SNV
Germline		 Chr13:32340006 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022855 rs_80358788

5 SubmittersRCV000113453RCV000216526RCV001346339
NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter) SNV
Germline		 Chr13:32340011 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast		 Reviewed By Expert Panel
 CA022876 rs_80358790

14 SubmittersRCV000044710RCV000113455RCV000446276RCV000480447RCV000735570RCV003460594
NM_000059.4(BRCA2):c.5660C>T (p.Thr1887Met) SNV
Germline		 Chr13:32340015 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA022886 rs_397507795

12 SubmittersRCV000129439RCV000239329RCV000507337RCV001349262RCV003318548RCV004542702
NM_000059.4(BRCA2):c.5663A>G (p.Lys1888Arg) SNV
Germline		 Chr13:32340018 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA022899 rs_80358791

13 SubmittersRCV000044713RCV000113457RCV000131719RCV000216952RCV000735571RCV000779946
NM_000059.4(BRCA2):c.5665A>T (p.Ile1889Phe) SNV
Germline		 Chr13:32340020 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022901 rs_80358792

3 SubmittersRCV000113458RCV001297734RCV003156787
NM_000059.4(BRCA2):c.5668A>G (p.Met1890Val) SNV
Germline		 Chr13:32340023 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022911 rs_80358793

7 SubmittersRCV000113459RCV000771296RCV000779963RCV001337165
NM_000059.4(BRCA2):c.5669T>C (p.Met1890Thr) SNV
Germline		 Chr13:32340024 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022917 rs_80358794

7 SubmittersRCV000113460RCV000212242RCV000574337RCV001304999
NM_000059.4(BRCA2):c.5714A>G (p.His1905Arg) SNV
Germline		 Chr13:32340069 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA023030 rs_80358796

8 SubmittersRCV000044725RCV000113466RCV000130620RCV000479143RCV002281732
NM_000059.4(BRCA2):c.5726A>G (p.Asp1909Gly) SNV
Germline		 Chr13:32340081 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023062 rs_80358798

6 SubmittersRCV000113471RCV000213615RCV000212243RCV001346742
NM_000059.4(BRCA2):c.5729A>G (p.Asn1910Ser) SNV
Germline		 Chr13:32340084 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023077 rs_276174863

6 SubmittersRCV000044733RCV000113473RCV000213160
NM_000059.4(BRCA2):c.572A>G (p.Asp191Gly) SNV
Germline		 Chr13:32326554 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023083 rs_397507798

3 SubmittersRCV000577576RCV003162382RCV004017342
NM_000059.4(BRCA2):c.572A>T (p.Asp191Val) SNV
Germline		 Chr13:32326554 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023086 rs_397507798

7 SubmittersRCV000129294RCV000486563RCV000411982RCV001373010RCV003153337
NM_000059.4(BRCA2):c.5734G>T (p.Glu1912Ter) SNV
Germline		 Chr13:32340089 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA023098 rs_397507800

4 SubmittersRCV000257767RCV001388097RCV002345337
NM_000059.4(BRCA2):c.5741G>C (p.Ser1914Thr) SNV
Germline		 Chr13:32340096 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA023125 rs_80358801

10 SubmittersRCV000044740RCV000113474RCV000217425RCV000214177RCV001000852RCV004537197
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr) SNV
Germline		 Chr13:32326557 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA023166 rs_80358805

15 SubmittersRCV000074544RCV000083120RCV000219992RCV000417374RCV000985251RCV003460595
NM_000059.4(BRCA2):c.5773C>T (p.Gln1925Ter) SNV
Germline		 Chr13:32340128 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA023205 rs_80358806

9 SubmittersRCV000113482RCV000496735RCV000579768RCV001353802RCV003460596
NM_000059.4(BRCA2):c.5782G>A (p.Glu1928Lys) SNV
Germline		 Chr13:32340137 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA023218 rs_56253082

11 SubmittersRCV000044753RCV000077360RCV000164827RCV000586545RCV001705699
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter) SNV
Germline		 Chr13:32340146 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
8 conditions
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA023241 rs_80358807

11 SubmittersRCV000077361RCV000131105RCV000763323RCV001723634RCV001852944
NM_000059.4(BRCA2):c.5804A>G (p.Asn1935Ser) SNV
Germline		 Chr13:32340159 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023260 rs_80358808

5 SubmittersRCV000113486RCV001024555RCV001312775RCV003325453
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) SNV
Germline		 Chr13:32326563 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
8 conditions		 Reviewed By Expert Panel
 CA023266 rs_80358809

16 SubmittersRCV000044763RCV000077362RCV000656583RCV000999879RCV001798236RCV002354232RCV002477150
NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro) SNV
Germline		 Chr13:32340191 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA023287 rs_80358811

10 SubmittersRCV000113490RCV000129417RCV000416524RCV000588442RCV002228136RCV002250516
NM_000059.4(BRCA2):c.5839C>T (p.Pro1947Ser) SNV
Germline		 Chr13:32340194 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA023289 rs_80358812

11 SubmittersRCV000044772RCV000113492RCV000132548RCV000768631RCV000781083RCV000985552RCV002250517
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) SNV
Germline		 Chr13:32340212 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
9 conditions
Breast and/or ovarian cancer
Malignant tumor of breast
Medulloblastoma
Familial cancer of breast
Wilms tumor 1
Malignant tumor of prostate		 Reviewed By Expert Panel
 CA023311 rs_80358814

30 SubmittersRCV000044775RCV000077363RCV000131117RCV000195356RCV000313209RCV000515293RCV000735575RCV001353570RCV001843470RCV001843467RCV001843468RCV001843469
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) SNV
Germline		 Chr13:32340219 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Malignant tumor of breast
8 conditions
Familial cancer of breast		 Reviewed By Expert Panel
 CA023317 rs_80358815

26 SubmittersRCV000044777RCV000077364RCV000162927RCV000221022RCV000505916RCV000735576RCV001353854RCV002496691RCV003473367
NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter) SNV
Germline		 Chr13:32340219 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA023319 rs_80358815

7 SubmittersRCV000131666RCV000241225RCV000519321RCV001386452RCV003147334
NM_000059.4(BRCA2):c.5866G>C (p.Asp1956His) SNV
Germline		 Chr13:32340221 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023321 rs_80358816

5 SubmittersRCV000113497RCV002354233RCV002514200
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val) SNV
Germline		 Chr13:32340224 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023323 rs_80358817

12 SubmittersRCV000044780RCV000129497RCV000113498RCV000203620RCV000513016
NM_000059.4(BRCA2):c.5891A>G (p.Lys1964Arg) SNV
Germline		 Chr13:32340246 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023341 rs_80358821

4 SubmittersRCV000113500RCV000575475RCV001367707
NM_000059.4(BRCA2):c.5925T>A (p.Cys1975Ter) SNV
Germline		 Chr13:32340280 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA023372 rs_80358825

4 SubmittersRCV000113503RCV000574746RCV001390628
NM_000059.4(BRCA2):c.5925T>G (p.Cys1975Trp) SNV
Germline		 Chr13:32340280 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023374 rs_80358825

5 SubmittersRCV000113504RCV001024689RCV002514201
NM_000059.4(BRCA2):c.5939C>T (p.Thr1980Ile) SNV
Germline		 Chr13:32340294 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023390 rs_80358827

6 SubmittersRCV000113506RCV000565166RCV001346088
NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter) SNV
Germline		 Chr13:32340314 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA023417 rs_80358828

11 SubmittersRCV000113510RCV000434288RCV000496769RCV000567880
NM_000059.4(BRCA2):c.5972C>T (p.Ala1991Val) SNV
Germline		 Chr13:32340327 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023438 rs_80358829

4 SubmittersRCV000113513RCV000414292RCV001857368RCV003157308
NM_000059.4(BRCA2):c.5975C>T (p.Ser1992Leu) SNV
Germline		 Chr13:32340330 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
BRCA2-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023440 rs_80358830

8 SubmittersRCV000044809RCV000113514RCV000236533RCV000572935RCV001535549RCV003884341
NM_000059.4(BRCA2):c.5981A>G (p.Gln1994Arg) SNV
Germline		 Chr13:32340336 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023444 rs_80358832

5 SubmittersRCV000113515RCV000773142RCV001344001
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) SNV
Germline		 Chr13:32340341 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA023455 rs_80358833

19 SubmittersRCV000044813RCV000077366RCV000129689RCV000195331RCV000318984RCV000859013RCV004537198
NM_000059.4(BRCA2):c.5992C>T (p.Gln1998Ter) SNV
Germline		 Chr13:32340347 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA023471 rs_397507819

7 SubmittersRCV000257054RCV000755860RCV001024766RCV001380760
NM_000059.4(BRCA2):c.6008T>C (p.Ile2003Thr) SNV
Germline		 Chr13:32340363 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023504 rs_80358837

4 SubmittersRCV000044818RCV000113519RCV002354236
NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter) SNV
Germline		 Chr13:32340380 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA023540 rs_80358838

10 SubmittersRCV000044821RCV000113520RCV000213281RCV000985555RCV003473368
NM_000059.4(BRCA2):c.6029T>G (p.Val2010Gly) SNV
Germline		 Chr13:32340384 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023542 rs_80358839

11 SubmittersRCV000077367RCV000129746RCV000212246RCV000709322
NM_000059.4(BRCA2):c.6037A>G (p.Lys2013Glu) SNV
Germline		 Chr13:32340392 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA023559 rs_80358840

8 SubmittersRCV000044826RCV000083121RCV000162633RCV001174723
NM_000059.4(BRCA2):c.6065C>G (p.Ser2022Ter) SNV
Germline		 Chr13:32340420 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast		 Reviewed By Expert Panel
 CA023591 rs_80358843

12 SubmittersRCV000113522RCV000217928RCV000429027RCV000503943RCV001353453RCV003460597
NM_000059.4(BRCA2):c.6070C>T (p.Gln2024Ter) SNV
Germline		 Chr13:32340425 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA023597 rs_80358844

8 SubmittersRCV000113524RCV000162929RCV001310127RCV001857369RCV003237424
NM_000059.4(BRCA2):c.6071A>G (p.Gln2024Arg) SNV
Germline		 Chr13:32340426 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA023602 rs_80358845

5 SubmittersRCV000044833RCV000113525RCV001182573RCV002228137
NM_000059.4(BRCA2):c.6079A>G (p.Arg2027Gly) SNV
Germline		 Chr13:32340434 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023620 rs_80358846

4 SubmittersRCV000113528RCV001347126RCV003157310
NM_000059.4(BRCA2):c.6086A>G (p.Glu2029Gly) SNV
Germline		 Chr13:32340441 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023636 rs_80358847

4 SubmittersRCV000113529RCV003157311RCV003529934
NM_000059.4(BRCA2):c.6099A>G (p.Ile2033Met) SNV
Germline		 Chr13:32340454 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA023650 rs_80358848

6 SubmittersRCV000113531RCV000164759RCV001309364RCV004537199
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His) SNV
Germline		 Chr13:32340456 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023655 rs_80358849

11 SubmittersRCV000083122RCV000120341RCV000166225RCV001110580RCV001374119RCV001529429
NM_000059.4(BRCA2):c.6118A>T (p.Ile2040Leu) SNV
Germline		 Chr13:32340473 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023672 rs_80358850

6 SubmittersRCV000044849RCV000113534RCV000129331RCV003105784
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter) SNV
Germline		 Chr13:32340479 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA023676 rs_80358851

12 SubmittersRCV000044850RCV000077369RCV000223048RCV000563525RCV003473370
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile) SNV
Germline		 Chr13:32340503 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary cancer-predisposing syndrome
8 conditions
Malignant tumor of breast
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023698 rs_80358854

12 SubmittersRCV000083123RCV000240684RCV000510133RCV000763893RCV001354612RCV001194410RCV001852947RCV002250519RCV003156222
NM_000059.4(BRCA2):c.6160G>C (p.Ala2054Pro) SNV
Germline		 Chr13:32340515 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023708 rs_80358855

3 SubmittersRCV000113538RCV001300745RCV003157312
NM_000059.4(BRCA2):c.6172T>A (p.Phe2058Ile) SNV
Germline		 Chr13:32340527 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023714 rs_80358857

11 SubmittersRCV000044860RCV000083124RCV000129210RCV000587108
NM_000059.4(BRCA2):c.6212G>T (p.Ser2071Ile) SNV
Germline		 Chr13:32340567 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023756 rs_80358861

4 SubmittersRCV000113548RCV000215878RCV001373292
NM_000059.4(BRCA2):c.6239T>G (p.Leu2080Ter) SNV
Germline		 Chr13:32340594 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA023781 rs_80358864

4 SubmittersRCV000113554RCV002513646
NM_000059.4(BRCA2):c.623T>G (p.Val208Gly) SNV
Germline		 Chr13:32326605 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023784 rs_80358865

8 SubmittersRCV000113900RCV000166634RCV000759636RCV000781149RCV001313427
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys) SNV
Germline		 Chr13:32340636 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia complementation group D1		 Criteria Provided
Conflicting Classifications
 CA023819 rs_397507838

10 SubmittersRCV000083125RCV000486364RCV000580567RCV000709324RCV000759639RCV003225719
NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe) SNV
Germline		 Chr13:32340648 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023831 rs_80358867

11 SubmittersRCV000044890RCV000113560RCV000222689RCV000656797RCV001355427RCV003149685
NM_000059.4(BRCA2):c.6296G>C (p.Arg2099Thr) SNV
Germline		 Chr13:32340651 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023835 rs_80358868

5 SubmittersRCV000113561RCV000708683RCV001364048
NM_000059.4(BRCA2):c.6304G>T (p.Val2102Leu) SNV
Germline		 Chr13:32340659 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023842 rs_80358869

8 SubmittersRCV000113563RCV000485835RCV000771297RCV001320715
NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter) SNV
Germline		 Chr13:32340663 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA023844 rs_80358870

12 SubmittersRCV000113564RCV000217398RCV000580026RCV001390818
NM_000059.4(BRCA2):c.631+3A>G SNV
Germline		 Chr13:32326616 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA023855 rs_397507840

5 SubmittersRCV000044898RCV000258233RCV000575102
NM_000059.4(BRCA2):c.631+4A>G SNV
Germline		 Chr13:32326617 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023861 rs_397507841

5 SubmittersRCV000258315RCV001379699RCV002223776RCV002362664
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) SNV
Germline		 Chr13:32340672 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023867 rs_56172926

25 SubmittersRCV000044901RCV000077370RCV000131282RCV001085349RCV001112565RCV001705700RCV003492360
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile) SNV
Germline		 Chr13:32326613 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA023869 rs_80358871

15 SubmittersRCV000113917RCV000213157RCV000214066RCV000496306RCV000735584RCV003473372
NM_000059.4(BRCA2):c.632-1G>A SNV
Germline		 Chr13:32329442 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA023882 rs_81002820

6 SubmittersRCV000258249RCV000503670RCV001379700RCV002362665
NM_000059.4(BRCA2):c.632-1G>T SNV
Germline		 Chr13:32329442 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023888 rs_81002820

2 SubmittersRCV000509600RCV001379689
NM_000059.4(BRCA2):c.632-2A>G SNV
Germline		 Chr13:32329441 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA023891 rs_397507842

9 SubmittersRCV000220032RCV000258386RCV001387513RCV001804772RCV003473373
NM_000059.4(BRCA2):c.6329A>C (p.Asp2110Ala) SNV
Germline		 Chr13:32340684 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023917 rs_80358873

9 SubmittersRCV000113575RCV000589920RCV001316740RCV002362666
NM_000059.4(BRCA2):c.6359C>G (p.Ser2120Ter) SNV
Germline		 Chr13:32340714 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA023950 rs_397507845

6 SubmittersRCV000257199RCV000520827RCV000509973RCV001382837
NM_000059.4(BRCA2):c.6403A>C (p.Asn2135His) SNV
Germline		 Chr13:32340758 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023994 rs_80358876

8 SubmittersRCV000083127RCV000160110RCV000165986RCV001269229RCV000044933
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) SNV
Germline		 Chr13:32340767 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Breast neoplasm
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA024008 rs_11571659

28 SubmittersRCV000044938RCV000077373RCV000120342RCV000128955RCV000311226RCV000414271RCV000656613RCV003149687
NM_000059.4(BRCA2):c.6413T>A (p.Val2138Asp) SNV
Germline		 Chr13:32340768 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024010 rs_80358877

11 SubmittersRCV000113585RCV000120349RCV000223184RCV000767077RCV001421968
NM_000059.4(BRCA2):c.6434A>G (p.Asn2145Ser) SNV
Germline		 Chr13:32340789 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA024030 rs_80358878

9 SubmittersRCV000044945RCV000077374RCV000165446RCV000758928
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr) SNV
Germline		 Chr13:32340798 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA024042 rs_80358880

14 SubmittersRCV000044949RCV000077375RCV000130268RCV001080402RCV001353823RCV001800348
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu) SNV
Germline		 Chr13:32340813 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024073 rs_276174873

13 SubmittersRCV000113594RCV000131036RCV000218559RCV001306721RCV001193723RCV003607215
NM_000059.4(BRCA2):c.6461A>C (p.Tyr2154Ser) SNV
Germline		 Chr13:32340816 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024077 rs_80358882

6 SubmittersRCV000113595RCV000213967RCV001365312
NM_000059.4(BRCA2):c.6462T>G (p.Tyr2154Ter) SNV
Germline		 Chr13:32340817 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA024081 rs_80358883

4 SubmittersRCV000113596RCV002362670RCV003317058
NM_000059.4(BRCA2):c.6469C>T (p.Gln2157Ter) SNV
Germline		 Chr13:32340824 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast carcinoma		 Reviewed By Expert Panel
 CA024090 rs_397507859

8 SubmittersRCV000241247RCV000657633RCV000772762RCV001380430RCV001646539
NM_000059.4(BRCA2):c.6490C>T (p.Gln2164Ter) SNV
Germline/somatic		 Chr13:32340845 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA024107 rs_397507860

6 SubmittersRCV000044968RCV000241068RCV000509627RCV003332100
NM_000059.4(BRCA2):c.652G>T (p.Glu218Ter) SNV
Germline		 Chr13:32329463 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA024134 rs_80358884

5 SubmittersRCV000077377RCV000496596RCV001568953
NM_000059.4(BRCA2):c.6532C>A (p.His2178Asn) SNV
Germline		 Chr13:32340887 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA024142 rs_80358885

7 SubmittersRCV000113604RCV000709327RCV003157314
NM_000059.4(BRCA2):c.6547G>T (p.Glu2183Ter) SNV
Germline		 Chr13:32340902 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA024157 rs_397507866

7 SubmittersRCV000132475RCV000241124RCV001262869RCV002514203
NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu) SNV
Germline		 Chr13:32340905 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024160 rs_80358887

14 SubmittersRCV000113608RCV000129780RCV000587939RCV001175370RCV001085289RCV003607216
NM_000059.4(BRCA2):c.6557C>A (p.Ser2186Ter) SNV
Germline		 Chr13:32340912 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA024166 rs_397507867

7 SubmittersRCV000241520RCV001025409RCV001328339RCV001529430
NM_000059.4(BRCA2):c.6568G>A (p.Val2190Ile) SNV
Germline		 Chr13:32340923 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024184 rs_80358888

11 SubmittersRCV000077378RCV000132273RCV001355408RCV001420959RCV001500524
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met) SNV
Germline		 Chr13:32340968 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA024211 rs_80358889

14 SubmittersRCV000077379RCV000166043RCV000195375RCV000588118RCV000769700
NM_000059.4(BRCA2):c.6637T>C (p.Ser2213Pro) SNV
Germline		 Chr13:32340992 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA024236 rs_80358890

5 SubmittersRCV000113617RCV001192646RCV001304750RCV002362672
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) SNV
Germline		 Chr13:32341011 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Condition: not provided
Malignant tumor of breast
BRCA2-related disorder
Familial cancer of breast		 Reviewed By Expert Panel
 CA024263 rs_80358893

17 SubmittersRCV000113622RCV000447889RCV000502225RCV000763324RCV000985568RCV001353656RCV001813752RCV003473386
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys) SNV
Germline		 Chr13:32341020 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA024271 rs_397507875

12 SubmittersRCV000045012RCV000221087RCV000410387RCV000485026RCV000759647
NM_000059.4(BRCA2):c.6683T>C (p.Val2228Ala) SNV
Germline		 Chr13:32341038 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA024288 rs_80358894

9 SubmittersRCV000045017RCV000113629RCV000166253RCV000236365
NM_000059.4(BRCA2):c.6698C>A (p.Ala2233Asp) SNV
Germline		 Chr13:32341053 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA024306 rs_41293501

10 SubmittersRCV000045020RCV000113630RCV000165875RCV000212250RCV003323374
NM_000059.4(BRCA2):c.67+1G>A SNV
Germline/somatic		 Chr13:32316528 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA024334 rs_81002796

12 SubmittersRCV000077381RCV000218090RCV000496390RCV000510076RCV003332101RCV003162384
NM_000059.4(BRCA2):c.67+1G>T SNV
Germline		 Chr13:32316528 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA024336 rs_81002796

12 SubmittersRCV000045022RCV000077382RCV000162894RCV000505843RCV004566829
NM_000059.4(BRCA2):c.67+2T>A SNV
Germline		 Chr13:32316529 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA024344 rs_81002885

2 SubmittersRCV000113080RCV003529937
NM_000059.4(BRCA2):c.67+2T>C SNV
Germline		 Chr13:32316529 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA024346 rs_81002885

11 SubmittersRCV000045024RCV000113081RCV000985570
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys) SNV
Germline		 Chr13:32341061 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Fanconi anemia complementation group D1
8 conditions
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA024312 rs_41293503

14 SubmittersRCV000045026RCV000083129RCV000165940RCV000216299RCV000781142RCV001109885RCV000763895RCV003492361
NM_000059.4(BRCA2):c.6713A>G (p.Asp2238Gly) SNV
Germline		 Chr13:32341068 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024315 rs_80358895

10 SubmittersRCV000113631RCV000130198RCV000212251RCV000656798RCV001110667RCV001351104
NM_000059.4(BRCA2):c.6714T>G (p.Asp2238Glu) SNV
Germline		 Chr13:32341069 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA024319 rs_28897742

10 SubmittersRCV000212252RCV000113632RCV000218646RCV001351921RCV001356936
NM_000059.4(BRCA2):c.6722C>T (p.Thr2241Ile) SNV
Germline		 Chr13:32341077 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA024338 rs_276174877

4 SubmittersRCV000113634RCV000507446RCV001852950RCV003157316
NM_000059.4(BRCA2):c.673A>G (p.Thr225Ala) SNV
Germline		 Chr13:32329484 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024361 rs_80358897

8 SubmittersRCV000114001RCV000758933RCV001317442RCV002362675RCV004566830
NM_000059.4(BRCA2):c.6741T>A (p.Ser2247Arg) SNV
Germline		 Chr13:32341096 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA024363 rs_80358898

7 SubmittersRCV000045037RCV000113635RCV000773268RCV002281733
NM_000059.4(BRCA2):c.6767G>A (p.Cys2256Tyr) SNV
Germline		 Chr13:32341122 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA024391 rs_80358900

4 SubmittersRCV000113640RCV001301337RCV003157317
NM_000059.4(BRCA2):c.6768T>A (p.Cys2256Ter) SNV
Germline		 Chr13:32341123 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA024394 rs_80358901

6 SubmittersRCV000113641RCV000735590RCV001193921
NM_000059.4(BRCA2):c.676A>G (p.Thr226Ala) SNV
Germline		 Chr13:32329487 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024396 rs_80358902

8 SubmittersRCV000083130RCV000657115RCV001025627RCV001170222RCV001304291
NM_000059.4(BRCA2):c.6770C>G (p.Pro2257Arg) SNV
Germline		 Chr13:32341125 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA024398 rs_80358903

9 SubmittersRCV000113642RCV000574794RCV000852300RCV003476929
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg) SNV
Germline		 Chr13:32341140 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA024407 rs_80358904

12 SubmittersRCV000077383RCV000162802RCV000225748RCV001110668RCV001284581RCV001818218
NM_000059.4(BRCA2):c.6796A>C (p.Asn2266His) SNV
Germline		 Chr13:32341151 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024409 rs_80358905

10 SubmittersRCV000113643RCV000254921RCV001025653RCV000766642RCV003492362RCV000045048
NM_000059.4(BRCA2):c.6800C>A (p.Ser2267Ter) SNV
Germline		 Chr13:32341155 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA024416 rs_377698594

3 SubmittersRCV000577100RCV000661662RCV001852951
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys) SNV
Germline		 Chr13:32341158 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
BRCA2-related disorder
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA024418 rs_80358906

18 SubmittersRCV000045055RCV000077385RCV000131556RCV000587611RCV001086840RCV001353618RCV004537201RCV003492363
NM_000059.4(BRCA2):c.681+4A>G SNV
Germline		 Chr13:32329496 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA024432 rs_397507884

5 SubmittersRCV000258477RCV000564042RCV000589335
NM_000059.4(BRCA2):c.682-1G>C SNV
Germline		 Chr13:32330918 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA024456 rs_81002831

5 SubmittersRCV000114011RCV000215277RCV000496656RCV000758938
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) SNV
Germline		 Chr13:32341176 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Fanconi anemia complementation group D1
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA024458 rs_55712212

28 SubmittersRCV000045064RCV000074551RCV000077387RCV000131679RCV000735591RCV001110669RCV001200387RCV001270288RCV002294006RCV004528247
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr) SNV
Germline		 Chr13:32341181 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions		 Criteria Provided
Conflicting Classifications
 CA024465 rs_80358907

6 SubmittersRCV000113653RCV000569837RCV001298105RCV002496693
NM_000059.4(BRCA2):c.6826C>T (p.Pro2276Ser) SNV
Germline		 Chr13:32341181 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024466 rs_80358907

4 SubmittersRCV000113654RCV000213626RCV000045067
NM_000059.4(BRCA2):c.6842-11T>A SNV
Germline		 Chr13:32344547 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA024498 rs_81002877

5 SubmittersRCV000113663RCV000582303RCV001193203RCV001484190RCV003233098
NM_000059.4(BRCA2):c.6842-14A>G SNV
Germline		 Chr13:32344544 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA024500 rs_81002821

4 SubmittersRCV000113664RCV000587823RCV001417883RCV003584519
NM_000059.4(BRCA2):c.6842G>T (p.Gly2281Val) SNV
Germline		 Chr13:32344558 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024512 rs_80358908

7 SubmittersRCV000045078RCV000113668RCV000220896RCV001375610RCV001284583RCV002288545
NM_000059.4(BRCA2):c.6847C>G (p.Pro2283Ala) SNV
Germline		 Chr13:32344563 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024514 rs_80358909

10 SubmittersRCV000045079RCV000077388RCV000483877RCV000565946RCV003607217
NM_000059.4(BRCA2):c.6871A>G (p.Asn2291Asp) SNV
Germline		 Chr13:32344587 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA024527 rs_80358911

8 SubmittersRCV000113670RCV000435351RCV000566275RCV001460409RCV001703947RCV004537202
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu) SNV
Germline		 Chr13:32344593 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions
not specified		 Criteria Provided
Conflicting Classifications
 CA024533 rs_80358912

13 SubmittersRCV000045083RCV000077389RCV000132016RCV000174215RCV000765133RCV000779926
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys) SNV
Germline		 Chr13:32344608 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024544 rs_80358914

11 SubmittersRCV000045085RCV000083131RCV000218893RCV000433666RCV001088946RCV003460602
NM_000059.4(BRCA2):c.6938-2A>G SNV
Germline		 Chr13:32346825 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA024592 rs_81002863

10 SubmittersRCV000083132RCV000479362RCV000509741RCV000735592RCV000779943
NM_000059.4(BRCA2):c.6943A>C (p.Ile2315Leu) SNV
Germline		 Chr13:32346832 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA024601 rs_80358918

10 SubmittersRCV000113675RCV000130766RCV000587113RCV001345343RCV003493423
NM_000059.4(BRCA2):c.6986C>T (p.Pro2329Leu) SNV
Germline		 Chr13:32346875 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA024664 rs_80358925

12 SubmittersRCV000045102RCV000077392RCV000163085RCV000167790RCV000586419RCV001354293RCV003492364
NM_000059.4(BRCA2):c.7007+1G>C SNV
Germline		 Chr13:32346897 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA024701 rs_397507891

5 SubmittersRCV000258405RCV000509748RCV001171443RCV001386967
NM_000059.4(BRCA2):c.7007+1G>T SNV
Germline		 Chr13:32346897 Pathogenic/Likely pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA024704 rs_397507891

3 SubmittersRCV000482364RCV001175443RCV003234767
NM_000059.4(BRCA2):c.7007+5G>A SNV
Germline		 Chr13:32346901 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024707 rs_81002816

13 SubmittersRCV000045110RCV000077393RCV000167485RCV000481869RCV000735594RCV001171444RCV002222368RCV003473392
NM_000059.4(BRCA2):c.7007+5G>C SNV
Germline		 Chr13:32346901 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA024710 rs_81002816

2 SubmittersRCV000113684RCV001327861
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) SNV
Germline		 Chr13:32346896 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA024716 rs_28897743

16 SubmittersRCV000045113RCV000077394RCV000214499RCV000256059RCV000475905RCV001171445RCV001269283RCV001310135RCV001353724
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) SNV
Germline/somatic		 Chr13:32346896 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA024720 rs_28897743

10 SubmittersRCV000045114RCV000113685RCV000219635RCV000759653
NM_000059.4(BRCA2):c.7008-2A>G SNV
Germline		 Chr13:32354859 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided		 Reviewed By Expert Panel
 CA024734 rs_81002823

10 SubmittersRCV000113688RCV000496680RCV000509699RCV003473393RCV003476930
NM_000059.4(BRCA2):c.7008-2A>T SNV
Germline		 Chr13:32354859 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast		 Reviewed By Expert Panel
 CA024737 rs_81002823

14 SubmittersRCV000113689RCV000220759RCV000235662RCV000504523RCV000735596RCV003147335
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) SNV
Germline		 Chr13:32354877 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA024765 rs_80358928

17 SubmittersRCV000077396RCV000215667RCV000496229RCV000681960RCV003473394
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr) SNV
Germline		 Chr13:32354904 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
9 conditions
Condition: not provided
8 conditions
Malignant tumor of breast
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024798 rs_80358930

14 SubmittersRCV000045128RCV000113696RCV000130893RCV000212257RCV000515244RCV000656801RCV000765134RCV001353685RCV003607218
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu) SNV
Germline		 Chr13:32354908 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
8 conditions
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024812 rs_80358934

15 SubmittersRCV000045131RCV000222667RCV000113699RCV000588738RCV002477151RCV003493424RCV003460605
NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter) SNV
Germline		 Chr13:32354913 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA024825 rs_80358936

11 SubmittersRCV000045134RCV000113702RCV000484770RCV000496490RCV000510038
NM_000059.4(BRCA2):c.707A>G (p.His236Arg) SNV
Germline		 Chr13:32330944 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024845 rs_80358938

6 SubmittersRCV000114055RCV000566115RCV001369134RCV003460606
NM_000059.4(BRCA2):c.7115C>G (p.Ser2372Ter) SNV
Germline		 Chr13:32354968 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
BRCA2-related disorder		 Reviewed By Expert Panel
 CA024881 rs_80358943

10 SubmittersRCV000113711RCV000657591RCV001385695RCV002362676RCV003473395RCV004528249
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter) SNV
Germline		 Chr13:32355033 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA024928 rs_80358946

15 SubmittersRCV000045156RCV000077398RCV000131033RCV000985577RCV003473397
NM_000059.4(BRCA2):c.71T>A (p.Leu24Ter) SNV
Germline		 Chr13:32319080 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA024957 rs_397507902

4 SubmittersRCV000577511RCV000583843RCV000661423RCV001380573
NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter) SNV
Germline		 Chr13:32355094 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA024987 rs_80358951

7 SubmittersRCV000113736RCV000217367RCV000482316RCV001389019
NM_000059.4(BRCA2):c.7241C>T (p.Ser2414Leu) SNV
Germline		 Chr13:32355094 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024989 rs_80358951

6 SubmittersRCV000113737RCV000566196RCV002054867RCV004566835
NM_000059.4(BRCA2):c.7252A>G (p.Arg2418Gly) SNV
Germline		 Chr13:32355105 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA024996 rs_80358953

8 SubmittersRCV000045176RCV000113740RCV000163032RCV000443470RCV000586914
NM_000059.4(BRCA2):c.7261C>T (p.Gln2421Ter) SNV
Germline		 Chr13:32355114 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025004 rs_397507908

6 SubmittersRCV000241497RCV003237425RCV003529939
NM_000059.4(BRCA2):c.7301A>C (p.Lys2434Thr) SNV
Germline		 Chr13:32355154 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Endometrial carcinoma		 Criteria Provided
Conflicting Classifications
 CA025018 rs_80358954

8 SubmittersRCV000113743RCV000212258RCV000562219RCV001314286RCV001356899
NM_000059.4(BRCA2):c.7313A>G (p.Asp2438Gly) SNV
Germline		 Chr13:32355166 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA025026 rs_80358957

10 SubmittersRCV000045186RCV000113745RCV000165902RCV000435280RCV003149689
NM_000059.4(BRCA2):c.733A>T (p.Arg245Ter) SNV
Germline		 Chr13:32330970 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder		 Reviewed By Expert Panel
 CA025035 rs_80358959

6 SubmittersRCV000114103RCV001382892RCV002460900RCV004528251
NM_000059.4(BRCA2):c.7375A>T (p.Lys2459Ter) SNV
Germline		 Chr13:32355228 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025046 rs_397507913

4 SubmittersRCV000257076RCV000570827RCV001852954
NM_000059.4(BRCA2):c.7394C>T (p.Ala2465Val) SNV
Germline		 Chr13:32355247 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025052 rs_80358960

7 SubmittersRCV000113750RCV000564154RCV001296258RCV004562232
NM_000059.4(BRCA2):c.740T>C (p.Ile247Thr) SNV
Germline		 Chr13:32330977 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA025060 rs_80358962

6 SubmittersRCV000045201RCV000114112RCV000220097
NM_000059.4(BRCA2):c.7418G>A (p.Cys2473Tyr) SNV
Germline		 Chr13:32355271 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025072 rs_55924966

7 SubmittersRCV000113753RCV000132080RCV001192570RCV001284106RCV001462591
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) SNV
Germline		 Chr13:32330979 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast neoplasm
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Carcinoma of colon		 Criteria Provided
Conflicting Classifications
 CA025077 rs_55854959

17 SubmittersRCV000114118RCV000131381RCV000148438RCV000120387RCV000586272RCV001087231RCV001798238RCV001355487
NM_000059.3(BRCA2):c.7435+10G>A SNV
Germline		 Chr13:32355298 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
not specified
Hereditary cancer-predisposing syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025078 rs_81002793

9 SubmittersRCV000045210RCV000113755RCV000302479RCV000426181RCV000579409RCV004542704
NM_000059.4(BRCA2):c.7436-2A>T SNV
Germline		 Chr13:32356426 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025085 rs_397507917

5 SubmittersRCV000258319RCV000588162RCV001179861
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn) SNV
Germline		 Chr13:32356440 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025094 rs_80358967

13 SubmittersRCV000045220RCV000083134RCV000129898RCV000586632RCV001082083
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys) SNV
Germline		 Chr13:32356455 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025097 rs_80358968

15 SubmittersRCV000077401RCV000168600RCV000563199RCV001284108RCV001410830
NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser) SNV
Germline		 Chr13:32356456 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025098 rs_80358969

10 SubmittersRCV000113764RCV000164219RCV000759655RCV001110755RCV001305633RCV004566836
NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter) SNV
Germline/somatic		 Chr13:32356463 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast		 Reviewed By Expert Panel
 CA025106 rs_80358971

9 SubmittersRCV000113766RCV000496673RCV000509717RCV001357153RCV004566837
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln) SNV
Germline		 Chr13:32356473 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025110 rs_80358973

9 SubmittersRCV000083135RCV000164832RCV000478347RCV000709331RCV001375523
NM_000059.4(BRCA2):c.7484T>C (p.Ile2495Thr) SNV
Germline		 Chr13:32356476 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025112 rs_80358974

10 SubmittersRCV000077402RCV000162811RCV000478977RCV000657023RCV001080469RCV000779955
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) SNV
Germline		 Chr13:32356514 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast neoplasm
Infiltrating duct carcinoma of breast
Ovarian cancer
Cancer of the pancreas
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025130 rs_80358978

18 SubmittersRCV000077404RCV000120359RCV000164682RCV000203651RCV000240741RCV000677860RCV000677861RCV000677862RCV001084266RCV001353972RCV002250521
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) SNV
Germline		 Chr13:32356550 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
Familial cancer of breast		 Reviewed By Expert Panel
 CA025146 rs_80358981

35 SubmittersRCV000045244RCV000077405RCV000148425RCV000162645RCV000210182RCV000217859RCV001170971RCV001353932RCV002250522
NM_000059.4(BRCA2):c.7562T>C (p.Ile2521Thr) SNV
Germline		 Chr13:32356554 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025152 rs_80358984

6 SubmittersRCV000083137RCV000572552RCV002267816RCV002054868
NM_000059.4(BRCA2):c.7583G>A (p.Gly2528Glu) SNV
Germline		 Chr13:32356575 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025162 rs_80358986

4 SubmittersRCV000113777RCV001191394RCV003644872
NM_000059.4(BRCA2):c.7612A>T (p.Lys2538Ter) SNV
Germline		 Chr13:32356604 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025180 rs_397507921

3 SubmittersRCV000257025RCV001852955
NM_000059.4(BRCA2):c.7617+1G>A SNV
Germline		 Chr13:32356610 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA025182 rs_397507922

14 SubmittersRCV000045259RCV000083138RCV000486153RCV000579436RCV003473403
NM_000059.4(BRCA2):c.7617+1G>T SNV
Germline		 Chr13:32356610 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025183 rs_397507922

12 SubmittersRCV000258277RCV000585725RCV001190945RCV001264497
NM_000059.4(BRCA2):c.7617+2T>G SNV
Germline		 Chr13:32356611 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
8 conditions		 Reviewed By Expert Panel
 CA025184 rs_81002843

12 SubmittersRCV000045261RCV000113793RCV001701586RCV001804774RCV002504935
NM_000059.4(BRCA2):c.7617+4T>C SNV
Germline		 Chr13:32356613 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025185 rs_397507923

6 SubmittersRCV000045262RCV000083139RCV000130854RCV000508569RCV001675600
NM_000059.4(BRCA2):c.7618-16T>G SNV
Germline		 Chr13:32357726 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025187 rs_397507924

4 SubmittersRCV000235946RCV000771917RCV000781058RCV001084315
NM_000059.4(BRCA2):c.7631G>A (p.Gly2544Asp) SNV
Germline		 Chr13:32357755 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA025201 rs_397507926

6 SubmittersRCV000045271RCV000214936RCV000483279RCV002250523RCV003493426
NM_000059.4(BRCA2):c.7633G>A (p.Val2545Ile) SNV
Germline		 Chr13:32357757 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025202 rs_80358990

8 SubmittersRCV000045272RCV000113799RCV000130821RCV000212262RCV003607219
NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter) SNV
Germline		 Chr13:32357805 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA025228 rs_80358994

11 SubmittersRCV000083140RCV000496838RCV000507834RCV000773271RCV003460612
NM_000059.4(BRCA2):c.7696G>T (p.Asp2566Tyr) SNV
Germline		 Chr13:32357820 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025235 rs_80358996

4 SubmittersRCV000113806RCV000574470RCV001298239RCV003330413
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly) SNV
Germline		 Chr13:32357836 Conflicting classifications of pathogenicity Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA025242 rs_55689095

13 SubmittersRCV000045293RCV000113807RCV000130819RCV000195380RCV000590609RCV001549278RCV003492366
NM_000059.4(BRCA2):c.7721G>A (p.Trp2574Ter) SNV
Germline		 Chr13:32357845 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA025247 rs_80358997

9 SubmittersRCV000077408RCV000416519RCV000657751RCV001026755RCV003473405
NM_000059.4(BRCA2):c.772C>T (p.Gln258Ter) SNV
Germline		 Chr13:32331009 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA025248 rs_80358998

9 SubmittersRCV000045296RCV000077409RCV000131846RCV004566838
NM_000059.4(BRCA2):c.7738C>T (p.Gln2580Ter) SNV
Germline		 Chr13:32357862 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025250 rs_80358999

7 SubmittersRCV000113809RCV000496258
NM_000059.4(BRCA2):c.7751G>A (p.Gly2584Asp) SNV
Germline		 Chr13:32357875 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025256 rs_80359001

6 SubmittersRCV000113811RCV000131991RCV000485049RCV001371400RCV002281734
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg) SNV
Germline		 Chr13:32357877 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025257 rs_80359002

9 SubmittersRCV000113812RCV000212263RCV000773272RCV001290191
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter) SNV
Germline		 Chr13:32357881 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast		 Reviewed By Expert Panel
 CA025259 rs_80359003

17 SubmittersRCV000045302RCV000077410RCV000131087RCV000215688RCV000735604RCV003460613
NM_000059.4(BRCA2):c.7766C>A (p.Pro2589His) SNV
Germline		 Chr13:32357890 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA025267 rs_80359005

5 SubmittersRCV000045308RCV000083141RCV000509978
NM_000059.4(BRCA2):c.7805+1G>A SNV
Germline		 Chr13:32357930 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025280 rs_81002809

9 SubmittersRCV000077411RCV000239169RCV000573701RCV003473406
NM_000059.4(BRCA2):c.7805+8A>G SNV
Germline		 Chr13:32357937 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025284 rs_81002847

7 SubmittersRCV000077413RCV000507747RCV000581094RCV000758952RCV001088875
NM_000059.4(BRCA2):c.7806-1G>T SNV
Germline		 Chr13:32362522 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025288 rs_81002860

10 SubmittersRCV000113825RCV000583733RCV000779979RCV001284586
NM_000059.4(BRCA2):c.7806-2A>G SNV
Germline		 Chr13:32362521 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast		 Reviewed By Expert Panel
 CA025289 rs_81002836

21 SubmittersRCV000045321RCV000077414RCV000131088RCV000414989RCV001281729RCV001310176RCV003473407
NM_000059.4(BRCA2):c.7806-9T>G SNV
Germline/somatic		 Chr13:32362514 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025293 rs_397507939

4 SubmittersRCV000113827RCV000496319RCV003529940
NM_000059.4(BRCA2):c.7819A>C (p.Thr2607Pro) SNV
Germline		 Chr13:32362536 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA025298 rs_80359008

3 SubmittersRCV000045325RCV000113829RCV002408543
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) SNV
Germline		 Chr13:32362543 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025300 rs_80359009

7 SubmittersRCV000113831RCV000500087RCV001176367RCV001353930
NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly) SNV
Germline		 Chr13:32362549 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025304 rs_80359010

10 SubmittersRCV000045327RCV000113832RCV000165314RCV001762151
NM_000059.4(BRCA2):c.7856G>A (p.Trp2619Ter) SNV
Germline		 Chr13:32362573 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided		 Reviewed By Expert Panel
 CA025309 rs_397507941

6 SubmittersRCV000045330RCV000241188RCV001353959RCV001529491
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) SNV
Germline		 Chr13:32362596 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions
not specified
Familial cancer of breast
BRCA2-related cancer predisposition		 Reviewed By Expert Panel
 CA025321 rs_80359014

25 SubmittersRCV000045337RCV000077415RCV000131675RCV000218666RCV000763326RCV001171395RCV001289537RCV004566841
NM_000059.4(BRCA2):c.7886G>A (p.Trp2629Ter) SNV
Germline		 Chr13:32362603 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA025323 rs_80359015

6 SubmittersRCV000113835RCV001382838RCV001682746
NM_000059.4(BRCA2):c.7908T>A (p.Cys2636Ter) SNV
Germline		 Chr13:32362625 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025327 rs_80359016

6 SubmittersRCV000113836RCV000496743
NM_000059.4(BRCA2):c.7915C>G (p.Pro2639Ala) SNV
Germline		 Chr13:32362632 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025334 rs_80359017

7 SubmittersRCV000113838RCV000564997RCV001363807RCV003460614
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly) SNV
Germline		 Chr13:32362645 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA025338 rs_80359018

13 SubmittersRCV000045344RCV000077416RCV000129050RCV001284588RCV002307382RCV003492367
NM_000059.4(BRCA2):c.793+1G>A SNV
Germline		 Chr13:32331031 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025342 rs_81002846

14 SubmittersRCV000045345RCV000112827RCV000239312RCV000568255RCV001310169RCV003473409
NM_000059.4(BRCA2):c.793+1G>T SNV
Germline		 Chr13:32331031 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025343 rs_81002846

5 SubmittersRCV000112828RCV001026969RCV003644873
NM_000059.4(BRCA2):c.7931A>G (p.Asn2644Ser) SNV
Germline		 Chr13:32362648 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025341 rs_80359020

11 SubmittersRCV000077417RCV000162644RCV000501144RCV001325093RCV003159092RCV004566842
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro) SNV
Germline		 Chr13:32362657 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025346 rs_80359021

9 SubmittersRCV000083142RCV000162550RCV000486997RCV001379642RCV004537206
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) SNV
Germline		 Chr13:32362675 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025354 rs_80359022

13 SubmittersRCV000113844RCV000505706RCV000575206RCV000770732RCV001381193RCV001824590RCV003473411
NM_000059.4(BRCA2):c.7961T>C (p.Leu2654Pro) SNV
Germline		 Chr13:32362678 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025355 rs_80359023

5 SubmittersRCV000113845RCV000575154RCV001322453RCV001550363
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) SNV
Germline		 Chr13:32362681 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025358 rs_80359024

14 SubmittersRCV000113846RCV000212265RCV000510118RCV001378206RCV003460615
NM_000059.4(BRCA2):c.7976+12G>A SNV
Germline		 Chr13:32362705 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA025363 rs_81002827

13 SubmittersRCV000045362RCV000129688RCV000195308RCV000113847RCV000293235RCV001353771RCV003492368
NM_000059.4(BRCA2):c.7976+1G>A SNV
Germline/somatic		 Chr13:32362694 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025364 rs_81002873

10 SubmittersRCV000077419RCV000131083RCV000235799RCV001388428
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp) SNV
Germline		 Chr13:32363180 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025377 rs_80359029

6 SubmittersRCV000077420RCV000480484RCV000773273RCV001386986
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys) SNV
Germline		 Chr13:32363189 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025384 rs_80359030

8 SubmittersRCV000077421RCV000163114RCV001324234RCV001354518RCV001811313
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) SNV
Germline		 Chr13:32363190 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
8 conditions
not specified
Familial cancer of breast		 Reviewed By Expert Panel
 CA025385 rs_80359031

24 SubmittersRCV000077422RCV000163034RCV000257984RCV000484277RCV000735605RCV000763327RCV001001328RCV003460616
NM_000059.4(BRCA2):c.79A>G (p.Ile27Val) SNV
Germline		 Chr13:32319088 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA025394 rs_80359034

12 SubmittersRCV000113106RCV000164869RCV000499803RCV001358408RCV001344985RCV003473412RCV003993776
NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter) SNV
Germline		 Chr13:32363204 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA025396 rs_276174900

11 SubmittersRCV000113855RCV000503440RCV000569144RCV000585730RCV000657634RCV001310177
NM_000059.4(BRCA2):c.8009C>A (p.Ser2670Ter) SNV
Germline		 Chr13:32363211 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA025400 rs_80359035

7 SubmittersRCV000239017RCV000496340RCV000569299
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) SNV
Germline		 Chr13:32363211 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast
8 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025401 rs_80359035

18 SubmittersRCV000045385RCV000077423RCV000131082RCV000212267RCV000409052RCV000496611RCV001171451RCV001270290RCV001762153RCV002504936
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu) SNV
Germline		 Chr13:32332278 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA025402 rs_80359036

13 SubmittersRCV000045386RCV000112833RCV000164234RCV000589465RCV001280539RCV003492369
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) SNV
Germline		 Chr13:32363225 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Familial cancer of breast
8 conditions
Gastric cancer
BRCA2-related cancer predisposition		 Reviewed By Expert Panel
 CA025410 rs_397507954

16 SubmittersRCV000045390RCV000132001RCV000258421RCV001550183RCV002272041RCV002483046RCV003162386RCV004566845
NM_000059.4(BRCA2):c.8032A>G (p.Arg2678Gly) SNV
Germline		 Chr13:32363234 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025414 rs_80359039

8 SubmittersRCV000045394RCV000077424RCV000496893RCV000572606RCV001588866RCV004566846
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly) SNV
Germline		 Chr13:32363238 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025417 rs_80359041

12 SubmittersRCV000045397RCV000113859RCV000131797RCV000484310RCV000759667
NM_000059.4(BRCA2):c.8039A>G (p.Asp2680Gly) SNV
Germline		 Chr13:32363241 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA025418 rs_80359042

6 SubmittersRCV000113860RCV001317869RCV001818220RCV002408544
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro) SNV
Germline		 Chr13:32363259 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025427 rs_28897746

8 SubmittersRCV000113861RCV000568548RCV000479056RCV001264563
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe) SNV
Germline		 Chr13:32363261 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025429 rs_80359044

5 SubmittersRCV000113863RCV000212269RCV000571107RCV001346741RCV004528252
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) SNV
Germline		 Chr13:32363269 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA025435 rs_80359046

17 SubmittersRCV000113864RCV000416520RCV000571445RCV000657589RCV003473414
NM_000059.4(BRCA2):c.8084C>T (p.Ser2695Leu) SNV
Germline		 Chr13:32363286 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA025444 rs_80359048

9 SubmittersRCV000113869RCV000509622RCV001371246RCV001703948RCV002307383
NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter) SNV
Germline		 Chr13:32363289 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA025447 rs_80359050

7 SubmittersRCV000113870RCV000585696RCV002274907RCV002514211RCV003343621
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) SNV
Germline		 Chr13:32363292 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025449 rs_80359051

18 SubmittersRCV000045420RCV000083143RCV000129422RCV000203629RCV001081007RCV001798239RCV001762154
NM_000059.4(BRCA2):c.8098A>C (p.Ile2700Leu) SNV
Germline		 Chr13:32363300 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025452 rs_80359053

11 SubmittersRCV000077427RCV000130878RCV000195382RCV000588136
NM_000059.4(BRCA2):c.809C>G (p.Ser270Ter) SNV
Germline		 Chr13:32332287 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025454 rs_276174902

6 SubmittersRCV000112846RCV001027170RCV001390076
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe) SNV
Germline		 Chr13:32363313 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025457 rs_80359054

14 SubmittersRCV000113873RCV000148440RCV000166944RCV000486644RCV001084853RCV001818221
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn) SNV
Germline		 Chr13:32363336 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA025466 rs_80359056

15 SubmittersRCV000045427RCV000083144RCV000130697RCV000218294RCV003993777
NM_000059.4(BRCA2):c.8140C>T (p.Gln2714Ter) SNV
Germline/somatic		 Chr13:32363342 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Gastric cancer
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA025469 rs_80359058

6 SubmittersRCV000113875RCV001380788RCV003162388RCV003332102
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His) SNV
Germline		 Chr13:32363364 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025477 rs_80359061

5 SubmittersRCV000113878RCV000223648RCV001290195
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) SNV
Germline		 Chr13:32363369 Pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
8 conditions
Breast and/or ovarian cancer
Malignant tumor of breast
Carcinoma of pancreas
Familial cancer of breast
BRCA2-related disorder		 Reviewed By Expert Panel
 CA025482 rs_41293511

29 SubmittersRCV000045436RCV000074555RCV000077429RCV000131674RCV000763328RCV001170973RCV001353843RCV001391219RCV003473415RCV004537207
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) SNV
Germline		 Chr13:32363370 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition		 Reviewed By Expert Panel
 CA025483 rs_41293513

9 SubmittersRCV000045437RCV000113879RCV000200976RCV000218818RCV004566848
NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val) SNV
Germline		 Chr13:32363373 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025486 rs_80359063

3 SubmittersRCV000113881RCV000560980RCV003644874
NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter) SNV
Germline		 Chr13:32363377 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA025490 rs_397507965

6 SubmittersRCV000577692RCV000661848RCV001310180RCV001382382RCV002426595
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) SNV
Germline		 Chr13:32363379 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025491 rs_80359064

15 SubmittersRCV000045442RCV000077430RCV000130671RCV000212271RCV003473416
NM_000059.4(BRCA2):c.8182G>C (p.Val2728Leu) SNV
Germline		 Chr13:32363384 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA025495 rs_28897749

5 SubmittersRCV000045444RCV000113883RCV000573475
NM_000059.4(BRCA2):c.818C>A (p.Ser273Ter) SNV
Germline		 Chr13:32332296 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025501 rs_80359068

7 SubmittersRCV000219107RCV000239330RCV000657626RCV001387344
NM_000059.4(BRCA2):c.818C>G (p.Ser273Ter) SNV
Germline		 Chr13:32332296 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025502 rs_80359068

5 SubmittersRCV000112854RCV000657761RCV001383011
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) SNV
Germline		 Chr13:32363417 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Malignant tumor of breast
Breast and/or ovarian cancer
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025521 rs_80359069

19 SubmittersRCV000045453RCV000077431RCV000129733RCV000214196RCV001080912RCV001110061RCV001353878RCV003149693RCV004537208
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) SNV
Germline		 Chr13:32363445 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Gastric cancer		 Reviewed By Expert Panel
 CA025535 rs_80359071

24 SubmittersRCV000045460RCV000113895RCV000216216RCV000481847RCV003473417RCV003162390
NM_000059.4(BRCA2):c.8254A>T (p.Ile2752Phe) SNV
Germline		 Chr13:32363456 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025541 rs_80359072

6 SubmittersRCV000045463RCV000113898RCV000130435RCV001582544
NM_000059.4(BRCA2):c.8314G>T (p.Glu2772Ter) SNV
Germline		 Chr13:32363516 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025564 rs_397507975

4 SubmittersRCV000166747RCV000241200RCV001380792
NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr) SNV
Germline		 Chr13:32363526 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related disorder
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025573 rs_80359073

12 SubmittersRCV000045473RCV000113902RCV000130178RCV000213690RCV002222369RCV004537209RCV004566850
NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg) SNV
Germline		 Chr13:32363526 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025574 rs_80359073

12 SubmittersRCV000045474RCV000113903RCV000129803RCV000587216RCV000769702RCV001175342RCV004537210
NM_000059.4(BRCA2):c.8331+1G>T SNV
Germline		 Chr13:32363534 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Single Submitter
 CA025579 rs_81002837

3 SubmittersRCV000113904RCV000496807RCV002433532
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) SNV
Germline		 Chr13:32370421 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast neoplasm
Breast and/or ovarian cancer
Condition: not provided
Familial cancer of breast
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025594 rs_80359076

21 SubmittersRCV000045488RCV000077435RCV000129468RCV000148441RCV000769704RCV001269526RCV003473419RCV004542707
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr) SNV
Germline		 Chr13:32370426 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of prostate
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025598 rs_80359077

13 SubmittersRCV000077436RCV000130784RCV000220216RCV000588037RCV000677863RCV001082678
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys) SNV
Germline		 Chr13:32370429 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA025600 rs_41293517

11 SubmittersRCV000113912RCV000130122RCV000305632RCV000656804RCV001088658RCV001269500
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg) SNV
Germline		 Chr13:32370432 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025602 rs_80359079

5 SubmittersRCV000113915RCV000219719RCV001290197RCV001574924
NM_000059.4(BRCA2):c.8363G>A (p.Trp2788Ter) SNV
Germline/somatic		 Chr13:32370433 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA025603 rs_80359080

9 SubmittersRCV000162060RCV001017605RCV001271063RCV001381657RCV003332103
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser) SNV
Germline		 Chr13:32370433 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025604 rs_80359080

4 SubmittersRCV000113916RCV001017606RCV001290198
NM_000059.4(BRCA2):c.8364G>A (p.Trp2788Ter) SNV
Germline		 Chr13:32370434 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Gastric cancer		 Reviewed By Expert Panel
 CA025605 rs_397507981

14 SubmittersRCV000216791RCV000236926RCV000241319RCV000496647RCV003162391
NM_000059.4(BRCA2):c.8368A>T (p.Thr2790Ser) SNV
Germline		 Chr13:32370438 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA025608 rs_80359081

10 SubmittersRCV000045497RCV000083146RCV000165808RCV000679190RCV003330414
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro) SNV
Germline		 Chr13:32370445 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025612 rs_28897751

5 SubmittersRCV000113921RCV001017646RCV001290199RCV003137581
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) SNV
Germline		 Chr13:32370447 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025613 rs_80359082

18 SubmittersRCV000045499RCV000074556RCV000077437RCV000131353RCV000496849RCV003473420
NM_000059.4(BRCA2):c.8382C>G (p.Phe2794Leu) SNV
Germline		 Chr13:32370452 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025617 rs_80359084

10 SubmittersRCV000113922RCV000130127RCV000766553RCV001326297RCV003460618
NM_000059.4(BRCA2):c.838A>G (p.Lys280Glu) SNV
Germline		 Chr13:32332316 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025621 rs_80359085

7 SubmittersRCV000112857RCV000776393RCV001296381RCV002271390RCV003476932
NM_000059.4(BRCA2):c.8398C>T (p.Pro2800Ser) SNV
Germline		 Chr13:32370468 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025626 rs_80359086

5 SubmittersRCV000113926RCV000773274RCV002267817RCV001857375
NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn) SNV
Germline		 Chr13:32332319 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025634 rs_80359088

12 SubmittersRCV000077438RCV000130406RCV000482899RCV000586972RCV001081452
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) SNV
Germline		 Chr13:32370490 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA025635 rs_55763607

15 SubmittersRCV000045513RCV000083147RCV000130247RCV000212274RCV000588703RCV001353406
NM_000059.4(BRCA2):c.8428A>G (p.Ser2810Gly) SNV
Germline		 Chr13:32370498 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025641 rs_80359089

9 SubmittersRCV000113930RCV000129757RCV000484281RCV000657058RCV001170975RCV001314399
NM_000059.4(BRCA2):c.8432A>G (p.Asp2811Gly) SNV
Germline		 Chr13:32370502 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025642 rs_80359090

8 SubmittersRCV000045516RCV000113931RCV000455611RCV000771458RCV001284112
NM_000059.4(BRCA2):c.8438G>A (p.Gly2813Glu) SNV
Germline		 Chr13:32370508 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA025646 rs_80359092

4 SubmittersRCV000045520RCV000113933RCV000567212
NM_000059.4(BRCA2):c.8452G>A (p.Val2818Ile) SNV
Germline		 Chr13:32370522 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025651 rs_80359094

13 SubmittersRCV000045523RCV000113935RCV000166574RCV000212275RCV001193320RCV003460619
NM_000059.4(BRCA2):c.8462T>C (p.Ile2821Thr) SNV
Germline		 Chr13:32370532 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025654 rs_80359096

5 SubmittersRCV000113938RCV000502475RCV000575289RCV002514212RCV003488364
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val) SNV
Germline		 Chr13:32332325 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA025663 rs_80359097

13 SubmittersRCV000045529RCV000077440RCV000164639RCV001114949RCV001561218RCV003235008
NM_000059.4(BRCA2):c.8485C>T (p.Gln2829Ter) SNV
Germline		 Chr13:32370555 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA025665 rs_80359099

9 SubmittersRCV000113942RCV001383608RCV001525854RCV002271989
NM_000059.4(BRCA2):c.8487+1G>A SNV
Germline		 Chr13:32370558 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA025670 rs_81002798

17 SubmittersRCV000077441RCV000122367RCV000131086RCV000212276RCV000220501RCV003473422
NM_000059.4(BRCA2):c.8487+3A>G SNV
Germline		 Chr13:32370560 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Cerebral palsy
Hearing impairment
Neurodevelopmental delay
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025672 rs_81002806

11 SubmittersRCV000113945RCV000502951RCV000571631RCV000985604RCV001007900RCV001379438RCV002272042RCV003483454
NM_000059.4(BRCA2):c.8487+4T>C SNV
Germline		 Chr13:32370561 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA025674 rs_81002801

5 SubmittersRCV000113947RCV000434390RCV000589603RCV001300602RCV002444502
NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter) SNV
Germline		 Chr13:32370957 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA025679 rs_80359101

12 SubmittersRCV000077442RCV000222775RCV000484831RCV000569959RCV003473423
NM_000059.4(BRCA2):c.8504C>A (p.Ser2835Ter) SNV
Germline		 Chr13:32370972 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA025685 rs_80359102

9 SubmittersRCV000113951RCV000509923RCV000779936RCV000985605
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) SNV
Germline		 Chr13:32370992 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025691 rs_80359104

15 SubmittersRCV000045544RCV000077443RCV000165225RCV000212277RCV000656805RCV003473424
NM_000059.4(BRCA2):c.8539G>A (p.Glu2847Lys) SNV
Germline		 Chr13:32371007 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025700 rs_80359108

10 SubmittersRCV000045551RCV000113958RCV000479458RCV000564844RCV000767049RCV004566851
NM_000059.4(BRCA2):c.8545A>G (p.Lys2849Glu) SNV
Germline		 Chr13:32371013 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025703 rs_80359109

9 SubmittersRCV000045552RCV000077445RCV000162806RCV000508013RCV000827098
NM_000059.4(BRCA2):c.856T>C (p.Ser286Pro) SNV
Germline		 Chr13:32332334 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025714 rs_80359111

13 SubmittersRCV000045559RCV000077446RCV000163478RCV000589428RCV001083702
NM_000059.4(BRCA2):c.8572C>A (p.Gln2858Lys) SNV
Germline		 Chr13:32371040 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025715 rs_80359112

10 SubmittersRCV000045560RCV000113961RCV000166603RCV000212278RCV000766652RCV004566852
NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter) SNV
Germline		 Chr13:32371040 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast		 Reviewed By Expert Panel
 CA025716 rs_80359112

8 SubmittersRCV000113962RCV000496700RCV001018029RCV001353467
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg) SNV
Germline		 Chr13:32371041 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA025717 rs_80359114

10 SubmittersRCV000045562RCV000113963RCV000131683RCV000656806RCV001192535RCV001798241
NM_000059.4(BRCA2):c.8575C>T (p.Gln2859Ter) SNV
Germline		 Chr13:32371043 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA025718 rs_80359115

11 SubmittersRCV000045563RCV000113964RCV000483527RCV000509703RCV003473425
NM_000059.4(BRCA2):c.8599A>C (p.Thr2867Pro) SNV
Germline		 Chr13:32371067 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025730 rs_80359119

8 SubmittersRCV000083148RCV000507305RCV000571223RCV001374174RCV004566853
NM_000059.4(BRCA2):c.8629G>T (p.Glu2877Ter) SNV
Germline		 Chr13:32371097 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer		 Reviewed By Expert Panel
 CA025737 rs_80359121

6 SubmittersRCV000113970RCV000218194RCV001390828RCV003162392
NM_000059.4(BRCA2):c.8632+1G>A SNV
Germline/somatic		 Chr13:32371101 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA025740 rs_397507997

7 SubmittersRCV000238926RCV000584092RCV001383610RCV003332104
NM_000059.4(BRCA2):c.8632+2T>G SNV
Germline		 Chr13:32371102 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025743 rs_397507998

3 SubmittersRCV000576919RCV001526913
NM_000059.4(BRCA2):c.8632+6A>G SNV
Germline		 Chr13:32371106 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025744 rs_81002894

5 SubmittersRCV000045580RCV000113973RCV000773275RCV001284452
NM_000059.4(BRCA2):c.8644A>T (p.Lys2882Ter) SNV
Germline		 Chr13:32376681 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025757 rs_397508000

4 SubmittersRCV000577482RCV000661593RCV003343622RCV003529945
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile) SNV
Germline		 Chr13:32376705 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025773 rs_80359127

17 SubmittersRCV000077447RCV000131717RCV000587037RCV001175344RCV001082637RCV003607220
NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter) SNV
Germline		 Chr13:32376717 Pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025778 rs_397508002

7 SubmittersRCV000585644RCV000577659RCV000581796RCV000661884RCV000781156
NM_000059.4(BRCA2):c.8732C>T (p.Ala2911Val) SNV
Germline		 Chr13:32376769 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025797 rs_80359130

5 SubmittersRCV000113990RCV000223485RCV000588455RCV001857377
NM_000059.4(BRCA2):c.8754+1G>A SNV
Germline		 Chr13:32376792 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025803 rs_397508006

9 SubmittersRCV000239149RCV000582129RCV000779998RCV001354347RCV003133124
NM_000059.4(BRCA2):c.8754+3G>C SNV
Germline		 Chr13:32376794 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025805 rs_397508007

12 SubmittersRCV000045614RCV000131319RCV000258465RCV000521379
NM_000059.4(BRCA2):c.8754+4A>G SNV
Germline		 Chr13:32376795 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided		 Reviewed By Expert Panel
 CA025806 rs_81002893

13 SubmittersRCV000077450RCV000501422RCV000565525RCV001353977RCV001800350
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=) SNV
Germline		 Chr13:32376791 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025809 rs_80359803

10 SubmittersRCV000077451RCV000131042RCV000496546RCV000523204
NM_000059.4(BRCA2):c.8770G>T (p.Glu2924Ter) SNV
Germline		 Chr13:32379332 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA025821 rs_80359133

12 SubmittersRCV000045624RCV000083149RCV000583458RCV000759680
NM_000059.4(BRCA2):c.8775G>C (p.Gln2925His) SNV
Germline		 Chr13:32379337 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025824 rs_80359136

10 SubmittersRCV000077452RCV000130540RCV000766542RCV001351341
NM_000059.4(BRCA2):c.8808G>C (p.Leu2936Phe) SNV
Germline		 Chr13:32379370 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA025832 rs_80359138

9 SubmittersRCV000045631RCV000114004RCV000130654RCV001552792RCV001844023
NM_000059.4(BRCA2):c.8821C>T (p.Gln2941Ter) SNV
Germline		 Chr13:32379383 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025837 rs_397508012

4 SubmittersRCV000256787RCV003162393RCV003529949
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) SNV
Germline		 Chr13:32379412 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025850 rs_28897754

31 SubmittersRCV000045642RCV000114008RCV000120366RCV000162603RCV000679194RCV001112820RCV001170977RCV004528254
NM_000059.4(BRCA2):c.8854A>G (p.Met2952Val) SNV
Germline		 Chr13:32379416 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025853 rs_397508016

7 SubmittersRCV000077454RCV000166571RCV000507771RCV001318143
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter) SNV
Germline		 Chr13:32379440 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast		 Reviewed By Expert Panel
 CA025859 rs_80359140

19 SubmittersRCV000045646RCV000077455RCV000162940RCV000223154RCV001310187RCV003473426
NM_000059.4(BRCA2):c.8893G>C (p.Asp2965His) SNV
Germline		 Chr13:32379455 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025862 rs_80359141

8 SubmittersRCV000114012RCV000129723RCV000429093RCV001481867
NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter) SNV
Germline		 Chr13:32379495 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA025877 rs_80359144

10 SubmittersRCV000114016RCV000449077RCV001310188RCV001388609RCV001560201RCV003473427
NM_000059.4(BRCA2):c.8944A>C (p.Lys2982Gln) SNV
Germline		 Chr13:32379506 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025882 rs_80359145

9 SubmittersRCV000045662RCV000114017RCV000708685RCV000985613RCV001818223RCV004566856
NM_000059.4(BRCA2):c.8953+1G>A SNV
Germline		 Chr13:32379516 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025889 rs_81002882

5 SubmittersRCV000258436RCV000481114RCV000772120RCV003529951
NM_000059.4(BRCA2):c.8954-3C>G SNV
Germline		 Chr13:32379747 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025895 rs_81002844

5 SubmittersRCV000114023RCV001018542RCV001366157
NM_000059.4(BRCA2):c.8970G>A (p.Trp2990Ter) SNV
Germline		 Chr13:32379766 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA025904 rs_80359149

7 SubmittersRCV000045675RCV000114026RCV000565595RCV000657750
NM_000059.4(BRCA2):c.8991T>G (p.Tyr2997Ter) SNV
Germline		 Chr13:32379787 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025915 rs_397508028

8 SubmittersRCV000257890RCV000657636RCV000771470RCV001388610
NM_000059.4(BRCA2):c.8999T>A (p.Leu3000Ter) SNV
Germline		 Chr13:32379795 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025918 rs_80359151

3 SubmittersRCV000114029RCV001852963
NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp) SNV
Germline		 Chr13:32379802 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025921 rs_80359153

9 SubmittersRCV000045686RCV000074558RCV000083151RCV000129004RCV000656809
NM_000059.4(BRCA2):c.9018C>A (p.Tyr3006Ter) SNV
Germline		 Chr13:32379814 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025930 rs_80359154

8 SubmittersRCV000114031RCV000131053RCV000587546
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro) SNV
Germline		 Chr13:32379828 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Fanconi anemia
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA025937 rs_80359155

12 SubmittersRCV000045694RCV000077458RCV000130329RCV000377237RCV000505780RCV001175463
NM_000059.4(BRCA2):c.905C>G (p.Thr302Ser) SNV
Germline		 Chr13:32332383 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025951 rs_80359158

9 SubmittersRCV000112862RCV000758970RCV000773257RCV001857379
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu) SNV
Germline		 Chr13:32379872 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025961 rs_80359159

11 SubmittersRCV000045705RCV000114041RCV000129636RCV000520875RCV001171401RCV003460627
NM_000059.4(BRCA2):c.9085G>A (p.Ala3029Thr) SNV
Germline		 Chr13:32379881 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA025965 rs_56179254

13 SubmittersRCV000114043RCV000129046RCV000413118RCV000587355RCV001083149RCV001353636
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val) SNV
Germline		 Chr13:32379882 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
BRCA2-related disorder
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025966 rs_80359162

15 SubmittersRCV000045708RCV000077459RCV000129861RCV000479673RCV000657008RCV003492370RCV004537211RCV004566857
NM_000059.4(BRCA2):c.9100C>T (p.Gln3034Ter) SNV
Germline		 Chr13:32379896 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA025978 rs_80359163

9 SubmittersRCV000114047RCV000220911RCV000496303RCV002371870RCV003473428
NM_000059.4(BRCA2):c.9104A>G (p.Tyr3035Cys) SNV
Germline		 Chr13:32379900 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA025981 rs_80359165

9 SubmittersRCV000045718RCV000203635RCV000222955RCV000114048RCV000759682RCV001354003
NM_000059.4(BRCA2):c.9109C>T (p.Gln3037Ter) SNV
Germline/somatic		 Chr13:32379905 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA025985 rs_397508037

8 SubmittersRCV000083153RCV001270014RCV001358765RCV002371871RCV003332105
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) SNV
Germline		 Chr13:32379912 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA025988 rs_80359167

20 SubmittersRCV000045720RCV000083154RCV000131718RCV000254649RCV000759684RCV001355960
NM_000059.4(BRCA2):c.9117+1G>A SNV
Germline		 Chr13:32379914 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025989 rs_81002802

10 SubmittersRCV000114050RCV000566486RCV000985618RCV001390603RCV003460628
NM_000059.4(BRCA2):c.9118-14T>C SNV
Germline		 Chr13:32379993 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025995 rs_81002815

5 SubmittersRCV000114053RCV000437309RCV000773277RCV001469296
NM_000059.4(BRCA2):c.9118-2A>G SNV
Germline		 Chr13:32380005 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA025996 rs_81002862

16 SubmittersRCV000077460RCV000212285RCV000496786RCV000771399
NM_000059.4(BRCA2):c.913G>A (p.Glu305Lys) SNV
Germline		 Chr13:32332391 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026002 rs_80359169

5 SubmittersRCV000112863RCV000581009RCV001300873
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter) SNV
Germline		 Chr13:32380037 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA026004 rs_80359170

11 SubmittersRCV000083155RCV000221883RCV000771484RCV001383878
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) SNV
Germline		 Chr13:32380043 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
Malignant tumor of breast		 Reviewed By Expert Panel
 CA026006 rs_45580035

33 SubmittersRCV000045732RCV000077461RCV000163027RCV000210144RCV000221843RCV000585715RCV000770736RCV001356308
NM_000059.4(BRCA2):c.9172A>G (p.Ser3058Gly) SNV
Germline		 Chr13:32380061 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026015 rs_80359173

5 SubmittersRCV000045736RCV000114058RCV001018956RCV003390743
NM_000059.4(BRCA2):c.9182T>A (p.Leu3061Ter) SNV
Germline		 Chr13:32380071 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA026019 rs_80359175

11 SubmittersRCV000045739RCV000114061RCV000162941RCV000505856RCV003460629
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn) SNV
Germline		 Chr13:32380079 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026023 rs_80359177

12 SubmittersRCV000077462RCV000130150RCV000440778RCV000590167RCV001083475
NM_000059.4(BRCA2):c.91T>C (p.Trp31Arg) SNV
Germline		 Chr13:32319100 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA026029 rs_80359182

2 SubmittersRCV000113123RCV001378307
NM_000059.4(BRCA2):c.9207T>A (p.Cys3069Ter) SNV
Germline		 Chr13:32380096 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA026033 rs_80359183

5 SubmittersRCV000114065RCV002514215RCV004018939
NM_000059.4(BRCA2):c.9213G>T (p.Glu3071Asp) SNV
Germline		 Chr13:32380102 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026035 rs_80359184

6 SubmittersRCV000114066RCV001019007RCV001309238RCV001719799
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) SNV
Germline		 Chr13:32380107 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
8 conditions
Fanconi anemia complementation group D1		 Criteria Provided
Conflicting Classifications
 CA026037 rs_80359186

10 SubmittersRCV000045750RCV000077464RCV000130237RCV000326170RCV000656811RCV000765143RCV001114168
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) SNV
Germline		 Chr13:32380116 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026040 rs_80359187

9 SubmittersRCV000114069RCV000216816RCV000221088RCV001290187
NM_000059.4(BRCA2):c.9247A>T (p.Lys3083Ter) SNV
Germline		 Chr13:32380136 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA026049 rs_80359190

4 SubmittersRCV000256545RCV001019066RCV001380998
NM_000059.4(BRCA2):c.9249A>T (p.Lys3083Asn) SNV
Germline		 Chr13:32380138 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA026050 rs_80359191

11 SubmittersRCV000045758RCV000114073RCV000131342RCV000212287RCV000759688RCV004566858
NM_000059.4(BRCA2):c.9256+1G>A SNV
Germline		 Chr13:32380146 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026057 rs_81002883

5 SubmittersRCV000114075RCV001019075RCV001381000
NM_000059.4(BRCA2):c.9257-1G>A SNV
Germline		 Chr13:32394688 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026064 rs_81002889

5 SubmittersRCV000164703RCV001376859RCV002472948RCV003229804
NM_000059.4(BRCA2):c.9257-1G>C SNV
Germline		 Chr13:32394688 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026065 rs_81002889

12 SubmittersRCV000045767RCV000083156RCV000131040RCV000212288RCV003473430
NM_000059.4(BRCA2):c.9263C>T (p.Ala3088Val) SNV
Germline		 Chr13:32394695 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA026073 rs_80359193

3 SubmittersRCV000114083RCV001346740RCV002371876
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile) SNV
Germline		 Chr13:32394703 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026076 rs_80359194

13 SubmittersRCV000045772RCV000083157RCV000165867RCV000167774RCV000985621
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) SNV
Germline		 Chr13:32394707 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA026081 rs_80359195

17 SubmittersRCV000077466RCV000131684RCV000424310RCV000586462RCV000735623RCV001084297RCV004537212
NM_000059.4(BRCA2):c.9276T>G (p.Tyr3092Ter) SNV
Germline		 Chr13:32394708 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA026083 rs_80359197

7 SubmittersRCV000114085RCV001381498RCV002371877
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu) SNV
Germline		 Chr13:32394717 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026086 rs_80359198

12 SubmittersRCV000045779RCV000077467RCV000223197RCV000236007RCV003473431
NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter) SNV
Germline		 Chr13:32394718 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA026089 rs_80359199

6 SubmittersRCV000114086RCV001310190RCV001388804RCV002371878
NM_000059.4(BRCA2):c.9291T>A (p.Cys3097Ter) SNV
Germline		 Chr13:32394723 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA026091 rs_397508044

4 SubmittersRCV000577676RCV000661690RCV002514216RCV003476936
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter) SNV
Germline		 Chr13:32319101 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA026096 rs_397508045

10 SubmittersRCV000045785RCV000241373RCV000762913RCV001179124RCV003133125RCV003460630
NM_000059.4(BRCA2):c.9307A>G (p.Ile3103Val) SNV
Germline		 Chr13:32394739 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026099 rs_80359203

7 SubmittersRCV000077468RCV000162720RCV001295985RCV001753460
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter) SNV
Germline		 Chr13:32394749 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast carcinoma		 Reviewed By Expert Panel
 CA026103 rs_80359205

9 SubmittersRCV000114090RCV000496936RCV000585639RCV001019163RCV001646927
NM_000059.4(BRCA2):c.9331G>T (p.Glu3111Ter) SNV
Germline		 Chr13:32394763 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA026106 rs_397508047

8 SubmittersRCV000130826RCV000212289RCV000241167RCV001385101
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg) SNV
Germline		 Chr13:32394776 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA026108 rs_276174923

13 SubmittersRCV000045795RCV000114092RCV000223579RCV000985625RCV001171420
NM_000059.4(BRCA2):c.9356T>G (p.Leu3119Ter) SNV
Germline		 Chr13:32394788 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA026114 rs_80359207

6 SubmittersRCV000114094RCV002371880RCV002513649RCV003473432
NM_000059.4(BRCA2):c.9367A>G (p.Ser3123Gly) SNV
Germline		 Chr13:32394799 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026117 rs_80359208

4 SubmittersRCV000114097RCV000165396RCV000212290RCV001338774
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His) SNV
Germline		 Chr13:32394806 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA026120 rs_80359209

5 SubmittersRCV000114098RCV001290188RCV003584524
NM_000059.4(BRCA2):c.9376C>T (p.Gln3126Ter) SNV
Germline		 Chr13:32394808 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA026122 rs_80359210

8 SubmittersRCV000045805RCV000114100RCV000576119RCV001267994
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) SNV
Germline		 Chr13:32394814 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast neoplasm
Familial cancer of breast
8 conditions
Breast and/or ovarian cancer
BRCA2-related disorder
Gastric cancer		 Reviewed By Expert Panel
 CA026127 rs_80359212

46 SubmittersRCV000045807RCV000077469RCV000131048RCV000160169RCV000240732RCV000474912RCV000763332RCV000735625RCV001849300RCV003162394
NM_000059.4(BRCA2):c.93G>A (p.Trp31Ter) SNV
Germline		 Chr13:32319102 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Reviewed By Expert Panel
 CA026138 rs_80359214

5 SubmittersRCV000045810RCV000256653
NM_000059.4(BRCA2):c.93G>T (p.Trp31Cys) SNV
Germline		 Chr13:32319102 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA026140 rs_80359214

3 SubmittersRCV000045811RCV000113126RCV000565952
NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys) SNV
Germline		 Chr13:32394886 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026162 rs_80359218

12 SubmittersRCV000045822RCV000077471RCV000165404RCV000167823RCV001081057
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala) SNV
Germline		 Chr13:32394890 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA026167 rs_80359220

13 SubmittersRCV000045825RCV000114111RCV000163366RCV000588545RCV001818224
NM_000059.4(BRCA2):c.9477C>A (p.Phe3159Leu) SNV
Germline		 Chr13:32394909 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA026174 rs_80359221

7 SubmittersRCV000045831RCV000114116RCV000221995RCV000985628RCV002281735
NM_000059.4(BRCA2):c.9481A>T (p.Lys3161Ter) SNV
Germline		 Chr13:32394913 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA026175 rs_80359222

8 SubmittersRCV000114117RCV000414553RCV000496504RCV003476939RCV003584525
NM_000059.4(BRCA2):c.9501+1G>A SNV
Germline		 Chr13:32394934 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026182 rs_397508058

6 SubmittersRCV000258387RCV000585647RCV001092812RCV001189741RCV001852966
NM_000059.4(BRCA2):c.9501+4A>G SNV
Germline		 Chr13:32394937 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA026184 rs_81002848

11 SubmittersRCV000045839RCV000114121RCV000129324RCV000441376RCV001284453RCV004542710
NM_000059.4(BRCA2):c.9502-2A>C SNV
Germline		 Chr13:32396896 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026190 rs_81002868

8 SubmittersRCV000114124RCV000131049RCV000507477RCV001387733RCV004566859
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe) SNV
Germline		 Chr13:32396934 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA026202 rs_200598289

12 SubmittersRCV000077472RCV000165783RCV000482475RCV000765145RCV001318855RCV003153338RCV003492371
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) SNV
Germline		 Chr13:32332434 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1		 Criteria Provided
Conflicting Classifications
 CA026215 rs_55939572

15 SubmittersRCV000045856RCV000083161RCV000128972RCV000587951RCV000735630RCV001080083RCV001109313
NM_000059.4(BRCA2):c.9572G>A (p.Trp3191Ter) SNV
Germline		 Chr13:32396968 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA026216 rs_397508063

3 SubmittersRCV000257532RCV000496523
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala) SNV
Germline		 Chr13:32396979 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026222 rs_80359227

11 SubmittersRCV000045861RCV000083162RCV000129471RCV000427171RCV001705703
NM_000059.4(BRCA2):c.961C>T (p.Gln321Ter) SNV
Germline		 Chr13:32332439 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA026238 rs_80359234

11 SubmittersRCV000112867RCV000217571RCV000496598RCV000657627RCV003460634
NM_000059.4(BRCA2):c.9637A>G (p.Asn3213Asp) SNV
Germline		 Chr13:32397033 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026242 rs_80359235

7 SubmittersRCV000045871RCV000114138RCV000129983RCV001778689RCV001852967
NM_000059.4(BRCA2):c.9648+10T>G SNV
Germline		 Chr13:32397054 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA026247 rs_81002835

5 SubmittersRCV000114141RCV000588518RCV001087714RCV003460635
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys) SNV
Germline		 Chr13:32398190 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA026266 rs_80359237

13 SubmittersRCV000045885RCV000114153RCV000165822RCV000369165RCV001175465RCV003473437RCV004537214
NM_000059.4(BRCA2):c.9690A>T (p.Leu3230Phe) SNV
Germline		 Chr13:32398203 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA026269 rs_80359238

8 SubmittersRCV000045886RCV000131275RCV000114154RCV000508027RCV003155054
NM_000059.4(BRCA2):c.9718G>A (p.Val3240Ile) SNV
Germline		 Chr13:32398231 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026279 rs_80359240

8 SubmittersRCV000045890RCV000114156RCV000165570RCV000479353RCV000587392
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg) SNV
Germline		 Chr13:32398283 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA026294 rs_55847618

16 SubmittersRCV000077474RCV000129187RCV000586082RCV001082226RCV001818225RCV004537216
NM_000059.4(BRCA2):c.979A>G (p.Lys327Glu) SNV
Germline		 Chr13:32332457 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA026298 rs_80359242

4 SubmittersRCV000112869RCV001301981RCV002381338
NM_000059.4(BRCA2):c.97G>T (p.Glu33Ter) SNV
Germline		 Chr13:32319106 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA026299 rs_397508065

3 SubmittersRCV000256555RCV002514219
NM_000059.4(BRCA2):c.9838C>T (p.Pro3280Ser) SNV
Germline		 Chr13:32398351 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA026310 rs_55835607

8 SubmittersRCV000045903RCV000077476RCV000487013RCV000509955RCV001193233
NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His) SNV
Germline		 Chr13:32398352 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA026311 rs_80359246

13 SubmittersRCV000045904RCV000077477RCV000130774RCV000430520RCV001703949RCV001798244
NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter) SNV
Germline/somatic		 Chr13:32398396 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Familial cancer of breast		 Reviewed By Expert Panel
 CA026321 rs_80359247

9 SubmittersRCV000112819RCV000238720RCV000496879RCV001184567RCV003332106RCV003473438
NM_000059.4(BRCA2):c.9905G>A (p.Arg3302Lys) SNV
Germline		 Chr13:32398418 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA026326 rs_80359249

12 SubmittersRCV000083164RCV000509696RCV000588627RCV001309231RCV003321492RCV004537217
NM_000059.4(BRCA2):c.9907A>T (p.Ser3303Cys) SNV
Germline		 Chr13:32398420 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026328 rs_276174930

6 SubmittersRCV000112821RCV000167325RCV000454487RCV001302458
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter) SNV
Germline		 Chr13:32398437 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
Familial cancer of breast		 Reviewed By Expert Panel
 CA026332 rs_4987049

16 SubmittersRCV000045914RCV000077479RCV000131045RCV000221171RCV000768644RCV001354074RCV003460638
NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys) SNV
Germline		 Chr13:32398438 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA026334 rs_80359251

13 SubmittersRCV000112824RCV000120378RCV000130750RCV000195387RCV001080047RCV004537218
NM_000059.4(BRCA2):c.992A>T (p.Lys331Ile) SNV
Germline		 Chr13:32332470 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA026336 rs_80359253

6 SubmittersRCV000045918RCV000112870RCV003157318
NM_000059.4(BRCA2):c.9936A>G (p.Ile3312Met) SNV
Germline		 Chr13:32398449 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA026338 rs_80359255

6 SubmittersRCV000112826RCV000165864RCV000781148RCV001364239RCV003149697
NM_000059.4(BRCA2):c.9952A>C (p.Asn3318His) SNV
Germline		 Chr13:32398465 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA026346 rs_80359256

8 SubmittersRCV000083165RCV000165163RCV000438846RCV000985255RCV001363034RCV001535553
NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter) SNV
Germline		 Chr17:43094519 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000683 rs_397508826

7 SubmittersRCV000165859RCV000241023RCV000496572
NM_007294.4(BRCA1):c.1030G>A (p.Ala344Thr) SNV
Germline		 Chr17:43094501 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000694 rs_79727659

8 SubmittersRCV000111530RCV000581734RCV000985363RCV001327254
NM_007294.4(BRCA1):c.1054G>T (p.Glu352Ter) SNV
Germline		 Chr17:43094477 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000702 rs_80357472

10 SubmittersRCV000111532RCV000162843RCV000235441RCV000781023
NM_007294.4(BRCA1):c.1058G>A (p.Trp353Ter) SNV
Germline/somatic		 Chr17:43094473 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA000704 rs_80356908

11 SubmittersRCV000111533RCV000486647RCV000496789RCV003332107RCV003584526
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter) SNV
Germline		 Chr17:43094472 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA000705 rs_80356935

14 SubmittersRCV000047321RCV000111534RCV000496330RCV000519898RCV001186964
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter) SNV
Germline		 Chr17:43094465 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA000711 rs_80357215

16 SubmittersRCV000047325RCV000111538RCV000162844RCV000493346RCV000786906
NM_007294.4(BRCA1):c.1076C>T (p.Pro359Leu) SNV
Germline		 Chr17:43094455 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA000719 rs_397508831

3 SubmittersRCV000577508RCV001306992RCV003157320
NM_007294.4(BRCA1):c.1081T>C (p.Ser361Pro) SNV
Germline		 Chr17:43094450 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000723 rs_80356946

9 SubmittersRCV000047332RCV000111542RCV000216374RCV000779861RCV001357142
NM_007294.4(BRCA1):c.1082C>G (p.Ser361Ter) SNV
Germline		 Chr17:43094449 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000726 rs_397508833

4 SubmittersRCV000256553RCV001017220RCV001386875
NM_007294.4(BRCA1):c.1102G>T (p.Glu368Ter) SNV
Germline		 Chr17:43094429 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000736 rs_80357139

7 SubmittersRCV000111548RCV000448702RCV000496434
NM_007294.4(BRCA1):c.1106A>G (p.Asp369Gly) SNV
Germline		 Chr17:43094425 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000740 rs_80357416

4 SubmittersRCV000111550RCV001009906RCV003644876
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) SNV
Germline		 Chr17:43115750 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA000742 rs_80356880

7 SubmittersRCV000111781RCV000763401RCV001378528RCV002433536
NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg) SNV
Germline		 Chr17:43115750 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000743 rs_80356880

6 SubmittersRCV000077482RCV000164121RCV001389942
NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter) SNV
Germline		 Chr17:43094416 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000745 rs_397508838

6 SubmittersRCV000241007RCV000509759RCV000767397RCV001328427
NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter) SNV
Germline/somatic		 Chr17:43094415 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Neoplasm of ovary		 Reviewed By Expert Panel
 CA000746 rs_80357468

13 SubmittersRCV000111553RCV000131844RCV000235123RCV000496759RCV000785203
NM_007294.4(BRCA1):c.1121C>T (p.Thr374Ile) SNV
Germline		 Chr17:43094410 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000750 rs_80357235

5 SubmittersRCV000111554RCV000575806RCV001358702RCV002514227
NM_007294.4(BRCA1):c.1138C>T (p.Gln380Ter) SNV
Germline		 Chr17:43094393 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA000759 rs_397508840

6 SubmittersRCV000241219RCV001384481RCV001528923RCV004018954
NM_007294.4(BRCA1):c.1141A>T (p.Lys381Ter) SNV
Germline		 Chr17:43094390 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA000760 rs_80357385

7 SubmittersRCV000111561RCV000779890RCV002453357
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser) SNV
Germline		 Chr17:43115745 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000765 rs_80357164

8 SubmittersRCV000111803RCV000509615RCV000759489RCV000781001
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) SNV
Germline		 Chr17:43115745 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA000766 rs_80357164

17 SubmittersRCV000077483RCV000496824RCV000570028RCV000985365RCV001270963
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly) SNV
Germline		 Chr17:43115745 Pathogenic/Likely pathogenic not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000767 rs_80357164

8 SubmittersRCV000496529RCV000258451RCV001836724RCV002267819
NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter) SNV
Germline		 Chr17:43094338 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000785 rs_80357068

5 SubmittersRCV000577455RCV000661305RCV002514228
NM_007294.4(BRCA1):c.1193C>G (p.Ser398Ter) SNV
Germline		 Chr17:43094338 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000786 rs_80357068

5 SubmittersRCV000111564RCV000564671RCV000785205RCV001386123
NM_007294.4(BRCA1):c.1204G>T (p.Glu402Ter) SNV
Germline		 Chr17:43094327 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA000794 rs_273897655

9 SubmittersRCV000111565RCV001381519RCV001689606RCV002345340
NM_007294.4(BRCA1):c.1214C>A (p.Ser405Ter) SNV
Germline/somatic		 Chr17:43094317 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Neoplasm of ovary
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000796 rs_80357481

4 SubmittersRCV000111568RCV000785360RCV003644877
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) SNV
Germline		 Chr17:43115738 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA000805 rs_80357276

11 SubmittersRCV000047383RCV000111820RCV000484980RCV000569789
NM_007294.4(BRCA1):c.1231G>A (p.Asp411Asn) SNV
Germline		 Chr17:43094300 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000807 rs_80357301

4 SubmittersRCV000111569RCV000223347RCV001342656
NM_007294.4(BRCA1):c.124A>G (p.Ile42Val) SNV
Germline		 Chr17:43115736 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000820 rs_80357163

10 SubmittersRCV000083167RCV000775195RCV001175357RCV001398773RCV003476945
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser) SNV
Germline		 Chr17:43094281 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000822 rs_80357113

11 SubmittersRCV000047392RCV000083168RCV000166228RCV001719800
NM_007294.4(BRCA1):c.1251T>G (p.Asn417Lys) SNV
Germline		 Chr17:43094280 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000824 rs_80357197

5 SubmittersRCV000111572RCV000509847RCV001338859
NM_007294.4(BRCA1):c.1252G>T (p.Glu418Ter) SNV
Germline		 Chr17:43094279 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000825 rs_80357083

7 SubmittersRCV000111573RCV000566344RCV001852985
NM_007294.4(BRCA1):c.1258G>T (p.Asp420Tyr) SNV
Germline		 Chr17:43094273 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA000830 rs_80357488

9 SubmittersRCV000047396RCV000111575RCV000222994RCV001284387RCV002509191
NM_007294.4(BRCA1):c.1262A>G (p.Glu421Gly) SNV
Germline		 Chr17:43094269 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA000833 rs_397508849

3 SubmittersRCV000577342RCV001351580RCV003157325
NM_007294.4(BRCA1):c.1266T>G (p.Tyr422Ter) SNV
Germline		 Chr17:43094265 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000836 rs_80357417

6 SubmittersRCV000111578RCV000568841RCV001857387
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) SNV
Germline		 Chr17:43115730 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000854 rs_80357327

16 SubmittersRCV000111838RCV000222092RCV000444956RCV000589017
NM_007294.4(BRCA1):c.130T>C (p.Cys44Arg) SNV
Germline		 Chr17:43115730 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA000855 rs_80357327

3 SubmittersRCV000577049RCV001077010RCV001385108
NM_007294.4(BRCA1):c.1310A>C (p.His437Pro) SNV
Germline		 Chr17:43094221 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000857 rs_80357255

4 SubmittersRCV000111586RCV000509714RCV001341132
NM_007294.4(BRCA1):c.1319T>C (p.Leu440Ser) SNV
Germline		 Chr17:43094212 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA000860 rs_273897656

4 SubmittersRCV000111587RCV001361576RCV002381347
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr) SNV
Germline		 Chr17:43115729 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000861 rs_80357446

11 SubmittersRCV000077486RCV000235119RCV000509871RCV001386839
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) SNV
Germline		 Chr17:43115729 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S		 Reviewed By Expert Panel
 CA000862 rs_80357446

24 SubmittersRCV000077487RCV000166901RCV000434130RCV000496386RCV000735465RCV000763011
NM_007294.4(BRCA1):c.1326T>A (p.Cys442Ter) SNV
Germline		 Chr17:43094205 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000865 rs_397508854

7 SubmittersRCV000256823RCV000481208RCV000570951RCV000586087
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln) SNV
Germline		 Chr17:43094198 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA000868 rs_80356915

12 SubmittersRCV000111589RCV000129529RCV000347705RCV000709488RCV001192442
NM_007294.4(BRCA1):c.1333G>T (p.Glu445Ter) SNV
Germline		 Chr17:43094198 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA000870 rs_80356915

5 SubmittersRCV000111590RCV000496878RCV001192080
NM_007294.4(BRCA1):c.134+3A>C SNV
Germline		 Chr17:43115723 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000885 rs_80358064

9 SubmittersRCV000111851RCV001185213RCV001389662RCV001725960
NM_007294.4(BRCA1):c.135-1G>C SNV
Germline		 Chr17:43106534 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000894 rs_80358158

7 SubmittersRCV000047434RCV000111858RCV000571550RCV001725961
NM_007294.4(BRCA1):c.1352C>G (p.Ser451Ter) SNV
Germline		 Chr17:43094179 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000899 rs_80356891

3 SubmittersRCV000111594RCV001852986
NM_007294.4(BRCA1):c.1361G>A (p.Ser454Asn) SNV
Germline		 Chr17:43094170 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA000909 rs_80357181

9 SubmittersRCV000047441RCV000111596RCV000510012RCV000985367RCV003323378
NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr) SNV
Germline		 Chr17:43094164 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA000911 rs_80357360

8 SubmittersRCV000047443RCV000111597RCV000130503RCV000383569RCV002281741
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu) SNV
Germline		 Chr17:43094150 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4		 Criteria Provided
Conflicting Classifications
 CA000918 rs_62625300

12 SubmittersRCV000047448RCV000111599RCV000148411RCV000215677RCV000679681RCV000764125
NM_007294.4(BRCA1):c.1384G>A (p.Gly462Arg) SNV
Germline		 Chr17:43094147 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
not specified
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA000922 rs_80357221

13 SubmittersRCV000047451RCV000077488RCV000129965RCV000148410RCV000289723RCV001532904RCV004554648
NM_007294.4(BRCA1):c.1391C>T (p.Thr464Ile) SNV
Germline		 Chr17:43094140 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000932 rs_62625301

6 SubmittersRCV000111605RCV000164838RCV001308704
NM_007294.4(BRCA1):c.1396C>G (p.Arg466Gly) SNV
Germline		 Chr17:43094135 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA000938 rs_80356964

12 SubmittersRCV000111607RCV000509950RCV000586875RCV001339849RCV003492376
NM_007294.4(BRCA1):c.139T>G (p.Cys47Gly) SNV
Germline		 Chr17:43106529 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA000943 rs_80357370

3 SubmittersRCV000111868RCV000590262
NM_007294.4(BRCA1):c.1406C>G (p.Ala469Gly) SNV
Germline		 Chr17:43094125 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA000950 rs_80357073

4 SubmittersRCV000111611RCV001301251RCV002390196
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr) SNV
Germline		 Chr17:43106528 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA000951 rs_80357150

10 SubmittersRCV000258496RCV000590698RCV000775194RCV001729371
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) SNV
Germline		 Chr17:43106528 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000952 rs_80357150

14 SubmittersRCV000111876RCV000781002RCV000775193RCV003493427RCV002250525
NM_007294.4(BRCA1):c.1421T>G (p.Leu474Ter) SNV
Germline		 Chr17:43094110 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000958 rs_80357490

8 SubmittersRCV000111615RCV000561528RCV000985368RCV001384925
NM_007294.4(BRCA1):c.1448T>C (p.Ile483Thr) SNV
Germline		 Chr17:43094083 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA000970 rs_80357489

8 SubmittersRCV000047479RCV000083170RCV000478226RCV000575874
NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter) SNV
Germline		 Chr17:43094081 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA000973 rs_80357304

12 SubmittersRCV000111620RCV000496826RCV001284535RCV002258786
NM_007294.4(BRCA1):c.1465G>A (p.Glu489Lys) SNV
Germline		 Chr17:43094066 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA000983 rs_80357167

3 SubmittersRCV000111625RCV001315065RCV003157328
NM_007294.4(BRCA1):c.1465G>T (p.Glu489Ter) SNV
Germline		 Chr17:43094066 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Breast neoplasm
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000984 rs_80357167

5 SubmittersRCV000256732RCV000519520RCV000677813RCV001386706
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter) SNV
Germline		 Chr17:43094060 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast		 Reviewed By Expert Panel
 CA000988 rs_62625303

13 SubmittersRCV000111626RCV000131842RCV000496566RCV000657622RCV001353507
NM_007294.4(BRCA1):c.1472A>G (p.Gln491Arg) SNV
Germline		 Chr17:43094059 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000989 rs_80357376

3 SubmittersRCV000111627RCV003157329RCV002514229
NM_007294.4(BRCA1):c.1486C>A (p.Arg496Ser) SNV
Germline		 Chr17:43094045 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA000995 rs_28897676

4 SubmittersRCV000111628RCV001364594RCV002390197
NM_007294.4(BRCA1):c.1508A>G (p.Lys503Arg) SNV
Germline		 Chr17:43094023 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001011 rs_62625304

9 SubmittersRCV000047502RCV000111633RCV000132145RCV000195388RCV000780972
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys) SNV
Germline		 Chr17:43094021 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA001015 rs_80357445

13 SubmittersRCV000047505RCV000111635RCV000129280RCV000207331RCV000237007RCV000588157RCV001354022
NM_007294.4(BRCA1):c.1513A>T (p.Lys505Ter) SNV
Germline		 Chr17:43094018 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001022 rs_397508877

6 SubmittersRCV000257326RCV000574347RCV001389314
NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter) SNV
Germline		 Chr17:43094002 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA001030 rs_80357427

12 SubmittersRCV000111643RCV000583519RCV001384914RCV001701732
NM_007294.4(BRCA1):c.1544A>G (p.Glu515Gly) SNV
Germline		 Chr17:43093987 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001036 rs_397508881

3 SubmittersRCV000577523RCV003157330RCV001348060
NM_007294.4(BRCA1):c.1555A>C (p.Lys519Gln) SNV
Germline		 Chr17:43093976 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001041 rs_397508882

8 SubmittersRCV000480207RCV000775177RCV001194434RCV001301720
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr) SNV
Germline		 Chr17:43093970 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001046 rs_80357122

14 SubmittersRCV000111646RCV000120288RCV000130445RCV000195389RCV000586560
NM_007294.4(BRCA1):c.1568T>G (p.Leu523Trp) SNV
Germline		 Chr17:43093963 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001049 rs_397508885

7 SubmittersRCV000047527RCV000129756RCV001753466RCV003335081
NM_007294.4(BRCA1):c.1571C>T (p.Ala524Val) SNV
Germline		 Chr17:43093960 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001052 rs_80357333

12 SubmittersRCV000047529RCV000111648RCV000167144RCV000587950
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) SNV
Germline		 Chr17:43093958 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA001053 rs_80357273

13 SubmittersRCV000047530RCV000077491RCV000214482RCV000417626RCV000985370RCV002272044RCV003492377
NM_007294.4(BRCA1):c.1576C>T (p.Gln526Ter) SNV
Germline		 Chr17:43093955 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001054 rs_80356984

6 SubmittersRCV000111649RCV000131839RCV002514231
NM_007294.4(BRCA1):c.1581G>C (p.Lys527Asn) SNV
Germline		 Chr17:43093950 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001056 rs_80357493

6 SubmittersRCV000111650RCV000132496RCV001313648RCV003476946
NM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter) SNV
Germline		 Chr17:43093931 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA001062 rs_142074233

11 SubmittersRCV000236467RCV000238846RCV000781028RCV001270966RCV002399410
NM_007294.4(BRCA1):c.1601A>G (p.Gln534Arg) SNV
Germline		 Chr17:43093930 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001064 rs_80357173

7 SubmittersRCV000111652RCV000572214RCV000709486
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter) SNV
Germline		 Chr17:43093919 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA001073 rs_80356893

13 SubmittersRCV000077492RCV000496261RCV000507406RCV000569665RCV000585637
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter) SNV
Germline		 Chr17:43093910 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Neoplasm of ovary
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA001079 rs_80356904

17 SubmittersRCV000077493RCV000496549RCV000507893RCV000785206RCV001012442
NM_007294.4(BRCA1):c.1630C>T (p.Gln544Ter) SNV
Germline		 Chr17:43093901 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA001081 rs_80356952

8 SubmittersRCV000111656RCV000496741RCV000581056
NM_007294.4(BRCA1):c.1642A>G (p.Ile548Val) SNV
Germline		 Chr17:43093889 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA001087 rs_80356981

7 SubmittersRCV000111659RCV001349061RCV001526173RCV001811334RCV002250526
NM_007294.4(BRCA1):c.1669A>G (p.Thr557Ala) SNV
Germline		 Chr17:43093862 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001099 rs_397508895

3 SubmittersRCV000577066RCV002514233RCV003157333
NM_007294.4(BRCA1):c.1676G>T (p.Gly559Val) SNV
Germline		 Chr17:43093855 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001104 rs_80356980

3 SubmittersRCV000111662RCV001852987RCV003157334
NM_007294.4(BRCA1):c.1703C>G (p.Pro568Arg) SNV
Germline		 Chr17:43093828 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001116 rs_80356910

7 SubmittersRCV000111667RCV000129818RCV000479365RCV001364082
NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr) SNV
Germline		 Chr17:43093819 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA001121 rs_80357159

13 SubmittersRCV000047565RCV000111668RCV000129336RCV000173829RCV000679683RCV003492378
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys) SNV
Germline		 Chr17:43093808 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S		 Criteria Provided
Conflicting Classifications
 CA001127 rs_397508902

11 SubmittersRCV000166298RCV000167785RCV000656786RCV000662632RCV002483062
NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter) SNV
Germline		 Chr17:43093802 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA001133 rs_397508903

8 SubmittersRCV000257813RCV000496331RCV000579407
NM_007294.4(BRCA1):c.172C>G (p.Pro58Ala) SNV
Germline		 Chr17:43106496 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001136 rs_397508904

6 SubmittersRCV000481979RCV000575682RCV001077107RCV001314278RCV002509192
NM_007294.4(BRCA1):c.1733C>A (p.Ser578Tyr) SNV
Germline		 Chr17:43093798 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001138 rs_80356939

5 SubmittersRCV000111672RCV000567663RCV001302954
NM_007294.4(BRCA1):c.1747A>T (p.Lys583Ter) SNV
Germline		 Chr17:43093784 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001145 rs_80356928

4 SubmittersRCV000111673RCV001381520
NM_007294.4(BRCA1):c.1756C>T (p.Pro586Ser) SNV
Germline		 Chr17:43093775 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001146 rs_80357153

4 SubmittersRCV000111674RCV001013043RCV001321828
NM_007294.4(BRCA1):c.1768A>G (p.Ser590Gly) SNV
Germline		 Chr17:43093763 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001151 rs_80357454

6 SubmittersRCV000111676RCV001013084RCV001369646
NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr) SNV
Germline		 Chr17:43093759 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001154 rs_80356859

11 SubmittersRCV000083172RCV000220799RCV000438467RCV001415715RCV002262608
NM_007294.4(BRCA1):c.1786C>G (p.Leu596Val) SNV
Germline		 Chr17:43093745 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001158 rs_80357371

7 SubmittersRCV000111683RCV001013178RCV001368144RCV002265583
NM_007294.4(BRCA1):c.1789G>T (p.Glu597Ter) SNV
Germline		 Chr17:43093742 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA001161 rs_55650082

9 SubmittersRCV000111684RCV000496902RCV002399412RCV003137587
NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter) SNV
Germline		 Chr17:43106490 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA001162 rs_80357471

11 SubmittersRCV000077496RCV000505825RCV000496952RCV002399413
NM_007294.4(BRCA1):c.1793T>A (p.Leu598Ter) SNV
Germline		 Chr17:43093738 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA001163 rs_80357118

10 SubmittersRCV000047587RCV000111686RCV000219724RCV003236773
NM_007294.4(BRCA1):c.1793T>G (p.Leu598Ter) SNV
Germline		 Chr17:43093738 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001164 rs_80357118

8 SubmittersRCV000111687RCV000162846RCV001852988
NM_007294.4(BRCA1):c.1808C>G (p.Ser603Ter) SNV
Germline		 Chr17:43093723 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001174 rs_397508909

4 SubmittersRCV000256524RCV002408551RCV003529953
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg) SNV
Germline		 Chr17:43106487 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001181 rs_28897672

7 SubmittersRCV000111959RCV000759499RCV001328445
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr) SNV
Germline		 Chr17:43106486 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001191 rs_80357093

12 SubmittersRCV000077497RCV000235674RCV000496241RCV000775191
NM_007294.4(BRCA1):c.1840A>T (p.Lys614Ter) SNV
Germline		 Chr17:43093691 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001199 rs_80357282

6 SubmittersRCV000111698RCV000496629
NM_007294.4(BRCA1):c.1868T>C (p.Leu623Pro) SNV
Germline		 Chr17:43093663 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001214 rs_397508915

5 SubmittersRCV000486928RCV000709485RCV002408552
NM_007294.4(BRCA1):c.1870G>A (p.Glu624Lys) SNV
Germline		 Chr17:43093661 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001215 rs_80356950

3 SubmittersRCV000111702RCV001308727RCV003157338
NM_007294.4(BRCA1):c.1879G>A (p.Val627Ile) SNV
Germline		 Chr17:43093652 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA001220 rs_80357425

8 SubmittersRCV000047616RCV000111712RCV000130566RCV000344730RCV002267820
NM_007294.4(BRCA1):c.1881C>G (p.Val627=) SNV
Germline		 Chr17:43093650 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001223 rs_80356838

16 SubmittersRCV000111719RCV000165591RCV000212164RCV000586671RCV001408201
NM_007294.4(BRCA1):c.1884T>G (p.Ser628Arg) SNV
Germline		 Chr17:43093647 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001226 rs_80357495

8 SubmittersRCV000111720RCV000131931RCV001337980
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) SNV
Germline		 Chr17:43106480 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
Gastric cancer		 Reviewed By Expert Panel
 CA001227 rs_80357086

22 SubmittersRCV000047620RCV000077499RCV000162847RCV000413802RCV000478996RCV003162400
NM_007294.4(BRCA1):c.1895G>A (p.Ser632Asn) SNV
Germline		 Chr17:43093636 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA001235 rs_80356983

10 SubmittersRCV000047624RCV000111724RCV000221118RCV001588879RCV004525866RCV004554652
NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser) SNV
Germline		 Chr17:43093634 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA001237 rs_80356902

13 SubmittersRCV000077500RCV000510032RCV000656639RCV001085614RCV004554653
NM_007294.4(BRCA1):c.189A>T (p.Leu63Phe) SNV
Germline		 Chr17:43106479 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001240 rs_80356956

11 SubmittersRCV000047628RCV000111972RCV000485649RCV000567313RCV000590194
NM_007294.4(BRCA1):c.1900C>T (p.Pro634Ser) SNV
Germline		 Chr17:43093631 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001241 rs_80357056

4 SubmittersRCV000111728RCV001187831RCV001857388
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) SNV
Germline		 Chr17:43106478 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001249 rs_80357064

16 SubmittersRCV000083174RCV000130787RCV000496744RCV001284284RCV001195433RCV002247441RCV003162401
NM_007294.4(BRCA1):c.1916T>A (p.Leu639Ter) SNV
Germline		 Chr17:43093615 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001259 rs_80357267

10 SubmittersRCV000083175RCV000131894RCV000212165RCV000496730
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) SNV
Germline		 Chr17:43106477 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 4
BRCA1-related cancer predisposition		 Reviewed By Expert Panel
 CA001262 rs_55851803

26 SubmittersRCV000047641RCV000077501RCV000131896RCV000236464RCV003334380RCV004566890
NM_007294.4(BRCA1):c.1934C>A (p.Ser645Tyr) SNV
Germline		 Chr17:43093597 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001280 rs_80357129

8 SubmittersRCV000047645RCV000111735RCV000129530RCV000496441RCV001731343
NM_007294.4(BRCA1):c.1945G>C (p.Glu649Gln) SNV
Germline		 Chr17:43093586 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001285 rs_80356907

8 SubmittersRCV000047648RCV000111736RCV000563837RCV001723637
NM_007294.4(BRCA1):c.1967A>G (p.Asn656Ser) SNV
Germline		 Chr17:43093564 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001313 rs_397508925

5 SubmittersRCV000576937RCV000584436RCV001306991
NM_007294.4(BRCA1):c.1969C>T (p.Gln657Ter) SNV
Germline		 Chr17:43093562 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Ovarian carcinoma		 Reviewed By Expert Panel
 CA001314 rs_397508926

8 SubmittersRCV000256717RCV000657568RCV000779889RCV001650885
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) SNV
Germline		 Chr17:43093557 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA001318 rs_55678461

15 SubmittersRCV000047669RCV000111744RCV000130602RCV000590433RCV001082658RCV004554654
NM_007294.4(BRCA1):c.1984C>T (p.His662Tyr) SNV
Germline		 Chr17:43093547 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001320 rs_397508927

4 SubmittersRCV000129437RCV001302938RCV002222372
NM_007294.4(BRCA1):c.1985A>G (p.His662Arg) SNV
Germline		 Chr17:43093546 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001321 rs_80357494

3 SubmittersRCV000111745RCV002513654RCV003157345
NM_007294.4(BRCA1):c.1999C>T (p.Gln667Ter) SNV
Germline		 Chr17:43093532 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001326 rs_80356889

7 SubmittersRCV000111748RCV000162848RCV000236983RCV001000822RCV001388632
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) SNV
Germline		 Chr17:43124096 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001332 rs_80357287

22 SubmittersRCV000077503RCV000131905RCV000212153RCV000412727RCV000496638RCV001270347RCV002250529
NM_007294.4(BRCA1):c.2008G>A (p.Glu670Lys) SNV
Germline		 Chr17:43093523 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001338 rs_80357029

8 SubmittersRCV000047680RCV000111749RCV000132211RCV001192476RCV002477164
NM_007294.4(BRCA1):c.2014A>T (p.Lys672Ter) SNV
Germline		 Chr17:43093517 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001343 rs_397508929

9 SubmittersRCV000241129RCV000580324RCV001811335RCV003529956
NM_007294.4(BRCA1):c.2017G>T (p.Glu673Ter) SNV
Germline		 Chr17:43093514 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001345 rs_80357391

11 SubmittersRCV000111751RCV000131903RCV000212166RCV001387510
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter) SNV
Germline		 Chr17:43093496 Pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA001353 rs_80357082

23 SubmittersRCV000047689RCV000074569RCV000077505RCV000131904RCV000735497
NM_007294.4(BRCA1):c.203T>G (p.Ile68Arg) SNV
Germline		 Chr17:43106465 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001357 rs_80357116

5 SubmittersRCV000112002RCV000590778RCV001315867
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser) SNV
Germline		 Chr17:43093481 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001361 rs_397508934

11 SubmittersRCV000047694RCV000130395RCV000485811RCV000586501RCV000764123RCV000768616RCV003996476
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter) SNV
Germline		 Chr17:43093472 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001363 rs_273898674

11 SubmittersRCV000111755RCV000216253RCV000240699RCV001354843RCV001857389
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn) SNV
Germline		 Chr17:43093448 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Breast neoplasm
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA001383 rs_28897681

14 SubmittersRCV000111765RCV000130220RCV000440541RCV000677807RCV000985379RCV001324951RCV004554655
NM_007294.4(BRCA1):c.2086A>G (p.Thr696Ala) SNV
Germline		 Chr17:43093445 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001385 rs_80357441

5 SubmittersRCV000047707RCV000111767RCV000562283RCV003319315
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter) SNV
Germline		 Chr17:43093426 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA001394 rs_80357298

7 SubmittersRCV000111771RCV001383911RCV003352759RCV003476947
NM_007294.4(BRCA1):c.212+1G>C SNV
Germline		 Chr17:43106455 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001406 rs_80358042

6 SubmittersRCV000112018RCV000496773
NM_007294.4(BRCA1):c.212+1G>T SNV
Germline/somatic		 Chr17:43106455 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast		 Reviewed By Expert Panel
 CA001407 rs_80358042

14 SubmittersRCV000047717RCV000112019RCV000218717RCV000478644RCV001353644
NM_007294.4(BRCA1):c.212+3A>G SNV
Germline		 Chr17:43106453 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Condition: not provided
Familial cancer of breast
BRCA1-related cancer predisposition		 Reviewed By Expert Panel
 CA001412 rs_80358083

17 SubmittersRCV000083178RCV000496318RCV000506191RCV000509906RCV000735529RCV001355367RCV001528962RCV002250530RCV004566891
NM_007294.4(BRCA1):c.2120G>A (p.Gly707Asp) SNV
Germline		 Chr17:43093411 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001399 rs_80357192

6 SubmittersRCV000111774RCV000213201RCV001351015
NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys) SNV
Germline		 Chr17:43106456 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001420 rs_80356913

10 SubmittersRCV000112023RCV000503702RCV001180531RCV001384425
NM_007294.4(BRCA1):c.213-1G>A SNV
Germline/somatic		 Chr17:43104957 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001430 rs_80358146

6 SubmittersRCV000112026RCV000240764RCV001385288RCV002415504
NM_007294.4(BRCA1):c.2158G>A (p.Glu720Lys) SNV
Germline/somatic		 Chr17:43093373 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001444 rs_80356875

5 SubmittersRCV000077506RCV000164061RCV001318153
NM_007294.4(BRCA1):c.216C>A (p.Ser72Arg) SNV
Germline		 Chr17:43104953 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001449 rs_80356967

7 SubmittersRCV000077507RCV001312408RCV002426600
NM_007294.4(BRCA1):c.2183G>A (p.Arg728Lys) SNV
Germline		 Chr17:43093348 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA001458 rs_80357335

13 SubmittersRCV000077510RCV000129301RCV000658781RCV001340841RCV001354681RCV001800355
NM_007294.4(BRCA1):c.2188G>T (p.Glu730Ter) SNV
Germline		 Chr17:43093343 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001461 rs_80357058

4 SubmittersRCV000111782RCV001354410RCV002513655
NM_007294.4(BRCA1):c.2194G>T (p.Glu732Ter) SNV
Germline		 Chr17:43093337 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA001465 rs_80357426

11 SubmittersRCV000111786RCV000482657RCV000496814RCV001014735
NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter) SNV
Germline		 Chr17:43093334 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001468 rs_397508949

10 SubmittersRCV000077511RCV000479672RCV000509808RCV001852989
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter) SNV
Germline		 Chr17:43104949 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Ovarian cancer		 Reviewed By Expert Panel
 CA001476 rs_80357234

17 SubmittersRCV000047758RCV000112044RCV000414657RCV000572393RCV000677814
NM_007294.4(BRCA1):c.2215A>T (p.Lys739Ter) SNV
Germline		 Chr17:43093316 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA001484 rs_56329598

10 SubmittersRCV000111795RCV000496377RCV000771559
NM_007294.4(BRCA1):c.2218G>C (p.Val740Leu) SNV
Germline		 Chr17:43093313 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001488 rs_80357415

9 SubmittersRCV000047765RCV000111798RCV000220800RCV001811336
NM_007294.4(BRCA1):c.2222C>G (p.Ser741Cys) SNV
Germline		 Chr17:43093309 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001490 rs_80357051

11 SubmittersRCV000111801RCV000214807RCV000486164RCV000767205RCV001299384
NM_007294.4(BRCA1):c.2222C>T (p.Ser741Phe) SNV
Germline		 Chr17:43093309 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001491 rs_80357051

9 SubmittersRCV000047767RCV000111802RCV000216743RCV001719801
NM_007294.4(BRCA1):c.2245G>T (p.Asp749Tyr) SNV
Germline		 Chr17:43093286 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001504 rs_80357114

6 SubmittersRCV000047772RCV000111807RCV000510045RCV001284287
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter) SNV
Germline		 Chr17:43093268 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
Carcinoma of pancreas		 Reviewed By Expert Panel
 CA001514 rs_41286296

12 SubmittersRCV000111810RCV000496395RCV001092621RCV001270970RCV001356914RCV001391198
NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser) SNV
Germline		 Chr17:43093263 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001515 rs_80356884

10 SubmittersRCV000047778RCV000111812RCV000129867RCV000254635RCV001281712
NM_007294.4(BRCA1):c.2275C>T (p.Gln759Ter) SNV
Germline		 Chr17:43093256 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA001519 rs_80356999

5 SubmittersRCV000111814RCV001380382RCV002444510
NM_007294.4(BRCA1):c.2282A>C (p.Glu761Ala) SNV
Germline		 Chr17:43093249 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001522 rs_80356869

7 SubmittersRCV000111815RCV000584283RCV001368299RCV001762162
NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter) SNV
Germline		 Chr17:43093238 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001525 rs_80357449

10 SubmittersRCV000111818RCV000162853RCV000505829RCV001388815
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) SNV
Germline		 Chr17:43093222 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S		 Reviewed By Expert Panel
 CA001536 rs_80357063

15 SubmittersRCV000047791RCV000077513RCV000222520RCV000445000RCV002496716
NM_007294.4(BRCA1):c.230C>G (p.Thr77Arg) SNV
Germline		 Chr17:43104939 Conflicting classifications of pathogenicity Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001538 rs_80357209

5 SubmittersRCV000576908RCV000662810RCV001852991RCV003362681
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met) SNV
Germline		 Chr17:43104939 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA001539 rs_80357209

15 SubmittersRCV000077514RCV000216581RCV000587004RCV001326176RCV003230384RCV003149702
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) SNV
Germline		 Chr17:43093193 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Neoplasm of ovary
Malignant tumor of breast
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA001563 rs_80356945

31 SubmittersRCV000047805RCV000077515RCV000162854RCV000414114RCV000785402RCV001353849RCV003149703
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) SNV
Germline		 Chr17:43093184 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001565 rs_80356948

12 SubmittersRCV000083181RCV000130405RCV000590349RCV001353824RCV001417426
NM_007294.4(BRCA1):c.2350T>G (p.Ser784Ala) SNV
Germline		 Chr17:43093181 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001567 rs_80357399

5 SubmittersRCV000111830RCV001341133RCV001553706RCV002444511
NM_007294.4(BRCA1):c.2354T>A (p.Leu785Ter) SNV
Germline		 Chr17:43093177 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA001571 rs_397508961

3 SubmittersRCV000047811RCV000257066
NM_007294.4(BRCA1):c.2362G>A (p.Val788Ile) SNV
Germline		 Chr17:43093169 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA001579 rs_80357060

7 SubmittersRCV000111835RCV000131669RCV001314139RCV003607221
NM_007294.4(BRCA1):c.2387C>T (p.Thr796Ile) SNV
Germline		 Chr17:43093144 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA001583 rs_80357364

9 SubmittersRCV000047818RCV000111839RCV000167276RCV000240714RCV000588791RCV001778691
NM_007294.4(BRCA1):c.2397T>A (p.Asn799Lys) SNV
Germline		 Chr17:43093134 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA001594 rs_80357203

10 SubmittersRCV000047824RCV000111842RCV000164929RCV000587218RCV000768615
NM_007294.4(BRCA1):c.2403T>A (p.Cys801Ter) SNV
Germline		 Chr17:43093128 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001597 rs_80357381

6 SubmittersRCV000083183RCV000496719
NM_007294.4(BRCA1):c.2410C>T (p.Gln804Ter) SNV
Germline		 Chr17:43093121 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001603 rs_80356982

5 SubmittersRCV000077516RCV000496431
NM_007294.4(BRCA1):c.2416G>A (p.Ala806Thr) SNV
Germline		 Chr17:43093115 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001610 rs_80357144

10 SubmittersRCV000047832RCV000077517RCV000212167RCV000218307
NM_007294.4(BRCA1):c.2419G>T (p.Ala807Ser) SNV
Germline		 Chr17:43093112 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001612 rs_80357240

5 SubmittersRCV000111854RCV001015485RCV001194351RCV001363802
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter) SNV
Germline		 Chr17:43104928 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided		 Reviewed By Expert Panel
 CA001613 rs_80357350

13 SubmittersRCV000047834RCV000112105RCV000735472RCV000763008RCV001015488RCV001353463RCV003321493
NM_007294.4(BRCA1):c.2420C>A (p.Ala807Glu) SNV
Germline/somatic		 Chr17:43093111 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001614 rs_273899683

4 SubmittersRCV000111855RCV001015490RCV001346971
NM_007294.4(BRCA1):c.2437G>T (p.Gly813Ter) SNV
Germline		 Chr17:43093094 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA001626 rs_80357186

6 SubmittersRCV000111862RCV000496570RCV002453359
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr) SNV
Germline		 Chr17:43093058 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001643 rs_80357328

12 SubmittersRCV000083184RCV000132467RCV000435802RCV000586521RCV001081263
NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp) SNV
Germline		 Chr17:43093050 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001652 rs_397508970

9 SubmittersRCV000077520RCV000216311RCV000590050RCV001345360RCV001818226
NM_007294.4(BRCA1):c.2482G>A (p.Gly828Ser) SNV
Germline		 Chr17:43093049 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001653 rs_80357185

4 SubmittersRCV000111877RCV000131949RCV001324477
NM_007294.4(BRCA1):c.2527A>G (p.Thr843Ala) SNV
Germline		 Chr17:43093004 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA001675 rs_80357435

8 SubmittersRCV000111884RCV000480963RCV001194380RCV001324819RCV002453360RCV003492380
NM_007294.4(BRCA1):c.2534T>C (p.Ile845Thr) SNV
Germline		 Chr17:43092997 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001676 rs_397508976

5 SubmittersRCV000410162RCV000561022RCV001360641
NM_007294.4(BRCA1):c.2541G>A (p.Met847Ile) SNV
Germline		 Chr17:43092990 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001678 rs_80357195

4 SubmittersRCV000111886RCV000590420RCV001320587RCV003157351
NM_007294.4(BRCA1):c.2545G>T (p.Glu849Ter) SNV
Germline		 Chr17:43092986 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001680 rs_80356951

5 SubmittersRCV000111887RCV000131874RCV001382662
NM_007294.4(BRCA1):c.2561C>T (p.Ala854Val) SNV
Germline		 Chr17:43092970 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001688 rs_80357315

5 SubmittersRCV000111889RCV001015939RCV001350271
NM_007294.4(BRCA1):c.2568T>G (p.Tyr856Ter) SNV
Germline		 Chr17:43092963 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001694 rs_80356832

8 SubmittersRCV000111893RCV001181838RCV002222155
NM_007294.4(BRCA1):c.2572C>T (p.Gln858Ter) SNV
Germline		 Chr17:43092959 Pathogenic Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001697 rs_397508983

6 SubmittersRCV000240752RCV000257400RCV001270000RCV002515734
NM_007294.4(BRCA1):c.2590T>G (p.Ser864Ala) SNV
Germline		 Chr17:43092941 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001702 rs_80357285

4 SubmittersRCV000047888RCV000111897RCV000164741
NM_007294.4(BRCA1):c.2591C>G (p.Ser864Ter) SNV
Germline		 Chr17:43092940 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001703 rs_80357003

5 SubmittersRCV000132313RCV000241398RCV000496756
NM_007294.4(BRCA1):c.2591C>T (p.Ser864Leu) SNV
Germline		 Chr17:43092940 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001704 rs_80357003

6 SubmittersRCV000111898RCV000132326RCV001348685
NM_007294.4(BRCA1):c.259T>G (p.Leu87Val) SNV
Germline		 Chr17:43104910 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001710 rs_80357091

8 SubmittersRCV000112151RCV000223406RCV000203628RCV000590264
NM_007294.4(BRCA1):c.2603C>A (p.Ser868Ter) SNV
Germline		 Chr17:43092928 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001713 rs_80356925

3 SubmittersRCV000577690RCV000661097RCV003529960
NM_007294.4(BRCA1):c.2612C>A (p.Pro871Gln) SNV
Germline		 Chr17:43092919 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001718 rs_799917

6 SubmittersRCV000111902RCV001301252RCV002433538RCV003441733
NM_007294.4(BRCA1):c.2632G>A (p.Ala878Thr) SNV
Germline		 Chr17:43092899 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001726 rs_80357230

3 SubmittersRCV000111906RCV001343273RCV003157352
NM_007294.4(BRCA1):c.2641G>T (p.Glu881Ter) SNV
Germline		 Chr17:43092890 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA001732 rs_397508988

10 SubmittersRCV000225552RCV000478682RCV000496821RCV000563817
NM_007294.4(BRCA1):c.2650A>G (p.Thr884Ala) SNV
Germline		 Chr17:43092881 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001736 rs_80357120

4 SubmittersRCV000111908RCV002453361RCV002514238
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) SNV
Germline		 Chr17:43092869 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001742 rs_80357480

16 SubmittersRCV000047914RCV000111910RCV000129905RCV000589310RCV000768614RCV001081135
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg) SNV
Germline		 Chr17:43092863 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA001745 rs_80357200

13 SubmittersRCV000047916RCV000111911RCV000164235RCV000407250RCV000758803RCV001353659RCV003492382
NM_007294.4(BRCA1):c.266T>C (p.Ile89Thr) SNV
Germline		 Chr17:43104903 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA001747 rs_80357097

6 SubmittersRCV000112168RCV000220067RCV001417915RCV002250533
NM_007294.4(BRCA1):c.2677A>C (p.Lys893Gln) SNV
Germline		 Chr17:43092854 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001753 rs_80357170

4 SubmittersRCV000111915RCV001284392RCV001315066RCV003157355
NM_007294.4(BRCA1):c.267C>G (p.Ile89Met) SNV
Germline		 Chr17:43104902 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001760 rs_80356963

6 SubmittersRCV000047926RCV000112171RCV000223325RCV003493428
NM_007294.4(BRCA1):c.2683C>T (p.Gln895Ter) SNV
Germline		 Chr17:43092848 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001764 rs_397508997

4 SubmittersRCV000131537RCV000240966RCV001386304
NM_007294.4(BRCA1):c.2692A>G (p.Lys898Glu) SNV
Germline		 Chr17:43092839 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001775 rs_80357420

5 SubmittersRCV000111920RCV001342449RCV002426606
NM_007294.4(BRCA1):c.2713C>T (p.Gln905Ter) SNV
Germline		 Chr17:43092818 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified		 Reviewed By Expert Panel
 CA001787 rs_397509002

8 SubmittersRCV000047941RCV000225470RCV000484764RCV000506839
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) SNV
Germline		 Chr17:43092809 Pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Breast and/or ovarian cancer
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S		 Reviewed By Expert Panel
 CA001792 rs_80356978

29 SubmittersRCV000047943RCV000074576RCV000077527RCV000131878RCV000148387RCV000735484RCV000763005
NM_007294.4(BRCA1):c.2728C>T (p.Gln910Ter) SNV
Germline		 Chr17:43092803 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001798 rs_397509004

3 SubmittersRCV000577003RCV000661276RCV001386302
NM_007294.4(BRCA1):c.2739T>A (p.Asn913Lys) SNV
Germline		 Chr17:43092792 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001804 rs_273899688

4 SubmittersRCV000047952RCV000111928RCV000217541
NM_007294.4(BRCA1):c.2740G>T (p.Glu914Ter) SNV
Germline		 Chr17:43092791 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA001806 rs_80357419

6 SubmittersRCV000111929RCV000566593RCV001852995RCV002269261
NM_007294.4(BRCA1):c.2752A>C (p.Lys918Gln) SNV
Germline		 Chr17:43092779 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001813 rs_397509010

3 SubmittersRCV000215897RCV002514239
NM_007294.4(BRCA1):c.2759T>C (p.Val920Ala) SNV
Germline		 Chr17:43092772 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001816 rs_80357008

4 SubmittersRCV000111932RCV001347234RCV003157356
NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter) SNV
Germline		 Chr17:43092770 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA001817 rs_80357377

10 SubmittersRCV000111933RCV000221485RCV000496230RCV003148644
NM_007294.4(BRCA1):c.2765C>G (p.Thr922Arg) SNV
Germline		 Chr17:43092766 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA001821 rs_80357460

8 SubmittersRCV000111936RCV000130481RCV001349760RCV003607222
NM_007294.4(BRCA1):c.2782G>A (p.Gly928Ser) SNV
Germline		 Chr17:43092749 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001829 rs_80356995

5 SubmittersRCV000111937RCV001016594RCV001344844
NM_007294.4(BRCA1):c.2789C>T (p.Pro930Leu) SNV
Germline		 Chr17:43092742 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001831 rs_80357256

6 SubmittersRCV000111938RCV000478240RCV001320702RCV002433540
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter) SNV
Germline/somatic		 Chr17:43092731 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Ovarian carcinoma
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA001836 rs_80357223

20 SubmittersRCV000047973RCV000077528RCV000236201RCV000579514RCV001357748RCV001650886RCV003332108
NM_007294.4(BRCA1):c.2818G>T (p.Asp940Tyr) SNV
Germline		 Chr17:43092713 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001846 rs_80357077

4 SubmittersRCV000111945RCV000568463RCV001852997
NM_007294.4(BRCA1):c.2832T>A (p.Cys944Ter) SNV
Germline		 Chr17:43092699 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001848 rs_80357458

5 SubmittersRCV000111946RCV001016723RCV001386301
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter) SNV
Germline		 Chr17:43092667 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001866 rs_80357295

15 SubmittersRCV000077530RCV000131912RCV000255164RCV000496521
NM_007294.4(BRCA1):c.2869C>T (p.Gln957Ter) SNV
Germline		 Chr17:43092662 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA001870 rs_80356973

7 SubmittersRCV000111953RCV000496830RCV001016733
NM_007294.4(BRCA1):c.286G>A (p.Asp96Asn) SNV
Germline		 Chr17:43104883 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001871 rs_80357110

6 SubmittersRCV000112214RCV000562295RCV000586554RCV002514240
NM_007294.4(BRCA1):c.2872T>A (p.Phe958Ile) SNV
Germline		 Chr17:43092659 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001874 rs_80356878

6 SubmittersRCV000111955RCV001349170RCV002433541RCV003476950
NM_007294.4(BRCA1):c.2917C>G (p.Leu973Val) SNV
Germline		 Chr17:43092614 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001903 rs_80357080

6 SubmittersRCV000083191RCV000509848RCV001302190
NM_007294.4(BRCA1):c.2923C>T (p.Gln975Ter) SNV
Germline		 Chr17:43092608 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001911 rs_80357497

8 SubmittersRCV000111967RCV000510090RCV000657620RCV001382049
NM_007294.4(BRCA1):c.2936G>A (p.Arg979His) SNV
Germline		 Chr17:43092595 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA001918 rs_80356985

9 SubmittersRCV000048020RCV000111970RCV000216248RCV000590371RCV002307384
NM_007294.4(BRCA1):c.2963C>A (p.Ser988Ter) SNV
Germline		 Chr17:43092568 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001927 rs_397507206

5 SubmittersRCV000166800RCV000225640RCV000487157RCV002514241
NM_007294.4(BRCA1):c.2998G>A (p.Glu1000Lys) SNV
Germline		 Chr17:43092533 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA001951 rs_80357124

8 SubmittersRCV000048034RCV000111977RCV000131313RCV003226180RCV003159094RCV003607223
NM_007294.4(BRCA1):c.2T>C (p.Met1Thr) SNV
Germline		 Chr17:43124095 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001954 rs_80357111

6 SubmittersRCV000111545RCV001017950RCV001387017
NM_007294.4(BRCA1):c.2T>G (p.Met1Arg) SNV
Germline		 Chr17:43124095 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001955 rs_80357111

5 SubmittersRCV000111546RCV000776485RCV001255546
NM_007294.4(BRCA1):c.302-1G>A SNV
Germline		 Chr17:43104262 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001974 rs_80358116

12 SubmittersRCV000112246RCV000845274RCV001090054RCV001524168RCV001529180
NM_007294.4(BRCA1):c.302-1G>C SNV
Germline		 Chr17:43104262 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001975 rs_80358116

6 SubmittersRCV000191156RCV001176610RCV001192443
NM_007294.4(BRCA1):c.303T>G (p.Tyr101Ter) SNV
Germline		 Chr17:43104260 Pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA001996 rs_80356936

10 SubmittersRCV000048054RCV000074578RCV000112260RCV000162861
NM_007294.4(BRCA1):c.3040A>G (p.Met1014Val) SNV
Germline		 Chr17:43092491 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001997 rs_80356933

3 SubmittersRCV000111987RCV001360640RCV003157360
NM_007294.4(BRCA1):c.3040A>T (p.Met1014Leu) SNV
Germline		 Chr17:43092491 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001998 rs_80356933

8 SubmittersRCV000111988RCV000482931RCV000564207RCV001351127
NM_007294.4(BRCA1):c.3041T>A (p.Met1014Lys) SNV
Germline		 Chr17:43092490 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001999 rs_80357020

9 SubmittersRCV000048057RCV000111989RCV000129436RCV000758805
NM_007294.4(BRCA1):c.3046A>G (p.Asn1016Asp) SNV
Germline		 Chr17:43092485 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002002 rs_80357154

5 SubmittersRCV000111991RCV000131933RCV001300890
NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter) SNV
Germline		 Chr17:43092482 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast carcinoma		 Reviewed By Expert Panel
 CA002004 rs_80357004

9 SubmittersRCV000111993RCV000580724RCV001388997RCV001580149
NM_007294.4(BRCA1):c.3074C>T (p.Thr1025Ile) SNV
Germline		 Chr17:43092457 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002016 rs_397509034

4 SubmittersRCV000576961RCV002319434RCV002514242
NM_007294.4(BRCA1):c.3080G>A (p.Ser1027Asn) SNV
Germline		 Chr17:43092451 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002018 rs_80357386

7 SubmittersRCV000111995RCV000481809RCV001363320RCV001800360RCV002319435
NM_007294.4(BRCA1):c.3122C>G (p.Ser1041Ter) SNV
Germline		 Chr17:43092409 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Gastric cancer		 Reviewed By Expert Panel
 CA002040 rs_397509035

5 SubmittersRCV000256646RCV002513657RCV003162405
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp) SNV
Germline		 Chr17:43092388 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002048 rs_80356899

12 SubmittersRCV000112008RCV000129517RCV000588811RCV000709476
NM_007294.4(BRCA1):c.3169A>G (p.Ser1057Gly) SNV
Germline		 Chr17:43092362 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA002065 rs_80357479

8 SubmittersRCV000077539RCV000509657RCV000587239RCV001325551RCV001328036
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter) SNV
Germline		 Chr17:43092353 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast		 Reviewed By Expert Panel
 CA002070 rs_80357424

18 SubmittersRCV000048092RCV000077540RCV000212171RCV000448786RCV001358497
NM_007294.4(BRCA1):c.3179A>C (p.Glu1060Ala) SNV
Germline		 Chr17:43092352 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002071 rs_80357184

8 SubmittersRCV000112012RCV000167200RCV000500983RCV001368543RCV002292464
NM_007294.4(BRCA1):c.3190A>T (p.Ser1064Cys) SNV
Germline		 Chr17:43092341 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002077 rs_273899702

6 SubmittersRCV000112015RCV000166720RCV001324849RCV003318549
NM_007294.4(BRCA1):c.3220A>G (p.Arg1074Gly) SNV
Germline		 Chr17:43092311 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002086 rs_80357263

10 SubmittersRCV000112031RCV000221174RCV000485156RCV000767060RCV002054874
NM_007294.4(BRCA1):c.3239T>A (p.Leu1080Ter) SNV
Germline		 Chr17:43092292 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002097 rs_80357145

5 SubmittersRCV000112034RCV000496335RCV003476953
NM_007294.4(BRCA1):c.3257T>A (p.Leu1086Ter) SNV
Germline		 Chr17:43092274 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002106 rs_80357006

5 SubmittersRCV000112037RCV000563517RCV001381501
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter) SNV
Germline		 Chr17:43092274 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided		 Reviewed By Expert Panel
 CA002108 rs_80357006

19 SubmittersRCV000048114RCV000083194RCV000131910RCV000414138RCV000657619
NM_007294.4(BRCA1):c.3260G>C (p.Gly1087Ala) SNV
Germline		 Chr17:43092271 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002109 rs_80357172

8 SubmittersRCV000048116RCV000112040RCV000130262RCV000212172
NM_007294.4(BRCA1):c.3263T>A (p.Val1088Asp) SNV
Germline		 Chr17:43092268 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002111 rs_80356901

7 SubmittersRCV000112041RCV001363803RCV002444513
NM_007294.4(BRCA1):c.3268C>T (p.Gln1090Ter) SNV
Germline		 Chr17:43092263 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Neoplasm of ovary
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002112 rs_80357402

8 SubmittersRCV000112042RCV000785407RCV000779899RCV001019530
NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter) SNV
Germline/somatic		 Chr17:43092245 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA002118 rs_80357485

10 SubmittersRCV000112045RCV000486625RCV000510107RCV001356246RCV001386667RCV003332109
NM_007294.4(BRCA1):c.3287A>G (p.Gln1096Arg) SNV
Germline		 Chr17:43092244 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002120 rs_273899704

6 SubmittersRCV000112047RCV000166428RCV001347452
NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser) SNV
Germline		 Chr17:43092226 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002133 rs_80356900

9 SubmittersRCV000112054RCV000214206RCV000506903RCV001350762RCV001582548
NM_007294.4(BRCA1):c.3308G>T (p.Cys1103Phe) SNV
Germline		 Chr17:43092223 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002134 rs_80357135

6 SubmittersRCV000048137RCV000112055RCV000570505RCV000758810
NM_007294.4(BRCA1):c.3309T>A (p.Cys1103Ter) SNV
Germline		 Chr17:43092222 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002136 rs_80357317

4 SubmittersRCV000112056RCV000496685
NM_007294.4(BRCA1):c.3313C>A (p.His1105Asn) SNV
Germline		 Chr17:43092218 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002137 rs_80357288

5 SubmittersRCV000112057RCV001019908RCV001326900
NM_007294.4(BRCA1):c.3319G>T (p.Glu1107Ter) SNV
Germline		 Chr17:43092212 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002139 rs_80357106

12 SubmittersRCV000112058RCV000496209RCV000570252RCV002267822
NM_007294.4(BRCA1):c.332A>C (p.Glu111Ala) SNV
Germline		 Chr17:43104231 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Endometrial carcinoma
not specified		 Criteria Provided
Conflicting Classifications
 CA002154 rs_80357312

10 SubmittersRCV000112332RCV000486172RCV001020000RCV001315292RCV002463633RCV002247442
NM_007294.4(BRCA1):c.3331C>T (p.Gln1111Ter) SNV
Germline		 Chr17:43092200 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Reviewed By Expert Panel
 CA002158 rs_80357089

6 SubmittersRCV000048150RCV000112070RCV001545434
NM_007294.4(BRCA1):c.3340G>T (p.Glu1114Ter) SNV
Germline		 Chr17:43092191 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002163 rs_80357278

6 SubmittersRCV000112073RCV000496843
NM_007294.4(BRCA1):c.3346G>C (p.Val1116Leu) SNV
Germline		 Chr17:43092185 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA002167 rs_55909400

11 SubmittersRCV000112076RCV000218827RCV000779859RCV001319129RCV001561298RCV004554659
NM_007294.4(BRCA1):c.3355A>T (p.Thr1119Ser) SNV
Germline		 Chr17:43092176 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002176 rs_80356949

7 SubmittersRCV000048162RCV000112078RCV000129260RCV000235634
NM_007294.4(BRCA1):c.3367G>T (p.Asp1123Tyr) SNV
Germline		 Chr17:43092164 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002185 rs_80356867

10 SubmittersRCV000077545RCV000048169RCV000132476RCV000236480
NM_007294.4(BRCA1):c.3377C>T (p.Pro1126Leu) SNV
Germline		 Chr17:43092154 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002188 rs_80356887

8 SubmittersRCV000112083RCV000166384RCV000485450RCV001350122
NM_007294.4(BRCA1):c.3398T>G (p.Leu1133Ter) SNV
Germline		 Chr17:43092133 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002197 rs_80356971

4 SubmittersRCV000162045RCV001386166
NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter) SNV
Germline		 Chr17:43092128 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002200 rs_80357136

11 SubmittersRCV000077547RCV000236027RCV000496327RCV000574138
NM_007294.4(BRCA1):c.3407C>G (p.Pro1136Arg) SNV
Germline		 Chr17:43092124 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002202 rs_80357329

6 SubmittersRCV000112088RCV000165960RCV000508280RCV001522503
NM_007294.4(BRCA1):c.3410T>C (p.Met1137Thr) SNV
Germline		 Chr17:43092121 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002204 rs_80357297

11 SubmittersRCV000048182RCV000112089RCV000212173RCV000509877RCV000759520
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro) SNV
Germline		 Chr17:43092107 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002215 rs_80357101

11 SubmittersRCV000077548RCV000221866RCV000590692RCV000765364RCV001296484
NM_007294.4(BRCA1):c.3428C>T (p.Ser1143Phe) SNV
Germline		 Chr17:43092103 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002218 rs_80357434

4 SubmittersRCV000112095RCV001020275RCV001365238
NM_007294.4(BRCA1):c.3437G>C (p.Cys1146Ser) SNV
Germline		 Chr17:43092094 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002226 rs_80357247

6 SubmittersRCV000112098RCV000770742RCV001356231RCV002453363RCV003644880
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) SNV
Germline		 Chr17:43092077 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA002231 rs_80357175

20 SubmittersRCV000112100RCV000129496RCV000212174RCV000589160RCV001081256RCV001196675RCV001353524
NM_007294.4(BRCA1):c.3472G>T (p.Glu1158Ter) SNV
Germline		 Chr17:43092059 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Infiltrating duct carcinoma of breast
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002237 rs_397509072

4 SubmittersRCV000241270RCV000568440RCV000677791RCV001853000
NM_007294.4(BRCA1):c.3491G>T (p.Ser1164Ile) SNV
Germline		 Chr17:43092040 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002249 rs_397509075

5 SubmittersRCV000577396RCV000775157RCV001296731
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter) SNV
Germline		 Chr17:43124063 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Neoplasm of ovary
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002251 rs_80357134

21 SubmittersRCV000111614RCV000412855RCV000496757RCV000785196RCV001020460
NM_007294.4(BRCA1):c.3508A>T (p.Ile1170Phe) SNV
Germline/somatic		 Chr17:43092023 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002254 rs_273899708

3 SubmittersRCV000112106RCV002513658RCV003157367
NM_007294.4(BRCA1):c.3514G>T (p.Glu1172Ter) SNV
Germline		 Chr17:43092017 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002257 rs_397509079

6 SubmittersRCV000236268RCV000241016RCV000775156RCV001380020
NM_007294.4(BRCA1):c.3515A>G (p.Glu1172Gly) SNV
Germline		 Chr17:43092016 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002258 rs_80357206

7 SubmittersRCV000112108RCV000130829RCV000735475RCV000985400RCV001322957
NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter) SNV
Germline		 Chr17:43091987 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer		 Reviewed By Expert Panel
 CA002266 rs_80357296

12 SubmittersRCV000112114RCV000496733RCV001020568RCV003162409
NM_007294.4(BRCA1):c.3560G>A (p.Ser1187Asn) SNV
Germline		 Chr17:43091971 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002275 rs_80356975

8 SubmittersRCV000048233RCV000112118RCV000217356RCV000586582
NM_007294.4(BRCA1):c.3581C>T (p.Thr1194Ile) SNV
Germline		 Chr17:43091950 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA002281 rs_80357290

8 SubmittersRCV000112122RCV000223601RCV001367738RCV002265584
NM_007294.4(BRCA1):c.3587C>A (p.Thr1196Lys) SNV
Germline		 Chr17:43091944 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002287 rs_80356944

5 SubmittersRCV000112126RCV000218622RCV001301253RCV002460902
NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile) SNV
Germline		 Chr17:43091944 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA002289 rs_80356944

15 SubmittersRCV000048242RCV000112127RCV000509865RCV000779887RCV001092620RCV004554662
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) SNV
Germline		 Chr17:43091933 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
not specified
BRCA1-related disorder		 Reviewed By Expert Panel
 CA002296 rs_62625307

22 SubmittersRCV000048245RCV000077552RCV000159977RCV000131819RCV000763003RCV001001611RCV004554663
NM_007294.4(BRCA1):c.3607C>G (p.Arg1203Gly) SNV
Germline/somatic		 Chr17:43091924 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002304 rs_62625308

6 SubmittersRCV000112133RCV001020709RCV001338636
NM_007294.4(BRCA1):c.3613G>A (p.Gly1205Arg) SNV
Germline		 Chr17:43091918 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002308 rs_80357294

6 SubmittersRCV000112135RCV000567875RCV003644881
NM_007294.4(BRCA1):c.3619A>T (p.Lys1207Ter) SNV
Germline		 Chr17:43091912 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002314 rs_80357455

6 SubmittersRCV000112136RCV001180644RCV001383056RCV003137589
NM_007294.4(BRCA1):c.3625T>G (p.Leu1209Val) SNV
Germline		 Chr17:43091906 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002319 rs_273900711

11 SubmittersRCV000048260RCV000077553RCV000130630RCV001251417RCV003226902
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) SNV
Germline		 Chr17:43091891 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Gastric cancer		 Reviewed By Expert Panel
 CA002328 rs_80356923

18 SubmittersRCV000112143RCV000413182RCV000562775RCV000758815RCV000779886RCV001271013RCV003162410
NM_007294.4(BRCA1):c.3647T>G (p.Leu1216Ter) SNV
Germline		 Chr17:43091884 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002334 rs_397509091

3 SubmittersRCV000577655RCV000660997RCV001193194
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro) SNV
Germline		 Chr17:43091882 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
not specified
Malignant tumor of breast
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA002337 rs_273900712

14 SubmittersRCV000048271RCV000112145RCV000164401RCV000758816RCV000765362RCV001194349RCV001354959RCV002250537
NM_007294.4(BRCA1):c.3655G>A (p.Glu1219Lys) SNV
Germline		 Chr17:43091876 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002341 rs_80356921

7 SubmittersRCV000048274RCV000112148RCV000129819RCV001569902
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter) SNV
Germline		 Chr17:43091870 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast		 Reviewed By Expert Panel
 CA002345 rs_80357310

18 SubmittersRCV000048276RCV000112149RCV000148388RCV000162864RCV000258961RCV000735476RCV001353431
NM_007294.4(BRCA1):c.3662A>C (p.Glu1221Ala) SNV
Germline		 Chr17:43091869 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA002346 rs_273900713

9 SubmittersRCV000112150RCV000132409RCV000767143RCV001400108RCV002250538
NM_007294.4(BRCA1):c.3664G>T (p.Glu1222Ter) SNV
Germline		 Chr17:43091867 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002348 rs_80357356

15 SubmittersRCV000083196RCV000131817RCV000496663RCV000505832
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met) SNV
Germline		 Chr17:43091820 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Breast neoplasm
Condition: not provided
Breast and/or ovarian cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA002380 rs_80357388

15 SubmittersRCV000048295RCV000112161RCV000130925RCV000487176RCV000413857RCV000588267RCV003149705RCV002247443
NM_007294.4(BRCA1):c.3713C>G (p.Pro1238Arg) SNV
Germline		 Chr17:43091818 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002381 rs_28897688

8 SubmittersRCV000112162RCV000562256RCV001342448RCV003125888
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter) SNV
Germline		 Chr17:43091813 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002387 rs_80356903

20 SubmittersRCV000048301RCV000077554RCV000162866RCV000519156
NM_007294.4(BRCA1):c.3722C>A (p.Ser1241Tyr) SNV
Germline		 Chr17:43091809 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA002389 rs_80357143

12 SubmittersRCV000048302RCV000112164RCV000130833RCV001719802RCV002228165
NM_007294.4(BRCA1):c.3746C>G (p.Thr1249Ser) SNV
Germline		 Chr17:43091785 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA002399 rs_80357099

7 SubmittersRCV000112169RCV000485104RCV000562072RCV001359002RCV003330417
NM_007294.4(BRCA1):c.3753T>A (p.Cys1251Ter) SNV
Germline		 Chr17:43091778 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002405 rs_397509098

4 SubmittersRCV000257357RCV001386164
NM_007294.4(BRCA1):c.3760A>G (p.Lys1254Glu) SNV
Germline		 Chr17:43091771 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002415 rs_80357362

7 SubmittersRCV000048320RCV000112174RCV000212176RCV000216713
NM_007294.4(BRCA1):c.3772G>T (p.Glu1258Ter) SNV
Germline		 Chr17:43091759 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002429 rs_397509105

5 SubmittersRCV000577819RCV000661038RCV001021099RCV001853001RCV003133128
NM_007294.4(BRCA1):c.3785C>A (p.Ser1262Ter) SNV
Germline		 Chr17:43091746 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002440 rs_80357269

8 SubmittersRCV000112186RCV001853002RCV002362682RCV002477171
NM_007294.4(BRCA1):c.3785C>T (p.Ser1262Leu) SNV
Germline		 Chr17:43091746 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002441 rs_80357269

5 SubmittersRCV000112187RCV001315047RCV001762163RCV001818227RCV003157375
NM_007294.4(BRCA1):c.3803A>G (p.Asn1268Ser) SNV
Germline		 Chr17:43091728 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002449 rs_273900716

3 SubmittersRCV000112190RCV003644883RCV003157376
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter) SNV
Germline		 Chr17:43091714 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ovarian cancer		 Reviewed By Expert Panel
 CA002459 rs_80357208

12 SubmittersRCV000048342RCV000112191RCV000162867RCV001353484RCV002250540RCV003483456
NM_007294.4(BRCA1):c.3835G>A (p.Ala1279Thr) SNV
Germline		 Chr17:43091696 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA002469 rs_80357036

12 SubmittersRCV000083198RCV000129501RCV000435150RCV000679693RCV001082264RCV001357948
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter) SNV
Germline		 Chr17:43091690 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Gastric cancer		 Reviewed By Expert Panel
 CA002475 rs_80356866

16 SubmittersRCV000048350RCV000112195RCV000162868RCV000254889RCV001354944RCV003162411
NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro) SNV
Germline		 Chr17:43091689 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA002476 rs_80357483

9 SubmittersRCV000112198RCV000484233RCV000775153RCV001369992RCV003478991
NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val) SNV
Germline		 Chr17:43091686 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA002478 rs_80357217

12 SubmittersRCV000112199RCV000162771RCV000212177RCV001083561RCV003150940RCV004554670
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg) SNV
Germline		 Chr17:43091683 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002479 rs_80357047

12 SubmittersRCV000112200RCV000130141RCV000235129RCV000985409RCV001358396RCV001486131
NM_007294.4(BRCA1):c.3878C>A (p.Ala1293Asp) SNV
Germline		 Chr17:43091653 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002500 rs_80357213

3 SubmittersRCV000048365RCV000112207RCV003157379
NM_007294.4(BRCA1):c.3878C>T (p.Ala1293Val) SNV
Germline		 Chr17:43091653 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002501 rs_80357213

7 SubmittersRCV000077556RCV000164922RCV001339366RCV001355516
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter) SNV
Germline		 Chr17:43091638 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S		 Reviewed By Expert Panel
 CA002504 rs_80357440

11 SubmittersRCV000077557RCV000162869RCV000212178RCV000587766RCV000763002
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter) SNV
Germline		 Chr17:43091636 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002505 rs_80357038

11 SubmittersRCV000112209RCV000131813RCV000496298RCV000508684
NM_007294.4(BRCA1):c.389A>T (p.Tyr130Phe) SNV
Germline		 Chr17:43104174 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002508 rs_56055578

6 SubmittersRCV000112438RCV000152869RCV000510086RCV000781013RCV001367617
NM_007294.4(BRCA1):c.3903T>A (p.Ser1301Arg) SNV
Germline/somatic		 Chr17:43091628 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002512 rs_273900719

6 SubmittersRCV000048374RCV000077559RCV000775152
NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter) SNV
Germline		 Chr17:43091627 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002513 rs_80357461

13 SubmittersRCV000083199RCV000484534RCV000496224RCV000569716
NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter) SNV
Germline		 Chr17:43104173 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002515 rs_80356888

11 SubmittersRCV000048376RCV000112439RCV000131881RCV001353908
NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter) SNV
Germline		 Chr17:43104172 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002521 rs_80357207

9 SubmittersRCV000112458RCV000509965RCV000723922RCV000781009
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys) SNV
Germline		 Chr17:43091602 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA002524 rs_80357257

14 SubmittersRCV000048383RCV000083201RCV000501619RCV000569349RCV000589731RCV003492386RCV003992170
NM_007294.4(BRCA1):c.3940G>A (p.Asp1314Asn) SNV
Germline		 Chr17:43091591 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002528 rs_80356954

3 SubmittersRCV000112213RCV001315067RCV003157380
NM_007294.4(BRCA1):c.3944C>A (p.Pro1315His) SNV
Germline		 Chr17:43091587 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002529 rs_80357500

3 SubmittersRCV000112215RCV003157381RCV003644884
NM_007294.4(BRCA1):c.3952A>G (p.Ile1318Val) SNV
Germline		 Chr17:43091579 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA002531 rs_397509121

10 SubmittersRCV000480977RCV000509595RCV001339859RCV004554671
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter) SNV
Germline		 Chr17:43091567 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002537 rs_80357343

5 SubmittersRCV000112218RCV000563165RCV000590774
NM_007294.4(BRCA1):c.3965A>T (p.Lys1322Ile) SNV
Germline		 Chr17:43091566 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002540 rs_80357042

5 SubmittersRCV000112219RCV000563671RCV000758819RCV001321831
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter) SNV
Germline		 Chr17:43091564 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002542 rs_80357262

12 SubmittersRCV000048393RCV000083202RCV000570266RCV000985411
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) SNV
Germline		 Chr17:43124094 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Condition: not provided		 Reviewed By Expert Panel
 CA002562 rs_80357475

9 SubmittersRCV000048405RCV000111552RCV000131890RCV000763402RCV001357041
NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly) SNV
Germline		 Chr17:43091500 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA002571 rs_55639854

10 SubmittersRCV000048411RCV000112227RCV000132350RCV000586179RCV003987342
NM_007294.4(BRCA1):c.4040G>A (p.Arg1347Lys) SNV
Germline		 Chr17:43091491 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002579 rs_80357210

5 SubmittersRCV000112231RCV001191518RCV002247444RCV003644885
NM_007294.4(BRCA1):c.4045A>C (p.Thr1349Pro) SNV
Germline		 Chr17:43091486 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002583 rs_80357231

6 SubmittersRCV000112232RCV001021741RCV001359626
NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys) SNV
Germline		 Chr17:43091477 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002589 rs_80357202

8 SubmittersRCV000112235RCV000132305RCV001351578RCV001729372
NM_007294.4(BRCA1):c.4057G>T (p.Glu1353Ter) SNV
Germline		 Chr17:43091474 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002592 rs_80357178

7 SubmittersRCV000112236RCV001021766RCV001386122RCV001800363
NM_007294.4(BRCA1):c.4075C>T (p.Gln1359Ter) SNV
Germline		 Chr17:43091456 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002606 rs_80357456

8 SubmittersRCV000112239RCV001383760RCV002321549RCV003325455
NM_007294.4(BRCA1):c.4097-2A>G SNV
Germline		 Chr17:43091034 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002627 rs_80358019

8 SubmittersRCV000112256RCV000522942RCV001191516RCV001381005
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr) SNV
Germline		 Chr17:43091014 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA002636 rs_55848034

10 SubmittersRCV000112263RCV000132315RCV000195393RCV001284399RCV001798247RCV002281742
NM_007294.4(BRCA1):c.4123G>T (p.Glu1375Ter) SNV
Germline		 Chr17:43091006 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002644 rs_80357397

6 SubmittersRCV000112266RCV001383616RCV003298096
NM_007294.4(BRCA1):c.415C>T (p.Gln139Ter) SNV
Germline		 Chr17:43104148 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002660 rs_80357372

6 SubmittersRCV000048460RCV000112573RCV002326770
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) SNV
Germline		 Chr17:43090963 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA002665 rs_78951648

13 SubmittersRCV000077563RCV000218513RCV000240719RCV000417371RCV001506260RCV002250543
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) SNV
Germline		 Chr17:43090946 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Malignant tumor of breast		 Reviewed By Expert Panel
 CA002677 rs_80357260

27 SubmittersRCV000077564RCV000162874RCV000212181RCV000496276RCV000735467RCV000778172RCV001353792
NM_007294.4(BRCA1):c.4184A>G (p.Gln1395Arg) SNV
Germline		 Chr17:43090945 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA002678 rs_80356972

8 SubmittersRCV000048473RCV000077565RCV000483719RCV000509874RCV001193743
NM_007294.4(BRCA1):c.4185+1G>T SNV
Germline		 Chr17:43090943 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002684 rs_80358076

6 SubmittersRCV000077566RCV001377523RCV002326771RCV002272045
NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=) SNV
Germline		 Chr17:43090944 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002692 rs_80356857

9 SubmittersRCV000112286RCV000567384RCV000759533RCV000779909
NM_007294.4(BRCA1):c.4186-10G>A SNV
Germline		 Chr17:43082585 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA002693 rs_80358172

15 SubmittersRCV000112287RCV000212182RCV000589275RCV000771225RCV001514091RCV003149707RCV004554673
NM_007294.4(BRCA1):c.4186C>T (p.Gln1396Ter) SNV
Germline		 Chr17:43082575 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002700 rs_80357011

9 SubmittersRCV000112291RCV000496729RCV000759534RCV001022003
NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter) SNV
Germline		 Chr17:43082560 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002705 rs_397509151

9 SubmittersRCV000077567RCV000581666RCV000657618RCV001853007
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter) SNV
Germline		 Chr17:43082539 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Neoplasm of ovary		 Reviewed By Expert Panel
 CA002719 rs_80356989

19 SubmittersRCV000077568RCV000131888RCV000214098RCV000236506RCV000785414
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr) SNV
Germline		 Chr17:43082529 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002723 rs_273900729

5 SubmittersRCV000112302RCV001022101RCV001294633
NM_007294.4(BRCA1):c.4237G>T (p.Glu1413Ter) SNV
Germline		 Chr17:43082524 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002724 rs_397509153

3 SubmittersRCV000577308RCV000661143RCV001388613
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter) SNV
Germline		 Chr17:43082503 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002737 rs_80357305

16 SubmittersRCV000077569RCV000236776RCV000496798RCV001022156
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) SNV
Germline		 Chr17:43082500 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002739 rs_80357013

13 SubmittersRCV000112306RCV000131530RCV000174360RCV000679697RCV001084565
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg) SNV
Germline		 Chr17:43082499 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002740 rs_80357079

16 SubmittersRCV000048507RCV000083206RCV000164576RCV000203640RCV000766583
NM_007294.4(BRCA1):c.4288C>T (p.Pro1430Ser) SNV
Germline		 Chr17:43082473 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002750 rs_80357466

4 SubmittersRCV000112308RCV000590640RCV002326773RCV003644887
NM_007294.4(BRCA1):c.4328G>A (p.Arg1443Gln) SNV
Germline		 Chr17:43082433 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002771 rs_4986849

6 SubmittersRCV000112317RCV000771435RCV001360876RCV002267823RCV003477450
NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter) SNV
Germline		 Chr17:43082422 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Familial prostate carcinoma
Condition: not provided		 Reviewed By Expert Panel
 CA002775 rs_80357067

11 SubmittersRCV000077570RCV000448320RCV001271023RCV001381002RCV003398636RCV003477451
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly) SNV
Germline		 Chr17:43082419 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002776 rs_80357486

13 SubmittersRCV000083207RCV000165183RCV000414754RCV000420110RCV000587513RCV001084944
NM_007294.4(BRCA1):c.4357+1G>C SNV
Germline		 Chr17:43082403 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002789 rs_80358027

4 SubmittersRCV000112324RCV000215639RCV001379225
NM_007294.4(BRCA1):c.4357+1G>T SNV
Germline		 Chr17:43082403 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002790 rs_80358027

10 SubmittersRCV000112325RCV000222812RCV000709470RCV002255126
NM_007294.4(BRCA1):c.4357+2T>C SNV
Germline		 Chr17:43082402 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA002791 rs_80358152

2 SubmittersRCV000077571RCV001388957
NM_007294.4(BRCA1):c.4370C>G (p.Ser1457Ter) SNV
Germline		 Chr17:43076602 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002802 rs_80357130

3 SubmittersRCV000112327RCV001388633
NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter) SNV
Germline/somatic		 Chr17:43076600 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002803 rs_80356932

10 SubmittersRCV000112328RCV000131884RCV000657617RCV001381001
NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter) SNV
Germline		 Chr17:43076583 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002813 rs_80356997

16 SubmittersRCV000048544RCV000112330RCV000162877RCV000236736
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) SNV
Germline		 Chr17:43076573 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002821 rs_397509171

8 SubmittersRCV000257306RCV000496449RCV000735468RCV001358297RCV001525143
NM_007294.4(BRCA1):c.43A>C (p.Ile15Leu) SNV
Germline		 Chr17:43124054 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002823 rs_80357031

8 SubmittersRCV000111636RCV000132290RCV001248950RCV001348288
NM_007294.4(BRCA1):c.441+1G>A SNV
Germline		 Chr17:43104121 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002833 rs_397509172

5 SubmittersRCV000258349RCV000571202RCV001381878
NM_007294.4(BRCA1):c.441+2T>A SNV
Germline		 Chr17:43104120 Pathogenic/Likely pathogenic Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002836 rs_397509173

8 SubmittersRCV000414341RCV000709493RCV000776255RCV003129767RCV003492387
NM_007294.4(BRCA1):c.4450T>A (p.Ser1484Thr) SNV
Germline		 Chr17:43076522 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA002855 rs_80357404

4 SubmittersRCV000112335RCV000165863RCV002513661RCV003607224
NM_007294.4(BRCA1):c.4454C>T (p.Thr1485Ile) SNV
Germline		 Chr17:43076518 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002857 rs_80356870

6 SubmittersRCV000048563RCV000077573RCV000167166RCV000780980RCV002477173
NM_007294.4(BRCA1):c.4480G>A (p.Glu1494Lys) SNV
Germline		 Chr17:43076492 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002867 rs_80357148

7 SubmittersRCV000048568RCV000112337RCV000566435RCV000588631
NM_007294.4(BRCA1):c.4480G>T (p.Glu1494Ter) SNV
Germline		 Chr17:43076492 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002868 rs_80357148

5 SubmittersRCV000112338RCV001853010RCV003584532
NM_007294.4(BRCA1):c.4485-1G>A SNV
Germline		 Chr17:43074522 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002878 rs_80358189

14 SubmittersRCV000112343RCV000235386RCV000496695RCV000580034RCV000762999RCV001171415RCV001353957
NM_007294.4(BRCA1):c.4485-2A>G SNV
Germline		 Chr17:43074523 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002879 rs_80358054

12 SubmittersRCV000077574RCV000131885RCV000235822RCV000257895RCV004554678
NM_007294.4(BRCA1):c.4487C>A (p.Ser1496Ter) SNV
Germline/somatic		 Chr17:43074519 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Neoplasm of ovary
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002883 rs_80356953

5 SubmittersRCV000112347RCV000585720RCV000785566RCV001382393
NM_007294.4(BRCA1):c.4487C>G (p.Ser1496Ter) SNV
Germline		 Chr17:43074519 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA002884 rs_80356953

4 SubmittersRCV000112348RCV000496228RCV000735507
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter) SNV
Germline		 Chr17:43074498 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast		 Reviewed By Expert Panel
 CA002889 rs_80357437

16 SubmittersRCV000112351RCV000129157RCV000496782RCV000657616RCV001354015
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) SNV
Germline		 Chr17:43074482 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
not specified
Breast and/or ovarian cancer
Inherited breast cancer and ovarian cancer		 Reviewed By Expert Panel
 CA002893 rs_80356885

29 SubmittersRCV000048586RCV000077575RCV000129129RCV000236102RCV000762998RCV001001033RCV003492388RCV004584141
NM_007294.4(BRCA1):c.4552C>T (p.Gln1518Ter) SNV
Germline		 Chr17:43074454 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002902 rs_80356881

4 SubmittersRCV000112357RCV001853011RCV003162416
NM_007294.4(BRCA1):c.455T>C (p.Leu152Pro) SNV
Germline		 Chr17:43099867 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002904 rs_80357275

9 SubmittersRCV000112710RCV000496612RCV000566935RCV001298223RCV001558020
NM_007294.4(BRCA1):c.4565A>G (p.Tyr1522Cys) SNV
Germline		 Chr17:43074441 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA002906 rs_80357379

4 SubmittersRCV000112358RCV000165983RCV001342447RCV001818228
NM_007294.4(BRCA1):c.4585A>G (p.Ile1529Val) SNV
Germline		 Chr17:43074421 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002916 rs_80357095

9 SubmittersRCV000077577RCV000166323RCV000586073RCV001432824
NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter) SNV
Germline		 Chr17:43074403 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002924 rs_80357366

16 SubmittersRCV000048603RCV000077578RCV000162879RCV000235132RCV000496846
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter) SNV
Germline		 Chr17:43074397 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002926 rs_80357229

11 SubmittersRCV000112363RCV000479214RCV000496357RCV000509797
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter) SNV
Germline		 Chr17:43074394 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002928 rs_80356992

11 SubmittersRCV000048606RCV000077579RCV000420125RCV000510121
NM_007294.4(BRCA1):c.4618G>T (p.Glu1540Ter) SNV
Germline		 Chr17:43074388 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002930 rs_80357277

5 SubmittersRCV000077580RCV001386983RCV002326775
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) SNV
Germline		 Chr17:43074381 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA002933 rs_41293457

12 SubmittersRCV000048609RCV000112366RCV000129407RCV001703953RCV001778692
NM_007294.4(BRCA1):c.4631C>T (p.Pro1544Leu) SNV
Germline		 Chr17:43074375 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002935 rs_80356917

7 SubmittersRCV000112368RCV000132132RCV000479934RCV000780989RCV001434885
NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter) SNV
Germline		 Chr17:43099859 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002941 rs_80357180

5 SubmittersRCV000577493RCV000660995RCV001384584RCV002326776
NM_007294.4(BRCA1):c.4643C>T (p.Thr1548Met) SNV
Germline		 Chr17:43074363 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA002942 rs_273900737

8 SubmittersRCV000112371RCV000130001RCV000203649RCV000505759RCV001269177
NM_007294.4(BRCA1):c.4656C>G (p.Tyr1552Ter) SNV
Germline/somatic		 Chr17:43074350 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002951 rs_80357151

6 SubmittersRCV000048620RCV000112374RCV002326777
NM_007294.4(BRCA1):c.4657T>A (p.Leu1553Met) SNV
Germline		 Chr17:43074349 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002952 rs_80357431

8 SubmittersRCV000112375RCV000164710RCV000212184RCV001364498
NM_007294.4(BRCA1):c.4669G>C (p.Asp1557His) SNV
Germline		 Chr17:43074337 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002955 rs_80356906

8 SubmittersRCV000048622RCV000112376RCV001176277RCV001280674RCV003237432
NM_007294.4(BRCA1):c.4675+1G>A SNV
Germline		 Chr17:43074330 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Breast and/or ovarian cancer
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S		 Reviewed By Expert Panel
 CA002957 rs_80358044

28 SubmittersRCV000048623RCV000077582RCV000131822RCV000225764RCV000414441RCV000735555RCV000762997
NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter) SNV
Germline		 Chr17:43071236 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002973 rs_80357349

9 SubmittersRCV000077583RCV000131834RCV000496210RCV000508627
NM_007294.4(BRCA1):c.4733A>G (p.Asp1578Gly) SNV
Germline		 Chr17:43071181 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA002997 rs_80356930

8 SubmittersRCV000112391RCV000130420RCV000709467RCV001731345
NM_007294.4(BRCA1):c.4741G>T (p.Glu1581Ter) SNV
Germline		 Chr17:43071173 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003000 rs_397509193

4 SubmittersRCV000256574RCV000496862
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys) SNV
Germline		 Chr17:43071149 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003012 rs_80357002

12 SubmittersRCV000083212RCV000166139RCV000437561RCV000587292RCV001081217
NM_007294.4(BRCA1):c.4789A>G (p.Thr1597Ala) SNV
Germline		 Chr17:43071125 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003023 rs_80357187

4 SubmittersRCV000112399RCV001346129RCV002336185
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter) SNV
Germline		 Chr17:43071113 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003028 rs_80357303

10 SubmittersRCV000077587RCV000240804RCV000496525RCV000509637
NM_007294.4(BRCA1):c.4810C>T (p.Gln1604Ter) SNV
Germline		 Chr17:43071104 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003031 rs_80357352

7 SubmittersRCV000112402RCV000215003RCV000480361RCV001382211
NM_007294.4(BRCA1):c.484G>C (p.Val162Leu) SNV
Germline		 Chr17:43099838 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA003052 rs_55816927

8 SubmittersRCV000112717RCV000223399RCV000237044RCV001342417RCV002228166
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) SNV
Germline		 Chr17:43071032 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
not specified
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003061 rs_80357465

14 SubmittersRCV000112414RCV000130592RCV000148406RCV000212187RCV000761958RCV001353677RCV001474576
NM_007294.4(BRCA1):c.4892G>A (p.Ser1631Asn) SNV
Germline		 Chr17:43071022 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003067 rs_273901742

6 SubmittersRCV000112418RCV000563405RCV001254344
NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter) SNV
Germline/somatic		 Chr17:43071011 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003073 rs_200432771

7 SubmittersRCV000112420RCV000129569RCV000496337
NM_007294.4(BRCA1):c.4930G>T (p.Glu1644Ter) SNV
Germline		 Chr17:43070984 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003081 rs_397509205

7 SubmittersRCV000241427RCV000510096RCV001380764RCV001800364
NM_007294.4(BRCA1):c.4931A>G (p.Glu1644Gly) SNV
Germline		 Chr17:43070983 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003082 rs_80357016

6 SubmittersRCV000112422RCV000163234RCV000235446RCV001454137
NM_007294.4(BRCA1):c.4933A>G (p.Arg1645Gly) SNV
Germline		 Chr17:43070981 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003084 rs_80356926

5 SubmittersRCV000112423RCV001853013RCV002336186
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser) SNV
Germline		 Chr17:43070979 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003089 rs_80357373

10 SubmittersRCV000048698RCV000112427RCV000167324RCV000235133RCV000656790
NM_007294.4(BRCA1):c.4941C>A (p.Asn1647Lys) SNV
Germline		 Chr17:43070973 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003092 rs_80357302

7 SubmittersRCV000112429RCV000162826RCV000212188RCV000779911RCV001476833
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) SNV
Germline		 Chr17:43070950 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003111 rs_80357390

13 SubmittersRCV000112436RCV000223580RCV000709466RCV001528321RCV003162417
NM_007294.4(BRCA1):c.4981G>T (p.Glu1661Ter) SNV
Germline		 Chr17:43070933 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003116 rs_80357401

6 SubmittersRCV000112440RCV000574935RCV001380796
NM_007294.4(BRCA1):c.4986+3G>C SNV
Germline		 Chr17:43070925 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003121 rs_80358023

21 SubmittersRCV000048721RCV000112443RCV000162881RCV000236214RCV001171416RCV001353420
NM_007294.4(BRCA1):c.4986+4A>T SNV
Germline		 Chr17:43070924 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003123 rs_80358087

14 SubmittersRCV000048722RCV000077590RCV000255877RCV000509792
NM_007294.4(BRCA1):c.4986+6T>G SNV
Germline		 Chr17:43070922 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Breast carcinoma		 Reviewed By Expert Panel
 CA003128 rs_80358086

19 SubmittersRCV000077591RCV000131820RCV000236376RCV000496750RCV000769711RCV001353600RCV001554289
NM_007294.4(BRCA1):c.4987-2A>G SNV
Germline		 Chr17:43067697 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003132 rs_397509212

7 SubmittersRCV000212189RCV000258325RCV002336187RCV001853015
NM_007294.4(BRCA1):c.4987-3C>G SNV
Germline		 Chr17:43067698 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003133 rs_397509213

3 SubmittersRCV000048727RCV000129699RCV001077889
NM_007294.4(BRCA1):c.4987-5T>A SNV
Germline		 Chr17:43067700 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003135 rs_397509214

4 SubmittersRCV000258417RCV002345342RCV002514246
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met) SNV
Germline		 Chr17:43067689 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003143 rs_80357169

12 SubmittersRCV000048732RCV000129500RCV000083214RCV000420335RCV001080706
NM_007294.4(BRCA1):c.4997A>G (p.Tyr1666Cys) SNV
Germline		 Chr17:43067685 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003145 rs_397509216

6 SubmittersRCV000485681RCV000215472RCV001072950RCV001350265
NM_007294.4(BRCA1):c.4999A>T (p.Lys1667Ter) SNV
Germline		 Chr17:43067683 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003149 rs_80357204

9 SubmittersRCV000112459RCV000235971RCV000774937RCV001853016
NM_007294.4(BRCA1):c.5047G>T (p.Glu1683Ter) SNV
Germline		 Chr17:43067635 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003173 rs_80356879

6 SubmittersRCV000112473RCV000496501
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala) SNV
Germline		 Chr17:43067629 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003174 rs_80356890

8 SubmittersRCV000048749RCV000112475RCV000163024RCV000212192
NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile) SNV
Germline		 Chr17:43067628 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003175 rs_80357043

7 SubmittersRCV000112476RCV001853017RCV002336188
NM_007294.4(BRCA1):c.5058T>A (p.His1686Gln) SNV
Germline		 Chr17:43067624 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA003178 rs_397509218

3 SubmittersRCV000577351RCV001076302RCV002513663
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) SNV
Germline		 Chr17:43099817 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Malignant tumor of breast		 Reviewed By Expert Panel
 CA003179 rs_80357133

11 SubmittersRCV000048752RCV000112722RCV000735469RCV000775189RCV001353667
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr) SNV
Germline		 Chr17:43067616 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA003181 rs_80357061

12 SubmittersRCV000112480RCV000503511RCV000509930RCV000587374RCV000855576
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) SNV
Germline		 Chr17:43067614 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA003183 rs_397507239

14 SubmittersRCV000048756RCV000077592RCV000130370RCV000225765RCV000240688RCV000656791RCV000765357RCV001353418
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala) SNV
Germline		 Chr17:43067611 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA003187 rs_397509219

9 SubmittersRCV000589379RCV000662496RCV000573049RCV001360741RCV003607225
NM_007294.4(BRCA1):c.5074+3A>G SNV
Germline		 Chr17:43067605 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003197 rs_80358181

13 SubmittersRCV000112483RCV000255098RCV000496317RCV001271029RCV001378309RCV002345343
NM_007294.4(BRCA1):c.5075-1G>A SNV
Germline		 Chr17:43063952 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003204 rs_1800747

12 SubmittersRCV000112485RCV000480623RCV000496384RCV000504600RCV000579615RCV000585700
NM_007294.4(BRCA1):c.5075-1G>T SNV
Germline		 Chr17:43063952 Pathogenic/Likely pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003206 rs_1800747

4 SubmittersRCV000577513RCV001078022RCV001390607RCV002336189
NM_007294.4(BRCA1):c.5075-2A>C SNV
Germline		 Chr17:43063953 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003207 rs_80358066

9 SubmittersRCV000112487RCV000496666RCV001353955RCV004018959
NM_007294.4(BRCA1):c.5075A>T (p.Asp1692Val) SNV
Germline		 Chr17:43063951 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003216 rs_397509222

7 SubmittersRCV000048776RCV000238743RCV000486285RCV000510122RCV000766432
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter) SNV
Germline		 Chr17:43063946 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA1-related disorder		 Reviewed By Expert Panel
 CA003221 rs_80356896

18 SubmittersRCV000048780RCV000077593RCV000255531RCV000580802RCV004554685
NM_007294.4(BRCA1):c.5085T>A (p.Phe1695Leu) SNV
Germline		 Chr17:43063941 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003223 rs_80357387

4 SubmittersRCV000112493RCV000562837RCV001853018
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) SNV
Germline		 Chr17:43063937 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
BRCA1-related cancer predisposition		 Reviewed By Expert Panel
 CA003228 rs_80356993

14 SubmittersRCV000077594RCV000163799RCV001284299RCV001378925RCV001357130RCV004566893
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) SNV
Germline		 Chr17:43063931 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and colorectal cancer
Fanconi anemia complementation group A
Ovarian cancer
Familial cancer of breast
Fanconi anemia, complementation group S
Malignant tumor of breast
Endometrial carcinoma		 Reviewed By Expert Panel
 CA003234 rs_55770810

39 SubmittersRCV000048789RCV000077595RCV000131821RCV000159999RCV000148390RCV000191041RCV000239322RCV000457515RCV000585864RCV001357133RCV003128133
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro) SNV
Germline		 Chr17:43063930 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA003236 rs_41293459

8 SubmittersRCV000112496RCV001314422RCV002336191RCV003884343
NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu) SNV
Germline		 Chr17:43063930 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003237 rs_41293459

4 SubmittersRCV000112497RCV001306989
NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala) SNV
Germline		 Chr17:43063928 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003238 rs_397509227

5 SubmittersRCV000519293RCV001078046RCV002345345RCV001367052
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln) SNV
Germline		 Chr17:43099813 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003240 rs_80357264

12 SubmittersRCV000112724RCV000130039RCV000487016RCV000656995RCV001089404
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter) SNV
Germline		 Chr17:43063917 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003244 rs_80356974

17 SubmittersRCV000048797RCV000077597RCV000162883RCV000195365
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) SNV
Germline		 Chr17:43063903 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Familial cancer of breast
Breast carcinoma
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA003252 rs_28897696

35 SubmittersRCV000048802RCV000077599RCV000131831RCV000167826RCV000413608RCV000457403RCV001579293RCV003149709
NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter) SNV
Germline		 Chr17:43063890 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided		 Reviewed By Expert Panel
 CA003260 rs_80357418

14 SubmittersRCV000048806RCV000077600RCV000131830RCV000475804RCV000481118
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) SNV
Germline		 Chr17:43063888 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003262 rs_80357132

12 SubmittersRCV000048808RCV000112502RCV000733369RCV001023598
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly) SNV
Germline		 Chr17:43063885 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003263 rs_80357243

7 SubmittersRCV000112504RCV000129696RCV000677817RCV001376912
NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg) SNV
Germline		 Chr17:43063883 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003264 rs_80357222

8 SubmittersRCV000112505RCV001383430RCV002267824
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys) SNV
Germline		 Chr17:43063883 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003265 rs_80357222

7 SubmittersRCV000112506RCV000129744RCV000586760RCV001280538
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) SNV
Germline		 Chr17:43063882 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003266 rs_45444999

10 SubmittersRCV000112507RCV000508636RCV001023609RCV001853019
NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter) SNV
Germline		 Chr17:43099808 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003273 rs_80356947

13 SubmittersRCV000077602RCV000496876RCV001269949
NM_007294.4(BRCA1):c.5152+1G>T SNV
Germline		 Chr17:43063873 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003281 rs_80358094

10 SubmittersRCV000048820RCV000112516RCV000771916RCV002281895
NM_007294.4(BRCA1):c.5152+3A>C SNV
Germline		 Chr17:43063871 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003285 rs_80358124

4 SubmittersRCV000112517RCV001853020
NM_007294.4(BRCA1):c.5152+5G>A SNV
Germline		 Chr17:43063869 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Ovarian cancer
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003288 rs_80358165

11 SubmittersRCV000083217RCV000779869RCV001179280RCV003312992RCV003328553
NM_007294.4(BRCA1):c.5153-1G>A SNV
Germline		 Chr17:43063374 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003295 rs_80358137

12 SubmittersRCV000112530RCV000496373RCV000522401RCV001023627
NM_007294.4(BRCA1):c.5153-1G>T SNV
Germline		 Chr17:43063374 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA003298 rs_80358137

3 SubmittersRCV000577472RCV001072408RCV001853021
NM_007294.4(BRCA1):c.5153G>A (p.Trp1718Ter) SNV
Germline/somatic		 Chr17:43063373 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA003304 rs_41293461

9 SubmittersRCV000112537RCV000131832RCV002513665RCV003133131RCV003332110
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser) SNV
Germline		 Chr17:43063373 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003305 rs_41293461

5 SubmittersRCV000112538RCV001269394
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter) SNV
Germline		 Chr17:43063372 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Reviewed By Expert Panel
 CA003306 rs_80357239

16 SubmittersRCV000077604RCV000212195RCV000580491RCV000779910RCV001358501
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) SNV
Germline		 Chr17:43063372 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003307 rs_80357239

9 SubmittersRCV000112539RCV000129752RCV000482189RCV001328383RCV003162418
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) SNV
Germline		 Chr17:43063361 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003318 rs_80357104

19 SubmittersRCV000048839RCV000077606RCV000214443RCV000236284RCV001354040RCV002490620
NM_007294.4(BRCA1):c.5173G>T (p.Glu1725Ter) SNV
Germline/somatic		 Chr17:43063353 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003319 rs_80357291

7 SubmittersRCV000112544RCV000657594RCV001179279RCV002513666
NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly) SNV
Germline		 Chr17:43063350 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA003321 rs_80357501

12 SubmittersRCV000083218RCV000164694RCV000484207RCV001487028RCV001311125RCV003492392
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser) SNV
Germline		 Chr17:43063337 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003331 rs_80357171

11 SubmittersRCV000077607RCV000132266RCV000235134RCV000985247RCV001305771
NM_007294.4(BRCA1):c.5193+1G>C SNV
Germline/somatic		 Chr17:43063332 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003337 rs_80358004

6 SubmittersRCV000112550RCV000131171RCV000486220RCV003529968
NM_007294.4(BRCA1):c.5194-12G>A SNV
Germline		 Chr17:43057147 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition		 Reviewed By Expert Panel
 CA003343 rs_80358079

11 SubmittersRCV000048851RCV000077608RCV000583637RCV000762996RCV001171437RCV004566894
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly) SNV
Germline		 Chr17:43057122 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003358 rs_45553935

7 SubmittersRCV000112563RCV000585937RCV001023725RCV001171388
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) SNV
Germline		 Chr17:43057117 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA003363 rs_80356937

17 SubmittersRCV000112566RCV000239131RCV000579604RCV000985433RCV002250544
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) SNV
Germline		 Chr17:43057116 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003365 rs_80357450

13 SubmittersRCV000048864RCV000077609RCV001190130RCV003321494
NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr) SNV
Germline		 Chr17:43057114 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003366 rs_80357283

4 SubmittersRCV000112568RCV002513667
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) SNV
Germline		 Chr17:43057113 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003367 rs_80357227

13 SubmittersRCV000048867RCV000112569RCV000503925RCV000484882RCV000735457RCV001804782
NM_007294.4(BRCA1):c.5216A>T (p.Asp1739Val) SNV
Germline		 Chr17:43057113 Pathogenic/Likely pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003368 rs_80357227

7 SubmittersRCV000520251RCV000614231RCV001378028
NM_007294.4(BRCA1):c.5239C>T (p.Gln1747Ter) SNV
Germline		 Chr17:43057090 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003379 rs_80357367

11 SubmittersRCV000112575RCV000580781RCV000779874RCV001358372
NM_007294.4(BRCA1):c.5242G>A (p.Gly1748Ser) SNV
Germline		 Chr17:43057087 Conflicting classifications of pathogenicity Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003382 rs_397507245

4 SubmittersRCV000577664RCV001076669RCV003529970RCV002336198
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) SNV
Germline		 Chr17:43057086 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003385 rs_397509243

11 SubmittersRCV000077610RCV000164686RCV000508679RCV001377358RCV001357464
NM_007294.4(BRCA1):c.5245C>G (p.Pro1749Ala) SNV
Germline		 Chr17:43057084 Conflicting classifications of pathogenicity Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003386 rs_397509244

5 SubmittersRCV000577593RCV001077078RCV001254348RCV003298097
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) SNV
Germline		 Chr17:43057078 Pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA003389 rs_80357123

44 SubmittersRCV000048882RCV000074600RCV000077611RCV000162884RCV000414226RCV000763399RCV000786961RCV001270975
NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro) SNV
Germline		 Chr17:43057077 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003392 rs_80357442

6 SubmittersRCV000112580RCV000567938RCV001378200RCV001811343
NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro) SNV
Germline		 Chr17:43057075 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003394 rs_80357074

5 SubmittersRCV000112581RCV000563666RCV001326888RCV003321495
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr) SNV
Germline		 Chr17:43057071 Pathogenic/Likely pathogenic Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003398 rs_397509246

5 SubmittersRCV000577271RCV000759559RCV001072582RCV001379222RCV001554320
NM_007294.4(BRCA1):c.5260G>T (p.Glu1754Ter) SNV
Germline		 Chr17:43057069 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003403 rs_80357432

8 SubmittersRCV000048891RCV000112584RCV000985436RCV002336199
NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter) SNV
Germline		 Chr17:43057063 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003410 rs_397509247

9 SubmittersRCV000257437RCV000657590RCV000774930RCV001385497
NM_007294.4(BRCA1):c.5278-1G>A SNV
Germline		 Chr17:43051118 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003432 rs_80358099

7 SubmittersRCV000048903RCV000112597RCV000579697
NM_007294.4(BRCA1):c.5278-1G>C SNV
Germline		 Chr17:43051118 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003434 rs_80358099

13 SubmittersRCV000077612RCV000129416RCV000482206RCV000496568RCV003162419
NM_007294.4(BRCA1):c.5278-1G>T SNV
Germline		 Chr17:43051118 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003436 rs_80358099

9 SubmittersRCV000112598RCV000212198RCV000568672RCV001192500
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser) SNV
Germline		 Chr17:43051113 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003442 rs_80356905

8 SubmittersRCV000112600RCV000131349RCV001194348
NM_007294.4(BRCA1):c.5288G>T (p.Gly1763Val) SNV
Germline		 Chr17:43051107 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003445 rs_80357007

7 SubmittersRCV000048910RCV000112603RCV000212199RCV000508603RCV001023867
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) SNV
Germline		 Chr17:43051104 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003449 rs_80357281

12 SubmittersRCV000112604RCV000509995RCV000588744RCV001528204
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) SNV
Germline		 Chr17:43051089 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA003458 rs_397509257

16 SubmittersRCV000048917RCV000120264RCV000166677RCV000409270RCV000657045RCV001353476RCV003492393
NM_007294.4(BRCA1):c.5307T>A (p.Tyr1769Ter) SNV
Germline		 Chr17:43051088 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003459 rs_397509258

6 SubmittersRCV000257181RCV000657588RCV001390970
NM_007294.4(BRCA1):c.5317A>T (p.Thr1773Ser) SNV
Germline		 Chr17:43051078 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA003470 rs_80357324

9 SubmittersRCV000077613RCV000164158RCV001545333RCV001498333RCV003235023
NM_007294.4(BRCA1):c.5318C>T (p.Thr1773Ile) SNV
Germline		 Chr17:43051077 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003471 rs_80357428

10 SubmittersRCV000048926RCV000077614RCV000496809RCV000509679RCV001770069
NM_007294.4(BRCA1):c.5332+1G>A SNV
Germline		 Chr17:43051062 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003484 rs_80358041

14 SubmittersRCV000048933RCV000112615RCV000508361RCV000565923
NM_007294.4(BRCA1):c.5332+1G>C SNV
Germline		 Chr17:43051062 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003485 rs_80358041

7 SubmittersRCV000235344RCV000662852RCV001182078RCV001390392
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) SNV
Germline		 Chr17:43051063 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003491 rs_80357112

10 SubmittersRCV000048936RCV000077615RCV000131398RCV000587684
NM_007294.4(BRCA1):c.5333-1G>A SNV
Germline		 Chr17:43049195 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003494 rs_80358126

6 SubmittersRCV000169281RCV000758843RCV001384038RCV002345349
NM_007294.4(BRCA1):c.5333-1G>C SNV
Germline		 Chr17:43049195 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003496 rs_80358126

6 SubmittersRCV000112620RCV001182076RCV001390969
NM_007294.4(BRCA1):c.5333-3T>G SNV
Germline		 Chr17:43049197 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003499 rs_397509265

5 SubmittersRCV000258438RCV000845278RCV004018961
NM_007294.4(BRCA1):c.5333-6T>G SNV
Germline		 Chr17:43049200 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003501 rs_397509266

9 SubmittersRCV000577734RCV000580810RCV001076823RCV001367051RCV001800366
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly) SNV
Germline		 Chr17:43049194 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA003503 rs_80357041

15 SubmittersRCV000048945RCV000077617RCV000129616RCV000589573RCV001081585RCV001353416RCV004554689
NM_007294.4(BRCA1):c.5335C>T (p.Gln1779Ter) SNV
Germline		 Chr17:43049192 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003506 rs_397509267

7 SubmittersRCV000257216RCV000573772RCV000657615RCV001390967
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) SNV
Germline		 Chr17:43049188 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003508 rs_80357474

11 SubmittersRCV000048948RCV000112624RCV000132201RCV000236823
NM_007294.4(BRCA1):c.5341G>T (p.Glu1781Ter) SNV
Germline		 Chr17:43049186 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003511 rs_397509268

6 SubmittersRCV000083220RCV001270977RCV003529971
NM_007294.4(BRCA1):c.5345G>A (p.Trp1782Ter) SNV
Germline		 Chr17:43049182 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003512 rs_80357219

12 SubmittersRCV000112626RCV000496911RCV000575788RCV001795043
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu) SNV
Germline		 Chr17:43049180 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA003515 rs_80357012

14 SubmittersRCV000048953RCV000112627RCV000220027RCV000590089RCV002267825RCV002250545
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter) SNV
Germline		 Chr17:43049174 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast		 Reviewed By Expert Panel
 CA003519 rs_80356969

16 SubmittersRCV000048955RCV000077618RCV000223567RCV000236216RCV001353874
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys) SNV
Germline		 Chr17:43049165 Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003528 rs_397509271

5 SubmittersRCV000563925RCV000577373RCV001076845RCV001342446
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr) SNV
Germline		 Chr17:43049162 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003531 rs_80357078

8 SubmittersRCV000048962RCV000580411RCV000989865RCV001795044
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser) SNV
Germline		 Chr17:43049162 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003533 rs_80357078

12 SubmittersRCV000112629RCV000580957RCV001689610RCV001853023RCV004017357
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys) SNV
Germline		 Chr17:43124044 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003549 rs_80356929

7 SubmittersRCV000111654RCV000496411RCV001254329RCV001798249
NM_007294.4(BRCA1):c.5406+4A>G SNV
Germline		 Chr17:43049117 Pathogenic/Likely pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003557 rs_397509279

7 SubmittersRCV000256115RCV001072852RCV001024049RCV002513668
NM_007294.4(BRCA1):c.5406+5G>C SNV
Germline		 Chr17:43049116 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003560 rs_80358073

5 SubmittersRCV000165857RCV000258309RCV000985439RCV001379221
NM_007294.4(BRCA1):c.5407-2A>G SNV
Germline		 Chr17:43047705 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003572 rs_80358002

7 SubmittersRCV000112645RCV000786786RCV002514247
NM_007294.4(BRCA1):c.5416C>G (p.Pro1806Ala) SNV
Germline		 Chr17:43047694 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003580 rs_80357241

8 SubmittersRCV000112648RCV000164214RCV001174629RCV001419359RCV003477455
NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe) SNV
Germline		 Chr17:43047685 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003588 rs_28897698

6 SubmittersRCV000112651RCV000235944RCV001185950RCV001302952
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) SNV
Germline/somatic		 Chr17:43047679 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA003593 rs_397509283

17 SubmittersRCV000238731RCV000235642RCV000779877RCV001024097RCV003332111
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg) SNV
Germline		 Chr17:43047678 Likely pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003594 rs_80357040

7 SubmittersRCV000048993RCV000077623RCV000165979RCV000195396
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) SNV
Germline		 Chr17:43047666 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Breast and/or ovarian cancer
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Neoplasm of ovary
Malignant tumor of breast
Breast carcinoma		 Reviewed By Expert Panel
 CA003599 rs_80356962

32 SubmittersRCV000048996RCV000112656RCV000162887RCV000167788RCV000414344RCV000735516RCV000763398RCV000785212RCV001353974RCV001554250
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter) SNV
Germline		 Chr17:43047665 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer		 Reviewed By Expert Panel
 CA003600 rs_397509284

11 SubmittersRCV000077624RCV000166210RCV000496513RCV003162420
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr) SNV
Germline		 Chr17:43047643 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003618 rs_80357212

11 SubmittersRCV000112662RCV001091356RCV001380441RCV002345354
NM_007294.4(BRCA1):c.547+1G>T SNV
Germline		 Chr17:43099774 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003633 rs_80358030

11 SubmittersRCV000112730RCV000212159RCV000216456RCV000496454
NM_007294.4(BRCA1):c.5488G>A (p.Ala1830Thr) SNV
Germline		 Chr17:43045782 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003657 rs_80357393

5 SubmittersRCV000112673RCV001363804RCV002345355
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) SNV
Germline		 Chr17:43045773 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003667 rs_80357268

14 SubmittersRCV000049017RCV000077626RCV000255915RCV000132307RCV002247446
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) SNV
Germline/somatic		 Chr17:43045767 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Familial cancer of breast
Breast and/or ovarian cancer
Neoplasm of ovary
Malignant tumor of breast
Familial cancer of breast
Neoplasm of ovary
Lung cancer
Breast carcinoma
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Gastric cancer		 Reviewed By Expert Panel
 CA003674 rs_41293465

47 SubmittersRCV000049020RCV000077627RCV000131862RCV000203652RCV000240766RCV000238956RCV000735447RCV000785213RCV001353835RCV001527479RCV001554249RCV002496720RCV003162421
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln) SNV
Germline		 Chr17:43045766 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003676 rs_273902776

15 SubmittersRCV000049023RCV000112685RCV000120265RCV000130437RCV000240743RCV000588102
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) SNV
Germline		 Chr17:43045761 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition		 Reviewed By Expert Panel
 CA003681 rs_80356959

8 SubmittersRCV000112688RCV000130013RCV000499847RCV001380439RCV004566895
NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter) SNV
Germline		 Chr17:43045760 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Uterine corpus cancer		 Reviewed By Expert Panel
 CA003684 rs_80357307

12 SubmittersRCV000112689RCV000218206RCV000496922RCV001268343RCV003128134
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter) SNV
Germline		 Chr17:43045759 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003685 rs_80356914

10 SubmittersRCV000112692RCV000496465RCV001270978RCV003362682
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) SNV
Germline		 Chr17:43045757 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003690 rs_80357107

9 SubmittersRCV000077628RCV000480633RCV001181282RCV001853026
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn) SNV
Germline		 Chr17:43045748 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA003696 rs_80357368

9 SubmittersRCV000112694RCV000236784RCV000583863RCV001254337RCV002250546
NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro) SNV
Germline		 Chr17:43045743 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003697 rs_80357019

4 SubmittersRCV000112695RCV000570342RCV000781015
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter) SNV
Germline		 Chr17:43045734 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003704 rs_80356873

9 SubmittersRCV000112699RCV001853027RCV002345359
NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter) SNV
Germline		 Chr17:43045729 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003706 rs_397509295

7 SubmittersRCV000083222RCV000496623
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) SNV
Germline		 Chr17:43045712 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003714 rs_80357258

10 SubmittersRCV000112703RCV000563885RCV000757927RCV002285262RCV003162422
NM_007294.4(BRCA1):c.5559C>A (p.Tyr1853Ter) SNV
Germline		 Chr17:43045711 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003715 rs_80357336

4 SubmittersRCV000112704RCV003529974
NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro) SNV
Germline		 Chr17:43045709 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003718 rs_80356996

7 SubmittersRCV000083223RCV000571563RCV001326885RCV002250547RCV003493430
NM_007294.4(BRCA1):c.556T>G (p.Ser186Ala) SNV
Germline		 Chr17:43097281 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA003723 rs_397509298

9 SubmittersRCV000049055RCV000579547RCV000662383RCV000759562RCV003607226
NM_007294.4(BRCA1):c.55C>T (p.Gln19Ter) SNV
Germline		 Chr17:43124042 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003737 rs_397509299

8 SubmittersRCV000256854RCV001185214RCV001270979RCV001387016RCV003477456
NM_007294.4(BRCA1):c.572T>A (p.Val191Asp) SNV
Germline		 Chr17:43097265 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003744 rs_80357142

6 SubmittersRCV000112745RCV000164187RCV000481606RCV000779902RCV001343980
NM_007294.4(BRCA1):c.593+4A>G SNV
Germline		 Chr17:43097240 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003750 rs_80358154

5 SubmittersRCV000112748RCV000217340RCV000237043RCV001297373
NM_007294.4(BRCA1):c.594-2A>G SNV
Germline		 Chr17:43095924 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003755 rs_80358033

4 SubmittersRCV000577211RCV001306993RCV003474626RCV004018963
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe) SNV
Germline		 Chr17:43095904 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA003761 rs_80357394

10 SubmittersRCV000112753RCV000129590RCV000225767RCV000589445RCV001268974
NM_007294.4(BRCA1):c.61A>G (p.Ile21Val) SNV
Germline		 Chr17:43124036 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003764 rs_80357406

6 SubmittersRCV000111663RCV000131702RCV000507259RCV001417954
NM_007294.4(BRCA1):c.655G>A (p.Asp219Asn) SNV
Germline		 Chr17:43095861 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA003776 rs_273902779

7 SubmittersRCV000112756RCV000130801RCV000482679RCV001341240RCV003607228
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) SNV
Germline		 Chr17:43124032 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Infant-type hemispheric glioma		 Reviewed By Expert Panel
 CA003779 rs_80357438

16 SubmittersRCV000049081RCV000083224RCV000162704RCV000479212RCV003313774
NM_007294.4(BRCA1):c.671-2A>C SNV
Germline		 Chr17:43094862 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003806 rs_80358108

6 SubmittersRCV000112767RCV000565769RCV001853029
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met) SNV
Germline		 Chr17:43094839 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA003816 rs_80357001

12 SubmittersRCV000049098RCV000112772RCV000162837RCV000586691RCV001175367
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn) SNV
Germline		 Chr17:43094837 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA003819 rs_55975699

16 SubmittersRCV000112773RCV000131176RCV000590689RCV001085836RCV001175356
NM_007294.4(BRCA1):c.707C>G (p.Thr236Ser) SNV
Germline		 Chr17:43094824 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003826 rs_80356990

4 SubmittersRCV000112774RCV000214304RCV002513669
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg) SNV
Germline		 Chr17:43124027 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003829 rs_80357410

7 SubmittersRCV000111679RCV000586566RCV002362685
NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr) SNV
Germline		 Chr17:43124026 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003834 rs_80357198

6 SubmittersRCV000111685RCV000165179RCV000588602RCV001378926
NM_007294.4(BRCA1):c.722C>T (p.Pro241Leu) SNV
Germline		 Chr17:43094809 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003835 rs_80357351

6 SubmittersRCV000112776RCV000165175RCV000586774RCV002054877
NM_007294.4(BRCA1):c.734A>T (p.Asp245Val) SNV
Germline		 Chr17:43094797 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA003841 rs_80356865

13 SubmittersRCV000049112RCV000112778RCV000129392RCV000766561RCV001201209
NM_007294.4(BRCA1):c.754C>T (p.Arg252Cys) SNV
Germline		 Chr17:43094777 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003848 rs_273902786

10 SubmittersRCV000083225RCV000129256RCV000587638RCV000735448RCV001319342RCV003477457
NM_007294.4(BRCA1):c.755G>A (p.Arg252His) SNV
Germline		 Chr17:43094776 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003849 rs_80357138

9 SubmittersRCV000049120RCV000129300RCV000112781RCV000283401
NM_007294.4(BRCA1):c.757G>A (p.Ala253Thr) SNV
Germline		 Chr17:43094774 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003852 rs_80357293

6 SubmittersRCV000112782RCV001853030RCV002247447RCV002390199
NM_007294.4(BRCA1):c.763G>T (p.Glu255Ter) SNV
Germline		 Chr17:43094768 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003854 rs_80357009

7 SubmittersRCV000112783RCV000162890RCV001381877RCV003493431
NM_007294.4(BRCA1):c.773C>G (p.Pro258Arg) SNV
Germline		 Chr17:43094758 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA003860 rs_80357225

9 SubmittersRCV000049127RCV000112784RCV000216393RCV000758847RCV002247448
NM_007294.4(BRCA1):c.792T>G (p.Ser264Arg) SNV
Germline		 Chr17:43094739 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003878 rs_80357214

3 SubmittersRCV000112787RCV001853031RCV003157388
NM_007294.4(BRCA1):c.80+1G>A SNV
Germline		 Chr17:43124016 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003884 rs_80358010

10 SubmittersRCV000111704RCV000496249RCV000677816RCV001027049RCV001093443
NM_007294.4(BRCA1):c.800C>G (p.Ser267Ter) SNV
Germline		 Chr17:43094731 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003883 rs_80357392

5 SubmittersRCV000112791RCV001381875RCV002415507
NM_007294.4(BRCA1):c.81-1G>C SNV
Germline		 Chr17:43115780 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003906 rs_80358018

6 SubmittersRCV000258470RCV001381212RCV001524169
NM_007294.4(BRCA1):c.81-2A>G SNV
Germline		 Chr17:43115781 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003912 rs_397509326

7 SubmittersRCV000238783RCV000482689RCV000772128RCV001384931
NM_007294.4(BRCA1):c.81-9C>G SNV
Germline		 Chr17:43115788 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003917 rs_80358127

8 SubmittersRCV000111718RCV000049152RCV001027266RCV001529263
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu) SNV
Germline		 Chr17:43094720 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA003907 rs_80357244

11 SubmittersRCV000112795RCV000168486RCV000509952RCV000586363RCV001353487RCV003607229
NM_007294.4(BRCA1):c.836A>G (p.His279Arg) SNV
Germline		 Chr17:43094695 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003930 rs_80357482

4 SubmittersRCV000112800RCV001307845RCV002433547
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro) SNV
Germline		 Chr17:43115777 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA003933 rs_80357266

8 SubmittersRCV000077631RCV000588761RCV000775198RCV001342532RCV001804167
NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter) SNV
Germline		 Chr17:43094681 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003940 rs_397509330

9 SubmittersRCV000217707RCV000238750RCV000484760RCV001804784
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg) SNV
Germline		 Chr17:43094680 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003942 rs_80357039

9 SubmittersRCV000112804RCV000507601RCV000563578RCV000764126RCV001281716RCV001370720
NM_007294.4(BRCA1):c.889A>C (p.Met297Leu) SNV
Germline		 Chr17:43094642 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003948 rs_80357196

9 SubmittersRCV000111492RCV000496473RCV000775184RCV001348061RCV003105786
NM_007294.4(BRCA1):c.890T>A (p.Met297Lys) SNV
Germline		 Chr17:43094641 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003951 rs_80356924

7 SubmittersRCV000111493RCV000570460RCV001312407
NM_007294.4(BRCA1):c.89T>A (p.Leu30Ter) SNV
Germline		 Chr17:43115771 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA003955 rs_397509331

6 SubmittersRCV000049180RCV000239109RCV001018621RCV003477458
NM_007294.4(BRCA1):c.900A>C (p.Glu300Asp) SNV
Germline		 Chr17:43094631 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003957 rs_80356861

7 SubmittersRCV000049182RCV000111506RCV000236740RCV000771560
NM_007294.4(BRCA1):c.926A>C (p.Lys309Thr) SNV
Germline		 Chr17:43094605 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003969 rs_80356877

7 SubmittersRCV000111512RCV002253207RCV002257396RCV003529976
NM_007294.4(BRCA1):c.928C>T (p.Gln310Ter) SNV
Germline		 Chr17:43094603 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003972 rs_397509338

10 SubmittersRCV000257439RCV000416963RCV000657623RCV002371890
NM_007294.4(BRCA1):c.93C>G (p.Ile31Met) SNV
Germline		 Chr17:43115767 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003976 rs_80357000

6 SubmittersRCV000111750RCV000444279RCV000775197RCV000588671RCV001501374
NM_007294.4(BRCA1):c.943A>G (p.Arg315Gly) SNV
Germline		 Chr17:43094588 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003977 rs_80357050

4 SubmittersRCV000111514RCV000481816RCV001315064RCV003157389
NM_007294.4(BRCA1):c.964G>A (p.Ala322Thr) SNV
Germline		 Chr17:43094567 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003988 rs_80357252

9 SubmittersRCV000049205RCV000077634RCV000130323RCV001588880
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro) SNV
Germline		 Chr17:43094567 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA003989 rs_80357252

10 SubmittersRCV000049206RCV000083228RCV000218097RCV000483940RCV000780997
NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln) SNV
Germline		 Chr17:43115763 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA003993 rs_80357066

9 SubmittersRCV000049208RCV000111754RCV000478523RCV001353807RCV000735483RCV000775196RCV002281896
NM_007294.4(BRCA1):c.993G>C (p.Arg331Ser) SNV
Germline		 Chr17:43094538 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA004003 rs_80357140

5 SubmittersRCV000111523RCV000486788RCV000775181RCV001340979
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp) SNV
Germline		 Chr17:43094537 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA004004 rs_80357176

11 SubmittersRCV000049215RCV000111524RCV000132444RCV000236122RCV000735449RCV003226182RCV003607230
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln) SNV
Germline		 Chr17:43094536 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA004005 rs_80357464

12 SubmittersRCV000049216RCV000111525RCV000129927RCV000195399RCV000780998RCV004554694
NM_000059.4(BRCA2):c.1325C>A (p.Ser442Ter) SNV
Germline		 Chr13:32332803 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA011601 rs_80358421

3 SubmittersRCV000257449RCV001853033
NM_000059.4(BRCA2):c.5961G>T (p.Gln1987His) SNV
Germline		 Chr13:32340316 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA023423 rs_387907575

8 SubmittersRCV000049344RCV000480427RCV000561617RCV000637728RCV000779990
NM_000059.4(BRCA2):c.10087A>G (p.Ile3363Val) SNV
Germline		 Chr13:32398600 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA010181 rs_55881945

8 SubmittersRCV000074508RCV000132086RCV000206119RCV000662584RCV000985457
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val) SNV
Germline		 Chr13:32332574 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hepatoblastoma		 Criteria Provided
Conflicting Classifications
 CA010792 rs_587779357

13 SubmittersRCV000074510RCV000077249RCV000166352RCV000586794RCV001087766RCV001843473
NM_000059.4(BRCA2):c.1874T>G (p.Phe625Cys) SNV
Germline		 Chr13:32333352 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587779359

3 SubmittersRCV000693983RCV000772731
NM_000059.4(BRCA2):c.2332G>A (p.Val778Ile) SNV
Germline		 Chr13:32336687 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA014983 rs_587779360

10 SubmittersRCV000129872RCV000077276RCV000230477RCV000587254
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val) SNV
Germline		 Chr13:32338533 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA019676 rs_398122776

10 SubmittersRCV000074528RCV000165267RCV000410711RCV000472348RCV001703970RCV001358513
NM_000059.4(BRCA2):c.6688A>G (p.Ile2230Val) SNV
Germline		 Chr13:32341043 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA024294 rs_587779366

8 SubmittersRCV000130830RCV000474506RCV000586574RCV003997059
NM_000059.4(BRCA2):c.9286G>A (p.Glu3096Lys) SNV
Germline		 Chr13:32394718 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA026088 rs_80359199

6 SubmittersRCV000074561RCV000580932RCV000527692RCV004566914
NM_007294.4(BRCA1):c.2518A>T (p.Ser840Cys) SNV
Germline		 Chr17:43093013 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001668 rs_377475866

8 SubmittersRCV000074573RCV000077522RCV000195551RCV000509761
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp) SNV
Germline		 Chr17:43091976 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002273 rs_587779368

10 SubmittersRCV000074581RCV000077551RCV000165151RCV000469806RCV000765363RCV000766573
NM_007294.4(BRCA1):c.3619A>G (p.Lys1207Glu) SNV
Germline		 Chr17:43091912 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002313 rs_80357455

5 SubmittersRCV000074582RCV000195893RCV002453379
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) SNV
Germline		 Chr17:43076562 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002829 rs_80357075

14 SubmittersRCV000077572RCV000131557RCV000120257RCV000724288RCV001083415
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser) SNV
Germline		 Chr2:47783306 Conflicting classifications of pathogenicity Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 5
Endometrial carcinoma
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
MSH6-related disorder		 Criteria Provided
Conflicting Classifications
 CA016371 rs_267608026

14 SubmittersRCV000075031RCV000115442RCV000417385RCV000524214RCV000765674RCV001082180RCV003482130RCV004528274
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) SNV
Germline		 Chr3:37020438 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Lynch syndrome
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Colorectal cancer, hereditary nonpolyposis, type 2		 Criteria Provided
Conflicting Classifications
 CA004051 rs_63751467

18 SubmittersRCV000128912RCV000148621RCV000220791RCV000524219RCV000656860RCV001356843RCV003483462RCV003997106RCV000764485RCV000987162
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) SNV
Germline		 Chr3:37025751 Conflicting classifications of pathogenicity Lynch syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary cancer
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2		 Criteria Provided
Conflicting Classifications
 CA004503 rs_63750760

14 SubmittersRCV000075124RCV000202088RCV000524225RCV000490290RCV000656862RCV001030628RCV000217569RCV003149731RCV003492407RCV000764489
NM_000249.4(MLH1):c.1744C>G (p.Leu582Val) SNV
Germline		 Chr3:37047531 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2		 Criteria Provided
Conflicting Classifications
 CA006690 rs_63751713

7 SubmittersRCV000571505RCV000627697RCV001030630RCV001193957RCV003997117RCV004019101
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) SNV
Germline		 Chr3:37012071 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome 1
Carcinoma of colon
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
MLH1-related disorder		 Criteria Provided
Conflicting Classifications
 CA011361 rs_4986984

15 SubmittersRCV000115483RCV000212524RCV001030563RCV000987154RCV001093666RCV001354844RCV000590255RCV001079587RCV003944989
NM_000249.4(MLH1):c.794G>A (p.Arg265His) SNV
Germline		 Chr3:37017509 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012404 rs_63751448

16 SubmittersRCV000131125RCV000212526RCV000410210RCV000524318RCV000656858RCV001253793RCV001374504
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser) SNV
Germline		 Chr2:47403309 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary breast ovarian cancer syndrome
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder		 Criteria Provided
Conflicting Classifications
 CA017443 rs_63751260

9 SubmittersRCV000236371RCV000491838RCV000627704RCV000781559RCV001030704RCV003466962RCV003997143RCV004528275
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) SNV
Germline		 Chr2:47403205 Conflicting classifications of pathogenicity Lynch syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary nonpolyposis colon cancer
Ovarian cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA018457 rs_56170584

16 SubmittersRCV000076178RCV000412350RCV000524345RCV000486935RCV000165088RCV001030703RCV001354505RCV002513806RCV003153355RCV000781557
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) SNV
Germline		 Chr2:47476425 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Lynch syndrome		 Criteria Provided
Conflicting Classifications
 CA019942 rs_63750790

15 SubmittersRCV000165796RCV000410248RCV000524376RCV001030713RCV001260344RCV001588898RCV003997157
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu) SNV
Germline		 Chr2:47480770 Conflicting classifications of pathogenicity Lynch syndrome 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Lynch syndrome		 Criteria Provided
Conflicting Classifications
 CA020689 rs_63750571

11 SubmittersRCV000662762RCV001174808RCV000215108RCV000524393RCV001030485RCV003997164
NM_000059.4(BRCA2):c.5244C>A (p.Ser1748Arg) SNV
Germline		 Chr13:32339599 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021843 rs_398122528

9 SubmittersRCV000076926RCV000160084RCV000569062RCV000528928RCV000656796
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala) SNV
Germline		 Chr13:32339633 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA021926 rs_28897735

11 SubmittersRCV000076927RCV000131676RCV000440605RCV000476848RCV000985542RCV001353578
NM_000059.4(BRCA2):c.5438T>C (p.Leu1813Pro) SNV
Germline		 Chr13:32339793 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA022330 rs_398122532

7 SubmittersRCV000076931RCV000160090RCV000810148RCV001024101RCV001192447
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr) SNV
Germline		 Chr13:32339850 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022441 rs_138489917

11 SubmittersRCV000076932RCV000132060RCV000588125RCV000160229RCV001353390RCV001079414
NM_000059.4(BRCA2):c.5518G>C (p.Gly1840Arg) SNV
Germline		 Chr13:32339873 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022489 rs_398122533

7 SubmittersRCV000076933RCV000464863RCV000478840RCV000510044
NM_000059.4(BRCA2):c.5539G>A (p.Ala1847Thr) SNV
Germline		 Chr13:32339894 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022516 rs_398122534

4 SubmittersRCV000076934RCV002513807RCV002345388
NM_000059.4(BRCA2):c.5636A>G (p.Glu1879Gly) SNV
Germline		 Chr13:32339991 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA022789 rs_398122536

9 SubmittersRCV000076936RCV000200011RCV000219353RCV000571155RCV001193954
NM_000059.4(BRCA2):c.5649A>C (p.Lys1883Asn) SNV
Germline		 Chr13:32340004 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022832 rs_80358787

11 SubmittersRCV000076938RCV000131541RCV000502274RCV000637343RCV001353577RCV001582563
NM_000059.4(BRCA2):c.5650A>G (p.Ile1884Val) SNV
Germline		 Chr13:32340005 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022846 rs_398122538

6 SubmittersRCV000076939RCV000132469RCV000474428
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala) SNV
Germline		 Chr13:32340168 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023264 rs_41293499

12 SubmittersRCV000076942RCV000129261RCV000168583RCV000257904RCV000657051RCV001798275
NM_000059.4(BRCA2):c.5893C>T (p.Leu1965Phe) SNV
Germline		 Chr13:32340248 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA023343 rs_398122542

10 SubmittersRCV000076944RCV000215394RCV000637433RCV000657041RCV003155065
NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile) SNV
Germline		 Chr13:32340276 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023368 rs_55730620

11 SubmittersRCV000076945RCV000166046RCV000231524RCV000436824RCV001697138
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile) SNV
Germline		 Chr13:32340317 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
8 conditions
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023425 rs_28897739

5 SubmittersRCV000076947RCV000567451RCV000763891RCV000477598
NM_000059.4(BRCA2):c.5969A>C (p.Asp1990Ala) SNV
Germline		 Chr13:32340324 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023434 rs_148618542

8 SubmittersRCV000076948RCV000160188RCV000223167RCV000460454RCV000589650
NM_000059.4(BRCA2):c.59A>G (p.Asn20Ser) SNV
Germline		 Chr13:32316519 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA023490 rs_398122544

7 SubmittersRCV000076950RCV000574036RCV000690786RCV000758917RCV003460721
NM_000059.4(BRCA2):c.608C>A (p.Thr203Asn) SNV
Germline		 Chr13:32326590 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1		 Criteria Provided
Conflicting Classifications
 CA023638 rs_398122547

7 SubmittersRCV000076954RCV000471187RCV000509879RCV000758918RCV001113535
NM_000059.4(BRCA2):c.6098T>A (p.Ile2033Lys) SNV
Germline		 Chr13:32340453 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA023648 rs_398122548

6 SubmittersRCV000076955RCV000217624RCV000469876RCV001526977
NM_000059.4(BRCA2):c.6152A>G (p.Asn2051Ser) SNV
Germline		 Chr13:32340507 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023700 rs_398122549

7 SubmittersRCV000076956RCV000203759RCV000222229
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn) SNV
Germline		 Chr13:32340580 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA023772 rs_80358863

11 SubmittersRCV000076957RCV000130739RCV000255403RCV000558324RCV001194389
NM_000059.4(BRCA2):c.6271A>C (p.Ser2091Arg) SNV
Germline		 Chr13:32340626 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023804 rs_398122550

9 SubmittersRCV000076958RCV000129368RCV000227893RCV000438559RCV000985562
NM_000059.4(BRCA2):c.6295A>G (p.Arg2099Gly) SNV
Germline		 Chr13:32340650 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA023833 rs_398122551

10 SubmittersRCV000076959RCV000222158RCV000695728RCV001199915RCV001800378RCV004528279
NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu) SNV
Germline		 Chr13:32340678 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023908 rs_35029074

10 SubmittersRCV000076961RCV000168279RCV000213911RCV000423308RCV001703980
NM_000059.4(BRCA2):c.6383A>C (p.Lys2128Thr) SNV
Germline		 Chr13:32340738 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023967 rs_398122554

6 SubmittersRCV000076963RCV000772760RCV002513808RCV002477220
NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu) SNV
Germline		 Chr13:32340830 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024092 rs_398122558

9 SubmittersRCV000076967RCV000160111RCV000166819RCV000588031RCV001083727
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter) SNV
Germline		 Chr13:32340842 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA024103 rs_398122559

10 SubmittersRCV000076968RCV000483318RCV000579895RCV001192504RCV003460722
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe) SNV
Germline		 Chr13:32340895 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA024153 rs_398122560

12 SubmittersRCV000076969RCV000131800RCV000160235RCV000234409RCV001109883RCV003477474
NM_000059.4(BRCA2):c.6586A>T (p.Lys2196Ter) SNV
Germline		 Chr13:32340941 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA024190 rs_398122561

3 SubmittersRCV000076970RCV003529979
NM_000059.4(BRCA2):c.6806T>C (p.Ile2269Thr) SNV
Germline		 Chr13:32341161 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA024420 rs_398122564

8 SubmittersRCV000076973RCV000230132RCV000568704RCV001555262RCV001527034
NM_000059.4(BRCA2):c.681+1G>A SNV
Germline		 Chr13:32329493 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024428 rs_398122565

9 SubmittersRCV000076974RCV001190683RCV000496457RCV003137616RCV003474659
NM_000059.4(BRCA2):c.6842-20T>C SNV
Germline		 Chr13:32344538 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA024508 rs_81002811

5 SubmittersRCV000076976RCV000226823RCV000427318RCV000579711
NM_000059.4(BRCA2):c.6971A>G (p.His2324Arg) SNV
Germline		 Chr13:32346860 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA024657 rs_398122574

5 SubmittersRCV000076984RCV000197341RCV001025862
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys) SNV
Germline		 Chr13:32354874 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024759 rs_41293505

11 SubmittersRCV000076986RCV000130453RCV000160126RCV000227614RCV000735598RCV000781128RCV004566938
NM_000059.4(BRCA2):c.7222C>T (p.Pro2408Ser) SNV
Germline		 Chr13:32355075 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024971 rs_398122577

6 SubmittersRCV000076989RCV000214648RCV000697809RCV001588900RCV002288577
NM_000059.4(BRCA2):c.7354A>G (p.Asn2452Asp) SNV
Germline		 Chr13:32355207 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025040 rs_398122580

7 SubmittersRCV000076992RCV000213983RCV000587585RCV000685760
NM_000059.4(BRCA2):c.7355A>G (p.Asn2452Ser) SNV
Germline		 Chr13:32355208 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025041 rs_398122581

4 SubmittersRCV000076993RCV000572915RCV001230752RCV002509201
NM_000059.4(BRCA2):c.7436-10T>C SNV
Germline		 Chr13:32356418 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA025081 rs_398122582

8 SubmittersRCV000076995RCV000470480RCV000608246RCV001190657RCV001284107RCV003149760
NM_000059.4(BRCA2):c.7436-19A>G SNV
Germline		 Chr13:32356409 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025084 rs_398122583

4 SubmittersRCV000076996RCV000476136RCV003987348
NM_000059.4(BRCA2):c.7436-9C>A SNV
Germline		 Chr13:32356419 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA025088 rs_398122584

4 SubmittersRCV000076997RCV001360239RCV001525255
NM_000059.4(BRCA2):c.7637C>T (p.Ser2546Phe) SNV
Germline		 Chr13:32357761 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025205 rs_398122586

10 SubmittersRCV000077003RCV000130695RCV000199472RCV000256073RCV000781115RCV003474660
NM_000059.4(BRCA2):c.7648A>G (p.Ile2550Val) SNV
Germline		 Chr13:32357772 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025211 rs_41293507

5 SubmittersRCV000077004RCV000559770RCV000776374RCV003128579
NM_000059.4(BRCA2):c.7651A>C (p.Lys2551Gln) SNV
Germline		 Chr13:32357775 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025213 rs_398122587

8 SubmittersRCV000077005RCV000132265RCV000160246RCV000476389RCV000589630RCV003607231
NM_000059.4(BRCA2):c.7733G>A (p.Gly2578Glu) SNV
Germline		 Chr13:32357857 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA025249 rs_398122590

3 SubmittersRCV000077008RCV000122931RCV000217106
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg) SNV
Germline		 Chr13:32357910 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025274 rs_398122591

11 SubmittersRCV000077009RCV000160142RCV000197789RCV000509715RCV000770731RCV003460727
NM_000059.4(BRCA2):c.8078T>A (p.Ile2693Lys) SNV
Germline		 Chr13:32363280 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025441 rs_398122595

3 SubmittersRCV000077017RCV001027143RCV001314689
NM_000059.4(BRCA2):c.8125A>G (p.Ser2709Gly) SNV
Germline		 Chr13:32363327 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025463 rs_398122596

9 SubmittersRCV000077018RCV000198708RCV000235393RCV000569993RCV000768638RCV000779969RCV004537300
NM_000059.4(BRCA2):c.8128A>G (p.Ser2710Gly) SNV
Germline		 Chr13:32363330 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025464 rs_398122597

8 SubmittersRCV000077019RCV000219126RCV000474416RCV000656623
NM_000059.4(BRCA2):c.814A>G (p.Asn272Asp) SNV
Germline		 Chr13:32332292 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA025472 rs_398122598

6 SubmittersRCV000077020RCV000486677RCV000529674RCV000774908
NM_000059.3(BRCA2):c.8331+2T>A SNV
Germline		 Chr13:32363535 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA025580 rs_398122602

2 SubmittersRCV000077024RCV004017387
NM_000059.4(BRCA2):c.8366A>G (p.Tyr2789Cys) SNV
Germline		 Chr13:32370436 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA025606 rs_398122603

8 SubmittersRCV000077025RCV000206251RCV000214265RCV001800379RCV001553615
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser) SNV
Germline		 Chr13:32370456 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025620 rs_146120136

11 SubmittersRCV000077028RCV000130261RCV000586491RCV000735611RCV000226735
NM_000059.4(BRCA2):c.8581A>T (p.Arg2861Ter) SNV
Germline		 Chr13:32371049 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025722 rs_398122608

10 SubmittersRCV000077032RCV000657687RCV000130528RCV003460729RCV000699930
NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter) SNV
Germline		 Chr13:32380016 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA026001 rs_398122610

10 SubmittersRCV000077034RCV000130444RCV001380996RCV001557541
NM_000059.4(BRCA2):c.9205T>G (p.Cys3069Gly) SNV
Germline		 Chr13:32380094 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA026031 rs_398122611

5 SubmittersRCV000077035RCV000167063RCV000700869RCV002465509
NM_000059.4(BRCA2):c.9257-8C>T SNV
Germline		 Chr13:32394681 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA026068 rs_11571819

11 SubmittersRCV000077038RCV000759690RCV000780036RCV000773110RCV001088131RCV003492429
NM_000059.4(BRCA2):c.9407T>C (p.Leu3136Pro) SNV
Germline		 Chr13:32394839 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA026144 rs_398122614

4 SubmittersRCV000077042RCV000637816RCV001019282
NM_000059.4(BRCA2):c.9496G>A (p.Val3166Ile) SNV
Germline		 Chr13:32394928 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026177 rs_398122615

7 SubmittersRCV000077043RCV000131348RCV000543406RCV000985629
NM_000059.4(BRCA2):c.9573G>A (p.Trp3191Ter) SNV
Germline		 Chr13:32396969 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA026218 rs_398122617

4 SubmittersRCV000077046RCV001854349RCV000509925
NM_000059.4(BRCA2):c.9698G>A (p.Cys3233Tyr) SNV
Germline		 Chr13:32398211 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026271 rs_398122620

8 SubmittersRCV000077049RCV000509832RCV001041364RCV001284598
NM_000059.4(BRCA2):c.9857T>A (p.Ile3286Asn) SNV
Germline		 Chr13:32398370 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA026315 rs_398122624

6 SubmittersRCV000077053RCV000164700RCV000215513RCV000537252RCV003460730
NM_007294.4(BRCA1):c.1093A>T (p.Arg365Ter) SNV
Germline		 Chr17:43094438 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA000732 rs_398122627

4 SubmittersRCV000077057RCV000496935RCV002444545
NM_007294.4(BRCA1):c.1202G>C (p.Gly401Ala) SNV
Germline		 Chr17:43094329 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000792 rs_397507184

8 SubmittersRCV000077058RCV000131360RCV000759491RCV001215282
NM_007294.4(BRCA1):c.1256T>G (p.Val419Gly) SNV
Germline		 Chr17:43094275 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA000828 rs_398122628

6 SubmittersRCV000077059RCV000225876RCV001010363RCV003226188
NM_007294.4(BRCA1):c.1327A>T (p.Lys443Ter) SNV
Germline		 Chr17:43094204 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA000866 rs_398122630

6 SubmittersRCV000077062RCV000709489RCV000413037RCV002381393
NM_007294.4(BRCA1):c.134+2T>C SNV
Germline		 Chr17:43115724 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000882 rs_80358131

10 SubmittersRCV000077064RCV000218784RCV000466215
NM_007294.4(BRCA1):c.134+5G>A SNV
Germline		 Chr17:43115721 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000886 rs_80358038

6 SubmittersRCV000077065RCV001010944RCV001221249RCV003477477
NM_007294.4(BRCA1):c.1379T>G (p.Ile460Arg) SNV
Germline		 Chr17:43094152 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA000915 rs_398122634

5 SubmittersRCV000077068RCV000637638RCV001731363RCV003157391
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) SNV
Germline		 Chr17:43094134 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000940 rs_199540030

14 SubmittersRCV000077069RCV000159868RCV000469966RCV000132262RCV001354036RCV001509546
NM_007294.4(BRCA1):c.141C>A (p.Cys47Ter) SNV
Germline		 Chr17:43106527 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000957 rs_398122635

4 SubmittersRCV000077070RCV000801060
NM_007294.4(BRCA1):c.154C>A (p.Leu52Ile) SNV
Germline		 Chr17:43106514 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001037 rs_80357084

8 SubmittersRCV000077073RCV000168070RCV000214796RCV001260362
NM_007294.4(BRCA1):c.1607C>G (p.Thr536Ser) SNV
Germline		 Chr17:43093924 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001065 rs_398122638

4 SubmittersRCV000077074RCV000216485RCV001242379
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp) SNV
Germline		 Chr17:43093922 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001067 rs_398122639

11 SubmittersRCV000077075RCV000131971RCV000232941RCV000605647RCV001087842
NM_007294.4(BRCA1):c.1747A>G (p.Lys583Glu) SNV
Germline		 Chr17:43093784 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA001144 rs_80356928

10 SubmittersRCV000077079RCV000131990RCV000168342RCV000485566RCV001192554RCV003492430
NM_007294.4(BRCA1):c.1828A>G (p.Arg610Gly) SNV
Germline		 Chr17:43093703 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001190 rs_398122644

3 SubmittersRCV000077082RCV002513810RCV003157394
NM_007294.4(BRCA1):c.1844C>T (p.Ser615Phe) SNV
Germline		 Chr17:43093687 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001201 rs_398122645

4 SubmittersRCV000077083RCV001065293RCV002408603
NM_007294.4(BRCA1):c.1898C>T (p.Pro633Leu) SNV
Germline		 Chr17:43093633 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001238 rs_398122647

9 SubmittersRCV000077085RCV000129651RCV000509321RCV000637600RCV001268975
NM_007294.4(BRCA1):c.1907G>A (p.Cys636Tyr) SNV
Germline		 Chr17:43093624 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA001248 rs_398122649

9 SubmittersRCV000077087RCV000162827RCV000210899RCV001703981RCV003987349
NM_007294.4(BRCA1):c.2123C>T (p.Ser708Phe) SNV
Germline		 Chr17:43093408 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA001414 rs_80357182

11 SubmittersRCV000077093RCV000131616RCV000205141RCV003317081RCV000767161RCV004554697
NM_007294.4(BRCA1):c.2296A>G (p.Ser766Gly) SNV
Germline		 Chr17:43093235 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001529 rs_398122655

11 SubmittersRCV000077098RCV000457419RCV000585955RCV000482626RCV000564749
NM_007294.4(BRCA1):c.2299A>T (p.Ser767Cys) SNV
Germline		 Chr17:43093232 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001532 rs_80357194

6 SubmittersRCV000077099RCV000132053RCV000554348RCV003327367
NM_007294.4(BRCA1):c.2302A>G (p.Ser768Gly) SNV
Germline		 Chr17:43093229 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001534 rs_398122656

7 SubmittersRCV000077100RCV000132183RCV000457007RCV003237438
NM_007294.4(BRCA1):c.2338C>G (p.Gln780Glu) SNV
Germline		 Chr17:43093193 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA001562 rs_80356945

11 SubmittersRCV000077101RCV000165128RCV000199021RCV000481550RCV000657140RCV000769718
NM_007294.4(BRCA1):c.2389G>A (p.Glu797Lys) SNV
Germline		 Chr17:43093142 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001587 rs_62625306

4 SubmittersRCV000077103RCV003157395RCV003644894
NM_007294.4(BRCA1):c.2392C>T (p.Pro798Ser) SNV
Germline		 Chr17:43093139 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001590 rs_398122658

7 SubmittersRCV000077104RCV001176762RCV000696457
NM_007294.4(BRCA1):c.250G>T (p.Glu84Ter) SNV
Germline		 Chr17:43104919 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001662 rs_398122661

8 SubmittersRCV000077108RCV000583852RCV000702788
NM_007294.4(BRCA1):c.2551G>A (p.Glu851Lys) SNV
Germline		 Chr17:43092980 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001682 rs_398122662

9 SubmittersRCV000077110RCV000159874RCV000575058RCV000766566RCV000800458
NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg) SNV
Germline		 Chr17:43092919 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001719 rs_799917

8 SubmittersRCV000077111RCV000221093RCV000463451RCV000442717RCV001703982
NM_007294.4(BRCA1):c.2706A>C (p.Glu902Asp) SNV
Germline		 Chr17:43092825 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001781 rs_398122665

5 SubmittersRCV000077114RCV000204921RCV000583357
NM_007294.4(BRCA1):c.2754G>T (p.Lys918Asn) SNV
Germline		 Chr17:43092777 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001814 rs_398122668

4 SubmittersRCV000077117RCV003157397RCV003644895
NM_007294.4(BRCA1):c.3041T>C (p.Met1014Thr) SNV
Germline		 Chr17:43092490 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002000 rs_80357020

5 SubmittersRCV000077121RCV000561114RCV000637599
NM_007294.4(BRCA1):c.3151A>G (p.Thr1051Ala) SNV
Germline		 Chr17:43092380 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA002053 rs_398122671

7 SubmittersRCV000077122RCV000775163RCV000792199RCV001280615
NM_007294.4(BRCA1):c.3155A>G (p.Asn1052Ser) SNV
Germline		 Chr17:43092376 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002055 rs_398122672

9 SubmittersRCV000077123RCV000496718RCV000579719RCV000691894RCV003477479
NM_007294.4(BRCA1):c.3642G>T (p.Glu1214Asp) SNV
Germline		 Chr17:43091889 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002332 rs_398122675

5 SubmittersRCV000077127RCV001238201RCV002453392
NM_007294.4(BRCA1):c.3650C>G (p.Ser1217Cys) SNV
Germline		 Chr17:43091881 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA002338 rs_398122676

9 SubmittersRCV000077128RCV000159979RCV000697628RCV001020804RCV002250554
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu) SNV
Germline		 Chr17:43091663 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA002491 rs_80357254

12 SubmittersRCV000077134RCV000218431RCV000234532RCV000759529RCV001193691
NM_007294.4(BRCA1):c.3897G>T (p.Gln1299His) SNV
Germline		 Chr17:43091634 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002506 rs_398122678

5 SubmittersRCV000077135RCV000509701RCV003483465RCV003764751
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter) SNV
Germline		 Chr17:43091477 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA002590 rs_80357202

8 SubmittersRCV000077137RCV001021760RCV001268679RCV001854354RCV000763001
NM_007294.4(BRCA1):c.4088C>T (p.Ser1363Leu) SNV
Germline		 Chr17:43091443 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002612 rs_398122680

7 SubmittersRCV000077139RCV000216362RCV000500864RCV000471702
NM_007294.4(BRCA1):c.4094T>G (p.Leu1365Ter) SNV
Germline		 Chr17:43091437 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA002616 rs_398122681

5 SubmittersRCV000077140RCV000585646RCV001854355
NM_007294.4(BRCA1):c.4354A>T (p.Lys1452Ter) SNV
Germline		 Chr17:43082407 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002783 rs_398122685

6 SubmittersRCV000077145RCV000159991RCV000700553RCV002326792
NM_007294.4(BRCA1):c.4357+2T>G SNV
Germline		 Chr17:43082402 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002792 rs_80358152

6 SubmittersRCV000077146RCV000483230RCV000581212RCV000699035
NM_007294.4(BRCA1):c.4417T>C (p.Ser1473Pro) SNV
Germline		 Chr17:43076555 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA002842 rs_398122686

7 SubmittersRCV000077147RCV000476060RCV000566648RCV001753482RCV003607232
NM_007294.4(BRCA1):c.5129G>A (p.Gly1710Glu) SNV
Germline		 Chr17:43063897 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003258 rs_398122691

7 SubmittersRCV000077155RCV000703488RCV000771310
NM_007294.4(BRCA1):c.5153-3T>C SNV
Germline		 Chr17:43063376 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA003302 rs_375639469

8 SubmittersRCV000077156RCV000588488RCV000165729RCV000474546RCV002468933
NM_007294.4(BRCA1):c.5191G>A (p.Glu1731Lys) SNV
Germline		 Chr17:43063335 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA003333 rs_397507244

6 SubmittersRCV000077158RCV000549475RCV001023693RCV001547117RCV001090053
NM_007294.4(BRCA1):c.5193+1G>T SNV
Germline		 Chr17:43063332 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003338 rs_80358004

10 SubmittersRCV000077159RCV000160001RCV000496615RCV001023694
NM_007294.4(BRCA1):c.5285G>T (p.Arg1762Met) SNV
Germline		 Chr17:43051110 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003444 rs_398122694

7 SubmittersRCV000130276RCV000077163RCV001843474RCV001854358
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu) SNV
Germline		 Chr17:43051068 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA003479 rs_398122695

11 SubmittersRCV000077164RCV000160003RCV000217660RCV000558496RCV001420928
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) SNV
Germline		 Chr17:43049170 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003521 rs_398122697

13 SubmittersRCV000077166RCV000159852RCV000465437RCV000766591RCV000509661
NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser) SNV
Germline		 Chr17:43047652 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA003608 rs_398122698

7 SubmittersRCV000077167RCV000222285RCV000814710RCV003607233
NM_007294.4(BRCA1):c.5467+8G>A SNV
Germline		 Chr17:43047635 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003615 rs_80358062

9 SubmittersRCV000077168RCV000776226RCV001778705RCV000588816RCV001089242
NM_007294.4(BRCA1):c.5468-2A>G SNV
Germline		 Chr17:43045804 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003625 rs_398122699

7 SubmittersRCV000077170RCV000637422RCV001024146
NM_007294.4(BRCA1):c.671-10A>G SNV
Germline		 Chr17:43094870 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003799 rs_398122707

6 SubmittersRCV000077179RCV000581099RCV001460522RCV001719813
NM_007294.4(BRCA1):c.671-1G>C SNV
Germline		 Chr17:43094861 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003804 rs_80358020

5 SubmittersRCV000077180RCV000236539RCV002362721RCV003644898
NM_007294.4(BRCA1):c.695A>T (p.Asp232Val) SNV
Germline		 Chr17:43094836 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA003820 rs_398122708

8 SubmittersRCV000077181RCV000233161RCV000569574RCV001800381RCV003493435
NM_007294.4(BRCA1):c.80+7C>A SNV
Germline		 Chr17:43124010 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003891 rs_80358098

4 SubmittersRCV000077182RCV000605551RCV001468912RCV003477480
NM_007294.4(BRCA1):c.81-1G>A SNV
Germline		 Chr17:43115780 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003904 rs_80358018

13 SubmittersRCV000077185RCV000478388RCV000131873RCV000234498RCV003162504
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys) SNV
Germline		 Chr13:32371100 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast neoplasm
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025745 rs_398122710

6 SubmittersRCV000077638RCV000131955RCV000240702RCV001340616RCV001255558RCV002250555
NM_000059.4(BRCA2):c.8633-1G>A SNV
Germline		 Chr13:32376669 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025747 rs_398122711

8 SubmittersRCV000077639RCV000698187RCV001770075RCV002371922RCV003460731
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val) SNV
Germline		 Chr13:32376736 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA025785 rs_398122712

11 SubmittersRCV000077641RCV000534579RCV000564657RCV001001011RCV001005030
NM_000059.4(BRCA2):c.8755-19A>G SNV
Germline		 Chr13:32379298 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025811 rs_398122713

9 SubmittersRCV000077642RCV000160155RCV000122936RCV000776372RCV001199407
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser) SNV
Germline		 Chr13:32379369 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025831 rs_398122714

14 SubmittersRCV000077643RCV000132403RCV000160158RCV000198146RCV000587247RCV004528280RCV003460732
NM_000059.4(BRCA2):c.8839G>T (p.Glu2947Ter) SNV
Germline		 Chr13:32379401 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA025846 rs_398122715

9 SubmittersRCV000077644RCV000198305RCV000579572RCV000759681RCV003474664
NM_000059.4(BRCA2):c.8933C>G (p.Ser2978Ter) SNV
Germline		 Chr13:32379495 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025878 rs_80359144

3 SubmittersRCV000077645RCV001387963
NM_000059.4(BRCA2):c.8942A>G (p.Glu2981Gly) SNV
Germline		 Chr13:32379504 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025881 rs_398122716

10 SubmittersRCV000077646RCV000510052RCV000586974RCV001087133RCV002469007RCV003460733
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala) SNV
Germline		 Chr13:32398753 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA010554 rs_80358405

11 SubmittersRCV000077652RCV000160262RCV000129127RCV000458506RCV000985459
NM_000059.4(BRCA2):c.1066T>A (p.Ser356Thr) SNV
Germline		 Chr13:32332544 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA010729 rs_398122722

4 SubmittersRCV000077654RCV001342021RCV001193842RCV003157399
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val) SNV
Germline		 Chr13:32319125 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA011036 rs_398122724

10 SubmittersRCV000077656RCV000160132RCV000545014RCV000130510RCV002267845
NM_000059.4(BRCA2):c.1261C>G (p.Gln421Glu) SNV
Germline		 Chr13:32332739 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011373 rs_80358419

6 SubmittersRCV000077657RCV000223427RCV001363119
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys) SNV
Germline		 Chr13:32332782 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions		 Criteria Provided
Conflicting Classifications
 CA011523 rs_398122725

9 SubmittersRCV000077658RCV000218740RCV000704661RCV001010872RCV002490672
NM_000059.4(BRCA2):c.1405G>C (p.Asp469His) SNV
Germline		 Chr13:32332883 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA011938 rs_398122727

4 SubmittersRCV000077660RCV000820306RCV002390231
NM_000059.4(BRCA2):c.1642C>T (p.Gln548Ter) SNV
Germline		 Chr13:32333120 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA012735 rs_398122729

8 SubmittersRCV000077662RCV000130404RCV000823651RCV001800382
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys) SNV
Germline		 Chr13:32319181 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA013007 rs_397507603

11 SubmittersRCV000077663RCV000195636RCV000216277RCV000985468RCV001824599RCV004566942
NM_000059.4(BRCA2):c.1733G>A (p.Gly578Asp) SNV
Germline		 Chr13:32333211 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013024 rs_398122730

6 SubmittersRCV000077664RCV000166334RCV001854359
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp) SNV
Germline		 Chr13:32333240 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Fanconi anemia complementation group D1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA013120 rs_398122731

15 SubmittersRCV000077665RCV000160207RCV000531905RCV000163030RCV001353480RCV001109420RCV001703984
NM_000059.4(BRCA2):c.1805G>T (p.Gly602Val) SNV
Germline		 Chr13:32333283 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA013348 rs_398122732

9 SubmittersRCV000077666RCV000572020RCV000758866RCV000824255RCV001194415
NM_000059.4(BRCA2):c.1814T>C (p.Ile605Thr) SNV
Germline		 Chr13:32333292 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA013415 rs_80358468

11 SubmittersRCV000077667RCV000165793RCV001082118RCV003488376RCV000588653
NM_000059.4(BRCA2):c.1819A>T (p.Lys607Ter) SNV
Germline		 Chr13:32333297 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA013458 rs_80358471

7 SubmittersRCV000077668RCV000496499RCV002408604
NM_000059.4(BRCA2):c.1885C>T (p.Leu629Phe) SNV
Germline		 Chr13:32333363 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA013724 rs_398122734

6 SubmittersRCV000077670RCV000130468RCV000637481RCV000479487
NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter) SNV
Germline		 Chr13:32336300 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA014000 rs_398122735

12 SubmittersRCV000077672RCV000496928RCV000772116RCV001262845
NM_000059.4(BRCA2):c.1966A>G (p.Thr656Ala) SNV
Germline		 Chr13:32336321 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA014049 rs_398122736

8 SubmittersRCV000077673RCV000216699RCV000637334RCV001175561RCV001566524
NM_000059.4(BRCA2):c.2044A>T (p.Ile682Phe) SNV
Germline		 Chr13:32336399 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA014207 rs_398122738

7 SubmittersRCV000077675RCV000164636RCV000695727
NM_000059.4(BRCA2):c.2045T>C (p.Ile682Thr) SNV
Germline		 Chr13:32336400 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA014216 rs_398122739

6 SubmittersRCV000077676RCV000525381RCV000770714RCV002415572
NM_000059.4(BRCA2):c.2047T>C (p.Ser683Pro) SNV
Germline		 Chr13:32336402 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA014223 rs_398122740

4 SubmittersRCV000077677RCV001854360RCV002415573
NM_000059.4(BRCA2):c.217C>T (p.Gln73Ter) SNV
Germline		 Chr13:32319226 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA014544 rs_398122741

5 SubmittersRCV000077678RCV002426640RCV002515748
NM_000059.4(BRCA2):c.2214T>A (p.Cys738Ter) SNV
Germline		 Chr13:32336569 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA014637 rs_398122742

8 SubmittersRCV000077679RCV000581800RCV000693161RCV001588902
NM_000059.4(BRCA2):c.2252C>T (p.Thr751Ile) SNV
Germline		 Chr13:32336607 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA014749 rs_398122743

6 SubmittersRCV000165229RCV000077680RCV000704300
NM_000059.4(BRCA2):c.232C>T (p.Pro78Ser) SNV
Germline		 Chr13:32319241 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA014957 rs_398122745

7 SubmittersRCV000077682RCV000162666RCV000637740RCV003460735
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter) SNV
Germline		 Chr13:32336723 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA015053 rs_398122746

12 SubmittersRCV000077684RCV000507480RCV000657661RCV001015304RCV003460736
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser) SNV
Germline		 Chr13:32337012 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions		 Criteria Provided
Conflicting Classifications
 CA015957 rs_80358526

8 SubmittersRCV000077690RCV000131954RCV001299353RCV001800383RCV002483128
NM_000059.4(BRCA2):c.2758C>T (p.Pro920Ser) SNV
Germline		 Chr13:32337113 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA016284 rs_397507293

5 SubmittersRCV000077693RCV000122904RCV001016515RCV002250556
NM_000059.4(BRCA2):c.2822T>G (p.Val941Gly) SNV
Germline		 Chr13:32337177 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA016510 rs_398122754

6 SubmittersRCV000077696RCV000509894RCV000692302RCV002260606
NM_000059.4(BRCA2):c.2835A>C (p.Lys945Asn) SNV
Germline		 Chr13:32337190 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016551 rs_398122755

6 SubmittersRCV000077697RCV000213415RCV000459511
NM_000059.4(BRCA2):c.2924T>G (p.Ile975Ser) SNV
Germline		 Chr13:32337279 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016800 rs_398122756

5 SubmittersRCV000077698RCV000561550RCV001854361
NM_000059.4(BRCA2):c.2942A>G (p.Lys981Arg) SNV
Germline		 Chr13:32337297 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA016842 rs_398122757

5 SubmittersRCV000077699RCV000700243RCV002433582RCV003155066
NM_000059.4(BRCA2):c.2981C>T (p.Ala994Val) SNV
Germline		 Chr13:32337336 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA016957 rs_398122758

5 SubmittersRCV000077701RCV000122905RCV000160052RCV000165816
NM_000059.4(BRCA2):c.3010A>G (p.Ser1004Gly) SNV
Germline		 Chr13:32337365 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA017037 rs_398122759

8 SubmittersRCV000077702RCV000232614RCV001811354RCV000565814
NM_000059.4(BRCA2):c.3302A>G (p.His1101Arg) SNV
Germline		 Chr13:32337657 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA017748 rs_398122761

12 SubmittersRCV000077704RCV000129726RCV000196747RCV000483080RCV000657002
NM_000059.4(BRCA2):c.3401G>C (p.Ser1134Thr) SNV
Germline		 Chr13:32337756 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA017944 rs_398122764

7 SubmittersRCV000077707RCV000132468RCV000231178RCV001719814
NM_000059.4(BRCA2):c.3407T>C (p.Ile1136Thr) SNV
Germline		 Chr13:32337762 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA017957 rs_398122765

6 SubmittersRCV000077708RCV001217071RCV001020224RCV004537302
NM_000059.4(BRCA2):c.3414G>C (p.Gln1138His) SNV
Germline		 Chr13:32337769 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA017972 rs_398122766

6 SubmittersRCV000077709RCV001020235RCV001217072RCV004537303
NM_000059.4(BRCA2):c.3518T>C (p.Ile1173Thr) SNV
Germline		 Chr13:32337873 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA018250 rs_398122767

5 SubmittersRCV000077710RCV000130564RCV000697710
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys) SNV
Germline		 Chr13:32325111 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA018264 rs_375125172

15 SubmittersRCV000077711RCV000129600RCV000160016RCV000168454RCV000240706RCV000590557RCV003474666
NM_000059.4(BRCA2):c.3668A>G (p.His1223Arg) SNV
Germline		 Chr13:32338023 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA018509 rs_398122768

6 SubmittersRCV000077712RCV000800645RCV001562627RCV002453393RCV003321501
NM_000059.4(BRCA2):c.3709G>C (p.Ala1237Pro) SNV
Germline		 Chr13:32338064 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA018619 rs_398122770

9 SubmittersRCV000077714RCV000205458RCV000776156RCV000759605RCV001818243
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser) SNV
Germline		 Chr13:32338304 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA019259 rs_398122773

8 SubmittersRCV000077718RCV000229385RCV000509876RCV001355525RCV001804830RCV003736569
NM_000059.4(BRCA2):c.3995A>G (p.His1332Arg) SNV
Germline		 Chr13:32338350 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019343 rs_398122774

5 SubmittersRCV000077719RCV000165461RCV000545850
NM_000059.4(BRCA2):c.4178C>G (p.Ala1393Gly) SNV
Germline		 Chr13:32338533 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019671 rs_398122776

4 SubmittersRCV000077722RCV000164308RCV000637643
NM_000059.4(BRCA2):c.426-2A>G SNV
Germline		 Chr13:32326099 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA019852 rs_398122779

8 SubmittersRCV000077725RCV000503210RCV000160018RCV001353493RCV002326793RCV003460738
NM_000059.4(BRCA2):c.4274A>G (p.Asp1425Gly) SNV
Germline		 Chr13:32338629 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA019888 rs_398122780

8 SubmittersRCV000077726RCV000471950RCV000772745RCV000985520RCV001193119
NM_000059.4(BRCA2):c.4294A>G (p.Ser1432Gly) SNV
Germline		 Chr13:32338649 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019930 rs_398122781

4 SubmittersRCV000077727RCV002326794RCV003644900
NM_000059.4(BRCA2):c.4325C>G (p.Ser1442Ter) SNV
Germline		 Chr13:32338680 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA019993 rs_80358670

7 SubmittersRCV000077728RCV000160186RCV000570068RCV001854362
NM_000059.4(BRCA2):c.4477G>C (p.Glu1493Gln) SNV
Germline		 Chr13:32338832 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA020254 rs_398122782

4 SubmittersRCV000077729RCV000459380RCV003157400
NM_000059.4(BRCA2):c.4739G>A (p.Cys1580Tyr) SNV
Germline		 Chr13:32339094 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA020733 rs_398122784

4 SubmittersRCV000077732RCV001346041RCV001762202RCV003157401
NM_000059.4(BRCA2):c.4847T>G (p.Leu1616Ter) SNV
Germline		 Chr13:32339202 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA020903 rs_398122786

4 SubmittersRCV000077734RCV002336230RCV002514364
NM_000059.4(BRCA2):c.489T>G (p.Ser163Arg) SNV
Germline		 Chr13:32326255 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA020981 rs_398122787

8 SubmittersRCV000077735RCV000205650RCV000506258RCV001023225RCV003477481RCV004566943
NM_000059.4(BRCA2):c.4906A>G (p.Lys1636Glu) SNV
Germline		 Chr13:32339261 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA020993 rs_398122788

7 SubmittersRCV000077737RCV000166671RCV000231152RCV000240716RCV000758900
NM_000059.4(BRCA2):c.5054C>A (p.Ser1685Ter) SNV
Germline		 Chr13:32339409 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA021187 rs_398122791

6 SubmittersRCV000077740RCV000802160RCV001186723RCV000255153
NM_000059.4(BRCA2):c.5125G>T (p.Asp1709Tyr) SNV
Germline		 Chr13:32339480 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA021330 rs_398122792

12 SubmittersRCV000077741RCV000213126RCV000758905RCV000206087RCV002228188
NM_000059.4(BRCA2):c.5155A>T (p.Asn1719Tyr) SNV
Germline		 Chr13:32339510 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021407 rs_398122794

5 SubmittersRCV000077743RCV000580987RCV001854363
NM_000059.4(BRCA2):c.-3A>G SNV
Germline		 Chr13:32316458 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA019351 rs_431825277

3 SubmittersRCV000082879RCV000122896RCV000772642
NM_000059.4(BRCA2):c.10162A>G (p.Thr3388Ala) SNV
Germline		 Chr13:32398675 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA010402 rs_431825278

5 SubmittersRCV000082880RCV000587975RCV001443475RCV001804835
NM_000059.4(BRCA2):c.10166C>T (p.Ser3389Phe) SNV
Germline		 Chr13:32398679 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA010411 rs_431825279

5 SubmittersRCV000082881RCV000220925RCV000637504RCV001280645RCV001575168
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn) SNV
Germline		 Chr13:32332624 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
8 conditions		 Criteria Provided
Conflicting Classifications
 CA010939 rs_431825280

9 SubmittersRCV000082882RCV000130529RCV000486000RCV001036707RCV002498436
NM_000059.4(BRCA2):c.1421T>C (p.Leu474Pro) SNV
Germline		 Chr13:32332899 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA011989 rs_431825281

4 SubmittersRCV000082884RCV000122899RCV001011512
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys) SNV
Germline		 Chr13:32332911 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions		 Criteria Provided
Conflicting Classifications
 CA012027 rs_431825282

6 SubmittersRCV000082885RCV000559197RCV000772727RCV000763880
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg) SNV
Germline		 Chr13:32333046 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast neoplasm
not specified
Condition: not provided
Cancer of the pancreas
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA012439 rs_80358443

16 SubmittersRCV000082887RCV000132044RCV000240762RCV000160205RCV000590104RCV000677856RCV001353673RCV001088277RCV002250558RCV003153359
NM_000059.4(BRCA2):c.1709A>G (p.Asn570Ser) SNV
Germline		 Chr13:32333187 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA012963 rs_431825284

9 SubmittersRCV000082889RCV000637388RCV000767150RCV001012835
NM_000059.4(BRCA2):c.1777G>T (p.Ala593Ser) SNV
Germline		 Chr13:32333255 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA013186 rs_431825286

5 SubmittersRCV000082891RCV000637708RCV000562320
NM_000059.4(BRCA2):c.1780A>C (p.Ile594Leu) SNV
Germline		 Chr13:32333258 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013194 rs_431825287

8 SubmittersRCV000082892RCV000167234RCV000219220RCV001219311
NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter) SNV
Germline		 Chr13:32333385 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA013790 rs_431825288

6 SubmittersRCV000082893RCV000526079RCV003460757RCV001725966RCV002408612
NM_000059.4(BRCA2):c.2071G>A (p.Ala691Thr) SNV
Germline		 Chr13:32336426 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA014272 rs_431825290

6 SubmittersRCV000082895RCV000565909RCV001854444
NM_000059.4(BRCA2):c.2086G>A (p.Glu696Lys) SNV
Germline		 Chr13:32336441 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA014291 rs_431825291

4 SubmittersRCV000082896RCV001176132RCV001364606
NM_000059.4(BRCA2):c.2098T>A (p.Leu700Ile) SNV
Germline		 Chr13:32336453 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA014347 rs_431825293

5 SubmittersRCV000082898RCV000204537RCV000776355
NM_000059.4(BRCA2):c.2173A>G (p.Lys725Glu) SNV
Germline		 Chr13:32336528 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA014510 rs_431825294

6 SubmittersRCV000082899RCV000814350RCV001175563RCV002426648
NM_000059.4(BRCA2):c.2185A>G (p.Ile729Val) SNV
Germline		 Chr13:32336540 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA014554 rs_431825295

5 SubmittersRCV000082900RCV000219501RCV001226249
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr) SNV
Germline		 Chr13:32336541 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
8 conditions
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Ovarian cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA014563 rs_431825296

13 SubmittersRCV000082901RCV000166578RCV000240800RCV000758870RCV000763882RCV001112184RCV000637814RCV000677830RCV002298468
NM_000059.4(BRCA2):c.2398G>A (p.Gly800Ser) SNV
Germline		 Chr13:32336753 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA015119 rs_431825297

4 SubmittersRCV000082902RCV001214081RCV002444552
NM_000059.4(BRCA2):c.2789A>G (p.Tyr930Cys) SNV
Germline		 Chr13:32337144 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA016368 rs_431825299

4 SubmittersRCV000082904RCV000555804RCV000573307
NM_000059.4(BRCA2):c.3167A>G (p.Gln1056Arg) SNV
Germline		 Chr13:32337522 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA017412 rs_431825301

6 SubmittersRCV000082906RCV000218077RCV000486491RCV000705390RCV000780000
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg) SNV
Germline		 Chr13:32337528 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA017465 rs_431825302

13 SubmittersRCV000082907RCV000173966RCV000565270RCV000724725RCV001084692
NM_000059.4(BRCA2):c.3194T>C (p.Ile1065Thr) SNV
Germline		 Chr13:32337549 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA017501 rs_431825303

9 SubmittersRCV000082908RCV000132329RCV000168025RCV001284559
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile) SNV
Germline		 Chr13:32337581 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
not specified		 Criteria Provided
Conflicting Classifications
 CA017586 rs_431825304

12 SubmittersRCV000082909RCV000222899RCV000588617RCV000799401RCV001113630RCV002247480
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys) SNV
Germline		 Chr13:32337834 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA018145 rs_183920365

12 SubmittersRCV000082913RCV000210809RCV000521196RCV000459507RCV000780007
NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe) SNV
Germline		 Chr13:32337872 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Chordoma
not specified		 Criteria Provided
Conflicting Classifications
 CA018244 rs_431825308

9 SubmittersRCV000082914RCV000562261RCV000637509RCV001582574RCV002266922RCV003321502
NM_000059.4(BRCA2):c.3551G>C (p.Gly1184Ala) SNV
Germline		 Chr13:32337906 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA018307 rs_431825309

5 SubmittersRCV000082915RCV000166576RCV001857399
NM_000059.4(BRCA2):c.3578C>T (p.Ala1193Val) SNV
Germline		 Chr13:32337933 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA018374 rs_431825310

9 SubmittersRCV000082916RCV000216169RCV000429172RCV000812976RCV001357751
NM_000059.4(BRCA2):c.3700C>A (p.Leu1234Met) SNV
Germline		 Chr13:32338055 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA018608 rs_431825311

6 SubmittersRCV000082918RCV000570982RCV000759604RCV000809862
NM_000059.4(BRCA2):c.3939C>G (p.Tyr1313Ter) SNV
Germline		 Chr13:32338294 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA019246 rs_80358641

7 SubmittersRCV000082922RCV000567978RCV000520208RCV001388924
NM_000059.4(BRCA2):c.4157A>T (p.Asp1386Val) SNV
Germline		 Chr13:32338512 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019633 rs_431825316

5 SubmittersRCV000082924RCV001021967RCV001854445
NM_000059.4(BRCA2):c.4159T>A (p.Leu1387Ile) SNV
Germline		 Chr13:32338514 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019635 rs_431825317

7 SubmittersRCV000082925RCV000164638RCV000507417RCV000637472
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser) SNV
Germline		 Chr13:32338538 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA019684 rs_431825318

11 SubmittersRCV000082926RCV000165596RCV000478490RCV000546266RCV000766618RCV003330428
NM_000059.4(BRCA2):c.4354C>G (p.Gln1452Glu) SNV
Germline		 Chr13:32338709 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA020031 rs_431825319

7 SubmittersRCV000082927RCV000213089RCV001051329RCV003398686
NM_000059.4(BRCA2):c.4423A>G (p.Met1475Val) SNV
Germline		 Chr13:32338778 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020166 rs_431825320

4 SubmittersRCV000082928RCV000566502RCV000701791
NM_000059.4(BRCA2):c.4747A>T (p.Ile1583Phe) SNV
Germline		 Chr13:32339102 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA020749 rs_56072130

7 SubmittersRCV000082931RCV000130034RCV000702595RCV001283924RCV003987358
NM_000059.4(BRCA2):c.4975T>G (p.Ser1659Ala) SNV
Germline		 Chr13:32339330 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021085 rs_431825324

7 SubmittersRCV000082933RCV000215418RCV000545723RCV001775581
NM_000059.4(BRCA2):c.5239A>G (p.Asn1747Asp) SNV
Germline		 Chr13:32339594 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021837 rs_431825328

6 SubmittersRCV000082939RCV000581287RCV001857401
NM_000059.4(BRCA2):c.5335G>A (p.Val1779Ile) SNV
Germline		 Chr13:32339690 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA022034 rs_431825329

8 SubmittersRCV000082940RCV000231399RCV000486253RCV000561227RCV001193174
NM_000059.4(BRCA2):c.5578A>T (p.Lys1860Ter) SNV
Germline		 Chr13:32339933 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA022617 rs_431825332

5 SubmittersRCV000082944RCV000164633RCV000637590RCV001800390
NM_000059.4(BRCA2):c.5707A>C (p.Ile1903Leu) SNV
Germline		 Chr13:32340062 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023020 rs_431825333

4 SubmittersRCV000082945RCV000562326RCV001854446
NM_000059.4(BRCA2):c.5714A>T (p.His1905Leu) SNV
Germline		 Chr13:32340069 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023034 rs_80358796

6 SubmittersRCV000082946RCV000160097RCV000571260RCV001202227
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile) SNV
Germline		 Chr13:32340084 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023080 rs_276174863

10 SubmittersRCV000082947RCV000132401RCV000457400RCV001283930
NM_000059.4(BRCA2):c.5737T>G (p.Cys1913Gly) SNV
Germline		 Chr13:32340092 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023107 rs_80358799

11 SubmittersRCV000082948RCV000130867RCV000168581RCV000257905RCV000588195RCV003149769
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg) SNV
Germline		 Chr13:32340102 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
not specified		 Criteria Provided
Conflicting Classifications
 CA023149 rs_431825334

10 SubmittersRCV000082949RCV000160100RCV000214692RCV000702374RCV000763890RCV000779974
NM_000059.4(BRCA2):c.5784A>C (p.Glu1928Asp) SNV
Germline		 Chr13:32340139 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023225 rs_431825335

7 SubmittersRCV000082950RCV000122919RCV000523964RCV000580238
NM_000059.4(BRCA2):c.5846A>G (p.Asp1949Gly) SNV
Germline		 Chr13:32340201 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023295 rs_431825336

6 SubmittersRCV000082951RCV000461990RCV001024593RCV003322751
NM_000059.4(BRCA2):c.5855T>G (p.Leu1952Trp) SNV
Germline		 Chr13:32340210 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023308 rs_375064902

5 SubmittersRCV000082952RCV001854447RCV002354286
NM_000059.4(BRCA2):c.6080G>A (p.Arg2027Lys) SNV
Germline		 Chr13:32340435 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023625 rs_431825337

9 SubmittersRCV000082953RCV000160107RCV000794485RCV000780019RCV000772758
NM_000059.4(BRCA2):c.6118A>G (p.Ile2040Val) SNV
Germline		 Chr13:32340473 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023670 rs_80358850

7 SubmittersRCV000082954RCV000165889RCV000416535
NM_000059.4(BRCA2):c.631+7A>G SNV
Germline		 Chr13:32326620 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA023865 rs_431825339

9 SubmittersRCV000082956RCV000477537RCV000499706RCV001182329RCV001353791RCV003607235
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr) SNV
Germline		 Chr13:32340981 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions
not specified		 Criteria Provided
Conflicting Classifications
 CA024222 rs_431825344

9 SubmittersRCV000082961RCV000119208RCV000217422RCV000763894RCV001844033
NM_000059.4(BRCA2):c.6679G>A (p.Ala2227Thr) SNV
Germline		 Chr13:32341034 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA024283 rs_431825345

5 SubmittersRCV000082962RCV000538858RCV001025522RCV003226193
NM_000059.4(BRCA2):c.6837A>T (p.Leu2279Phe) SNV
Germline		 Chr13:32341192 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024480 rs_431825346

5 SubmittersRCV000082963RCV000132289RCV000694161
NM_000059.4(BRCA2):c.6959T>A (p.Leu2320Ter) SNV
Germline		 Chr13:32346848 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA024636 rs_80358923

7 SubmittersRCV000082965RCV000216188RCV000509686RCV000637789
NM_000059.4(BRCA2):c.7006C>T (p.Arg2336Cys) SNV
Germline		 Chr13:32346895 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Ovarian cancer
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA024698 rs_431825347

11 SubmittersRCV000082966RCV000132214RCV000476201RCV000588307RCV000855635RCV003153360RCV001798283
NM_000059.4(BRCA2):c.7178T>C (p.Met2393Thr) SNV
Germline		 Chr13:32355031 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA024926 rs_431825351

6 SubmittersRCV000082970RCV000131350RCV000697572RCV000985576
NM_000059.4(BRCA2):c.7559G>A (p.Arg2520Gln) SNV
Germline		 Chr13:32356551 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA025147 rs_80358982

11 SubmittersRCV000082974RCV000130121RCV000585960RCV001080947RCV001354035RCV002469008
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met) SNV
Germline		 Chr13:32357749 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
9 conditions
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025196 rs_80358989

12 SubmittersRCV000082975RCV000132470RCV000197583RCV000515343RCV000589734RCV001844034RCV004566974
NM_000059.4(BRCA2):c.7811T>C (p.Leu2604Pro) SNV
Germline		 Chr13:32362528 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025295 rs_431825357

5 SubmittersRCV000082980RCV000165518RCV000755223RCV003644903
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys) SNV
Germline		 Chr13:32362588 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025315 rs_431825358

12 SubmittersRCV000082981RCV000216510RCV000257979RCV000479795RCV000657061RCV001170972RCV004566975
NM_000059.4(BRCA2):c.7930A>G (p.Asn2644Asp) SNV
Germline		 Chr13:32362647 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025340 rs_431825360

8 SubmittersRCV000082983RCV000213312RCV000218919RCV000808327RCV001194436
NM_000059.4(BRCA2):c.7977-15T>G SNV
Germline		 Chr13:32363164 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA025371 rs_431825361

7 SubmittersRCV000082984RCV000227332RCV000435845RCV000776347
NM_000059.4(BRCA2):c.7985C>A (p.Thr2662Lys) SNV
Germline		 Chr13:32363187 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA025382 rs_431825362

12 SubmittersRCV000082985RCV000129687RCV000196144RCV000210092RCV000587063RCV001357871
NM_000059.4(BRCA2):c.836G>T (p.Cys279Phe) SNV
Germline		 Chr13:32332314 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025609 rs_431825364

4 SubmittersRCV000082987RCV000223335RCV001202842
NM_000059.4(BRCA2):c.8714A>G (p.Tyr2905Cys) SNV
Germline		 Chr13:32376751 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA025791 rs_431825368

6 SubmittersRCV000082992RCV000460625RCV000479199RCV000584302
NM_000059.4(BRCA2):c.8755-17A>G SNV
Germline		 Chr13:32379300 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025810 rs_431825370

5 SubmittersRCV000082994RCV000580630RCV000779976RCV000900795
NM_000059.4(BRCA2):c.8837T>A (p.Leu2946Ter) SNV
Germline		 Chr13:32379399 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Reviewed By Expert Panel
 CA025845 rs_431825371

8 SubmittersRCV000082995RCV000164349RCV000471016RCV000508358RCV000657681
NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly) SNV
Germline		 Chr13:32379848 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025943 rs_431825373

6 SubmittersRCV000082998RCV000132352RCV000483142RCV000703275RCV003474688
NM_000059.4(BRCA2):c.905C>A (p.Thr302Asn) SNV
Germline		 Chr13:32332383 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025950 rs_80359158

7 SubmittersRCV000082999RCV000197152RCV000564157RCV000758969
NM_000059.4(BRCA2):c.9098C>T (p.Thr3033Ile) SNV
Germline		 Chr13:32379894 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025974 rs_431825374

9 SubmittersRCV000083000RCV000166290RCV000269121RCV000689164RCV001824601
NM_000059.4(BRCA2):c.9256+10A>G SNV
Germline		 Chr13:32380155 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026055 rs_431825375

3 SubmittersRCV000083001RCV001798284RCV002055239
NM_000059.4(BRCA2):c.9256+1G>C SNV
Germline		 Chr13:32380146 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026058 rs_81002883

7 SubmittersRCV000083002RCV001051718RCV002255284
NM_000059.4(BRCA2):c.9547A>G (p.Ile3183Val) SNV
Germline		 Chr13:32396943 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026207 rs_377123889

6 SubmittersRCV000083004RCV000129405RCV000585947RCV000637985
NM_000059.4(BRCA2):c.9584C>T (p.Thr3195Ile) SNV
Germline		 Chr13:32396980 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026223 rs_431825376

5 SubmittersRCV000083005RCV000583198RCV001050514
NM_000059.4(BRCA2):c.9647T>C (p.Leu3216Pro) SNV
Germline		 Chr13:32397043 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026245 rs_431825377

5 SubmittersRCV000083006RCV000164007RCV000460198
NM_000059.4(BRCA2):c.9651G>A (p.Met3217Ile) SNV
Germline		 Chr13:32398164 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA026259 rs_431825379

5 SubmittersRCV000083008RCV000468886RCV000582783RCV002281917
NM_007294.4(BRCA1):c.1015A>G (p.Lys339Glu) SNV
Germline		 Chr17:43094516 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000685 rs_55842957

9 SubmittersRCV000083015RCV000417490RCV000776162RCV001085581
NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter) SNV
Germline		 Chr17:43094317 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA000798 rs_80357481

6 SubmittersRCV000083017RCV000677801RCV000772035RCV000813264
NM_007294.4(BRCA1):c.2081G>A (p.Ser694Asn) SNV
Germline		 Chr17:43093450 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001381 rs_431825388

5 SubmittersRCV000083025RCV000164402RCV001245413
NM_007294.4(BRCA1):c.2732G>A (p.Gly911Glu) SNV
Germline		 Chr17:43092799 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001801 rs_431825392

5 SubmittersRCV000083029RCV000771416RCV001313460
NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn) SNV
Germline		 Chr17:43092621 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001895 rs_431825394

8 SubmittersRCV000083031RCV000130827RCV000656787RCV001087157
NM_007294.4(BRCA1):c.3406C>A (p.Pro1136Thr) SNV
Germline		 Chr17:43092125 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002201 rs_431825395

7 SubmittersRCV000083032RCV000165441RCV000203770
NM_007294.4(BRCA1):c.3433G>T (p.Val1145Phe) SNV
Germline		 Chr17:43092098 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002222 rs_431825396

8 SubmittersRCV000083033RCV000199171RCV000579595RCV001290658RCV001357066
NM_007294.4(BRCA1):c.3437G>A (p.Cys1146Tyr) SNV
Germline		 Chr17:43092094 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002225 rs_80357247

7 SubmittersRCV000083034RCV000572614RCV000552093RCV000985398
NM_007294.4(BRCA1):c.3774G>T (p.Glu1258Asp) SNV
Germline		 Chr17:43091757 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002431 rs_431825399

5 SubmittersRCV000083037RCV002345403RCV003644904
NM_007294.4(BRCA1):c.3869A>C (p.Lys1290Thr) SNV
Germline		 Chr17:43091662 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002494 rs_431825401

5 SubmittersRCV000083039RCV000687405RCV002362735
NM_007294.4(BRCA1):c.3914A>T (p.Asp1305Val) SNV
Germline		 Chr17:43091617 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA002517 rs_431825402

7 SubmittersRCV000083041RCV000549261RCV000775151RCV002307392
NM_007294.4(BRCA1):c.3944C>G (p.Pro1315Arg) SNV
Germline		 Chr17:43091587 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002530 rs_80357500

10 SubmittersRCV000083042RCV000131512RCV000424747RCV000469729RCV001284394
NM_007294.4(BRCA1):c.3955G>A (p.Gly1319Ser) SNV
Germline		 Chr17:43091576 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002532 rs_431825403

6 SubmittersRCV000083043RCV000196014RCV001355094RCV002371934
NM_007294.4(BRCA1):c.4072G>T (p.Glu1358Ter) SNV
Germline		 Chr17:43091459 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002602 rs_397509136

6 SubmittersRCV000083045RCV000496909RCV000574041
NM_007294.4(BRCA1):c.4185+10G>A SNV
Germline		 Chr17:43090934 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002679 rs_80358104

9 SubmittersRCV000083048RCV000421135RCV000581043RCV001084169RCV001281725
NM_007294.4(BRCA1):c.4357+7A>G SNV
Germline		 Chr17:43082397 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA002795 rs_431825407

5 SubmittersRCV000083052RCV000582878RCV000637934RCV001636653RCV001798285
NM_007294.4(BRCA1):c.4986+5G>A SNV
Germline		 Chr17:43070923 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast carcinoma
Familial cancer of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003124 rs_397509211

9 SubmittersRCV000083057RCV000197490RCV001578277RCV002250559RCV002345404
NM_007294.4(BRCA1):c.5152+7A>G SNV
Germline		 Chr17:43063867 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003293 rs_80358046

9 SubmittersRCV000083061RCV000422346RCV000559883RCV000776170RCV001800393
NM_007294.4(BRCA1):c.5193+1G>A SNV
Germline		 Chr17:43063332 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003336 rs_80358004

7 SubmittersRCV000083063RCV001053397RCV001800394RCV002336242
NM_007294.4(BRCA1):c.5254G>A (p.Ala1752Thr) SNV
Germline		 Chr17:43057075 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003393 rs_80357074

6 SubmittersRCV000083065RCV001222121RCV001190129RCV001567559
NM_007294.4(BRCA1):c.5276A>G (p.Lys1759Arg) SNV
Germline		 Chr17:43057053 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003417 rs_431825415

5 SubmittersRCV000083068RCV000774929RCV001854450
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg) SNV
Germline		 Chr17:43049188 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003509 rs_80357474

5 SubmittersRCV000083070RCV000567641RCV002513859
NM_007294.4(BRCA1):c.5407-10G>A SNV
Germline		 Chr17:43047713 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003567 rs_273901767

8 SubmittersRCV000083071RCV000507858RCV001524513RCV001857403
NM_007294.4(BRCA1):c.-19-5T>C SNV
Germline		 Chr17:43124120 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001300 rs_273898671

3 SubmittersRCV000111501RCV001189358RCV001482419
NM_007294.4(BRCA1):c.80+1G>T SNV
Germline		 Chr17:43124016 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003886 rs_80358010

4 SubmittersRCV000111706RCV000637548
NM_007294.4(BRCA1):c.80+2T>G SNV
Germline		 Chr17:43124015 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003887 rs_80358128

7 SubmittersRCV000111707RCV001027050RCV001356283RCV001854520
NM_007294.4(BRCA1):c.80+4A>T SNV
Germline		 Chr17:43124013 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003888 rs_80358003

4 SubmittersRCV000111708RCV000465110RCV001027051
NM_007294.4(BRCA1):c.80+7C>T SNV
Germline		 Chr17:43124010 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA003892 rs_80358098

7 SubmittersRCV000111710RCV000936794RCV001176121RCV001193744RCV001800396RCV001354623
NM_007294.4(BRCA1):c.81-20C>T SNV
Germline		 Chr17:43115799 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003909 rs_80358039

6 SubmittersRCV000111715RCV000587753RCV001085521
NM_007294.4(BRCA1):c.134+1G>C SNV
Germline		 Chr17:43115725 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000878 rs_80358043

6 SubmittersRCV000111847RCV000589448RCV004019598RCV001800397
NM_007294.4(BRCA1):c.135-20T>G SNV
Germline		 Chr17:43106553 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA000896 rs_80358025

5 SubmittersRCV000111859RCV000590037RCV001079166RCV001176885RCV001171476
NM_007294.4(BRCA1):c.135-2A>G SNV
Germline		 Chr17:43106535 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000897 rs_80358065

7 SubmittersRCV000111860RCV000238811RCV000509887RCV001854521
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr) SNV
Germline		 Chr17:43091755 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Carcinoma of colon		 Criteria Provided
Conflicting Classifications
 CA002432 rs_483353090

11 SubmittersRCV000112181RCV000159849RCV000771318RCV000779862RCV001084247RCV001357117
NM_007294.4(BRCA1):c.4097-7A>G SNV
Germline		 Chr17:43091039 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002629 rs_80358007

5 SubmittersRCV000112258RCV000444439RCV001191517RCV001479161
NM_007294.4(BRCA1):c.4675+3A>T SNV
Germline		 Chr17:43074328 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002961 rs_80358082

4 SubmittersRCV000112378RCV000496914RCV000772124
NM_007294.4(BRCA1):c.4676-1G>A SNV
Germline		 Chr17:43071239 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA002968 rs_80358008

9 SubmittersRCV000112381RCV000205534RCV000563564RCV001271028
NM_007294.4(BRCA1):c.4676-2A>G SNV
Germline		 Chr17:43071240 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002969 rs_80358096

5 SubmittersRCV000112382RCV000131824RCV000477221RCV000480901
NM_007294.4(BRCA1):c.4676-8C>G SNV
Germline		 Chr17:43071246 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA002971 rs_80358021

11 SubmittersRCV000112383RCV000234080RCV000580027RCV000501584RCV001283906RCV003149773
NM_007294.4(BRCA1):c.4730C>A (p.Ser1577Tyr) SNV
Germline		 Chr17:43071184 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002996 rs_273901741

9 SubmittersRCV000112390RCV000508591RCV000509888RCV000589804RCV000691967
NM_007294.4(BRCA1):c.4986+1G>A SNV
Germline		 Chr17:43070927 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003118 rs_80358162

4 SubmittersRCV000112442RCV000802713
NM_007294.4(BRCA1):c.4987-11T>C SNV
Germline		 Chr17:43067706 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA003129 rs_80358170

7 SubmittersRCV000112445RCV000196687RCV000773180RCV001711198RCV001354485RCV000429981
NM_007294.4(BRCA1):c.5075-1G>C SNV
Germline		 Chr17:43063952 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003205 rs_1800747

6 SubmittersRCV000112486RCV001036909RCV003298139
NM_007294.4(BRCA1):c.5152+1G>A SNV
Germline		 Chr17:43063873 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003279 rs_80358094

8 SubmittersRCV000112514RCV000222947RCV000798093
NM_007294.4(BRCA1):c.5152+6T>C SNV
Germline		 Chr17:43063868 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003291 rs_80358074

7 SubmittersRCV000112523RCV001525568RCV000687321
NM_007294.4(BRCA1):c.5152+6T>G SNV
Germline		 Chr17:43063868 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003292 rs_80358074

5 SubmittersRCV000112524RCV000590147RCV001023624RCV001211670
NM_007294.4(BRCA1):c.5153-26A>G SNV
Germline		 Chr17:43063399 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA003299 rs_80358109

8 SubmittersRCV000112532RCV001253796RCV002336244RCV003607239
NM_007294.4(BRCA1):c.5194-1G>A SNV
Germline		 Chr17:43057136 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA003345 rs_80358173

3 SubmittersRCV000112558RCV000780800
NM_007294.4(BRCA1):c.5332+2T>A SNV
Germline		 Chr17:43051061 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003487 rs_80358182

6 SubmittersRCV000112616RCV001182077RCV001224781
NM_007294.4(BRCA1):c.5332+4A>G SNV
Germline		 Chr17:43051059 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003490 rs_80358166

9 SubmittersRCV000112618RCV000131936RCV000160005RCV000807389
NM_007294.4(BRCA1):c.5333-8C>T SNV
Germline		 Chr17:43049202 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA003502 rs_80358084

15 SubmittersRCV000112623RCV000233774RCV000501072RCV000582283RCV000587578RCV003149774RCV004554706
NM_007294.4(BRCA1):c.5406+9T>C SNV
Germline		 Chr17:43049112 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA003566 rs_80358040

5 SubmittersRCV000112641RCV000541608RCV001284554RCV001798288
NM_007294.4(BRCA1):c.5407-1G>A SNV
Germline		 Chr17:43047704 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003569 rs_80358029

9 SubmittersRCV000112642RCV000496433RCV001353913RCV002477263RCV001024050
NM_007294.4(BRCA1):c.5407-1G>C SNV
Germline		 Chr17:43047704 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003570 rs_80358029

7 SubmittersRCV000112643RCV000481406RCV001193745RCV001024051
NM_007294.4(BRCA1):c.5467+2T>C SNV
Germline		 Chr17:43047641 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003611 rs_80358009

6 SubmittersRCV000112659RCV000162889RCV000586131
NM_007294.4(BRCA1):c.5467+2T>G SNV
Germline		 Chr17:43047641 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003612 rs_80358009

3 SubmittersRCV000112660RCV001051199
NM_007294.4(BRCA1):c.5468-17G>A SNV
Germline		 Chr17:43045819 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003621 rs_80358176

3 SubmittersRCV000112664RCV000774926RCV002514561
NM_007294.4(BRCA1):c.5468-18T>A SNV
Germline		 Chr17:43045820 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003622 rs_80358157

4 SubmittersRCV000112665RCV000430492RCV000476139RCV003352771
NM_007294.4(BRCA1):c.5468-1G>A SNV
Germline		 Chr17:43045803 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003623 rs_80358048

10 SubmittersRCV000112666RCV000457753RCV001171440RCV003162525
NM_007294.4(BRCA1):c.547+1G>A SNV
Germline		 Chr17:43099774 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003632 rs_80358030

9 SubmittersRCV000112729RCV000533400RCV000570102RCV001781438
NM_007294.4(BRCA1):c.548-12G>A SNV
Germline		 Chr17:43097301 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003643 rs_80358164

4 SubmittersRCV000112732RCV000940577RCV001180528RCV001588922
NM_007294.4(BRCA1):c.671-15T>A SNV
Germline		 Chr17:43094875 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003802 rs_80358058

5 SubmittersRCV000112764RCV000445299RCV000589215RCV000775185RCV001469706
NM_007294.4(BRCA1):c.671-1G>T SNV
Germline		 Chr17:43094861 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003805 rs_80358020

7 SubmittersRCV000112766RCV000131864RCV000496515RCV002250562RCV001580455
NM_000059.4(BRCA2):c.1401G>C (p.Lys467Asn) SNV
Germline		 Chr13:32332879 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA011917 rs_276174808

6 SubmittersRCV000112917RCV000545323RCV000587440RCV001188331
NM_000059.4(BRCA2):c.1504A>C (p.Lys502Gln) SNV
Germline		 Chr13:32332982 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012258 rs_276174809

7 SubmittersRCV000112928RCV000160038RCV000223354RCV000637723
NM_000059.4(BRCA2):c.-14T>C SNV
Germline		 Chr13:32316447 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012248 rs_276174796

5 SubmittersRCV000112995RCV000437674RCV000773254RCV001456348
NM_000059.4(BRCA2):c.-12T>C SNV
Germline		 Chr13:32316449 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011494 rs_276174795

5 SubmittersRCV000112999RCV000586575RCV000776392RCV001089418
NM_000059.4(BRCA2):c.2629C>G (p.Pro877Ala) SNV
Germline		 Chr13:32336984 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA015892 rs_80358524

9 SubmittersRCV000113071RCV000483653RCV000556749RCV000570550RCV000780044
NM_000059.4(BRCA2):c.2836G>C (p.Asp946His) SNV
Germline		 Chr13:32337191 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016576 rs_80358534

6 SubmittersRCV000113100RCV000222307RCV000586610RCV000637635
NM_000059.4(BRCA2):c.2957A>T (p.Asn986Ile) SNV
Germline		 Chr13:32337312 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016904 rs_28897718

6 SubmittersRCV000113120RCV000566118RCV000679164RCV000703734
NM_000059.4(BRCA2):c.2978G>A (p.Trp993Ter) SNV
Germline		 Chr13:32337333 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder
Familial cancer of breast		 Reviewed By Expert Panel
 CA016937 rs_80358543

9 SubmittersRCV000113124RCV000485157RCV000637724RCV001184520RCV001849311RCV003460790
NM_000059.4(BRCA2):c.3446T>C (p.Met1149Thr) SNV
Germline		 Chr13:32337801 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA018041 rs_80358590

11 SubmittersRCV000113177RCV000213389RCV001321107RCV003229809
NM_000059.4(BRCA2):c.3526G>A (p.Val1176Ile) SNV
Germline		 Chr13:32337881 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA018256 rs_80358602

7 SubmittersRCV000113189RCV000221053RCV000637690RCV003477487
NM_000059.4(BRCA2):c.3999C>G (p.Asn1333Lys) SNV
Germline		 Chr13:32338354 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA019346 rs_80358649

6 SubmittersRCV000113256RCV000637386RCV001176138
NM_000059.4(BRCA2):c.4027A>G (p.Lys1343Glu) SNV
Germline		 Chr13:32338382 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019411 rs_483353114

5 SubmittersRCV000113262RCV000563477RCV000820321
NM_000059.4(BRCA2):c.4417A>G (p.Asn1473Asp) SNV
Germline		 Chr13:32338772 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020152 rs_80358675

5 SubmittersRCV000113301RCV000216560RCV002298472RCV003764805
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly) SNV
Germline		 Chr13:32338833 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
not specified		 Criteria Provided
Conflicting Classifications
 CA020265 rs_80358679

10 SubmittersRCV000113308RCV000218014RCV000509781RCV000556739RCV000763887RCV001553670
NM_000059.4(BRCA2):c.4535G>C (p.Arg1512Pro) SNV
Germline		 Chr13:32338890 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020353 rs_80358685

6 SubmittersRCV000113314RCV000507478RCV001022661RCV001854525
NM_000059.4(BRCA2):c.5153A>G (p.Asn1718Ser) SNV
Germline		 Chr13:32339508 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA021401 rs_80358739

11 SubmittersRCV000113388RCV000486901RCV000570495RCV000801842RCV002281930
NM_000059.4(BRCA2):c.5378A>G (p.Asn1793Ser) SNV
Germline		 Chr13:32339733 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA022157 rs_80358759

9 SubmittersRCV000113424RCV000226446RCV000573455RCV000612467
NM_000059.4(BRCA2):c.5682C>A (p.Tyr1894Ter) SNV
Germline		 Chr13:32340037 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA022957 rs_41293497

10 SubmittersRCV000113461RCV000131119RCV000496632RCV000506842RCV003474700
NM_000059.4(BRCA2):c.5686G>C (p.Ala1896Pro) SNV
Germline		 Chr13:32340041 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022980 rs_80358795

4 SubmittersRCV000113462RCV000818625RCV002345410
NM_000059.4(BRCA2):c.5710C>T (p.Leu1904Phe) SNV
Germline		 Chr13:32340065 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023027 rs_55875643

6 SubmittersRCV000113465RCV000522965RCV002345411RCV003105789
NM_000059.4(BRCA2):c.5743A>G (p.Thr1915Ala) SNV
Germline		 Chr13:32340098 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023129 rs_80358802

4 SubmittersRCV000113475RCV000160099RCV001854527RCV003157405
NM_000059.4(BRCA2):c.5768A>T (p.Asp1923Val) SNV
Germline		 Chr13:32340123 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023194 rs_45491005

5 SubmittersRCV000113480RCV000220914RCV001024502RCV001854528
NM_000059.4(BRCA2):c.5987C>T (p.Ala1996Val) SNV
Germline		 Chr13:32340342 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023465 rs_80358834

4 SubmittersRCV000113516RCV002354288RCV003764806
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys) SNV
Germline		 Chr13:32340413 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA023575 rs_80358842

14 SubmittersRCV000113521RCV000160106RCV000129466RCV000471466RCV000587558RCV001354010
NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter) SNV
Germline		 Chr13:32341000 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA024254 rs_80358892

8 SubmittersRCV000113621RCV000490731RCV000690837RCV000657768RCV001025493
NM_000059.4(BRCA2):c.7977-1G>T SNV
Germline		 Chr13:32363178 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025373 rs_81002874

4 SubmittersRCV000113850RCV000197791RCV000580992
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro) SNV
Germline		 Chr13:32363390 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025499 rs_80359066

9 SubmittersRCV000113886RCV000131217RCV000456410RCV000586658RCV003460792
NM_000059.4(BRCA2):c.8525G>T (p.Arg2842Leu) SNV
Germline		 Chr13:32370993 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025693 rs_80359105

7 SubmittersRCV000113954RCV000130831RCV000176023RCV000526300RCV001175445
NM_000059.4(BRCA2):c.8969G>A (p.Trp2990Ter) SNV
Germline		 Chr13:32379765 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA025903 rs_80359148

9 SubmittersRCV000114025RCV000131050RCV000637796RCV000425086RCV003474704
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro) SNV
Germline		 Chr13:32379878 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025963 rs_80359161

9 SubmittersRCV000114042RCV000129295RCV000758971RCV001055261RCV001568367RCV003460793
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val) SNV
Germline		 Chr13:32380116 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition		 Reviewed By Expert Panel
 CA026041 rs_80359187

8 SubmittersRCV000114070RCV000130070RCV000472340RCV004566991
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) SNV
Germline		 Chr16:23635545 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
not specified
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
PALB2-related disorder		 Criteria Provided
Conflicting Classifications
 CA288383 rs_200620434

19 SubmittersRCV000114449RCV000116060RCV000212784RCV000415191RCV000781695RCV001798290RCV003483471RCV004529916
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) SNV
Germline		 Chr16:23635519 Pathogenic Breast cancer, susceptibility to
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA151215 rs_180177097

10 SubmittersRCV000144519RCV000215551RCV001040014RCV001030193RCV003155912
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) SNV
Germline		 Chr16:23635296 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA288398 rs_45510998

19 SubmittersRCV000114466RCV000116065RCV000590540RCV001255214RCV003483472
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) SNV
Germline		 Chr16:23637865 Pathogenic/Likely pathogenic Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA187393 rs_180177083

16 SubmittersRCV000114503RCV000235795RCV000163078RCV000588616RCV001798296
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter) SNV
Germline		 Chr16:23629831 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast cancer, susceptibility to
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA192039 rs_180177111

13 SubmittersRCV000114521RCV000164897RCV000144702RCV001355683RCV000413982RCV003155914
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu) SNV
Germline		 Chr16:23641135 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
PALB2-related disorder		 Criteria Provided
Conflicting Classifications
 CA299799 rs_150390726

11 SubmittersRCV000114527RCV000160872RCV000589826RCV002225301RCV004529922
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) SNV
Germline		 Chr16:23621362 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast cancer, susceptibility to
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 5
NICE approved PARP inhibitor treatment
Inherited breast cancer and ovarian cancer
Inherited ovarian cancer (without breast cancer)
PALB2-related disorder
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA251004 rs_180177132

29 SubmittersRCV000114591RCV000116096RCV000144703RCV000212822RCV001171469RCV000588093RCV001535480RCV003389455RCV004577322RCV004584191RCV004584192RCV004528792RCV003492443
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) SNV
Germline		 Chr16:23607958 Pathogenic/Likely pathogenic Pancreatic cancer, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Gastric cancer
Breast-ovarian cancer, familial, susceptibility to, 5
Malignant tumor of breast
Breast and/or ovarian cancer
PALB2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA211207 rs_587776527

22 SubmittersRCV000114612RCV000160853RCV000168017RCV000212825RCV001030644RCV002490767RCV003162531RCV003315406RCV002307393RCV003149788RCV004528793
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met) SNV
Germline		 Chr16:23607907 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA288475 rs_201657283

13 SubmittersRCV000114616RCV000116103RCV000212827RCV000656941RCV001030643
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) SNV
Germline		 Chr16:23636146 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA163622 rs_139555085

16 SubmittersRCV000114637RCV000128994RCV000200990RCV000590187RCV001798302RCV002225308
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) SNV
Germline		 Chr16:23638125 Conflicting classifications of pathogenicity Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA161315 rs_138789658

24 SubmittersRCV000114647RCV000121743RCV000129207RCV000376271RCV000440737RCV002225309
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) SNV
Germline		 Chr16:23635917 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group N
Malignant tumor of breast
Breast and/or ovarian cancer
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA161333 rs_57605939

22 SubmittersRCV000114650RCV000131969RCV000121750RCV000306267RCV001358034RCV001798303RCV001705820RCV002225310
NM_000051.4(ATM):c.125A>G (p.His42Arg) SNV
Germline		 Chr11:108227828 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Ovarian cancer
Breast and/or ovarian cancer
Familial cancer of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA286723 rs_201773026

13 SubmittersRCV000115139RCV000211940RCV000231946RCV001030450RCV001358550RCV003153366RCV003492452RCV003315633RCV001719857
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) SNV
Germline		 Chr11:108252824 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
ATM-related disorder		 Criteria Provided
Conflicting Classifications
 CA157068 rs_2227922

36 SubmittersRCV000115147RCV000120119RCV000122824RCV000590282RCV001197813RCV001356948RCV001374543RCV001798309RCV004549541
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr) SNV
Germline		 Chr11:108272743 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA204829 rs_370282831

9 SubmittersRCV000115172RCV000211995RCV000465718RCV000515253RCV001249849RCV000779787RCV003467024
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) SNV
Germline		 Chr11:108229312 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of breast
not specified
Hereditary breast ovarian cancer syndrome
ATM-related disorder		 Criteria Provided
Conflicting Classifications
 CA286800 rs_142358238

16 SubmittersRCV000115173RCV000198992RCV000589242RCV000515352RCV001357199RCV001260261RCV002225317RCV004549546
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) SNV
Germline		 Chr11:108235672 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
ATM-related disorder		 Criteria Provided
Conflicting Classifications
 CA286806 rs_146382972

14 SubmittersRCV000115175RCV000211948RCV000195412RCV000515264RCV000588561RCV001354149RCV002225318RCV004549547
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) SNV
Germline		 Chr11:108289689 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
ATM-related disorder		 Criteria Provided
Conflicting Classifications
 CA286840 rs_201666889

23 SubmittersRCV000115190RCV000168302RCV000515173RCV000586538RCV000855627RCV001257491RCV001355810RCV003482131RCV003149793RCV004549551
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) SNV
Germline		 Chr11:108289767 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA157119 rs_369903995

12 SubmittersRCV000115194RCV000120138RCV000199082RCV000656760RCV001249853RCV003467026
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) SNV
Germline		 Chr11:108289779 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA286849 rs_539676759

16 SubmittersRCV000115195RCV000206408RCV000515407RCV000588453RCV001257473RCV002225319RCV002509222RCV003492458
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala) SNV
Germline		 Chr11:108299797 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
ATM-related disorder		 Criteria Provided
Conflicting Classifications
 CA286873 rs_142455912

10 SubmittersRCV000115205RCV000200336RCV000212027RCV000779803RCV000515379RCV001354115RCV002225320RCV001798319RCV004549556
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) SNV
Germline		 Chr11:108312467 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary cancer
ATM-related disorder
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA286913 rs_150757822

26 SubmittersRCV000115220RCV000122863RCV000212036RCV000515391RCV000588284RCV001358376RCV003492461RCV003492462RCV004549560RCV003482132
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) SNV
Germline		 Chr11:108315883 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
Breast and/or ovarian cancer
Tip-toe gait
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA157150 rs_11212587

31 SubmittersRCV000115221RCV000120151RCV000122864RCV000513642RCV001798320RCV002225322RCV002225321RCV001253480RCV001356569
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) SNV
Germline		 Chr11:108316091 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer
ATM-related disorder		 Criteria Provided
Conflicting Classifications
 CA286928 rs_144761622

13 SubmittersRCV000115226RCV000196722RCV000212040RCV000588663RCV002225323RCV003492463RCV004549562
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) SNV
Germline		 Chr11:108321391 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer
ATM-related disorder		 Criteria Provided
Conflicting Classifications
 CA286937 rs_138828590

12 SubmittersRCV000115230RCV000196735RCV000212044RCV000587205RCV002225324RCV003492464RCV004549564
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) SNV
Germline		 Chr11:108327657 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
ATM-related disorder
Hereditary breast ovarian cancer syndrome
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA286954 rs_148432863

19 SubmittersRCV000115238RCV000122882RCV000212054RCV000587802RCV004549566RCV002225325RCV003492466
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) SNV
Germline		 Chr11:108330219 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
ATM-related disorder		 Criteria Provided
Conflicting Classifications
 CA286975 rs_147604227

14 SubmittersRCV000115246RCV000200256RCV000515201RCV000589408RCV001260260RCV002225326RCV001354272RCV004549569
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) SNV
Germline		 Chr11:108365423 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
ATM-related disorder
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA287042 rs_201199629

24 SubmittersRCV000115274RCV000198158RCV000212098RCV001535462RCV000780893RCV001374551RCV002288591RCV004549574RCV003492468
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) SNV
Germline		 Chr11:108247060 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA157204 rs_28904919

28 SubmittersRCV000115277RCV000120169RCV000586032RCV000988648RCV001262803RCV001798328RCV002225327
NM_000136.3(FANCC):c.1001G>A (p.Arg334Gln) SNV
Germline		 Chr9:95117386 Conflicting classifications of pathogenicity Condition: not provided
Fanconi anemia
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA287178 rs_377468919

5 SubmittersRCV000115339RCV000630863RCV001030468RCV001009634
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) SNV
Germline		 Chr2:214745842 Pathogenic Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
BARD1-related disorder
Hereditary breast ovarian cancer syndrome
Triple-Negative Breast Cancer Finding
Breast and/or ovarian cancer
Endometrial carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA287518 rs_587780021

24 SubmittersRCV000205536RCV000212135RCV000115616RCV003415888RCV000588742RCV000678225RCV001270956RCV003128144
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) SNV
Germline		 Chr2:214728819 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA287535 rs_76744638

15 SubmittersRCV000115628RCV000197435RCV000679341RCV001354852RCV001818273RCV002225328RCV003492478RCV003492479
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser) SNV
Germline		 Chr2:214781033 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA287560 rs_200059956

14 SubmittersRCV000226615RCV000572061RCV000656771RCV001526799RCV002307395
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) SNV
Germline		 Chr7:5987596 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Lynch syndrome 4
PMS2-related disorder
Lynch syndrome		 Criteria Provided
Conflicting Classifications
 CA009271 rs_587780039

10 SubmittersRCV000115651RCV000212859RCV000229947RCV001030722RCV001199850RCV003467050RCV003421993RCV003997284
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) SNV
Germline/somatic		 Chr17:7675140 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000225 rs_587780068

11 SubmittersRCV000115723RCV000508084RCV000533951RCV001255633RCV002288596RCV003483477
NM_000546.6(TP53):c.91G>A (p.Val31Ile) SNV
Germline		 Chr17:7676387 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
TP53-related disorder		 Criteria Provided
Conflicting Classifications
 CA357868 rs_201753350

16 SubmittersRCV000115742RCV000122173RCV000123100RCV000409871RCV001030741RCV000586196RCV003492490RCV003945046
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) SNV
Germline		 Chr8:89978299 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia
Hereditary breast ovarian cancer syndrome
not specified
NBN-related disorder		 Criteria Provided
Conflicting Classifications
 CA287937 rs_182756889

13 SubmittersRCV000115796RCV000123218RCV000587269RCV000764786RCV001030567RCV001549273RCV003389690
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) SNV
Germline		 Chr17:35118618 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA287959 rs_140317560

15 SubmittersRCV000115809RCV000204912RCV000587212RCV000709452RCV003150944
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) SNV
Germline		 Chr17:35103298 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary breast ovarian cancer syndrome
Neoplasm of ovary
Breast and/or ovarian cancer
Colorectal cancer
Diffuse midline glioma, H3 K27-altered
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA287986 rs_587780104

23 SubmittersRCV000115819RCV000212965RCV000410860RCV000586822RCV000785237RCV001271051RCV002463640RCV003313779RCV003162542
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) SNV
Germline		 Chr17:35101008 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified
Breast and/or ovarian cancer
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA287993 rs_145309168

17 SubmittersRCV000115822RCV000233793RCV000656967RCV000709427RCV001354391RCV001818279RCV003149804RCV003492497
NM_002878.4(RAD51D):c.973G>A (p.Gly325Ser) SNV
Germline		 Chr17:35100967 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary breast ovarian cancer syndrome
Condition: not provided
RAD51D-related disorder		 Criteria Provided
Conflicting Classifications
 CA287999 rs_587780106

11 SubmittersRCV000115824RCV000571425RCV000554021RCV000709426RCV000656968RCV003415892
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) SNV
Germline		 Chr5:132588729 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Nijmegen breakage syndrome-like disorder
Hereditary breast ovarian cancer syndrome
not specified
Nijmegen breakage syndrome-like disorder
Familial cancer of breast
Ovarian cancer
RAD50-related disorder
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA331855 rs_146370443

14 SubmittersRCV000115926RCV000212907RCV000515281RCV001030501RCV001199877RCV001535589RCV003153375RCV003407501RCV003242983
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) SNV
Germline		 Chr5:132588846 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Nijmegen breakage syndrome-like disorder
Hereditary breast ovarian cancer syndrome
not specified
RAD50-related disorder		 Criteria Provided
Conflicting Classifications
 CA331857 rs_200017020

9 SubmittersRCV000115928RCV000212908RCV000409378RCV001030502RCV001818281RCV003894952
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) SNV
Germline/somatic		 Chr22:28695858 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Breast neoplasm
Malignant tumor of breast
Familial cancer of breast
Neoplasm of ovary
Lung cancer
Hereditary breast ovarian cancer syndrome
Bone osteosarcoma
CHEK2-related disorder
Li-Fraumeni syndrome 2
Bone osteosarcoma
Malignant tumor of prostate
Familial cancer of breast
Colorectal cancer		 Criteria Provided
Conflicting Classifications
 CA288254 rs_531398630

18 SubmittersRCV000115982RCV000212449RCV000197709RCV000656834RCV000677873RCV001355387RCV001527478RCV001030625RCV003448266RCV004529939RCV002477284
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) SNV
Germline		 Chr22:28695789 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA288262 rs_587780169

11 SubmittersRCV000115986RCV000228584RCV000212453RCV001356701RCV003226200RCV003483480
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) SNV
Germline		 Chr22:28695190 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Li-Fraumeni syndrome 2
Bone osteosarcoma
Malignant tumor of prostate
Familial cancer of breast
Malignant tumor of breast
Li-Fraumeni syndrome 2
Carcinoma of colon
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
CHEK2-related disorder
Hereditary cancer
CHEK2-related cancer predisposition		 Criteria Provided
Conflicting Classifications
 CA151527 rs_200050883

33 SubmittersRCV000115996RCV000200982RCV000199565RCV000587890RCV000515311RCV001269492RCV001294021RCV001356041RCV001798350RCV003483481RCV004528803RCV003492502RCV004556724
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) SNV
Germline		 Chr22:28687974 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast and colorectal cancer, susceptibility to
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Li-Fraumeni syndrome 2
Breast and/or ovarian cancer
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA288290 rs_200432447

18 SubmittersRCV000116005RCV000210124RCV000212474RCV000589100RCV000471222RCV001705822RCV001798352RCV003162543
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) SNV
Germline		 Chr22:28734532 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and colorectal cancer, susceptibility to
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 2
Predisposition to cancer
CHEK2-related cancer predisposition
CHEK2-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA288298 rs_141568342

32 SubmittersRCV000116009RCV000199067RCV000212407RCV000210191RCV001356247RCV001270935RCV002265610RCV003338414RCV003153376RCV004556726RCV004528806RCV002465520
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) SNV
Germline		 Chr22:28725338 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Breast cancer, susceptibility to
RECLASSIFIED - CDH1 POLYMORPHISM
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 2
Breast and/or ovarian cancer
Predisposition to cancer
Li-Fraumeni syndrome 2
Bone osteosarcoma
Malignant tumor of prostate
Familial cancer of breast
Colorectal cancer
CHEK2-related cancer predisposition
CHEK2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA288301 rs_28909982

41 SubmittersRCV000116012RCV000204429RCV000212414RCV001263516RCV001258041RCV001374534RCV001787918RCV001798355RCV001526815RCV002498498RCV004556728RCV003114263
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) SNV
Germline		 Chr22:28725031 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Malignant tumor of prostate
Condition: not provided
Hereditary breast ovarian cancer syndrome
CHEK2-related disorder
Breast and/or ovarian cancer
CHEK2-related cancer predisposition		 Criteria Provided
Conflicting Classifications
 CA288318 rs_77130927

27 SubmittersRCV000116024RCV000196561RCV000212426RCV000490304RCV000588124RCV001030689RCV004529943RCV001798358RCV004556732
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) SNV
Germline		 Chr22:28699929 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 2
Malignant tumor of breast
Carcinoma of pancreas
Colonic neoplasm
not specified
CHEK2-related cancer predisposition
Inherited breast cancer and ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA288331 rs_587780192

19 SubmittersRCV000116033RCV000212440RCV000228767RCV001192409RCV001251038RCV001355901RCV001391209RCV001579302RCV003320458RCV004556733RCV004584194
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) SNV
Germline		 Chr16:23635306 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Gastric cancer
PALB2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA288395 rs_180177100

24 SubmittersRCV000116064RCV000123331RCV000254674RCV000588541RCV001354096RCV002477287RCV004555854RCV003162546RCV004529946
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) SNV
Germline		 Chr16:23629645 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group N
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
PALB2-related disorder		 Criteria Provided
Conflicting Classifications
 CA161349 rs_587778587

17 SubmittersRCV000116087RCV000121758RCV000318539RCV000656936RCV000989556RCV001030647RCV001356207RCV001798359RCV004529947
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) SNV
Germline		 Chr16:23603471 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 1
PALB2-related disorder		 Reviewed By Expert Panel
 CA288488 rs_118203998

21 SubmittersRCV000116108RCV000200012RCV000212831RCV000587765RCV000763376RCV003493446RCV004528809
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) SNV
Germline		 Chr17:61685911 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Neoplasm of ovary
Condition: not provided
Fanconi anemia complementation group J
not specified
Hereditary breast ovarian cancer syndrome
BRIP1-related disorder
Familial cancer of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA288570 rs_140233356

15 SubmittersRCV000116149RCV000199089RCV000409338RCV000585934RCV000411198RCV000855583RCV001030467RCV004529951RCV003315655RCV003492507
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) SNV
Germline		 Chr17:61847141 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Fanconi anemia complementation group J
Breast and/or ovarian cancer
Cervical cancer
BRIP1-related disorder		 Criteria Provided
Conflicting Classifications
 CA288606 rs_550707862

14 SubmittersRCV000116163RCV000235147RCV000586611RCV001082539RCV001030546RCV001356416RCV001127949RCV003149814RCV001356235RCV004529954
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) SNV
Germline		 Chr17:58696794 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Malignant tumor of breast
not specified
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA288624 rs_587780256

17 SubmittersRCV000116175RCV000199007RCV000412269RCV000588889RCV001358061RCV002267859RCV003492509RCV004556053
NM_058216.3(RAD51C):c.571+4A>G SNV
Germline		 Chr17:58696863 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Breast and/or ovarian cancer
RAD51C-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA331904 rs_587780257

12 SubmittersRCV000116176RCV000206409RCV000212940RCV000709506RCV000662721RCV001356484RCV001798364RCV004529956RCV003323404
NM_058216.3(RAD51C):c.706-2A>G SNV
Germline		 Chr17:58709857 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Neoplasm of ovary
Hereditary breast ovarian cancer syndrome
RAD51C-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA288628 rs_587780259

22 SubmittersRCV000116178RCV000234445RCV000456123RCV000254687RCV000576612RCV000785234RCV001194262RCV004528814
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) SNV
Germline		 Chr17:58709943 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia complementation group O
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
RAD51C-related disorder		 Criteria Provided
Conflicting Classifications
 CA208307 rs_147241704

30 SubmittersRCV000116180RCV000194252RCV000515761RCV000662625RCV000709513RCV000487827RCV000989962RCV001270343RCV001798366RCV002272129RCV004528815
NM_000059.4(BRCA2):c.2598A>T (p.Glu866Asp) SNV
Germline		 Chr13:32336953 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA015772 rs_587780549

4 SubmittersRCV000119197RCV000129897
NM_000051.4(ATM):c.162T>C (p.Tyr54=) SNV
Germline		 Chr11:108227865 Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA289553 rs_3218690

30 SubmittersRCV000119217RCV000123737RCV000211941RCV000415913RCV001262812RCV001798375RCV002225353
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) SNV
Germline		 Chr11:108304736 Conflicting classifications of pathogenicity not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome		 Criteria Provided
Conflicting Classifications
 CA157135 rs_1801673

34 SubmittersRCV000120145RCV000122859RCV000128902RCV000513231RCV001262813RCV001358294RCV001798378RCV002225361RCV003224156
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) SNV
Germline		 Chr11:108320043 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA157159 rs_56815840

21 SubmittersRCV000120154RCV000131611RCV000710676RCV001080465RCV002225364RCV003315729RCV003149825
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) SNV
Germline		 Chr11:108333946 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
ATM-related disorder		 Criteria Provided
Conflicting Classifications
 CA157177 rs_377648506

12 SubmittersRCV000120160RCV000214426RCV000231221RCV000656763RCV002225366RCV003315730RCV004551180
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) SNV
Germline		 Chr15:90769196 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Bloom syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA157382 rs_55880859

10 SubmittersRCV000120226RCV000568596RCV000628631RCV001030455
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) SNV
Germline		 Chr15:90749446 Conflicting classifications of pathogenicity not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome
Microcephaly
Hereditary breast ovarian cancer syndrome
Condition: not provided
BLM-related disorder		 Criteria Provided
Conflicting Classifications
 CA157427 rs_138542210

11 SubmittersRCV000120241RCV000330317RCV000562376RCV001252853RCV001030679RCV001800407RCV003915190
NM_007294.4(BRCA1):c.2330A>G (p.Tyr777Cys) SNV
Germline		 Chr17:43093201 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001556 rs_587778116

3 SubmittersRCV000120272RCV003157408RCV003529988
NM_007294.4(BRCA1):c.3277G>T (p.Val1093Phe) SNV
Germline		 Chr17:43092254 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA002115 rs_587778117

6 SubmittersRCV000120294RCV000580031RCV001045571RCV003997338
NM_007294.4(BRCA1):c.787G>A (p.Gly263Ser) SNV
Germline		 Chr17:43094744 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003868 rs_397509318

4 SubmittersRCV000120297RCV001026905RCV001045456
NM_000059.4(BRCA2):c.1742C>T (p.Ser581Phe) SNV
Germline		 Chr13:32333220 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA013031 rs_587778118

6 SubmittersRCV000120307RCV000223160RCV000476382RCV003997339
NM_000059.4(BRCA2):c.2892A>T (p.Lys964Asn) SNV
Germline		 Chr13:32337247 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA016692 rs_587778119

11 SubmittersRCV000120315RCV000238991RCV000557314RCV000771211RCV001353978RCV001704033
NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val) SNV
Germline		 Chr13:32339565 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021701 rs_587778120

11 SubmittersRCV000120322RCV000410599RCV000571871RCV000586512RCV000699007
NM_000059.4(BRCA2):c.5230A>G (p.Ser1744Gly) SNV
Germline		 Chr13:32339585 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021808 rs_587778121

7 SubmittersRCV000120323RCV000563678RCV001039614RCV003477498
NM_000059.4(BRCA2):c.3485C>T (p.Ala1162Val) SNV
Germline		 Chr13:32337840 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA018151 rs_587778122

8 SubmittersRCV000120325RCV000773046RCV001556658RCV001854598RCV002466433
NM_000059.4(BRCA2):c.6112C>T (p.His2038Tyr) SNV
Germline		 Chr13:32340467 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA023663 rs_587778123

6 SubmittersRCV000120332RCV000165227RCV000467109RCV003997340
NM_000059.4(BRCA2):c.3358G>C (p.Glu1120Gln) SNV
Germline		 Chr13:32337713 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA017857 rs_587778124

6 SubmittersRCV000120337RCV000465787RCV001191385RCV003477499
NM_000059.4(BRCA2):c.2471T>C (p.Leu824Ser) SNV
Germline		 Chr13:32336826 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA015397 rs_397507631

8 SubmittersRCV000120343RCV000130598RCV000476153RCV003153385RCV003997341
NM_000059.4(BRCA2):c.2515T>C (p.Tyr839His) SNV
Germline		 Chr13:32336870 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA015518 rs_587778125

8 SubmittersRCV000120344RCV000220257RCV000686331RCV003607240RCV003997342
NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala) SNV
Germline		 Chr13:32339766 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022272 rs_370252983

13 SubmittersRCV000120347RCV000129811RCV000685972RCV000624983RCV000766625
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro) SNV
Germline		 Chr13:32319266 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA015684 rs_572782576

12 SubmittersRCV000120383RCV000234582RCV000564505RCV000766592RCV000662463
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) SNV
Germline		 Chr17:61743068 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary breast ovarian cancer syndrome
Neoplasm of ovary
Fanconi anemia complementation group J
Breast and/or ovarian cancer
Ovarian cancer
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA157695 rs_571108955

16 SubmittersRCV000120397RCV000165749RCV000475545RCV000656813RCV001030536RCV000663063RCV003492523RCV003153386RCV003315735
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) SNV
Germline		 Chr17:61716003 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Fanconi anemia complementation group J
Condition: not provided
Malignant tumor of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA157701 rs_201869624

18 SubmittersRCV000120399RCV000131535RCV000662392RCV000588835RCV001356698RCV000709540RCV001030535RCV001083712RCV003315736RCV003492524
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) SNV
Germline		 Chr8:89953684 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary breast ovarian cancer syndrome
NBN-related disorder
Aplastic anemia		 Criteria Provided
Conflicting Classifications
 CA160966 rs_148205441

13 SubmittersRCV000121613RCV000129788RCV000167890RCV000588734RCV002225383RCV003389699RCV003474728
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) SNV
Germline		 Chr7:5999215 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA012369 rs_587778620

8 SubmittersRCV000121858RCV000570676RCV000412111RCV001030724RCV001244956RCV003153398
NM_000546.6(TP53):c.605G>A (p.Arg202His) SNV
Germline		 Chr17:7674926 Conflicting classifications of pathogenicity not specified
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA000289 rs_587778719

7 SubmittersRCV000122175RCV000459232RCV000567735RCV001030735RCV001358628
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) SNV
Germline		 Chr11:108292655 Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA289569 rs_4988008

28 SubmittersRCV000122850RCV000123748RCV000212018RCV000587530RCV001354679RCV001798393RCV002225390
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) SNV
Germline		 Chr11:108365152 Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA185963 rs_139379666

17 SubmittersRCV000122894RCV000159668RCV000200970RCV001030606RCV000780903RCV001356215RCV001798400
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg) SNV
Germline		 Chr13:32333316 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA013524 rs_587780646

11 SubmittersRCV000122900RCV000129425RCV000221850RCV000238635RCV001358539RCV000985248RCV004530045
NM_000059.4(BRCA2):c.4081C>G (p.Gln1361Glu) SNV
Germline		 Chr13:32338436 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA019486 rs_587780652

4 SubmittersRCV000122910RCV001021825RCV000779933
NM_000059.4(BRCA2):c.5045G>C (p.Ser1682Thr) SNV
Germline		 Chr13:32339400 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA021177 rs_41293493

3 SubmittersRCV000122913RCV002336268
NM_000059.4(BRCA2):c.6176G>A (p.Ser2059Asn) SNV
Germline		 Chr13:32340531 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA023720 rs_587780657

8 SubmittersRCV000131374RCV000122921RCV003441746RCV002228445RCV003997393
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn) SNV
Germline		 Chr13:32340586 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA023776 rs_541826447

11 SubmittersRCV000222718RCV000412472RCV000588715RCV001087043RCV002267862
NM_000059.4(BRCA2):c.67+16A>T SNV
Germline		 Chr13:32316543 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024324 rs_529148674

4 SubmittersRCV000175513RCV000662683RCV000724355RCV001078608
NM_000059.4(BRCA2):c.7559G>C (p.Arg2520Pro) SNV
Germline		 Chr13:32356551 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025148 rs_80358982

6 SubmittersRCV000122929RCV000214969RCV000479153RCV000985588
NM_000059.4(BRCA2):c.9872C>G (p.Ser3291Cys) SNV
Germline		 Chr13:32398385 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA026318 rs_200210279

7 SubmittersRCV000122939RCV000129292RCV000480317RCV002265612RCV003493449
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile) SNV
Germline		 Chr2:47801134 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Breast and/or ovarian cancer
MSH6-related disorder		 Criteria Provided
Conflicting Classifications
 CA011639 rs_576269342

14 SubmittersRCV000132157RCV000408980RCV000588824RCV001030498RCV001796965RCV001257068RCV001355067RCV003492535RCV004528840
NM_007294.4(BRCA1):c.1196A>G (p.His399Arg) SNV
Germline		 Chr17:43094335 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA000787 rs_587780794

3 SubmittersRCV000123266RCV000563126
NM_007294.4(BRCA1):c.81-2A>C SNV
Germline		 Chr17:43115781 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003911 rs_397509326

6 SubmittersRCV000123286RCV000985449RCV001072442RCV001524170
NM_032043.3(BRIP1):c.1629-3T>C SNV
Germline		 Chr17:61781008 Conflicting classifications of pathogenicity Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA294179 rs_587780828

10 SubmittersRCV000123350RCV000130219RCV000212313RCV003144134RCV003477525RCV003483490
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala) SNV
Germline		 Chr17:61808607 Conflicting classifications of pathogenicity Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA298928 rs_138743097

11 SubmittersRCV000123365RCV000160362RCV000586716RCV001125839RCV002267867RCV002225394RCV003149846
NM_058216.3(RAD51C):c.146-8A>G SNV
Germline		 Chr17:58694923 Conflicting classifications of pathogenicity Fanconi anemia complementation group O
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA293025 rs_201079501

16 SubmittersRCV000123369RCV000127688RCV000409786RCV000579930RCV000662404RCV001815236RCV002509230RCV003149847
NM_000051.4(ATM):c.5497-15G>C SNV
Germline		 Chr11:108304660 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA289575 rs_3092828

20 SubmittersRCV000123750RCV000447093RCV001103816RCV001358583RCV001689673RCV003315838RCV002225399RCV003149850
NM_007294.4(BRCA1):c.671-8A>G SNV
Germline		 Chr17:43094868 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003807 rs_80358144

12 SubmittersRCV000123888RCV000112769RCV000580371RCV000588347RCV001087483
NM_000059.4(BRCA2):c.6937+13T>G SNV
Germline		 Chr13:32344666 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA024576 rs_587780868

4 SubmittersRCV000123986RCV001089140RCV000588952RCV000773093
NM_000059.4(BRCA2):c.8332-6G>T SNV
Germline		 Chr13:32370396 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025589 rs_587780872

8 SubmittersRCV000124008RCV000456541RCV000580592RCV000663037RCV003477532RCV004530070
NM_002485.5(NBN):c.38-10T>A SNV
Germline		 Chr8:89982865 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA292412 rs_556807466

10 SubmittersRCV000127085RCV000200594RCV000733762RCV002225409
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) SNV
Germline		 Chr22:28734439 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of prostate
Familial cancer of breast
Li-Fraumeni syndrome 2
Colorectal cancer
Bone osteosarcoma
CHEK2-related cancer predisposition
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA163528 rs_587781269

20 SubmittersRCV000128901RCV000215973RCV000232015RCV001002335RCV001354537RCV002225419RCV002505102RCV004556738RCV003162571
NM_007294.4(BRCA1):c.1705A>G (p.Asn569Asp) SNV
Germline		 Chr17:43093826 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001119 rs_587781315

4 SubmittersRCV000129047RCV000506697RCV000814648
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) SNV
Germline		 Chr17:58703201 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
RAD51C-related disorder
Breast carcinoma
Breast-ovarian cancer, familial, susceptibility to, 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA333162 rs_200293302

17 SubmittersRCV000129056RCV000203684RCV000212943RCV000576579RCV000590531RCV000778126RCV001554248RCV002288621
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) SNV
Germline		 Chr17:61780325 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Neoplasm of ovary
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Malignant tumor of breast
BRIP1-associated familial cancer predisposition		 Criteria Provided
Multiple Submitters
No Conflicts
 CA293947 rs_587781321

14 SubmittersRCV000129060RCV000228701RCV000254651RCV000576387RCV000589135RCV001781464RCV003315870RCV003387506RCV003335111
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val) SNV
Germline		 Chr13:32355184 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Malignant tumor of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA025033 rs_431825352

10 SubmittersRCV000129097RCV000471031RCV001001296RCV001357165RCV001576378RCV003997479
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr) SNV
Germline		 Chr2:214781101 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA333165 rs_146223579

11 SubmittersRCV000129102RCV000203950RCV000588107RCV001030670
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) SNV
Germline		 Chr11:108244874 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA293997 rs_56123940

16 SubmittersRCV000129173RCV000204231RCV000211952RCV001257469RCV001704053RCV002225424RCV001798434RCV003492586
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe) SNV
Germline		 Chr5:132642215 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Nijmegen breakage syndrome-like disorder
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA163953 rs_199579239

6 SubmittersRCV000129202RCV001030512RCV000662532RCV003153413
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) SNV
Germline		 Chr22:28711946 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of prostate
Familial cancer of breast
Li-Fraumeni syndrome 2
Bone osteosarcoma
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA163957 rs_587781379

11 SubmittersRCV000129204RCV000214585RCV000227256RCV000765620RCV001030685RCV001201286
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly) SNV
Germline		 Chr17:58692777 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
not specified
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA163967 rs_587781383

12 SubmittersRCV000129215RCV000167882RCV000409379RCV000588471RCV001778747RCV001798436RCV002509232
NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg) SNV
Germline		 Chr13:32340642 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA023823 rs_587781396

10 SubmittersRCV000129240RCV000472335RCV000759640RCV001260312RCV002272136
NM_000059.4(BRCA2):c.1070A>C (p.Glu357Ala) SNV
Germline		 Chr13:32332548 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA010740 rs_587781399

6 SubmittersRCV000129245RCV000507748RCV000552536RCV003493451
NM_000059.4(BRCA2):c.599C>T (p.Thr200Ile) SNV
Germline		 Chr13:32326581 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA023487 rs_587781402

9 SubmittersRCV000129253RCV000168233RCV001577607RCV002271413RCV003483493
NM_000059.4(BRCA2):c.4109G>A (p.Gly1370Asp) SNV
Germline		 Chr13:32338464 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019535 rs_587781406

3 SubmittersRCV000129259RCV001857436
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val) SNV
Germline		 Chr13:32363370 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Genetic non-acquired premature ovarian failure
Breast and/or ovarian cancer
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025485 rs_41293513

10 SubmittersRCV000129267RCV000216158RCV000205165RCV000770915RCV003492587RCV003474743
NM_000059.4(BRCA2):c.4567G>A (p.Gly1523Ser) SNV
Germline		 Chr13:32338922 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020470 rs_587781418

7 SubmittersRCV000129287RCV000506395RCV001204428
NM_000059.4(BRCA2):c.4068G>T (p.Leu1356Phe) SNV
Germline		 Chr13:32338423 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA019462 rs_28897724

7 SubmittersRCV000129289RCV000227395RCV000483121RCV003997492
NM_007294.4(BRCA1):c.2119G>C (p.Gly707Arg) SNV
Germline		 Chr17:43093412 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001397 rs_587781420

5 SubmittersRCV000129290RCV001214917RCV001800426
NM_000059.4(BRCA2):c.837C>G (p.Cys279Trp) SNV
Germline		 Chr13:32332315 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025616 rs_587781421

3 SubmittersRCV000129293RCV000206739
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn) SNV
Germline		 Chr13:32340379 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA023537 rs_56324666

9 SubmittersRCV000129322RCV000204438RCV000409077RCV000590592RCV001268978
NM_000059.4(BRCA2):c.869T>G (p.Val290Gly) SNV
Germline		 Chr13:32332347 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025786 rs_587781431

3 SubmittersRCV000129323RCV000470406
NM_000059.4(BRCA2):c.6745G>A (p.Ala2249Thr) SNV
Germline		 Chr13:32341100 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA024369 rs_587781435

5 SubmittersRCV000129329RCV000637376RCV003997494
NM_007294.4(BRCA1):c.2068A>G (p.Lys690Glu) SNV
Germline		 Chr17:43093463 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001366 rs_587781448

3 SubmittersRCV000129365RCV001069717
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu) SNV
Germline		 Chr13:32394865 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Fanconi anemia complementation group D1
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA026155 rs_587776476

11 SubmittersRCV000129373RCV000144220RCV000499802RCV001114170RCV001353675RCV001088631RCV004532550
NM_000059.4(BRCA2):c.5593A>G (p.Ile1865Val) SNV
Germline		 Chr13:32339948 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022664 rs_587781455

5 SubmittersRCV000129385RCV001849922RCV003313041
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter) SNV
Germline		 Chr13:32336694 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast		 Reviewed By Expert Panel
 CA014999 rs_587781471

15 SubmittersRCV000129415RCV000241405RCV000484555RCV000508058RCV001356658RCV002250567
NM_007294.4(BRCA1):c.5002T>A (p.Phe1668Ile) SNV
Germline		 Chr17:43067680 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003150 rs_587781472

3 SubmittersRCV000129418RCV001077429RCV001857438
NM_000059.4(BRCA2):c.6439C>T (p.His2147Tyr) SNV
Germline		 Chr13:32340794 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA024036 rs_587781476

7 SubmittersRCV000129424RCV000545796RCV000480281RCV003997500
NM_007294.4(BRCA1):c.5014C>T (p.His1672Tyr) SNV
Germline		 Chr17:43067668 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003153 rs_587781477

5 SubmittersRCV000129426RCV000793966RCV001077924RCV003477540
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg) SNV
Germline		 Chr13:32336629 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA014830 rs_142243359

10 SubmittersRCV000129440RCV000167883RCV000589431RCV000989010RCV001357461RCV000855637
NM_000059.4(BRCA2):c.2473A>G (p.Asn825Asp) SNV
Germline		 Chr13:32336828 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA015415 rs_587781483

4 SubmittersRCV000129442RCV000695548
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser) SNV
Germline		 Chr13:32357754 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA025200 rs_587781485

10 SubmittersRCV000129445RCV000161933RCV000656622RCV000662876RCV000781086
NM_000059.4(BRCA2):c.4140T>G (p.Ile1380Met) SNV
Germline		 Chr13:32338495 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA019602 rs_587781488

5 SubmittersRCV000129451RCV001046726RCV003234769
NM_007294.4(BRCA1):c.2750T>C (p.Ile917Thr) SNV
Germline		 Chr17:43092781 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA001812 rs_587781492

7 SubmittersRCV000129456RCV000697286RCV000759509RCV001175509
NM_000059.4(BRCA2):c.8651A>G (p.Tyr2884Cys) SNV
Germline		 Chr13:32376688 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025762 rs_587781494

3 SubmittersRCV000129459RCV000481920RCV000689857
NM_007294.4(BRCA1):c.799T>C (p.Ser267Pro) SNV
Germline		 Chr17:43094732 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA003882 rs_587781496

6 SubmittersRCV000129463RCV000475894RCV003453063
NM_000249.4(MLH1):c.704A>T (p.Asp235Val) SNV
Germline		 Chr3:37014458 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Ovarian cancer
Lynch syndrome		 Criteria Provided
Conflicting Classifications
 CA011774 rs_587781505

9 SubmittersRCV000129480RCV000529021RCV001030626RCV002285268RCV001290582RCV003153416RCV003997505
NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter) SNV
Germline		 Chr13:32362594 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Neoplasm of ovary
Breast carcinoma		 Reviewed By Expert Panel
 CA025317 rs_587781506

6 SubmittersRCV000129483RCV000195555RCV000240971RCV000785229RCV001579298
NM_000059.4(BRCA2):c.1232T>C (p.Ile411Thr) SNV
Germline		 Chr13:32332710 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA011259 rs_79597821

7 SubmittersRCV000129491RCV001174663RCV001343210RCV003159101RCV003997508
NM_000059.4(BRCA2):c.752C>G (p.Thr251Arg) SNV
Germline		 Chr13:32330989 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA025135 rs_587781513

8 SubmittersRCV000129492RCV000458997RCV000759660RCV001260439RCV003234770
NM_000455.5(STK11):c.566C>T (p.Thr189Ile) SNV
Germline		 Chr19:1220474 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of testis
Carcinoma of pancreas
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA023082 rs_587781515

13 SubmittersRCV000129498RCV000204187RCV000220770RCV000587196RCV001030732RCV000765431
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) SNV
Germline		 Chr22:28695794 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
Li-Fraumeni syndrome 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA164560 rs_373073383

15 SubmittersRCV000129508RCV000206654RCV000589481RCV001175352RCV001357703RCV003493452RCV003483495
NM_000059.4(BRCA2):c.4556C>G (p.Pro1519Arg) SNV
Germline		 Chr13:32338911 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA020427 rs_587781534

4 SubmittersRCV000129536RCV000637493RCV000508530
NM_000059.4(BRCA2):c.2490C>A (p.Asn830Lys) SNV
Germline		 Chr13:32336845 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA015457 rs_56331088

7 SubmittersRCV000129537RCV000168037RCV000411773RCV001578080
NM_000059.4(BRCA2):c.5590G>A (p.Asp1864Asn) SNV
Germline		 Chr13:32339945 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA022649 rs_587781536

7 SubmittersRCV000129542RCV000240784RCV000456720RCV000989040RCV002271414
NM_000059.4(BRCA2):c.6120A>G (p.Ile2040Met) SNV
Germline		 Chr13:32340475 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023674 rs_587781539

4 SubmittersRCV000129545RCV001849923RCV003159102
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter) SNV
Germline		 Chr13:32379837 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder
Familial cancer of breast		 Reviewed By Expert Panel
 CA025940 rs_80359156

10 SubmittersRCV000129551RCV000240993RCV000559907RCV000413054RCV004528851RCV004567088
NM_007294.4(BRCA1):c.-1A>C SNV
Germline		 Chr17:43124097 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001331 rs_587781565

3 SubmittersRCV000129589RCV001072287RCV002055842
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter) SNV
Germline		 Chr13:32337273 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA016767 rs_397507296

4 SubmittersRCV000129596RCV000241198RCV000688560
NM_000059.4(BRCA2):c.4892A>T (p.Lys1631Ile) SNV
Germline		 Chr13:32339247 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020958 rs_587781573

3 SubmittersRCV000129607RCV003529989
NM_000059.4(BRCA2):c.5465A>T (p.Asn1822Ile) SNV
Germline		 Chr13:32339820 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA022364 rs_587781580

8 SubmittersRCV000129617RCV000199798RCV000588979RCV001375483RCV003315878
NM_000059.4(BRCA2):c.6308C>G (p.Ser2103Ter) SNV
Germline		 Chr13:32340663 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA023846 rs_80358870

4 SubmittersRCV000129618RCV000241268RCV000657723RCV002512530
NM_000059.4(BRCA2):c.4886C>T (p.Thr1629Ile) SNV
Germline		 Chr13:32339241 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA020949 rs_587781581

4 SubmittersRCV000129619RCV001034948RCV003150948
NM_000059.4(BRCA2):c.1153A>G (p.Lys385Glu) SNV
Germline		 Chr13:32332631 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA010980 rs_80358411

5 SubmittersRCV000129633RCV000637741RCV002247506
NM_000059.4(BRCA2):c.971G>A (p.Arg324Lys) SNV
Germline		 Chr13:32332449 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026280 rs_397507435

9 SubmittersRCV000129650RCV000409872RCV000216915RCV000637477RCV000589361
NM_000059.4(BRCA2):c.4969A>G (p.Asn1657Asp) SNV
Germline		 Chr13:32339324 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021079 rs_587781599

6 SubmittersRCV000129665RCV000588301RCV000530830
NM_000059.4(BRCA2):c.4252A>G (p.Ile1418Val) SNV
Germline		 Chr13:32338607 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019793 rs_143667871

4 SubmittersRCV000129676RCV000815760
NM_000059.4(BRCA2):c.9119T>C (p.Val3040Ala) SNV
Germline		 Chr13:32380008 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025999 rs_587781606

5 SubmittersRCV000129686RCV000508531RCV000702465RCV001548512RCV003460900
NM_000059.4(BRCA2):c.6479A>G (p.Gln2160Arg) SNV
Germline		 Chr13:32340834 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA024096 rs_587781610

5 SubmittersRCV000129697RCV000700192RCV003483496
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) SNV
Germline		 Chr11:108303021 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial pancreatic carcinoma
not specified
ATM-related disorder		 Criteria Provided
Conflicting Classifications
 CA164960 rs_587781622

10 SubmittersRCV000129712RCV000199250RCV000590655RCV001030597RCV001357265RCV002307401RCV004551247
NM_000059.4(BRCA2):c.1909+1G>A SNV
Germline		 Chr13:32333388 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions
Gastric cancer
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA013828 rs_587781629

16 SubmittersRCV000129734RCV000160183RCV000204822RCV000210109RCV000238861RCV002492497RCV003162573RCV003474753
NM_007294.4(BRCA1):c.2905A>G (p.Asn969Asp) SNV
Germline		 Chr17:43092626 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001892 rs_587781641

5 SubmittersRCV000129768RCV000462250RCV003987369
NM_000059.4(BRCA2):c.2014A>G (p.Arg672Gly) SNV
Germline		 Chr13:32336369 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA014119 rs_587781647

7 SubmittersRCV000129778RCV000160042RCV000456158RCV001375553
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) SNV
Germline		 Chr22:28725084 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA165091 rs_587781652

9 SubmittersRCV000129786RCV000461401RCV000480654RCV000780181RCV003993818
NM_007294.4(BRCA1):c.4858A>G (p.Thr1620Ala) SNV
Germline		 Chr17:43071056 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA003055 rs_8176219

6 SubmittersRCV000129815RCV000555169RCV003997526RCV001375594
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) SNV
Germline		 Chr13:32357883 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Carcinoma of colon
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025261 rs_56335340

17 SubmittersRCV000129817RCV000160141RCV000229398RCV000411503RCV000416750RCV000587564RCV004544292
NM_000059.4(BRCA2):c.695A>G (p.Tyr232Cys) SNV
Germline		 Chr13:32330932 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA024642 rs_372188754

10 SubmittersRCV000129831RCV000200246RCV000656999RCV001824639RCV003997527
NM_007294.4(BRCA1):c.2252T>C (p.Met751Thr) SNV
Germline		 Chr17:43093279 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001508 rs_587781684

8 SubmittersRCV000129847RCV000239259RCV000759501RCV000780974RCV001083025
NM_000059.4(BRCA2):c.2792G>A (p.Gly931Glu) SNV
Germline		 Chr13:32337147 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016375 rs_587781685

3 SubmittersRCV000129848RCV001857442
NM_007294.4(BRCA1):c.1336A>G (p.Arg446Gly) SNV
Germline		 Chr17:43094195 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA000873 rs_587781715

8 SubmittersRCV000129893RCV000679680RCV000695651RCV003335117
NM_000059.4(BRCA2):c.8183T>C (p.Val2728Ala) SNV
Germline		 Chr13:32363385 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025496 rs_587781719

8 SubmittersRCV000129903RCV000523831RCV000663059RCV000463515RCV001251367
NM_007294.4(BRCA1):c.1016A>C (p.Lys339Thr) SNV
Germline		 Chr17:43094515 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA000687 rs_587781737

7 SubmittersRCV000129938RCV000472230RCV000587998RCV002281952
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter) SNV
Germline		 Chr17:35107017 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA165449 rs_587781756

13 SubmittersRCV000129970RCV000409676RCV000485836RCV001271048RCV002281953
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr) SNV
Germline		 Chr13:32340368 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA023516 rs_587781760

9 SubmittersRCV000129979RCV000472369RCV000985554RCV000768158RCV003235055RCV003997538
NM_000059.4(BRCA2):c.4987G>C (p.Val1663Leu) SNV
Germline		 Chr13:32339342 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021111 rs_587781763

7 SubmittersRCV000129985RCV000167888RCV000483840RCV000766617
NM_007294.4(BRCA1):c.3415A>C (p.Ser1139Arg) SNV
Germline		 Chr17:43092116 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002207 rs_587781765

3 SubmittersRCV000129992RCV001304792
NM_007294.4(BRCA1):c.1097A>T (p.Asp366Val) SNV
Germline		 Chr17:43094434 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000733 rs_587781769

4 SubmittersRCV000130000RCV001298276
NM_007294.4(BRCA1):c.5321A>G (p.Asn1774Ser) SNV
Germline		 Chr17:43051074 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003474 rs_587781770

4 SubmittersRCV000130002RCV001076797RCV001857443
NM_007294.4(BRCA1):c.2679G>T (p.Lys893Asn) SNV
Germline		 Chr17:43092852 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001759 rs_587781771

3 SubmittersRCV000130004RCV000474988
NM_000059.4(BRCA2):c.4070T>G (p.Leu1357Arg) SNV
Germline		 Chr13:32338425 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA019466 rs_55796504

10 SubmittersRCV000130026RCV000160072RCV000409740RCV000462928RCV001798438RCV000781066
NM_007294.4(BRCA1):c.2203C>G (p.Leu735Val) SNV
Germline		 Chr17:43093328 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001472 rs_587781781

7 SubmittersRCV000130031RCV000637351RCV001199912RCV003997542RCV001560449
NM_000059.4(BRCA2):c.1666A>G (p.Asn556Asp) SNV
Germline		 Chr13:32333144 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA012839 rs_587781794

10 SubmittersRCV000130055RCV000543145RCV000587388RCV001549274RCV002250568RCV003997544RCV004544293
NM_000059.4(BRCA2):c.1376T>C (p.Leu459Ser) SNV
Germline		 Chr13:32332854 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA011821 rs_587781799

7 SubmittersRCV000130063RCV000231284RCV000483293RCV002509235
NM_000059.4(BRCA2):c.1765A>C (p.Lys589Gln) SNV
Germline		 Chr13:32333243 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA013152 rs_587781801

4 SubmittersRCV000130066RCV000558175RCV003997546
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) SNV
Germline		 Chr17:35101308 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
not specified
Malignant tumor of breast
Hereditary site-specific ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
RAD51D-related disorder		 Criteria Provided
Conflicting Classifications
 CA165670 rs_587781813

23 SubmittersRCV000130084RCV000255993RCV000411407RCV001193713RCV001357548RCV002508924RCV003492595RCV003483498RCV003891666
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) SNV
Germline		 Chr16:23630199 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Endometrial carcinoma		 Criteria Provided
Conflicting Classifications
 CA165693 rs_587781818

10 SubmittersRCV000130094RCV000226926RCV000302799RCV000842453RCV001030271RCV001030649RCV001358211
NM_000059.4(BRCA2):c.5691G>T (p.Leu1897Phe) SNV
Germline		 Chr13:32340046 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022992 rs_587781826

3 SubmittersRCV000130107RCV000798649
NM_000059.4(BRCA2):c.1993A>G (p.Thr665Ala) SNV
Germline		 Chr13:32336348 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA014092 rs_144192844

9 SubmittersRCV000130109RCV000239179RCV000466395RCV000586597RCV001420707
NM_007294.4(BRCA1):c.766A>T (p.Arg256Trp) SNV
Germline		 Chr17:43094765 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA003856 rs_587781833

5 SubmittersRCV000130123RCV000474139RCV003493454
NM_000059.4(BRCA2):c.2947C>A (p.Pro983Thr) SNV
Germline		 Chr13:32337302 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016868 rs_587781848

3 SubmittersRCV000130152RCV003529990
NM_002878.4(RAD51D):c.196G>A (p.Val66Met) SNV
Germline		 Chr17:35118568 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
RAD51D-related disorder		 Criteria Provided
Conflicting Classifications
 CA165840 rs_56026142

16 SubmittersRCV000130161RCV000225779RCV000238834RCV001030594RCV001284344RCV001798441RCV003952682
NM_000059.4(BRCA2):c.7879A>G (p.Ile2627Val) SNV
Germline		 Chr13:32362596 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025320 rs_80359014

2 SubmittersRCV000130167RCV001857444
NM_000059.4(BRCA2):c.8115C>G (p.Ser2705Arg) SNV
Germline		 Chr13:32363317 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025458 rs_587781889

6 SubmittersRCV000130221RCV000411253RCV000796695RCV003237738
NM_000059.4(BRCA2):c.4090A>G (p.Ile1364Val) SNV
Germline		 Chr13:32338445 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA019501 rs_56248502

9 SubmittersRCV000130224RCV000410854RCV000587668RCV000557623RCV001170463
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys) SNV
Germline		 Chr13:32338886 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA020330 rs_376338226

13 SubmittersRCV000130226RCV000411643RCV000476816RCV000589639RCV001263513
NM_000059.4(BRCA2):c.8542G>C (p.Glu2848Gln) SNV
Germline		 Chr13:32371010 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025701 rs_587781893

4 SubmittersRCV000130229RCV000257963RCV000768608RCV003477542
NM_000059.4(BRCA2):c.9369C>A (p.Ser3123Arg) SNV
Germline		 Chr13:32394801 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026118 rs_587781901

2 SubmittersRCV000130239RCV001849930
NM_000059.4(BRCA2):c.1783C>T (p.His595Tyr) SNV
Germline		 Chr13:32333261 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013198 rs_587781906

3 SubmittersRCV000130245RCV001305959
NM_007294.4(BRCA1):c.2684A>G (p.Gln895Arg) SNV
Germline		 Chr17:43092847 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001765 rs_587781914

3 SubmittersRCV000130257RCV001849931
NM_000059.4(BRCA2):c.2522G>A (p.Arg841Lys) SNV
Germline		 Chr13:32336877 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA015536 rs_587781915

8 SubmittersRCV000130258RCV000205313RCV000663004RCV001532896RCV001284076
NM_007294.4(BRCA1):c.135-5T>C SNV
Germline		 Chr17:43106538 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA000901 rs_587781916

6 SubmittersRCV000130259RCV000200745RCV000236507RCV000989914
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter) SNV
Germline		 Chr2:214730491 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Triple-Negative Breast Cancer Finding
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA166173 rs_587781948

16 SubmittersRCV000130318RCV000234673RCV000236005RCV000678227RCV000781932RCV001355804RCV003162583
NM_000059.4(BRCA2):c.6289A>G (p.Thr2097Ala) SNV
Germline		 Chr13:32340644 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
BRCA2-related disorder
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023825 rs_587781965

6 SubmittersRCV000130344RCV001535459RCV001062323RCV003237739
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) SNV
Germline		 Chr2:214767641 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA333223 rs_587781976

14 SubmittersRCV000130369RCV000197585RCV000212130RCV001174926RCV002225431
NM_007294.4(BRCA1):c.1534C>G (p.Leu512Val) SNV
Germline		 Chr17:43093997 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA001034 rs_41286294

11 SubmittersRCV000130372RCV000198821RCV000662675RCV000758787RCV004525876
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His) SNV
Germline		 Chr17:61716002 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Neoplasm of ovary
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA166286 rs_45468199

12 SubmittersRCV000130375RCV000218503RCV000234009RCV000411419RCV000410258RCV001030534RCV001356230RCV003315890RCV003320104
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) SNV
Germline		 Chr13:32398499 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026352 rs_76635144

11 SubmittersRCV000130425RCV000197376RCV000425781RCV000989093RCV001704055
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr) SNV
Germline		 Chr13:32339847 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA022439 rs_587782007

13 SubmittersRCV000130427RCV000160091RCV000409845RCV000459937RCV000766626RCV004532560
NM_007294.4(BRCA1):c.3750G>C (p.Glu1250Asp) SNV
Germline		 Chr17:43091781 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA002403 rs_145903082

7 SubmittersRCV000130432RCV000159882RCV000555879RCV003998058
NM_000059.4(BRCA2):c.2593G>C (p.Glu865Gln) SNV
Germline		 Chr13:32336948 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA015745 rs_587782014

6 SubmittersRCV000130440RCV000557017RCV001193993RCV001770104
NM_000059.4(BRCA2):c.2660A>G (p.Glu887Gly) SNV
Germline		 Chr13:32337015 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA015980 rs_587782015

6 SubmittersRCV000130441RCV000486429RCV000637382RCV003998059
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg) SNV
Germline		 Chr13:32332479 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
8 conditions		 Criteria Provided
Conflicting Classifications
 CA010039 rs_587782016

8 SubmittersRCV000130442RCV000198970RCV000410354RCV000985455RCV002492503
NM_007294.4(BRCA1):c.5349G>A (p.Met1783Ile) SNV
Germline		 Chr17:43049178 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003517 rs_587782019

6 SubmittersRCV000130448RCV000587916RCV001073104RCV001849935
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val) SNV
Germline		 Chr17:43045800 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA003629 rs_587782026

7 SubmittersRCV000130459RCV000168345RCV000481196RCV000765356RCV001076289
NM_007294.4(BRCA1):c.2396A>G (p.Asn799Ser) SNV
Germline		 Chr17:43093135 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001593 rs_587782027

5 SubmittersRCV000130461RCV000590796RCV000700778RCV003998060
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val) SNV
Germline		 Chr13:32379387 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Familial cancer of breast
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025840 rs_373227180

13 SubmittersRCV000130462RCV000356690RCV000233879RCV000409083RCV000780004RCV001775622RCV004567114RCV004532561
NM_007294.4(BRCA1):c.2710G>C (p.Glu904Gln) SNV
Germline		 Chr17:43092821 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001785 rs_80357035

4 SubmittersRCV000130465RCV000229677
NM_000059.4(BRCA2):c.5650A>T (p.Ile1884Phe) SNV
Germline		 Chr13:32340005 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022850 rs_398122538

4 SubmittersRCV000130467RCV000795400
NM_000059.4(BRCA2):c.7777G>T (p.Gly2593Ter) SNV
Germline		 Chr13:32357901 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025271 rs_587782028

5 SubmittersRCV000130472RCV000241421RCV000499832RCV001380613
NM_000059.4(BRCA2):c.5444C>T (p.Thr1815Ile) SNV
Germline		 Chr13:32339799 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022341 rs_587782031

7 SubmittersRCV000130479RCV000800814RCV002466442
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) SNV
Germline		 Chr22:28695800 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Premature ovarian failure
Malignant tumor of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA166521 rs_200928781

15 SubmittersRCV000130486RCV000222009RCV000206869RCV001175336RCV001787089RCV003448269RCV001270242RCV001355927
NM_000059.4(BRCA2):c.6737C>G (p.Pro2246Arg) SNV
Germline		 Chr13:32341092 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA024354 rs_587782038

5 SubmittersRCV000130498RCV000531111RCV003998061
NM_000059.4(BRCA2):c.1880C>T (p.Ala627Val) SNV
Germline		 Chr13:32333358 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013703 rs_587782055

3 SubmittersRCV000130526RCV001315911
NM_000059.4(BRCA2):c.1279G>C (p.Asp427His) SNV
Germline		 Chr13:32332757 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA011443 rs_147797288

4 SubmittersRCV000130527RCV000699217RCV001175560
NM_000059.4(BRCA2):c.1078C>G (p.Pro360Ala) SNV
Germline		 Chr13:32332556 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA010756 rs_587782057

9 SubmittersRCV000130533RCV000588217RCV000689505RCV003998062
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile) SNV
Germline		 Chr13:32339586 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
8 conditions		 Criteria Provided
Conflicting Classifications
 CA021814 rs_587782060

10 SubmittersRCV000130537RCV000198995RCV000410002RCV000590786RCV001284091RCV002505110
NM_000059.4(BRCA2):c.2366A>G (p.Lys789Arg) SNV
Germline		 Chr13:32336721 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA015045 rs_587782062

6 SubmittersRCV000130544RCV000679161RCV001356886RCV000690062
NM_000059.4(BRCA2):c.5131G>A (p.Val1711Ile) SNV
Germline		 Chr13:32339486 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021369 rs_587782067

5 SubmittersRCV000130552RCV000586102RCV000797822
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) SNV
Germline		 Chr22:28734443 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and colorectal cancer, susceptibility to
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA166650 rs_587782070

9 SubmittersRCV000130559RCV000199638RCV000377793RCV001267682RCV002228315
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) SNV
Germline		 Chr13:32332622 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
Condition: not provided
Malignant tumor of breast
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA010932 rs_371454630

12 SubmittersRCV000130560RCV000195524RCV000238792RCV000500188RCV001112103RCV001170455RCV002227070RCV001353620RCV004532563
NM_000059.4(BRCA2):c.3329A>T (p.Glu1110Val) SNV
Germline		 Chr13:32337684 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA017795 rs_587782072

8 SubmittersRCV000130562RCV000478180RCV000637374RCV001193169RCV003998063
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) SNV
Germline		 Chr11:108289644 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA166697 rs_2229021

13 SubmittersRCV000130581RCV000222514RCV000467455RCV001257474RCV002225432RCV002307403
NM_000059.4(BRCA2):c.8332-3C>G SNV
Germline		 Chr13:32370399 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025586 rs_587782093

4 SubmittersRCV000130604RCV000810256RCV000758959RCV003474768
NM_007294.4(BRCA1):c.713A>G (p.His238Arg) SNV
Germline		 Chr17:43094818 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003830 rs_587782094

4 SubmittersRCV000130605RCV001857450
NM_000059.4(BRCA2):c.2312T>G (p.Leu771Ter) SNV
Germline		 Chr13:32336667 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA014913 rs_587782095

8 SubmittersRCV000130606RCV000241179RCV000496732RCV000657630
NM_000059.4(BRCA2):c.9981A>T (p.Lys3327Asn) SNV
Germline		 Chr13:32398494 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026351 rs_587782098

5 SubmittersRCV000130611RCV000434493RCV001342071
NM_000059.4(BRCA2):c.1006G>A (p.Ala336Thr) SNV
Germline		 Chr13:32332484 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA010131 rs_587782100

8 SubmittersRCV000130613RCV000410382RCV000809632RCV001800435RCV001775624
NM_000179.3(MSH6):c.3689C>G (p.Ala1230Gly) SNV
Germline		 Chr2:47806246 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms		 Criteria Provided
Conflicting Classifications
 CA013825 rs_587782117

4 SubmittersRCV000130636RCV001030499RCV000556805
NM_007294.4(BRCA1):c.727A>G (p.Asn243Asp) SNV
Germline		 Chr17:43094804 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003837 rs_587782123

3 SubmittersRCV000130660RCV002514733
NM_007294.4(BRCA1):c.2657C>G (p.Ser886Cys) SNV
Germline		 Chr17:43092874 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001739 rs_587782134

5 SubmittersRCV000130679RCV000500522RCV000793766
NM_000059.4(BRCA2):c.6607G>T (p.Val2203Phe) SNV
Germline		 Chr13:32340962 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024209 rs_587782136

4 SubmittersRCV000130684RCV003114283
NM_000059.4(BRCA2):c.11G>A (p.Gly4Glu) SNV
Germline		 Chr13:32316471 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011142 rs_587782137

2 SubmittersRCV000130687RCV000537170
NM_000059.4(BRCA2):c.1700C>T (p.Thr567Ile) SNV
Germline		 Chr13:32333178 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012932 rs_587782139

3 SubmittersRCV000130692RCV002514734
NM_000059.4(BRCA2):c.2449A>C (p.Lys817Gln) SNV
Germline		 Chr13:32336804 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA015318 rs_587782142

3 SubmittersRCV000130700RCV003529991
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu) SNV
Germline		 Chr13:32336588 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA014707 rs_374691587

11 SubmittersRCV000130703RCV000160045RCV000197517RCV000410547RCV000985472
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) SNV
Germline		 Chr17:61793628 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Neoplasm of ovary
Fanconi anemia complementation group J
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA294222 rs_200062099

12 SubmittersRCV000130729RCV000212311RCV000469846RCV000663131RCV000780054RCV001030540RCV001124864RCV003315897
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) SNV
Germline		 Chr22:28725013 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of prostate
Familial cancer of breast
Li-Fraumeni syndrome 2
Bone osteosarcoma
not specified
Endometrial carcinoma
Hereditary breast ovarian cancer syndrome
CHEK2-related disorder		 Criteria Provided
Conflicting Classifications
 CA294225 rs_146198085

22 SubmittersRCV000130733RCV000198345RCV000589669RCV000515236RCV000855592RCV001356295RCV002225433RCV004532565
NM_000059.4(BRCA2):c.6428C>T (p.Ser2143Leu) SNV
Germline		 Chr13:32340783 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA024021 rs_149330893

4 SubmittersRCV000130744RCV001857453RCV003998075
NM_000059.4(BRCA2):c.2290G>C (p.Glu764Gln) SNV
Germline		 Chr13:32336645 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA014892 rs_587782158

6 SubmittersRCV000130748RCV000409830RCV001375608RCV001203704
NM_000059.4(BRCA2):c.1381G>A (p.Glu461Lys) SNV
Germline		 Chr13:32332859 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA011830 rs_587782159

6 SubmittersRCV000130749RCV000410640RCV001203705RCV001375609
NM_007294.4(BRCA1):c.5371G>T (p.Val1791Leu) SNV
Germline		 Chr17:43049156 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003539 rs_145758886

7 SubmittersRCV000130773RCV000210112RCV000637444
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys) SNV
Germline		 Chr13:32341173 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024446 rs_587782174

7 SubmittersRCV000130779RCV000501677RCV000765132RCV001857455
NM_000059.4(BRCA2):c.6143A>C (p.Asn2048Thr) SNV
Germline		 Chr13:32340498 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA023693 rs_80358853

6 SubmittersRCV000130782RCV000637735RCV001284098RCV003998077
NM_000059.4(BRCA2):c.5002G>A (p.Ala1668Thr) SNV
Germline		 Chr13:32339357 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021125 rs_587782182

3 SubmittersRCV000130804RCV000821456
NM_000059.4(BRCA2):c.6361G>A (p.Glu2121Lys) SNV
Germline		 Chr13:32340716 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023952 rs_587782183

4 SubmittersRCV000130806RCV000496406RCV002514737
NM_000059.4(BRCA2):c.4373A>G (p.His1458Arg) SNV
Germline		 Chr13:32338728 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA020055 rs_587782185

8 SubmittersRCV000130812RCV000238654RCV000469193RCV000486756RCV001280646
NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala) SNV
Germline		 Chr13:32339312 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA021061 rs_587782186

11 SubmittersRCV000130816RCV000210984RCV000496784RCV000637549RCV001283929RCV001354039
NM_007294.4(BRCA1):c.3535A>C (p.Lys1179Gln) SNV
Germline		 Chr17:43091996 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA002262 rs_587782188

4 SubmittersRCV000196802RCV000130818RCV000412247
NM_000059.4(BRCA2):c.3904A>G (p.Thr1302Ala) SNV
Germline		 Chr13:32338259 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA019114 rs_543339423

8 SubmittersRCV000130823RCV000255972RCV000663001RCV000698088RCV003330504
NM_007294.4(BRCA1):c.3800T>C (p.Leu1267Ser) SNV
Germline		 Chr17:43091731 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA002448 rs_587782190

10 SubmittersRCV000130824RCV000460978RCV000589536RCV003998081
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) SNV
Germline		 Chr22:28687932 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA167185 rs_562517792

10 SubmittersRCV000130825RCV000415925RCV000781307RCV001084280RCV001030618
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) SNV
Germline		 Chr16:23607957 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA294240 rs_146377793

14 SubmittersRCV000130835RCV000203792RCV000590502RCV000855603RCV002225436
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile) SNV
Germline		 Chr13:32356499 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025124 rs_587782191

15 SubmittersRCV000130837RCV000459125RCV000479926RCV000779919RCV000662953RCV004528856
NM_000059.4(BRCA2):c.3494A>G (p.His1165Arg) SNV
Germline		 Chr13:32337849 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA018167 rs_587782201

9 SubmittersRCV000130862RCV000230802RCV000410985RCV000483928RCV000779959
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr) SNV
Germline		 Chr13:32337354 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA016996 rs_374769365

9 SubmittersRCV000130892RCV000257906RCV000768593RCV000587614RCV001353934
NM_005732.4(RAD50):c.353T>C (p.Ile118Thr) SNV
Germline		 Chr5:132575916 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Nijmegen breakage syndrome-like disorder		 Criteria Provided
Conflicting Classifications
 CA167354 rs_200472836

5 SubmittersRCV000130904RCV001030731RCV001260375RCV003462004
NM_000059.4(BRCA2):c.2980G>A (p.Ala994Thr) SNV
Germline		 Chr13:32337335 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA016949 rs_587782223

8 SubmittersRCV000130914RCV001053941RCV001293577RCV003998084RCV002464121
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) SNV
Germline		 Chr17:35103501 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA167404 rs_370228071

26 SubmittersRCV000130934RCV000204202RCV000590382RCV000722123RCV001270344RCV001798446
NM_000059.4(BRCA2):c.5365A>G (p.Lys1789Glu) SNV
Germline		 Chr13:32339720 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA022152 rs_587782240

5 SubmittersRCV000130942RCV000198002RCV000781107
NM_007294.4(BRCA1):c.3970A>T (p.Met1324Leu) SNV
Germline		 Chr17:43091561 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002546 rs_587782241

7 SubmittersRCV000130943RCV000460345RCV000508593RCV000663100RCV001800440
NM_000059.4(BRCA2):c.2558A>G (p.Gln853Arg) SNV
Germline		 Chr13:32336913 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA015641 rs_56245590

6 SubmittersRCV000130947RCV000211539RCV001001212
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) SNV
Germline/somatic		 Chr19:1221320 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Neoplasm
Hereditary breast ovarian cancer syndrome
Condition: not provided
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023305 rs_121913322

14 SubmittersRCV000130951RCV000232126RCV000235215RCV000419015RCV001030733RCV001719902RCV003153424
NM_000059.4(BRCA2):c.6076A>G (p.Thr2026Ala) SNV
Germline		 Chr13:32340431 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023608 rs_587782249

4 SubmittersRCV000130958RCV001367383
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) SNV
Germline		 Chr11:108310287 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of breast
Endometrial carcinoma
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary cancer
ATM-related disorder
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA294264 rs_201963507

18 SubmittersRCV000130965RCV000197688RCV000212034RCV000515322RCV001269498RCV001357333RCV002288644RCV003492610RCV003492611RCV004551259RCV003390822RCV003483502
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) SNV
Germline/somatic		 Chr17:7673704 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Head and neck neoplasm
Neoplasm of the large intestine
Condition: not provided
Neoplasm of ovary
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1
Gastric cancer
Lung adenocarcinoma
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000495 rs_121913344

18 SubmittersRCV000130997RCV000232963RCV000422102RCV000428901RCV000356380RCV000785333RCV001255680RCV001310214RCV003162584RCV003322599RCV002307404
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) SNV
Germline		 Chr17:61808531 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Neoplasm of ovary
Fanconi anemia complementation group J
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA167682 rs_141055990

16 SubmittersRCV000131157RCV000220964RCV000231925RCV000412159RCV000411077RCV000781177RCV001356435RCV002225442RCV003315902
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr) SNV
Germline		 Chr13:32394796 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA026116 rs_587782313

10 SubmittersRCV000131208RCV000238950RCV000485860RCV001085485RCV001355914RCV001804852
NM_000059.4(BRCA2):c.5870T>C (p.Ile1957Thr) SNV
Germline		 Chr13:32340225 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA023326 rs_587782320

12 SubmittersRCV000131227RCV000476757RCV000496609RCV001200385RCV003483505
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg) SNV
Germline		 Chr11:108284399 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA167867 rs_568451087

9 SubmittersRCV000131248RCV000234723RCV000608362RCV001356054RCV001798449RCV001704057RCV002225443
NM_007294.4(BRCA1):c.3584A>G (p.His1195Arg) SNV
Germline		 Chr17:43091947 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA002285 rs_28897685

6 SubmittersRCV000131273RCV000199465RCV001194453RCV003998096
NM_000059.4(BRCA2):c.6938-15A>G SNV
Germline		 Chr13:32346812 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024588 rs_587782358

3 SubmittersRCV000131308RCV000233095
NM_000059.4(BRCA2):c.6823G>A (p.Glu2275Lys) SNV
Germline		 Chr13:32341178 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA024463 rs_587782362

8 SubmittersRCV000131323RCV000160121RCV000812168RCV003321516RCV003998101
NM_007294.4(BRCA1):c.4735C>G (p.Pro1579Ala) SNV
Germline		 Chr17:43071179 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA002998 rs_145466894

9 SubmittersRCV000131339RCV000230767RCV000588895RCV000855579RCV004567132
NM_007294.4(BRCA1):c.2638G>C (p.Glu880Gln) SNV
Germline		 Chr17:43092893 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA001731 rs_587782370

6 SubmittersRCV000131341RCV001222005RCV001284391RCV001328387
NM_000059.4(BRCA2):c.5683G>A (p.Glu1895Lys) SNV
Germline		 Chr13:32340038 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA022970 rs_146351301

11 SubmittersRCV000131358RCV000227239RCV000240768RCV000590426RCV000999647RCV002265617RCV003607244
NM_000059.4(BRCA2):c.3296C>A (p.Ser1099Ter) SNV
Germline		 Chr13:32337651 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA017728 rs_397507663

6 SubmittersRCV000131361RCV000241055RCV001582605RCV001857460
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr) SNV
Germline		 Chr17:43070980 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA003087 rs_70953661

12 SubmittersRCV000131365RCV000410761RCV000255486RCV001081541RCV000589552RCV001354024RCV004554713
NM_000059.4(BRCA2):c.5536A>G (p.Ile1846Val) SNV
Germline		 Chr13:32339891 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022506 rs_587782375

12 SubmittersRCV000131366RCV000210966RCV000588246RCV000506172RCV001088770
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) SNV
Germline		 Chr17:61685976 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Neoplasm of ovary
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA168171 rs_587782410

13 SubmittersRCV000131449RCV000216847RCV000412207RCV000410978RCV000468535RCV000588116RCV002288648
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) SNV
Germline		 Chr8:89955326 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
NBN-related disorder
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA294382 rs_141137543

16 SubmittersRCV000131458RCV000199946RCV000212747RCV000735122RCV002225444RCV003905237RCV003492622
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile) SNV
Germline		 Chr13:32337911 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Malignant tumor of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA018342 rs_587782420

11 SubmittersRCV000131471RCV000168159RCV000502658RCV001353460RCV000985507RCV003998106
NM_000059.4(BRCA2):c.1352G>A (p.Ser451Asn) SNV
Germline		 Chr13:32332830 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011709 rs_587782422

3 SubmittersRCV000131473RCV000474836
NM_007294.4(BRCA1):c.5481G>A (p.Met1827Ile) SNV
Germline		 Chr17:43045789 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
See cases		 Criteria Provided
Conflicting Classifications
 CA003651 rs_587782432

8 SubmittersRCV000131490RCV000533729RCV000985444RCV001076304RCV002251996
NM_000059.4(BRCA2):c.796T>C (p.Phe266Leu) SNV
Germline		 Chr13:32332274 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA025359 rs_587782433

8 SubmittersRCV000131491RCV000590127RCV000610136RCV000555445RCV003998107
NM_000059.4(BRCA2):c.9593G>A (p.Cys3198Tyr) SNV
Germline		 Chr13:32396989 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026226 rs_587782435

3 SubmittersRCV000131494RCV000411555RCV001240911
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) SNV
Germline		 Chr16:23629897 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Fanconi anemia complementation group N
Gastric cancer
Breast and/or ovarian cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA168247 rs_180177110

22 SubmittersRCV000131502RCV000236519RCV000466579RCV000824730RCV001264577RCV001781472RCV003162588RCV003492624
NM_000059.4(BRCA2):c.2524G>C (p.Val842Leu) SNV
Germline		 Chr13:32336879 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA015544 rs_587782454

10 SubmittersRCV000131527RCV000238749RCV000501377RCV000462356RCV000758877
NM_007294.4(BRCA1):c.5147A>G (p.Tyr1716Cys) SNV
Germline		 Chr17:43063879 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA003271 rs_587782456

5 SubmittersRCV000131529RCV000486773RCV000637366RCV001077662
NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val) SNV
Germline		 Chr17:43091935 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA002294 rs_587782458

9 SubmittersRCV000131543RCV000236315RCV000416536RCV002265618RCV002250569
NM_024675.4(PALB2):c.18G>T (p.Gly6=) SNV
Germline		 Chr16:23641140 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA168342 rs_587782462

13 SubmittersRCV000131549RCV000432017RCV000557471RCV002265620
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) SNV
Germline		 Chr22:28711994 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Li-Fraumeni syndrome 2
Condition: not provided
Predisposition to cancer
Li-Fraumeni syndrome 2		 Criteria Provided
Conflicting Classifications
 CA294400 rs_587782471

15 SubmittersRCV000131577RCV000212433RCV000199653RCV000791342RCV000586622RCV003153427RCV003389239
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) SNV
Germline		 Chr17:61857120 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Neoplasm of ovary
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast and/or ovarian cancer
BRIP1-related disorder		 Criteria Provided
Conflicting Classifications
 CA168409 rs_143615668

14 SubmittersRCV000131589RCV000220020RCV000588637RCV000663050RCV001082225RCV002225445RCV003315912RCV003492626RCV004532572
NM_000059.4(BRCA2):c.2341A>C (p.Asn781His) SNV
Germline		 Chr13:32336696 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA015005 rs_587782485

5 SubmittersRCV000131604RCV000697994RCV000985476RCV001420793
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg) SNV
Germline		 Chr13:32363244 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia complementation group D1
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025420 rs_587782519

11 SubmittersRCV000131690RCV000239323RCV000168172RCV000724545RCV001114096RCV000781102RCV003462020
NM_000059.4(BRCA2):c.4695G>T (p.Lys1565Asn) SNV
Germline		 Chr13:32339050 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA020660 rs_587782522

10 SubmittersRCV000131707RCV000200646RCV000239158RCV000481655RCV000781154
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) SNV
Germline		 Chr17:58692740 Pathogenic Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O		 Criteria Provided
Multiple Submitters
No Conflicts
 CA294435 rs_587782528

12 SubmittersRCV000131716RCV000196217RCV000212932RCV000410098RCV000589795RCV002505114
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys) SNV
Germline		 Chr13:32332944 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA012149 rs_587782535

15 SubmittersRCV000131739RCV000198082RCV000586148RCV001170456RCV001535543RCV003493458RCV003321517
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) SNV
Germline		 Chr7:5987522 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Lynch syndrome 4
not specified
Endometrial carcinoma
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colon cancer		 Criteria Provided
Conflicting Classifications
 CA009419 rs_138387687

17 SubmittersRCV000131757RCV000198383RCV000586259RCV000987834RCV001535477RCV000855605RCV001355081RCV002275085RCV003323294
NM_024675.4(PALB2):c.3350+5G>A SNV
Germline		 Chr16:23607859 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA168760 rs_587782566

8 SubmittersRCV000131789RCV000526519RCV001824643
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala) SNV
Germline		 Chr13:32394925 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1		 Criteria Provided
Conflicting Classifications
 CA026176 rs_587782568

8 SubmittersRCV000131791RCV000483383RCV000657154RCV001082356RCV001110138RCV001110139
NM_005732.4(RAD50):c.3496C>T (p.Arg1166Trp) SNV
Germline		 Chr5:132638101 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Nijmegen breakage syndrome-like disorder		 Criteria Provided
Conflicting Classifications
 CA333277 rs_587782577

6 SubmittersRCV000131805RCV001030511RCV002271419RCV003477556RCV004567144
NM_000059.4(BRCA2):c.3770C>T (p.Pro1257Leu) SNV
Germline		 Chr13:32338125 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA018762 rs_587782581

5 SubmittersRCV000131915RCV001215437RCV003998118
NM_000059.4(BRCA2):c.2623G>A (p.Val875Ile) SNV
Germline		 Chr13:32336978 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA015888 rs_587782582

7 SubmittersRCV000131916RCV000512784RCV001360763RCV003998119
NM_000059.4(BRCA2):c.5624A>G (p.Lys1875Arg) SNV
Germline		 Chr13:32339979 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022730 rs_587782583

4 SubmittersRCV000131917RCV000223072RCV000688314
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter) SNV
Germline		 Chr13:32339514 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA021429 rs_80358740

9 SubmittersRCV000131919RCV000238884RCV000459811RCV000657663
NM_000059.4(BRCA2):c.6938-5C>T SNV
Germline		 Chr13:32346822 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024595 rs_587782585

3 SubmittersRCV000131924RCV001284585RCV001420009
NM_000059.4(BRCA2):c.1936A>C (p.Ser646Arg) SNV
Germline		 Chr13:32336291 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013962 rs_587782589

3 SubmittersRCV000131928RCV000555622
NM_000059.4(BRCA2):c.425+1G>A SNV
Germline		 Chr13:32325185 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA019789 rs_587782590

5 SubmittersRCV000131929RCV000258343RCV001053512RCV001543465
NM_007294.4(BRCA1):c.2076T>A (p.His692Gln) SNV
Germline		 Chr17:43093455 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001374 rs_587782595

3 SubmittersRCV000131939RCV001306826
NM_000059.4(BRCA2):c.5903C>T (p.Ser1968Leu) SNV
Germline		 Chr13:32340258 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA023356 rs_587782597

6 SubmittersRCV000131945RCV000532143RCV000779958RCV003998122
NM_007294.4(BRCA1):c.889A>G (p.Met297Val) SNV
Germline		 Chr17:43094642 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA003950 rs_80357196

8 SubmittersRCV000131947RCV000239288RCV000549625RCV000486631RCV004562302
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser) SNV
Germline		 Chr13:32339853 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA022451 rs_587782601

11 SubmittersRCV000131959RCV000206165RCV000432115RCV000985250RCV003444206
NM_007294.4(BRCA1):c.4361T>C (p.Val1454Ala) SNV
Germline		 Chr17:43076611 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA002800 rs_587782606

7 SubmittersRCV000131975RCV000199725RCV000486159RCV000411768RCV000781008
NM_000059.4(BRCA2):c.10211G>A (p.Cys3404Tyr) SNV
Germline		 Chr13:32398724 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA010473 rs_587782614

4 SubmittersRCV000131989RCV000637786RCV002267883
NM_000059.4(BRCA2):c.8299C>T (p.Pro2767Ser) SNV
Germline		 Chr13:32363501 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA025557 rs_587782619

6 SubmittersRCV000132002RCV000587651RCV001237414RCV003998126
NM_000059.4(BRCA2):c.6424T>C (p.Ser2142Pro) SNV
Germline		 Chr13:32340779 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024019 rs_587782624

4 SubmittersRCV000132008RCV000637648
NM_000251.3(MSH2):c.1846C>T (p.Pro616Ser) SNV
Germline		 Chr2:47475111 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Lynch syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA019428 rs_587782627

5 SubmittersRCV000132012RCV000629677RCV001030712RCV003998127RCV003129784
NM_007294.4(BRCA1):c.3127A>G (p.Asn1043Asp) SNV
Germline		 Chr17:43092404 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002044 rs_587782630

3 SubmittersRCV000132015RCV001342041
NM_007294.4(BRCA1):c.3956G>A (p.Gly1319Asp) SNV
Germline		 Chr17:43091575 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002533 rs_587782634

4 SubmittersRCV000132023RCV000588765RCV000804939
NM_000059.4(BRCA2):c.3908G>A (p.Gly1303Asp) SNV
Germline		 Chr13:32338263 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA019126 rs_587782645

5 SubmittersRCV000132046RCV000168154RCV000989024
NM_000059.4(BRCA2):c.1439G>A (p.Cys480Tyr) SNV
Germline		 Chr13:32332917 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012042 rs_587782648

3 SubmittersRCV000132056RCV000637628
NM_000059.4(BRCA2):c.3671G>T (p.Gly1224Val) SNV
Germline		 Chr13:32338026 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA018515 rs_587782670

5 SubmittersRCV000132093RCV000985511RCV000703489
NM_000465.4(BARD1):c.95G>T (p.Gly32Val) SNV
Germline		 Chr2:214809475 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA169260 rs_587782675

8 SubmittersRCV000132101RCV000542693RCV001030676RCV001174898
NM_000059.4(BRCA2):c.7580T>C (p.Val2527Ala) SNV
Germline		 Chr13:32356572 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025161 rs_587782676

4 SubmittersRCV000132102RCV000508502RCV000637450
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter) SNV
Germline		 Chr2:214780662 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
BARD1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA169272 rs_587782681

11 SubmittersRCV000132107RCV000195626RCV000413940RCV001201181RCV003945152
NM_000059.4(BRCA2):c.977G>A (p.Ser326Asn) SNV
Germline		 Chr13:32332455 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026295 rs_587782691

5 SubmittersRCV000132125RCV000588060RCV003644909
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) SNV
Germline		 Chr22:28695752 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA169341 rs_200649225

11 SubmittersRCV000132141RCV000215450RCV001030623RCV000780184RCV001086106RCV001355781RCV003149911
NM_007294.4(BRCA1):c.3022A>C (p.Met1008Leu) SNV
Germline		 Chr17:43092509 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001980 rs_56321129

4 SubmittersRCV000132178RCV001236226
NM_007294.4(BRCA1):c.2056G>T (p.Glu686Ter) SNV
Germline		 Chr17:43093475 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA001362 rs_587782709

4 SubmittersRCV000132180RCV000241207RCV001069876RCV001781477
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile) SNV
Germline		 Chr13:32333192 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA012979 rs_587782713

11 SubmittersRCV000132189RCV000412238RCV000468570RCV000587521
NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn) SNV
Germline		 Chr13:32339583 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA021793 rs_587782714

10 SubmittersRCV000132192RCV000239058RCV000505841RCV000637755RCV003477559RCV004532578
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys) SNV
Germline		 Chr13:32357809 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025232 rs_587782715

7 SubmittersRCV000132194RCV000692491RCV000985592RCV003474786RCV003998136RCV004528861
NM_000059.4(BRCA2):c.3985A>G (p.Arg1329Gly) SNV
Germline		 Chr13:32338340 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019330 rs_587782718

4 SubmittersRCV000132205RCV001857467
NM_007294.4(BRCA1):c.3962C>A (p.Ser1321Tyr) SNV
Germline		 Chr17:43091569 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002535 rs_386833394

3 SubmittersRCV000132206RCV003529993
NM_000059.4(BRCA2):c.3772A>G (p.Ile1258Val) SNV
Germline		 Chr13:32338127 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA018772 rs_587782720

9 SubmittersRCV000132209RCV000657047RCV000465587RCV003493460RCV003998137RCV004528862
NM_007294.4(BRCA1):c.2915G>A (p.Gly972Glu) SNV
Germline		 Chr17:43092616 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001902 rs_587782721

4 SubmittersRCV000132210RCV000814762
NM_000059.4(BRCA2):c.3723T>G (p.Phe1241Leu) SNV
Germline		 Chr13:32338078 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Prostate neoplasm
Malignant tumor of prostate
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA018663 rs_587782723

6 SubmittersRCV000132213RCV000471263RCV000478604RCV000414919RCV001196211
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu) SNV
Germline		 Chr13:32344602 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA024540 rs_576279166

11 SubmittersRCV000132216RCV000203848RCV000353391RCV000410842RCV000479638RCV001284584
NM_000059.4(BRCA2):c.8303T>A (p.Leu2768His) SNV
Germline		 Chr13:32363505 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025559 rs_587782732

9 SubmittersRCV000132229RCV000220276RCV000539628RCV000766316RCV001353839RCV003462040
NM_000059.4(BRCA2):c.2389A>C (p.Lys797Gln) SNV
Germline		 Chr13:32336744 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA015097 rs_587782737

7 SubmittersRCV000132239RCV000806650RCV000779981RCV003330508RCV003998138
NM_000059.4(BRCA2):c.5048A>T (p.Gln1683Leu) SNV
Germline		 Chr13:32339403 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021181 rs_587782738

5 SubmittersRCV000132240RCV000231764RCV001537260
NM_000059.4(BRCA2):c.6106C>T (p.Pro2036Ser) SNV
Germline		 Chr13:32340461 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023659 rs_587782740

5 SubmittersRCV000132243RCV000506799RCV001359318
NM_000059.4(BRCA2):c.5927G>T (p.Gly1976Val) SNV
Germline		 Chr13:32340282 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA023378 rs_587782751

10 SubmittersRCV000132261RCV000254817RCV000203955RCV000586206RCV000663212RCV004532580
NM_000059.4(BRCA2):c.9997C>G (p.Leu3333Val) SNV
Germline		 Chr13:32398510 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA026355 rs_567476314

6 SubmittersRCV000132264RCV000232518RCV000679200RCV000662506
NM_000059.4(BRCA2):c.4631A>G (p.Asn1544Ser) SNV
Germline		 Chr13:32338986 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA020557 rs_587782753

6 SubmittersRCV000132267RCV000779985RCV001066722RCV001284570
NM_000059.4(BRCA2):c.4873G>A (p.Glu1625Lys) SNV
Germline		 Chr13:32339228 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020938 rs_587782754

7 SubmittersRCV000132268RCV000144218RCV000215379RCV000468942
NM_007294.4(BRCA1):c.5402G>A (p.Gly1801Asp) SNV
Germline		 Chr17:43049125 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Inherited ovarian cancer (without breast cancer)		 Criteria Provided
Conflicting Classifications
 CA003552 rs_531210457

9 SubmittersRCV000132269RCV000160007RCV000461010RCV001073171RCV001719903RCV004584198
NM_000059.4(BRCA2):c.1265A>C (p.Asn422Thr) SNV
Germline		 Chr13:32332743 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011390 rs_587782755

3 SubmittersRCV000132270RCV001244124
NM_007294.4(BRCA1):c.4389C>G (p.Tyr1463Ter) SNV
Germline		 Chr17:43076583 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002814 rs_80356997

4 SubmittersRCV000132271RCV000241288RCV000793983RCV002478403
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys) SNV
Germline		 Chr17:7670694 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary breast ovarian cancer syndrome
TP53-related disorder		 Criteria Provided
Conflicting Classifications
 CA000017 rs_17882252

11 SubmittersRCV000132285RCV000254694RCV001081368RCV001127282RCV001030734RCV003891671
NM_000059.4(BRCA2):c.5341G>A (p.Asp1781Asn) SNV
Germline		 Chr13:32339696 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022039 rs_183478654

9 SubmittersRCV000132288RCV000409214RCV000589648RCV000637785
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) SNV
Germline		 Chr17:43094288 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000819 rs_587782770

13 SubmittersRCV000132298RCV000238907RCV000588638RCV001797635RCV001081676
NM_000059.4(BRCA2):c.8332-2A>G SNV
Germline		 Chr13:32370400 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025585 rs_587782774

10 SubmittersRCV000132304RCV000258406RCV000503891RCV001353698RCV001528892RCV003474788
NM_000059.4(BRCA2):c.6144T>G (p.Asn2048Lys) SNV
Germline		 Chr13:32340499 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA023696 rs_587782775

5 SubmittersRCV000132308RCV000233381RCV003607245
NM_007294.4(BRCA1):c.5492C>G (p.Pro1831Arg) SNV
Germline		 Chr17:43045778 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003662 rs_587782778

9 SubmittersRCV000132312RCV000547690RCV000508009RCV001076318RCV001762322
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg) SNV
Germline		 Chr13:32379807 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA025924 rs_587782779

8 SubmittersRCV000132316RCV000160162RCV000530210RCV000656810RCV003492630
NM_007294.4(BRCA1):c.733G>T (p.Asp245Tyr) SNV
Germline		 Chr17:43094798 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA003840 rs_147519994

8 SubmittersRCV000132317RCV000229852RCV000780992RCV002286705RCV003998142
NM_007294.4(BRCA1):c.1339G>A (p.Val447Ile) SNV
Germline		 Chr17:43094192 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000874 rs_587782784

4 SubmittersRCV000132330RCV000471324
NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu) SNV
Germline		 Chr13:32370487 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA025633 rs_587782785

11 SubmittersRCV000132333RCV000411091RCV000679192RCV001086081RCV001192608RCV001170974
NM_007294.4(BRCA1):c.1078T>C (p.Cys360Arg) SNV
Germline		 Chr17:43094453 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000720 rs_587782790

3 SubmittersRCV000132339RCV002515921
NM_000059.4(BRCA2):c.428C>G (p.Pro143Arg) SNV
Germline		 Chr13:32326103 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA019922 rs_587782795

9 SubmittersRCV000132345RCV000590737RCV000637494RCV001175343RCV003315919RCV004567154
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp) SNV
Germline		 Chr13:32336843 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA015446 rs_574039421

14 SubmittersRCV000132391RCV000168262RCV000222546RCV000662824RCV001355560RCV001719905
NM_000059.4(BRCA2):c.4672A>C (p.Ser1558Arg) SNV
Germline		 Chr13:32339027 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA020625 rs_587782822

9 SubmittersRCV000132397RCV000255433RCV000411787RCV000542360RCV001818333
NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn) SNV
Germline		 Chr13:32337275 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA016790 rs_539613324

10 SubmittersRCV000132411RCV000167943RCV000485759RCV000657012RCV001353846RCV002250570RCV003335127
NM_024675.4(PALB2):c.292A>G (p.Ile98Val) SNV
Germline		 Chr16:23636254 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA169811 rs_587782831

7 SubmittersRCV000132416RCV000471839RCV001753518RCV002225448
NM_007294.4(BRCA1):c.1920A>T (p.Gln640His) SNV
Germline		 Chr17:43093611 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001263 rs_587782843

6 SubmittersRCV000132437RCV000144221RCV000816497RCV001290528
NM_007194.4(CHEK2):c.592+3A>T SNV
Germline		 Chr22:28724974 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Li-Fraumeni syndrome 2
Breast carcinoma
Hereditary breast ovarian cancer syndrome
Malignant tumor of prostate
CHEK2-related disorder
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA294532 rs_587782849

24 SubmittersRCV000132447RCV000228472RCV000656830RCV001171462RCV001554293RCV002468934RCV003334383RCV004532583RCV004551270
NM_000051.4(ATM):c.2887A>G (p.Met963Val) SNV
Germline		 Chr11:108271112 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA169888 rs_374353016

11 SubmittersRCV000132462RCV000168295RCV000236226RCV001201309RCV001355859RCV002225449RCV001798460
NM_007294.4(BRCA1):c.3289A>T (p.Ser1097Cys) SNV
Germline		 Chr17:43092242 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002122 rs_587782864

3 SubmittersRCV000132485RCV001065014
NM_000059.4(BRCA2):c.1849T>C (p.Ser617Pro) SNV
Germline		 Chr13:32333327 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013554 rs_587782871

3 SubmittersRCV000132495RCV000704969
NM_000059.4(BRCA2):c.5344C>G (p.Gln1782Glu) SNV
Germline		 Chr13:32339699 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022069 rs_80358757

3 SubmittersRCV000132502RCV001857470
NM_000059.4(BRCA2):c.6115T>A (p.Leu2039Ile) SNV
Germline		 Chr13:32340470 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA023669 rs_370026879

10 SubmittersRCV000132514RCV000468278RCV000663027RCV001200386RCV001260398
NM_000059.4(BRCA2):c.2258T>C (p.Phe753Ser) SNV
Germline		 Chr13:32336613 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA014783 rs_587782883

3 SubmittersRCV000132519RCV001205559
NM_007294.4(BRCA1):c.5476C>A (p.Gln1826Lys) SNV
Germline		 Chr17:43045794 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003639 rs_587782887

4 SubmittersRCV000132524RCV001077976RCV002298482
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter) SNV
Germline		 Chr16:23630080 Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA294556 rs_587776415

8 SubmittersRCV000133477RCV000562385RCV001030275RCV003155925
NM_000059.4(BRCA2):c.8490G>A (p.Trp2830Ter) SNV
Germline/somatic		 Chr13:32370958 Pathogenic Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025681 rs_587776351

5 SubmittersRCV000143787RCV000257621RCV000759671RCV002512551
NM_000059.4(BRCA2):c.1340C>T (p.Pro447Leu) SNV
Germline		 Chr13:32332818 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA011674 rs_587776459

9 SubmittersRCV000144180RCV000502802RCV000509642RCV000795705RCV003328557
NM_000059.4(BRCA2):c.1444C>T (p.Leu482Phe) SNV
Germline		 Chr13:32332922 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA012054 rs_587776460

4 SubmittersRCV000144181RCV000817727RCV003157410
NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu) SNV
Germline		 Chr13:32338070 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA018644 rs_374191973

11 SubmittersRCV000144184RCV000160068RCV000537690RCV000575098RCV001704061RCV004532626
NM_000059.4(BRCA2):c.4391C>T (p.Ser1464Phe) SNV
Germline		 Chr13:32338746 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020084 rs_587776464

6 SubmittersRCV000144185RCV000584025RCV001849969
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys) SNV
Germline		 Chr13:32339625 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA021909 rs_587776466

11 SubmittersRCV000144187RCV000164644RCV000173972RCV000232494RCV001192505RCV003492632
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala) SNV
Germline		 Chr13:32394689 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA026069 rs_574271678

11 SubmittersRCV000144196RCV000236803RCV000545556RCV000586031RCV000580829RCV002465535RCV003492633
NM_000059.4(BRCA2):c.9433G>A (p.Val3145Met) SNV
Germline		 Chr13:32394865 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA026154 rs_587776476

8 SubmittersRCV000144197RCV000217472RCV000227102RCV000486980RCV004532627
NM_007294.4(BRCA1):c.1234G>A (p.Val412Ile) SNV
Germline		 Chr17:43094297 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000812 rs_587776478

6 SubmittersRCV000144199RCV000159951RCV000165140RCV001064185
NM_007294.4(BRCA1):c.1295T>C (p.Leu432Pro) SNV
Germline		 Chr17:43094236 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000847 rs_369394098

5 SubmittersRCV000144200RCV001295747RCV002381451RCV003225032
NM_007294.4(BRCA1):c.1975C>G (p.Pro659Ala) SNV
Germline		 Chr17:43093556 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001319 rs_587776481

6 SubmittersRCV000144202RCV000478903RCV000528149RCV000564764
NM_007294.4(BRCA1):c.2342A>C (p.Glu781Ala) SNV
Germline		 Chr17:43093189 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001564 rs_587776482

8 SubmittersRCV000144203RCV000471903RCV000509839RCV000781014
NM_007294.4(BRCA1):c.2456C>G (p.Ser819Cys) SNV
Germline		 Chr17:43093075 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001637 rs_192655097

4 SubmittersRCV000144204RCV000637627RCV002444597
NM_007294.4(BRCA1):c.2690C>T (p.Pro897Leu) SNV
Germline		 Chr17:43092841 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001772 rs_587776484

6 SubmittersRCV000144205RCV000567790RCV001216620RCV001193801
NM_007294.4(BRCA1):c.2980T>A (p.Cys994Ser) SNV
Germline		 Chr17:43092551 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001937 rs_144853230

4 SubmittersRCV000144207RCV001237506RCV002433627
NM_007294.4(BRCA1):c.3170G>A (p.Ser1057Asn) SNV
Germline		 Chr17:43092361 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002068 rs_587776487

7 SubmittersRCV000144208RCV000485904RCV000563435RCV000704884
NM_007294.4(BRCA1):c.3736A>G (p.Thr1246Ala) SNV
Germline		 Chr17:43091795 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002394 rs_587776488

5 SubmittersRCV000144209RCV000581538RCV003529994
NM_007294.4(BRCA1):c.144G>A (p.Met48Ile) SNV
Germline		 Chr17:43106524 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA000972 rs_587783040

6 SubmittersRCV000144580RCV000637653RCV000775192RCV001354062
NM_000059.4(BRCA2):c.6257T>C (p.Ile2086Thr) SNV
Germline		 Chr13:32340612 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023791 rs_587783042

4 SubmittersRCV000144582RCV000704093RCV003157413
NM_000059.4(BRCA2):c.5035A>G (p.Thr1679Ala) SNV
Germline		 Chr13:32339390 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021163 rs_80358728

4 SubmittersRCV000144584RCV000509635RCV000701101
NM_000059.4(BRCA2):c.5982A>T (p.Gln1994His) SNV
Germline		 Chr13:32340337 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023447 rs_587783043

4 SubmittersRCV000144585RCV001849970RCV003157415
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter) SNV
Germline		 Chr17:43076504 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002864 rs_138608489

5 SubmittersRCV000149887RCV000241381RCV000985416RCV003362690
NM_007294.4(BRCA1):c.4358-2786G>A SNV
Germline		 Chr17:43079400 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA002798 rs_374435098

2 SubmittersRCV000149888RCV003998181
NM_000465.4(BARD1):c.465A>G (p.Arg155=) SNV
Germline		 Chr2:214781409 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA298448 rs_730881413

8 SubmittersRCV000159807RCV000199429RCV000212115RCV001543125
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter) SNV
Germline		 Chr2:214781426 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA298444 rs_730881411

12 SubmittersRCV000159805RCV000213814RCV000471276RCV001030673RCV001293502RCV003162672
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys) SNV
Germline		 Chr2:47795968 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 5
Hereditary breast ovarian cancer syndrome
Endometrial carcinoma
Lynch syndrome		 Criteria Provided
Conflicting Classifications
 CA015802 rs_730881813

11 SubmittersRCV000160711RCV000217717RCV000456306RCV000781604RCV000986705RCV001030488RCV003467255RCV003998510
NM_000179.3(MSH6):c.728G>A (p.Arg243His) SNV
Germline		 Chr2:47798711 Conflicting classifications of pathogenicity Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Lynch syndrome
Endometrial carcinoma
not specified		 Criteria Provided
Conflicting Classifications
 CA016346 rs_370157832

9 SubmittersRCV000160655RCV000459365RCV000568587RCV001030489RCV001270441RCV003462092RCV003230421
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) SNV
Germline		 Chr2:47799173 Conflicting classifications of pathogenicity not specified
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Endometrial carcinoma		 Criteria Provided
Conflicting Classifications
 CA008291 rs_63750065

16 SubmittersRCV000160665RCV000206352RCV000662428RCV000708864RCV000656894RCV000565934RCV001030492RCV002484997RCV004567216
NM_000249.4(MLH1):c.790C>G (p.His264Asp) SNV
Germline		 Chr3:37014544 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012233 rs_63751597

9 SubmittersRCV000573493RCV000160528RCV001089422RCV001532966RCV003467245RCV001030627
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) SNV
Germline		 Chr11:108254011 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
ATM-related disorder		 Criteria Provided
Conflicting Classifications
 CA200987 rs_147934285

15 SubmittersRCV000159606RCV000174438RCV000204474RCV001356430RCV002225458RCV003477568RCV004551366
NM_000059.4(BRCA2):c.475+5G>T SNV
Germline		 Chr13:32326155 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA020775 rs_730881504

4 SubmittersRCV000590329RCV003644913RCV002326917
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) SNV
Germline		 Chr13:32326499 Pathogenic/Likely pathogenic Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA021599 rs_397507768

12 SubmittersRCV000168537RCV000222599RCV000258488RCV000257907RCV001353967RCV000766596RCV003474823
NM_000059.4(BRCA2):c.680C>T (p.Ala227Val) SNV
Germline		 Chr13:32329491 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA024426 rs_149565664

6 SubmittersRCV000160026RCV000459299RCV002362849RCV003998436RCV003387778
NM_000059.4(BRCA2):c.848T>C (p.Ile283Thr) SNV
Germline		 Chr13:32332326 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA025680 rs_730881507

4 SubmittersRCV000160031RCV001070424RCV002444664
NM_000059.4(BRCA2):c.902A>G (p.Asp301Gly) SNV
Germline		 Chr13:32332380 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025936 rs_730881508

6 SubmittersRCV000160032RCV000166054RCV000545109RCV002265633
NM_000059.4(BRCA2):c.1094C>T (p.Pro365Leu) SNV
Germline		 Chr13:32332572 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA010784 rs_730881578

8 SubmittersRCV000160181RCV000568907RCV000459920RCV001174590RCV003998458
NM_000059.4(BRCA2):c.1351A>G (p.Ser451Gly) SNV
Germline		 Chr13:32332829 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011700 rs_730881510

4 SubmittersRCV000160037RCV001011034RCV001850257
NM_000059.4(BRCA2):c.1624A>G (p.Ile542Val) SNV
Germline		 Chr13:32333102 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA012652 rs_730881511

7 SubmittersRCV000160039RCV000214296RCV000819175RCV003998437
NM_000059.4(BRCA2):c.1694C>T (p.Ala565Val) SNV
Germline		 Chr13:32333172 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA012916 rs_55821741

11 SubmittersRCV000199884RCV000509822RCV000586436RCV001706064RCV003998438RCV004535034
NM_000059.4(BRCA2):c.2162C>G (p.Pro721Arg) SNV
Germline		 Chr13:32336517 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA014489 rs_730881512

4 SubmittersRCV000160043RCV002426788RCV003765006
NM_000059.4(BRCA2):c.2206G>A (p.Ala736Thr) SNV
Germline		 Chr13:32336561 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA014584 rs_730881513

5 SubmittersRCV000160044RCV000781075RCV000551881RCV002426789
NM_000059.4(BRCA2):c.2446G>A (p.Glu816Lys) SNV
Germline		 Chr13:32336801 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA015314 rs_730881514

5 SubmittersRCV000160048RCV000637641RCV001015572
NM_000059.4(BRCA2):c.2714A>G (p.Asn905Ser) SNV
Germline		 Chr13:32337069 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA016153 rs_730881515

8 SubmittersRCV000160049RCV000165181RCV000411248RCV000541305RCV003317107
NM_000059.4(BRCA2):c.2810A>C (p.Gln937Pro) SNV
Germline		 Chr13:32337165 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA016468 rs_730881516

8 SubmittersRCV000160050RCV000466542RCV000509647RCV003998439
NM_000059.4(BRCA2):c.2843T>C (p.Val948Ala) SNV
Germline		 Chr13:32337198 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA016605 rs_730881517

6 SubmittersRCV000570238RCV000662673RCV000542950RCV000781051
NM_000059.4(BRCA2):c.3005A>C (p.Asn1002Thr) SNV
Germline		 Chr13:32337360 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA017026 rs_730881518

9 SubmittersRCV000160054RCV000219400RCV000225786RCV003235077
NM_000059.4(BRCA2):c.3154G>A (p.Ala1052Thr) SNV
Germline		 Chr13:32337509 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA017317 rs_730881520

6 SubmittersRCV000567319RCV000589646RCV002516426
NM_000059.4(BRCA2):c.3172A>T (p.Lys1058Ter) SNV
Germline		 Chr13:32337527 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA017460 rs_730881521

9 SubmittersRCV000160058RCV000162052RCV000467920RCV002321671
NM_000059.4(BRCA2):c.3208G>T (p.Ala1070Ser) SNV
Germline		 Chr13:32337563 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA017554 rs_372433502

7 SubmittersRCV000160060RCV000166418RCV000524688RCV000781080RCV003998440
NM_000059.4(BRCA2):c.3351A>G (p.Ile1117Met) SNV
Germline		 Chr13:32337706 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA017825 rs_730881522

5 SubmittersRCV000160062RCV000165224RCV000198631
NM_000059.4(BRCA2):c.3382A>G (p.Thr1128Ala) SNV
Germline		 Chr13:32337737 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA017896 rs_730881523

9 SubmittersRCV000160063RCV000205030RCV000215811RCV000766610RCV003998441
NM_000059.4(BRCA2):c.3676A>C (p.Lys1226Gln) SNV
Germline		 Chr13:32338031 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA018533 rs_730881525

5 SubmittersRCV000160067RCV000781126RCV003157428RCV001850258
NM_000059.4(BRCA2):c.3731T>C (p.Ile1244Thr) SNV
Germline		 Chr13:32338086 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA018674 rs_730881526

9 SubmittersRCV000165364RCV000586904RCV000824375RCV003998442
NM_000059.4(BRCA2):c.3758C>T (p.Ala1253Val) SNV
Germline		 Chr13:32338113 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA018726 rs_730881527

5 SubmittersRCV000160070RCV000238817RCV002298486RCV003157429
NM_000059.4(BRCA2):c.3929C>T (p.Thr1310Ile) SNV
Germline		 Chr13:32338284 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA019205 rs_730881528

6 SubmittersRCV000160071RCV000509663RCV001223495RCV003998443
NM_000059.4(BRCA2):c.4079A>G (p.Asp1360Gly) SNV
Germline		 Chr13:32338434 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA019477 rs_730881529

4 SubmittersRCV000160073RCV002295284RCV003157430
NM_000059.4(BRCA2):c.4195T>C (p.Cys1399Arg) SNV
Germline		 Chr13:32338550 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019706 rs_730881530

4 SubmittersRCV000160074RCV000561378RCV001204737
NM_000059.4(BRCA2):c.4211C>T (p.Ser1404Leu) SNV
Germline		 Chr13:32338566 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA019726 rs_41293489

7 SubmittersRCV000160075RCV001022066RCV000637430RCV003493464
NM_000059.4(BRCA2):c.4279T>A (p.Phe1427Ile) SNV
Germline		 Chr13:32338634 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019902 rs_730881531

4 SubmittersRCV000160076RCV002326918RCV001346631
NM_000059.4(BRCA2):c.4549A>G (p.Lys1517Glu) SNV
Germline		 Chr13:32338904 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020401 rs_730881532

5 SubmittersRCV000160078RCV000575191RCV000541569
NM_000059.4(BRCA2):c.4781T>G (p.Met1594Arg) SNV
Germline		 Chr13:32339136 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020830 rs_730881533

4 SubmittersRCV000160079RCV001023038RCV003644914
NM_000059.4(BRCA2):c.4862G>T (p.Cys1621Phe) SNV
Germline		 Chr13:32339217 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA020932 rs_730881534

7 SubmittersRCV000160080RCV000572608RCV001038597RCV003998444
NM_000059.4(BRCA2):c.4981T>C (p.Tyr1661His) SNV
Germline		 Chr13:32339336 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021101 rs_730881535

5 SubmittersRCV000160081RCV000772753RCV001850259
NM_000059.4(BRCA2):c.5117A>C (p.Asn1706Thr) SNV
Germline		 Chr13:32339472 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021306 rs_730881536

10 SubmittersRCV000160082RCV000568700RCV000607894RCV001058918
NM_000059.4(BRCA2):c.5329A>G (p.Lys1777Glu) SNV
Germline		 Chr13:32339684 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022021 rs_730881537

3 SubmittersRCV000160086RCV001309197RCV003157432
NM_000059.4(BRCA2):c.5406A>C (p.Gln1802His) SNV
Germline		 Chr13:32339761 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA022262 rs_139302211

8 SubmittersRCV000165152RCV000766624RCV001308256RCV003998445
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro) SNV
Germline		 Chr13:32339999 Conflicting classifications of pathogenicity Breast and/or ovarian cancer
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022814 rs_730881538

9 SubmittersRCV000257958RCV000590236RCV000806443RCV000772756
NM_000059.4(BRCA2):c.5687C>A (p.Ala1896Glu) SNV
Germline		 Chr13:32340042 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022984 rs_730881539

3 SubmittersRCV000160096RCV000168355RCV003157433
NM_000059.4(BRCA2):c.5741G>A (p.Ser1914Asn) SNV
Germline		 Chr13:32340096 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023121 rs_80358801

3 SubmittersRCV000160098RCV001051411RCV003157434
NM_000059.4(BRCA2):c.5763T>G (p.Phe1921Leu) SNV
Germline		 Chr13:32340118 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA023179 rs_730881540

9 SubmittersRCV000160101RCV000583693RCV001429569RCV003998446
NM_000059.4(BRCA2):c.6140A>G (p.Tyr2047Cys) SNV
Germline		 Chr13:32340495 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023691 rs_730881542

5 SubmittersRCV000160109RCV000509812RCV001850260
NM_000059.4(BRCA2):c.6255A>T (p.Leu2085Phe) SNV
Germline		 Chr13:32340610 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA023790 rs_730881579

8 SubmittersRCV000160189RCV001025049RCV000817081RCV003998459
NM_000059.4(BRCA2):c.6500T>C (p.Leu2167Ser) SNV
Germline		 Chr13:32340855 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA024119 rs_730881543

4 SubmittersRCV000160112RCV001850261RCV002362850
NM_000059.4(BRCA2):c.6538T>G (p.Leu2180Val) SNV
Germline		 Chr13:32340893 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024151 rs_730881544

5 SubmittersRCV000160113RCV001025383RCV001304815
NM_000059.4(BRCA2):c.6567C>A (p.Asn2189Lys) SNV
Germline		 Chr13:32340922 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024175 rs_397507374

9 SubmittersRCV000160114RCV000167273RCV000239150RCV000458192
NM_000059.4(BRCA2):c.6569T>C (p.Val2190Ala) SNV
Germline		 Chr13:32340924 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA024186 rs_730881545

4 SubmittersRCV000160115RCV003644915RCV003157436
NM_000059.4(BRCA2):c.6614T>G (p.Val2205Gly) SNV
Germline		 Chr13:32340969 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA024214 rs_730881546

7 SubmittersRCV000160116RCV000509910RCV000637443RCV001553668
NM_000059.4(BRCA2):c.6652G>C (p.Asp2218His) SNV
Germline		 Chr13:32341007 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024261 rs_730881547

4 SubmittersRCV000160117RCV000509725RCV001210152
NM_000059.4(BRCA2):c.6685G>T (p.Glu2229Ter) SNV
Germline		 Chr13:32341040 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA024292 rs_730881548

5 SubmittersRCV000160118RCV000216038RCV000241410RCV001383215RCV004567200
NM_000059.4(BRCA2):c.6719T>A (p.Leu2240Gln) SNV
Germline		 Chr13:32341074 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024326 rs_369452046

5 SubmittersRCV000160119RCV000570938RCV000706880
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys) SNV
Germline		 Chr13:32341127 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA024402 rs_730881549

11 SubmittersRCV000572828RCV000585930RCV000809521RCV002288677RCV003493465RCV003998447
NM_000059.4(BRCA2):c.7402G>A (p.Val2468Ile) SNV
Germline		 Chr13:32355255 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA025055 rs_730881553

5 SubmittersRCV000160129RCV000217429RCV000538908RCV001199869
NM_000059.4(BRCA2):c.7684T>G (p.Phe2562Val) SNV
Germline		 Chr13:32357808 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025231 rs_80358995

2 SubmittersRCV000160138RCV000792172
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met) SNV
Germline		 Chr13:32363194 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA025389 rs_80359800

12 SubmittersRCV000160146RCV000411343RCV000566432RCV000709332RCV000765140RCV000656803RCV003149970
NM_000059.4(BRCA2):c.8174G>A (p.Trp2725Ter) SNV
Germline/somatic		 Chr13:32363376 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA025488 rs_730881581

10 SubmittersRCV000160191RCV000241299RCV000460183RCV001190946RCV003332129
NM_000059.4(BRCA2):c.8204C>G (p.Pro2735Arg) SNV
Germline		 Chr13:32363406 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA025509 rs_730881564

6 SubmittersRCV000160151RCV001027277RCV001042835RCV001262272RCV003998450
NM_000059.4(BRCA2):c.8632+14T>C SNV
Germline		 Chr13:32371114 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025739 rs_730881596

3 SubmittersRCV000160252RCV001402072
NM_000059.4(BRCA2):c.8825C>A (p.Ala2942Asp) SNV
Germline		 Chr13:32379387 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA025839 rs_373227180

7 SubmittersRCV000160159RCV000166381RCV000693651RCV000781101RCV003462081RCV003998452
NM_000059.4(BRCA2):c.8978C>G (p.Ser2993Ter) SNV
Germline		 Chr13:32379774 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA025911 rs_397508025

5 SubmittersRCV000160161RCV000221983RCV000241294RCV001041171
NM_000059.4(BRCA2):c.9057A>G (p.Lys3019=) SNV
Germline		 Chr13:32379853 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA025946 rs_1799956

3 SubmittersRCV000160164RCV000693870RCV001018727
NM_000059.4(BRCA2):c.9632C>A (p.Thr3211Lys) SNV
Germline		 Chr13:32397028 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA026240 rs_730881583

6 SubmittersRCV000160193RCV000163095RCV000472534RCV003462082RCV003998460
NM_000059.4(BRCA2):c.9648+1G>C SNV
Germline		 Chr13:32397045 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA026248 rs_730881573

6 SubmittersRCV000160176RCV000239346RCV000817530RCV002381526RCV003474824
NM_000059.4(BRCA2):c.9710G>A (p.Arg3237Lys) SNV
Germline		 Chr13:32398223 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA026277 rs_730881575

6 SubmittersRCV000160178RCV000166335RCV000530914RCV000781163RCV003998456
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys) SNV
Germline		 Chr13:32398763 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA010562 rs_730881600

7 SubmittersRCV000160263RCV000230091RCV000771295RCV003477575RCV003492647
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter) SNV
Germline		 Chr16:23630430 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA299691 rs_730881876

9 SubmittersRCV000160827RCV000771400RCV001238865RCV001781504RCV003155926
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) SNV
Germline		 Chr16:23635054 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Fanconi anemia complementation group N
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA185966 rs_75023630

12 SubmittersRCV000160870RCV000197379RCV000200991RCV000368837RCV001030650RCV001356483RCV000858743
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg) SNV
Germline		 Chr17:35107113 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast and/or ovarian cancer
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA299926 rs_201313861

12 SubmittersRCV000160945RCV000227224RCV000586341RCV000709444RCV001420703RCV001798559RCV001354078
NM_007294.4(BRCA1):c.5555C>T (p.Thr1852Ile) SNV
Germline		 Chr17:43045715 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA003711 rs_730881502

6 SubmittersRCV000160015RCV000509851RCV001040100RCV001078072
NM_007294.4(BRCA1):c.5528C>A (p.Ala1843Glu) SNV
Germline		 Chr17:43045742 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003698 rs_730881447

4 SubmittersRCV000159854RCV000466347RCV001076357RCV002345550
NM_007294.4(BRCA1):c.5512G>A (p.Val1838Met) SNV
Germline		 Chr17:43045758 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA003688 rs_730881501

5 SubmittersRCV000160014RCV000689723RCV001078020RCV001181283
NM_007294.4(BRCA1):c.5501C>T (p.Thr1834Ile) SNV
Germline		 Chr17:43045769 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA003671 rs_730881500

8 SubmittersRCV000160012RCV000218401RCV000467034RCV001078008RCV001582636
NM_007294.4(BRCA1):c.5477A>T (p.Gln1826Leu) SNV
Germline		 Chr17:43045793 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003640 rs_730881499

5 SubmittersRCV000160011RCV001024157RCV001077981RCV002053917
NM_007294.4(BRCA1):c.5468-5T>G SNV
Germline		 Chr17:43045807 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_730881498

4 SubmittersRCV000697764RCV001077481RCV001024149
NM_007294.4(BRCA1):c.4987-1G>A SNV
Germline		 Chr17:43067696 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA003130 rs_730881495

10 SubmittersRCV000159998RCV000172806RCV000508328RCV000694301RCV001178132
NM_007294.4(BRCA1):c.4015G>A (p.Glu1339Lys) SNV
Germline		 Chr17:43091516 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002567 rs_80357021

4 SubmittersRCV000159985RCV001021665RCV002515110
NM_007294.4(BRCA1):c.3995G>T (p.Gly1332Val) SNV
Germline		 Chr17:43091536 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA002559 rs_730881490

7 SubmittersRCV000580590RCV000587173RCV000796595RCV001770121
NM_007294.4(BRCA1):c.3980A>G (p.Gln1327Arg) SNV
Germline		 Chr17:43091551 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA002552 rs_730881444

6 SubmittersRCV000509776RCV000637725RCV000505770RCV000662402
NM_007294.4(BRCA1):c.3681A>T (p.Gln1227His) SNV
Germline		 Chr17:43091850 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA002354 rs_730881488

6 SubmittersRCV000159980RCV000564237RCV001850256RCV003607248
NM_007294.4(BRCA1):c.3270A>T (p.Gln1090His) SNV
Germline		 Chr17:43092261 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002114 rs_369925993

7 SubmittersRCV000239193RCV000466655RCV000779882RCV000572366RCV001800469
NM_007294.4(BRCA1):c.3097G>A (p.Glu1033Lys) SNV
Germline		 Chr17:43092434 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA002028 rs_273899698

6 SubmittersRCV000159975RCV000569329RCV000792972RCV001250437
NM_007294.4(BRCA1):c.2935C>A (p.Arg979Ser) SNV
Germline		 Chr17:43092596 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001916 rs_80356970

7 SubmittersRCV000159848RCV001191788RCV003998429RCV002515107
NM_007294.4(BRCA1):c.2922A>C (p.Leu974Phe) SNV
Germline		 Chr17:43092609 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001910 rs_730881487

4 SubmittersRCV000409417RCV000205367RCV002433714
NM_007294.4(BRCA1):c.2888C>T (p.Thr963Ile) SNV
Germline		 Chr17:43092643 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001884 rs_730881443

4 SubmittersRCV000159847RCV000213875RCV000637682
NM_007294.4(BRCA1):c.2808T>G (p.Asp936Glu) SNV
Germline		 Chr17:43092723 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001841 rs_730881485

10 SubmittersRCV000471242RCV000566633RCV000590145RCV003321522RCV003607247RCV003998433
NM_007294.4(BRCA1):c.2444T>C (p.Ile815Thr) SNV
Germline		 Chr17:43093087 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001633 rs_730881484

3 SubmittersRCV000159970RCV003157424RCV002515109
NM_007294.4(BRCA1):c.2333G>A (p.Gly778Asp) SNV
Germline		 Chr17:43093198 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001559 rs_730881483

5 SubmittersRCV000159969RCV000775169RCV000811887
NM_007294.4(BRCA1):c.2321G>A (p.Gly774Asp) SNV
Germline		 Chr17:43093210 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001549 rs_730881482

4 SubmittersRCV000159968RCV001850255RCV003157423
NM_007294.4(BRCA1):c.2312T>C (p.Leu771Ser) SNV
Germline		 Chr17:43093219 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001543 rs_730881481

8 SubmittersRCV000159967RCV000163092RCV001061346RCV003479028RCV003998432
NM_007294.4(BRCA1):c.2246A>T (p.Asp749Val) SNV
Germline		 Chr17:43093285 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001506 rs_730881479

6 SubmittersRCV000159965RCV000206207RCV000571520RCV001255547
NM_007294.4(BRCA1):c.2090T>C (p.Phe697Ser) SNV
Germline		 Chr17:43093441 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001387 rs_730881476

4 SubmittersRCV000204847RCV000409383RCV002415699
NM_007294.4(BRCA1):c.1922T>C (p.Ile641Thr) SNV
Germline		 Chr17:43093609 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA001269 rs_730881474

13 SubmittersRCV000197816RCV000211014RCV000166531RCV000509265RCV000780801
NM_007294.4(BRCA1):c.1901C>T (p.Pro634Leu) SNV
Germline		 Chr17:43093630 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001244 rs_80357121

3 SubmittersRCV000159959RCV002516425RCV003157419
NM_007294.4(BRCA1):c.1786C>T (p.Leu596Phe) SNV
Germline		 Chr17:43093745 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001159 rs_80357371

6 SubmittersRCV000159958RCV000775174RCV001361299RCV004019940
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter) SNV
Germline		 Chr17:43093817 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA001124 rs_730881473

8 SubmittersRCV000159957RCV000218698RCV000241469RCV000585678RCV001389312
NM_007294.4(BRCA1):c.1651A>G (p.Ser551Gly) SNV
Germline		 Chr17:43093880 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001092 rs_730881472

4 SubmittersRCV000159955RCV003157418RCV003644911
NM_007294.4(BRCA1):c.1618G>A (p.Glu540Lys) SNV
Germline		 Chr17:43093913 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001077 rs_730881471

6 SubmittersRCV000159954RCV000775176RCV001251418RCV003644910
NM_007294.4(BRCA1):c.1616C>A (p.Thr539Lys) SNV
Germline		 Chr17:43093915 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001074 rs_80357374

5 SubmittersRCV000159953RCV000685499RCV003453262RCV002399585
NM_007294.4(BRCA1):c.1456T>A (p.Phe486Ile) SNV
Germline		 Chr17:43094075 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA000975 rs_55906931

5 SubmittersRCV000159869RCV000166848RCV000471872RCV003998430
NM_007294.4(BRCA1):c.1313A>C (p.Glu438Ala) SNV
Germline		 Chr17:43094218 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA000858 rs_730881470

3 SubmittersRCV000159952RCV001850254RCV003157417
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly) SNV
Germline		 Chr17:43094272 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
not specified		 Criteria Provided
Conflicting Classifications
 CA000831 rs_730881442

11 SubmittersRCV000159846RCV000204508RCV000214615RCV000409308RCV000515362RCV000779906
NM_007294.4(BRCA1):c.1232A>T (p.Asp411Val) SNV
Germline		 Chr17:43094299 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA000809 rs_730881469

6 SubmittersRCV000159950RCV000568855RCV001850253RCV003607246
NM_007294.4(BRCA1):c.923G>C (p.Ser308Thr) SNV
Germline		 Chr17:43094608 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA003966 rs_561998108

7 SubmittersRCV000159947RCV000166933RCV000637409RCV001818356
NM_007294.4(BRCA1):c.869T>G (p.Leu290Ter) SNV
Germline		 Chr17:43094662 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003944 rs_730881468

4 SubmittersRCV000159946RCV000241503RCV003529995
NM_007294.4(BRCA1):c.788G>A (p.Gly263Asp) SNV
Germline		 Chr17:43094743 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA003870 rs_397509319

9 SubmittersRCV000159945RCV000165328RCV000409328RCV000559360RCV001582635
NM_007294.4(BRCA1):c.729T>G (p.Asn243Lys) SNV
Germline		 Chr17:43094802 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA003838 rs_730881467

6 SubmittersRCV000159944RCV001351535RCV001178194RCV003998431
NM_007294.4(BRCA1):c.222A>C (p.Gln74His) SNV
Germline		 Chr17:43104947 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001492 rs_730881465

4 SubmittersRCV000471434RCV001014818RCV001076027RCV001800468
NM_007294.4(BRCA1):c.216C>G (p.Ser72Arg) SNV
Germline		 Chr17:43104953 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001450 rs_80356967

6 SubmittersRCV000564950RCV000590511RCV001072676RCV001371073
NM_007294.4(BRCA1):c.172C>A (p.Pro58Thr) SNV
Germline		 Chr17:43106496 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA001135 rs_397508904

6 SubmittersRCV000159934RCV000571136RCV001036738RCV001077106RCV002267892
NM_007294.4(BRCA1):c.60A>C (p.Lys20Asn) SNV
Germline		 Chr17:43124037 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA003760 rs_202168814

8 SubmittersRCV000159933RCV000215880RCV000549303RCV001077746
NM_058216.3(RAD51C):c.32A>G (p.Gln11Arg) SNV
Germline		 Chr17:58692675 Conflicting classifications of pathogenicity Fanconi anemia complementation group O
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA299901 rs_730881937

6 SubmittersRCV000233682RCV000587134RCV000709500RCV001189359
NM_058216.3(RAD51C):c.404+2T>C SNV
Germline		 Chr17:58695191 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA299885 rs_730881931

8 SubmittersRCV000160923RCV000221514RCV000467500RCV000763014RCV002307418RCV003467269
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp) SNV
Germline		 Chr17:58724069 Conflicting classifications of pathogenicity Condition: not provided
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA299887 rs_730881932

8 SubmittersRCV000160924RCV000807077RCV000563267RCV001310207RCV000781796
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter) SNV
Germline		 Chr17:61801327 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Gastric cancer
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA298869 rs_730881633

10 SubmittersRCV000160335RCV000212307RCV000636104RCV001030543RCV003162675RCV003335146
NM_032043.3(BRIP1):c.93+15G>A SNV
Germline		 Chr17:61861432 Conflicting classifications of pathogenicity not specified
Fanconi anemia complementation group J
Neoplasm of ovary
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group J		 Criteria Provided
Conflicting Classifications
 CA298901 rs_113052745

6 SubmittersRCV000160347RCV000395959RCV000662691RCV000580716RCV002225462RCV002053921
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) SNV
Germline		 Chr22:28689164 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA299094 rs_587781960

8 SubmittersRCV000160441RCV000212471RCV000476991RCV001030619RCV001193688
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) SNV
Germline		 Chr22:28725278 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Li-Fraumeni syndrome 2
Malignant tumor of prostate
Bone osteosarcoma
Congenital heart defects, multiple types, 3
Hereditary breast ovarian cancer syndrome
Gastric cancer
CHEK2-related cancer predisposition		 Criteria Provided
Multiple Submitters
No Conflicts
 CA299110 rs_730881701

17 SubmittersRCV000160452RCV000229303RCV000254656RCV000763477RCV001007871RCV001526967RCV003162676RCV004556752
NM_000059.4(BRCA2):c.1329G>T (p.Glu443Asp) SNV
Germline		 Chr13:32332807 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA011632 rs_73169186

4 SubmittersRCV000161925RCV000509920
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) SNV
Germline		 Chr17:43067625 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003177 rs_730882166

8 SubmittersRCV000162048RCV000483050RCV000468314RCV000509750
NM_007294.4(BRCA1):c.4998C>A (p.Tyr1666Ter) SNV
Germline		 Chr17:43067684 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003146 rs_730882165

5 SubmittersRCV000162047RCV000214326RCV001385886
NM_007294.4(BRCA1):c.3511A>T (p.Lys1171Ter) SNV
Germline		 Chr17:43092020 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA002255 rs_730882164

5 SubmittersRCV000162046RCV000540560RCV000571457
NM_000465.4(BARD1):c.1153G>A (p.Asp385Asn) SNV
Germline		 Chr2:214780721 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA195222 rs_587782436

8 SubmittersRCV000166197RCV000480359RCV000475001RCV001201307RCV002225486
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu) SNV
Germline		 Chr2:214781032 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA193386 rs_367890377

12 SubmittersRCV000165427RCV000204860RCV000236294RCV002509267RCV002225483
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) SNV
Germline		 Chr2:47403271 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary nonpolyposis colon cancer
Lynch syndrome		 Criteria Provided
Conflicting Classifications
 CA022338 rs_750746034

13 SubmittersRCV000164692RCV000235224RCV000228123RCV000412025RCV001374485RCV003226226RCV003993847RCV003995359
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter) SNV
Germline		 Chr5:132588872 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Nijmegen breakage syndrome-like disorder
Nijmegen breakage syndrome-like disorder
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA189053 rs_373428259

6 SubmittersRCV000163726RCV001194191RCV002498810RCV003483532
NM_005732.4(RAD50):c.2209C>G (p.Gln737Glu) SNV
Germline		 Chr5:132603301 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Nijmegen breakage syndrome-like disorder
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA198118 rs_549559726

5 SubmittersRCV000167368RCV000764585RCV001030506RCV001194195
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) SNV
Germline		 Chr8:89953280 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA191232 rs_192236678

11 SubmittersRCV000164543RCV000589243RCV000424535RCV001030565RCV001081367RCV001357000
NM_002485.5(NBN):c.415A>G (p.Thr139Ala) SNV
Germline		 Chr8:89980799 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA193554 rs_543852763

7 SubmittersRCV000165497RCV000168457RCV001706081RCV002225484
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) SNV
Germline		 Chr11:108253989 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA189945 rs_765965513

10 SubmittersRCV000164063RCV000168071RCV000219263RCV000780902RCV003150012RCV003316015RCV003483533
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) SNV
Germline		 Chr11:108267310 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA190672 rs_145513717

9 SubmittersRCV000164332RCV000476653RCV000479991RCV002225480RCV002465546RCV003467290
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg) SNV
Germline		 Chr11:108268575 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA190962 rs_3218708

9 SubmittersRCV000164443RCV000557491RCV000779788RCV001030525RCV003238729
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg) SNV
Germline		 Chr11:108289730 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA193670 rs_527471560

7 SubmittersRCV000165552RCV000232578RCV000780910RCV001030530RCV001589033
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) SNV
Germline		 Chr11:108316060 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA197753 rs_786203767

8 SubmittersRCV000167214RCV000628069RCV000523725RCV003330526RCV003483552RCV004567335
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) SNV
Germline		 Chr11:108321385 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA194187 rs_146243469

14 SubmittersRCV000165775RCV000205267RCV000590569RCV000764937RCV002225485RCV003387784RCV003474869
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) SNV
Germline		 Chr11:108365208 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA194505 rs_770641163

17 SubmittersRCV000165909RCV000169469RCV000414034RCV000416708RCV000515430RCV001265579RCV003462193
NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala) SNV
Germline		 Chr13:32316471 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA011150 rs_587782137

8 SubmittersRCV000167014RCV000637700RCV001356441RCV001280619RCV002250581
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala) SNV
Germline		 Chr13:32316488 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA016728 rs_786203080

8 SubmittersRCV000166222RCV000470603RCV000586386RCV001171391RCV003474874RCV003995490
NM_000059.4(BRCA2):c.52C>T (p.Arg18Cys) SNV
Germline		 Chr13:32316512 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA021988 rs_786201560

5 SubmittersRCV000163880RCV000542286RCV000485328RCV000662989
NM_000059.4(BRCA2):c.68-2A>G SNV
Germline		 Chr13:32319075 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA024472 rs_769152395

6 SubmittersRCV000167275RCV000702378RCV000988980
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg) SNV
Germline		 Chr13:32319325 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Fanconi anemia complementation group D1		 Criteria Provided
Conflicting Classifications
 CA017418 rs_786201916

5 SubmittersRCV000164444RCV000637554RCV001193279RCV003441762RCV001729420
NM_000059.4(BRCA2):c.397C>A (p.Pro133Thr) SNV
Germline		 Chr13:32325156 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA019322 rs_571823764

5 SubmittersRCV000164580RCV001723734RCV001299038RCV003321530RCV003607249
NM_000059.4(BRCA2):c.632-3C>A SNV
Germline		 Chr13:32329440 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023901 rs_568027879

5 SubmittersRCV000165268RCV000464025RCV000507464RCV000766296
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter) SNV
Germline		 Chr13:32332277 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Reviewed By Expert Panel
 CA025393 rs_786202796

6 SubmittersRCV000165786RCV000220294RCV000241277RCV000781052RCV004528914
NM_000059.4(BRCA2):c.1037A>T (p.Asn346Ile) SNV
Germline		 Chr13:32332515 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA010614 rs_786202042

3 SubmittersRCV000164652RCV001208262
NM_000059.4(BRCA2):c.1040A>C (p.Gln347Pro) SNV
Germline		 Chr13:32332518 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA010632 rs_55800493

4 SubmittersRCV000167323RCV000758856RCV001201830
NM_000059.4(BRCA2):c.1054T>C (p.Tyr352His) SNV
Germline		 Chr13:32332532 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA010685 rs_542343726

9 SubmittersRCV000167496RCV000470929RCV000485522RCV001697202RCV003995595
NM_000059.4(BRCA2):c.1131G>C (p.Glu377Asp) SNV
Germline		 Chr13:32332609 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA010906 rs_777845659

6 SubmittersRCV000166252RCV000560741RCV000758859RCV001420815
NM_000059.4(BRCA2):c.1246A>G (p.Ile416Val) SNV
Germline		 Chr13:32332724 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA011314 rs_786203710

6 SubmittersRCV000167130RCV000637526RCV001775653RCV003995563
NM_000059.4(BRCA2):c.1259A>G (p.Asp420Gly) SNV
Germline		 Chr13:32332737 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA011352 rs_786201654

7 SubmittersRCV000164047RCV000525169RCV000662878RCV001284074
NM_000059.4(BRCA2):c.1273G>A (p.Glu425Lys) SNV
Germline		 Chr13:32332751 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011416 rs_786203512

4 SubmittersRCV000166847RCV000705017
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile) SNV
Germline		 Chr13:32332760 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
8 conditions
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA011452 rs_547590567

7 SubmittersRCV000167165RCV000508325RCV000765131RCV000816899RCV001565649RCV003234772
NM_000059.4(BRCA2):c.1334C>A (p.Ser445Tyr) SNV
Germline		 Chr13:32332812 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011647 rs_786202373

4 SubmittersRCV000165146RCV001063054
NM_000059.4(BRCA2):c.1397A>G (p.Asn466Ser) SNV
Germline		 Chr13:32332875 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA011894 rs_370692951

6 SubmittersRCV000165400RCV001057061RCV000985464RCV001354133
NM_000059.4(BRCA2):c.1403G>A (p.Arg468Lys) SNV
Germline		 Chr13:32332881 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA011924 rs_786202940

3 SubmittersRCV000166015RCV000637522
NM_000059.4(BRCA2):c.1478C>T (p.Pro493Leu) SNV
Germline		 Chr13:32332956 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA012176 rs_786202916

9 SubmittersRCV000165981RCV000239257RCV000486205RCV000534241RCV000587856RCV001353888
NM_000059.4(BRCA2):c.1481T>C (p.Val494Ala) SNV
Germline		 Chr13:32332959 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012185 rs_786202205

5 SubmittersRCV000164909RCV002460941RCV003644922
NM_000059.4(BRCA2):c.1510T>C (p.Ser504Pro) SNV
Germline		 Chr13:32332988 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012264 rs_786203006

3 SubmittersRCV000166120RCV002516495
NM_000059.4(BRCA2):c.1543A>G (p.Thr515Ala) SNV
Germline		 Chr13:32333021 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA012345 rs_749469486

5 SubmittersRCV000166164RCV000548268RCV002254912RCV003995484
NM_000059.4(BRCA2):c.1544C>T (p.Thr515Ile) SNV
Germline		 Chr13:32333022 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA012351 rs_786202142

5 SubmittersRCV000164808RCV000419181RCV003644920RCV003995366
NM_000059.4(BRCA2):c.1598C>T (p.Thr533Ile) SNV
Germline		 Chr13:32333076 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA012581 rs_781763239

11 SubmittersRCV000166855RCV000586858RCV000662361RCV000804094RCV001818394
NM_000059.4(BRCA2):c.1627C>T (p.His543Tyr) SNV
Germline		 Chr13:32333105 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012679 rs_80358446

6 SubmittersRCV000166042RCV000485437RCV001193751RCV001347556
NM_000059.4(BRCA2):c.1646A>G (p.Lys549Arg) SNV
Germline		 Chr13:32333124 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012761 rs_786203702

3 SubmittersRCV000167122RCV001300305
NM_000059.4(BRCA2):c.1669T>A (p.Leu557Ile) SNV
Germline		 Chr13:32333147 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA012849 rs_786202150

4 SubmittersRCV000164819RCV002516467
NM_000059.4(BRCA2):c.1760C>G (p.Thr587Arg) SNV
Germline		 Chr13:32333238 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013115 rs_786203316

3 SubmittersRCV000166573RCV000553477
NM_000059.4(BRCA2):c.1771A>G (p.Ile591Val) SNV
Germline		 Chr13:32333249 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA013165 rs_786203548

6 SubmittersRCV000166907RCV000688840RCV001550389RCV003995544
NM_000059.4(BRCA2):c.1824C>G (p.Asp608Glu) SNV
Germline		 Chr13:32333302 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA013472 rs_786202186

5 SubmittersRCV000164885RCV001069188RCV002254911
NM_000059.4(BRCA2):c.1880C>G (p.Ala627Gly) SNV
Germline		 Chr13:32333358 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013695 rs_587782055

3 SubmittersRCV000166337RCV001296312
NM_000059.4(BRCA2):c.1908A>G (p.Ser636=) SNV
Germline		 Chr13:32333386 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013798 rs_786201892

2 SubmittersRCV000164410RCV000797794
NM_000059.4(BRCA2):c.1922C>T (p.Ser641Phe) SNV
Germline		 Chr13:32336277 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA013934 rs_786202360

5 SubmittersRCV000165127RCV001320851RCV003231349RCV003995395
NM_000059.4(BRCA2):c.1988T>C (p.Phe663Ser) SNV
Germline		 Chr13:32336343 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA014072 rs_552526845

5 SubmittersRCV000165107RCV000637410RCV003995392
NM_000059.4(BRCA2):c.2035A>T (p.Asn679Tyr) SNV
Germline		 Chr13:32336390 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA014176 rs_786202617

3 SubmittersRCV000165512RCV000806648
NM_000059.4(BRCA2):c.2224C>A (p.Gln742Lys) SNV
Germline		 Chr13:32336579 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA014659 rs_80358494

8 SubmittersRCV000164550RCV000531299RCV000590224RCV003995347
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu) SNV
Germline		 Chr13:32336586 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions		 Criteria Provided
Conflicting Classifications
 CA014700 rs_397507282

5 SubmittersRCV000166823RCV000546053RCV001582657RCV002492673
NM_000059.4(BRCA2):c.2248G>C (p.Asp750His) SNV
Germline		 Chr13:32336603 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA014741 rs_773125650

6 SubmittersRCV000166180RCV000239212RCV001294823
NM_000059.4(BRCA2):c.2330A>G (p.Asp777Gly) SNV
Germline		 Chr13:32336685 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA014974 rs_780489283

9 SubmittersRCV000164609RCV000196448RCV000409339RCV000481454RCV001721063RCV001353765
NM_000059.4(BRCA2):c.2348T>G (p.Val783Gly) SNV
Germline		 Chr13:32336703 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA015013 rs_768143929

12 SubmittersRCV000167274RCV000238666RCV000559193RCV001174861RCV001283917RCV003150029
NM_000059.4(BRCA2):c.2380A>G (p.Met794Val) SNV
Germline		 Chr13:32336735 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA015089 rs_786203635

6 SubmittersRCV000167035RCV000505884RCV000688301
NM_000059.4(BRCA2):c.2443A>G (p.Met815Val) SNV
Germline		 Chr13:32336798 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA015297 rs_786203814

8 SubmittersRCV000167284RCV000410955RCV000456518RCV001582658RCV001823121
NM_000059.4(BRCA2):c.2578A>G (p.Ile860Val) SNV
Germline		 Chr13:32336933 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA015675 rs_786202072

4 SubmittersRCV000164704RCV001045248
NM_000059.4(BRCA2):c.2612C>G (p.Ser871Ter) SNV
Germline		 Chr13:32336967 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA015833 rs_397507634

4 SubmittersRCV000167495RCV000241282RCV000255430RCV001060547
NM_000059.4(BRCA2):c.2629C>T (p.Pro877Ser) SNV
Germline		 Chr13:32336984 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA015901 rs_80358524

3 SubmittersRCV000167199RCV002298497
NM_000059.4(BRCA2):c.2679A>G (p.Gln893=) SNV
Germline		 Chr13:32337034 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA016024 rs_786203640

6 SubmittersRCV000167041RCV000506813RCV001062992RCV002478517RCV003995550
NM_000059.4(BRCA2):c.2683G>A (p.Ala895Thr) SNV
Germline		 Chr13:32337038 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA016049 rs_786203045

8 SubmittersRCV000166179RCV000239250RCV000548524RCV001175564RCV001800497
NM_000059.4(BRCA2):c.2683G>T (p.Ala895Ser) SNV
Germline		 Chr13:32337038 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA016058 rs_786203045

4 SubmittersRCV000166570RCV001224927RCV001775652
NM_000059.4(BRCA2):c.2704G>C (p.Ala902Pro) SNV
Germline		 Chr13:32337059 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA016149 rs_768648043

5 SubmittersRCV000166055RCV000802958RCV003995474
NM_000059.4(BRCA2):c.2723A>C (p.Glu908Ala) SNV
Germline		 Chr13:32337078 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016168 rs_786202254

4 SubmittersRCV000164972RCV000792719
NM_000059.4(BRCA2):c.2744C>G (p.Thr915Ser) SNV
Germline		 Chr13:32337099 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016236 rs_786202795

3 SubmittersRCV000165784RCV000476860
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val) SNV
Germline		 Chr13:32337134 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA016339 rs_786201837

12 SubmittersRCV000164328RCV000426572RCV000525226RCV000588268RCV000663056RCV001262846
NM_000059.4(BRCA2):c.2807A>G (p.Lys936Arg) SNV
Germline		 Chr13:32337162 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016431 rs_786201753

3 SubmittersRCV000164206RCV000706256
NM_000059.4(BRCA2):c.2881C>G (p.Gln961Glu) SNV
Germline		 Chr13:32337236 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016663 rs_80358538

6 SubmittersRCV000164804RCV000985489RCV001192685RCV001370609
NM_000059.4(BRCA2):c.2900T>C (p.Leu967Pro) SNV
Germline		 Chr13:32337255 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA016735 rs_786202161

5 SubmittersRCV000164842RCV000637332RCV003995369
NM_000059.4(BRCA2):c.3068A>G (p.Asn1023Ser) SNV
Germline		 Chr13:32337423 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA017138 rs_776196396

6 SubmittersRCV000165158RCV000637766RCV001775643RCV003995396
NM_000059.4(BRCA2):c.3199A>G (p.Thr1067Ala) SNV
Germline		 Chr13:32337554 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA017521 rs_786203711

3 SubmittersRCV000167131RCV000699510
NM_000059.4(BRCA2):c.3397C>T (p.Pro1133Ser) SNV
Germline		 Chr13:32337752 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA017933 rs_786202430

6 SubmittersRCV000165239RCV000227293RCV001762376RCV001800489RCV003137693
NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp) SNV
Germline		 Chr13:32337852 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA018181 rs_762886975

5 SubmittersRCV000166339RCV000309640RCV000366646RCV001094081RCV001356826
NM_000059.4(BRCA2):c.3532A>G (p.Ser1178Gly) SNV
Germline		 Chr13:32337887 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA018276 rs_41293481

3 SubmittersRCV000164836RCV001223685
NM_000059.4(BRCA2):c.3553A>G (p.Thr1185Ala) SNV
Germline		 Chr13:32337908 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA018312 rs_786202485

5 SubmittersRCV000165322RCV000686649RCV004535110RCV003995411
NM_000059.4(BRCA2):c.3667C>T (p.His1223Tyr) SNV
Germline		 Chr13:32338022 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA018502 rs_786203756

7 SubmittersRCV000167201RCV000412156RCV000535786RCV000780008
NM_000059.4(BRCA2):c.3685G>A (p.Val1229Ile) SNV
Germline		 Chr13:32338040 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA018583 rs_786203538

4 SubmittersRCV000166889RCV001216937RCV001539347
NM_000059.4(BRCA2):c.3730A>G (p.Ile1244Val) SNV
Germline		 Chr13:32338085 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA018673 rs_786202091

3 SubmittersRCV000164731RCV001326767
NM_000059.4(BRCA2):c.3865A>G (p.Lys1289Glu) SNV
Germline		 Chr13:32338220 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA019026 rs_786201943

6 SubmittersRCV000164489RCV000701526RCV000758888RCV003483534
NM_000059.4(BRCA2):c.3987A>T (p.Arg1329Ser) SNV
Germline		 Chr13:32338342 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA019337 rs_786203361

7 SubmittersRCV000166638RCV000236432RCV000466166RCV003995521RCV004535127
NM_000059.4(BRCA2):c.4109G>C (p.Gly1370Ala) SNV
Germline		 Chr13:32338464 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA019538 rs_587781406

7 SubmittersRCV000165589RCV000536926RCV001800494RCV003995436RCV003398848
NM_000059.4(BRCA2):c.4232C>G (p.Ala1411Gly) SNV
Germline		 Chr13:32338587 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019754 rs_786203320

3 SubmittersRCV000166581RCV001204251
NM_000059.4(BRCA2):c.4312G>A (p.Val1438Ile) SNV
Germline		 Chr13:32338667 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA019946 rs_786202874

5 SubmittersRCV000165922RCV000411249RCV000677852RCV003765037
NM_000059.4(BRCA2):c.4333A>G (p.Lys1445Glu) SNV
Germline		 Chr13:32338688 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020001 rs_786203291

3 SubmittersRCV000166532RCV002515163
NM_000059.4(BRCA2):c.4412G>T (p.Arg1471Ile) SNV
Germline		 Chr13:32338767 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA020137 rs_786203839

5 SubmittersRCV000167319RCV000461661RCV000590203RCV003235087
NM_000059.4(BRCA2):c.4464C>A (p.His1488Gln) SNV
Germline		 Chr13:32338819 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA020215 rs_786203743

7 SubmittersRCV000167179RCV000814203RCV001284425RCV003398856RCV004528919
NM_000059.4(BRCA2):c.4611A>C (p.Glu1537Asp) SNV
Germline		 Chr13:32338966 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA020539 rs_786202313

7 SubmittersRCV000165057RCV000535631RCV000679174RCV003995385
NM_000059.4(BRCA2):c.4759G>A (p.Ala1587Thr) SNV
Germline		 Chr13:32339114 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA020778 rs_56137239

8 SubmittersRCV000166660RCV000236670RCV000412143RCV000690936RCV000781116
NM_000059.4(BRCA2):c.4784A>C (p.Gln1595Pro) SNV
Germline		 Chr13:32339139 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020833 rs_786201184

4 SubmittersRCV000163035RCV000203834
NM_000059.4(BRCA2):c.4795A>G (p.Asn1599Asp) SNV
Germline		 Chr13:32339150 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA020839 rs_786202703

3 SubmittersRCV000165644RCV000695549
NM_000059.4(BRCA2):c.4813G>A (p.Val1605Ile) SNV
Germline		 Chr13:32339168 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA020865 rs_786201175

7 SubmittersRCV000162834RCV000221573RCV000637639RCV003315984
NM_000059.4(BRCA2):c.4942G>A (p.Ala1648Thr) SNV
Germline		 Chr13:32339297 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021048 rs_786202248

8 SubmittersRCV000164966RCV000239162RCV000637534RCV000769698RCV002466457
NM_000059.4(BRCA2):c.4969A>C (p.Asn1657His) SNV
Germline		 Chr13:32339324 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA021077 rs_587781599

5 SubmittersRCV000165819RCV000474260RCV001753563RCV004535120
NM_000059.4(BRCA2):c.5023T>C (p.Cys1675Arg) SNV
Germline		 Chr13:32339378 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA021140 rs_786201420

6 SubmittersRCV000163597RCV000534065RCV001775641
NM_000059.4(BRCA2):c.5026A>C (p.Ser1676Arg) SNV
Germline		 Chr13:32339381 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021146 rs_786203719

3 SubmittersRCV000167143RCV000814106
NM_000059.4(BRCA2):c.5081G>C (p.Arg1694Thr) SNV
Germline		 Chr13:32339436 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA021223 rs_753721331

7 SubmittersRCV000167215RCV001798599RCV001850363RCV002267921
NM_000059.4(BRCA2):c.5120C>T (p.Thr1707Ile) SNV
Germline		 Chr13:32339475 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA021317 rs_786202354

7 SubmittersRCV000165119RCV000479876RCV000709315RCV000767034RCV000989036
NM_000059.4(BRCA2):c.5126A>C (p.Asp1709Ala) SNV
Germline		 Chr13:32339481 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA021338 rs_786202836

9 SubmittersRCV000165854RCV000236825RCV000637498RCV003995460
NM_000059.4(BRCA2):c.5195T>C (p.Leu1732Pro) SNV
Germline		 Chr13:32339550 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021653 rs_786202208

3 SubmittersRCV000164917RCV000558082
NM_000059.4(BRCA2):c.5200G>A (p.Glu1734Lys) SNV
Germline		 Chr13:32339555 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA021678 rs_786202543

10 SubmittersRCV000165399RCV000205413RCV000485722RCV001804894RCV003153445
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe) SNV
Germline		 Chr13:32339575 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA021766 rs_750671399

9 SubmittersRCV000166604RCV001234607RCV003329247RCV002485034RCV003995516
NM_000059.4(BRCA2):c.5233A>G (p.Met1745Val) SNV
Germline		 Chr13:32339588 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA021819 rs_786202206

4 SubmittersRCV000164911RCV000792468
NM_000059.4(BRCA2):c.5321C>T (p.Pro1774Leu) SNV
Germline		 Chr13:32339676 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022016 rs_786203835

4 SubmittersRCV000167315RCV000637795
NM_000059.4(BRCA2):c.5345A>C (p.Gln1782Pro) SNV
Germline		 Chr13:32339700 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA022082 rs_758959174

5 SubmittersRCV000164770RCV001213972RCV001550935RCV003995364
NM_000059.4(BRCA2):c.5353A>G (p.Thr1785Ala) SNV
Germline		 Chr13:32339708 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA022130 rs_786202394

7 SubmittersRCV000467313RCV000772755RCV000985544RCV001193882RCV003995398
NM_000059.4(BRCA2):c.5535G>C (p.Arg1845Ser) SNV
Germline		 Chr13:32339890 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022501 rs_786201997

4 SubmittersRCV000164573RCV000637602
NM_000059.4(BRCA2):c.5537T>C (p.Ile1846Thr) SNV
Germline		 Chr13:32339892 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022511 rs_763330257

5 SubmittersRCV000165182RCV001207899RCV003316038RCV001812144
NM_000059.4(BRCA2):c.5591A>G (p.Asp1864Gly) SNV
Germline		 Chr13:32339946 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA022654 rs_786202808

4 SubmittersRCV000165818RCV000412174RCV000820675
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys) SNV
Germline		 Chr13:32339981 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA022738 rs_397507793

8 SubmittersRCV000164837RCV000637513RCV000758910RCV001824652RCV003995368
NM_000059.4(BRCA2):c.5635G>T (p.Glu1879Ter) SNV
Germline		 Chr13:32339990 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Gastric cancer
Familial cancer of breast		 Reviewed By Expert Panel
 CA022785 rs_55996097

11 SubmittersRCV000165477RCV000241263RCV000508159RCV000706650RCV003162701RCV003474867
NM_000059.4(BRCA2):c.5659A>G (p.Thr1887Ala) SNV
Germline		 Chr13:32340014 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA022882 rs_786202618

7 SubmittersRCV000165513RCV000436206RCV000553184RCV003995422
NM_000059.4(BRCA2):c.5674G>A (p.Gly1892Ser) SNV
Germline		 Chr13:32340029 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA022938 rs_786203948

7 SubmittersRCV000167472RCV000695914RCV000985549RCV000989041RCV001255551
NM_000059.4(BRCA2):c.5677T>G (p.Cys1893Gly) SNV
Germline		 Chr13:32340032 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA022949 rs_786203261

7 SubmittersRCV000166490RCV000504158RCV001850344RCV003483544
NM_000059.4(BRCA2):c.5702A>T (p.Glu1901Val) SNV
Germline		 Chr13:32340057 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023011 rs_773600818

9 SubmittersRCV000166961RCV000531229RCV000663324RCV002464137
NM_000059.4(BRCA2):c.5704G>T (p.Asp1902Tyr) SNV
Germline		 Chr13:32340059 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023017 rs_4987048

6 SubmittersRCV000167499RCV000236520RCV000696829
NM_000059.4(BRCA2):c.5778T>A (p.Ser1926Arg) SNV
Germline		 Chr13:32340133 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023215 rs_772324268

3 SubmittersRCV000164880RCV003644921
NM_000059.4(BRCA2):c.5792A>G (p.Gln1931Arg) SNV
Germline		 Chr13:32340147 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA023244 rs_786202537

5 SubmittersRCV000165387RCV001233270RCV003995414
NM_000059.4(BRCA2):c.5796T>A (p.His1932Gln) SNV
Germline		 Chr13:32340151 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023252 rs_786203515

3 SubmittersRCV000166852RCV001325508
NM_000059.4(BRCA2):c.5808G>A (p.Met1936Ile) SNV
Germline		 Chr13:32340163 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023262 rs_759138390

11 SubmittersRCV000165123RCV000457784RCV000663021RCV001818377RCV001283931
NM_000059.4(BRCA2):c.5987C>G (p.Ala1996Gly) SNV
Germline		 Chr13:32340342 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA023462 rs_80358834

6 SubmittersRCV000167386RCV001301365RCV003150032RCV003607254
NM_000059.4(BRCA2):c.5993A>C (p.Gln1998Pro) SNV
Germline		 Chr13:32340348 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023474 rs_80358835

4 SubmittersRCV000164697RCV000758916RCV002515145
NM_000059.4(BRCA2):c.6062A>G (p.His2021Arg) SNV
Germline		 Chr13:32340417 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA023588 rs_780621780

6 SubmittersRCV000165232RCV000588995RCV001364172RCV003483536
NM_000059.4(BRCA2):c.6094G>A (p.Ala2032Thr) SNV
Germline		 Chr13:32340449 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023640 rs_786203284

3 SubmittersRCV000166519RCV000703786
NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val) SNV
Germline		 Chr13:32340450 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA023642 rs_786202701

8 SubmittersRCV000165642RCV000229460RCV001284097RCV003491902RCV003995442
NM_000059.4(BRCA2):c.6113A>G (p.His2038Arg) SNV
Germline		 Chr13:32340468 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023665 rs_786203039

4 SubmittersRCV000166172RCV000702688RCV003477625
NM_000059.4(BRCA2):c.6155C>A (p.Ser2052Ter) SNV
Germline		 Chr13:32340510 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA023704 rs_786202461

6 SubmittersRCV000165281RCV000241265RCV000758921RCV001047465RCV003462167
NM_000059.4(BRCA2):c.6160G>A (p.Ala2054Thr) SNV
Germline		 Chr13:32340515 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA023706 rs_80358855

6 SubmittersRCV000167216RCV001850364RCV002267922
NM_000059.4(BRCA2):c.6253T>G (p.Leu2085Val) SNV
Germline		 Chr13:32340608 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023788 rs_761996223

4 SubmittersRCV000165245RCV001850313
NM_000059.4(BRCA2):c.6445A>G (p.Ile2149Val) SNV
Germline		 Chr13:32340800 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024052 rs_786202013

3 SubmittersRCV000164603RCV001337627
NM_000059.4(BRCA2):c.6467C>T (p.Ser2156Phe) SNV
Germline		 Chr13:32340822 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA024085 rs_765575482

9 SubmittersRCV000165921RCV000227586RCV000663149RCV001726015RCV001269137RCV003607252
NM_000059.4(BRCA2):c.6482A>G (p.Asp2161Gly) SNV
Germline		 Chr13:32340837 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA024097 rs_786201744

5 SubmittersRCV000164193RCV001071522RCV001582645
NM_000059.4(BRCA2):c.6497T>C (p.Val2166Ala) SNV
Germline		 Chr13:32340852 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024117 rs_786202572

3 SubmittersRCV000165437RCV002516481
NM_000059.4(BRCA2):c.6553G>A (p.Ala2185Thr) SNV
Germline		 Chr13:32340908 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA024164 rs_746070652

4 SubmittersRCV000165385RCV000637749RCV001580461
NM_000059.4(BRCA2):c.6691G>A (p.Ala2231Thr) SNV
Germline		 Chr13:32341046 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA024298 rs_758379999

7 SubmittersRCV000166928RCV000637506RCV000589983RCV003995545
NM_000059.4(BRCA2):c.6694A>G (p.Lys2232Glu) SNV
Germline		 Chr13:32341049 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA024303 rs_781219481

3 SubmittersRCV000164702RCV001364516
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile) SNV
Germline		 Chr13:32341050 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA024305 rs_786203098

5 SubmittersRCV000166254RCV000818545RCV002492668RCV003995492
NM_000059.4(BRCA2):c.6724G>A (p.Asp2242Asn) SNV
Germline		 Chr13:32341079 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA024342 rs_786202002

6 SubmittersRCV000164581RCV000542638RCV000590771RCV003493472
NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr) SNV
Germline		 Chr13:32341116 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA024385 rs_786202915

12 SubmittersRCV000165980RCV000238769RCV000479534RCV000530254RCV000587444RCV000735581RCV001354021
NM_000059.4(BRCA2):c.6829C>T (p.Leu2277Phe) SNV
Germline		 Chr13:32341184 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA024470 rs_786202214

7 SubmittersRCV000164928RCV000702609RCV001201234RCV003322754
NM_000059.4(BRCA2):c.7373A>G (p.Asn2458Ser) SNV
Germline		 Chr13:32355226 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025045 rs_786202262

3 SubmittersRCV000164985RCV000476898
NM_000059.4(BRCA2):c.7417T>C (p.Cys2473Arg) SNV
Germline		 Chr13:32355270 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025070 rs_786202720

3 SubmittersRCV000165673RCV000694064RCV001092808
NM_000059.4(BRCA2):c.7457A>G (p.Asn2486Ser) SNV
Germline		 Chr13:32356449 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA025096 rs_786203755

8 SubmittersRCV000167198RCV000255521RCV000637396RCV004567333RCV003454420
NM_000059.4(BRCA2):c.7499G>A (p.Arg2500Lys) SNV
Germline		 Chr13:32356491 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA025118 rs_80358976

4 SubmittersRCV000166203RCV000794184RCV000989065
NM_000059.4(BRCA2):c.7508T>A (p.Val2503Asp) SNV
Germline		 Chr13:32356500 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025125 rs_786203292

3 SubmittersRCV000166533RCV001284440RCV003644925
NM_000059.4(BRCA2):c.7559G>T (p.Arg2520Leu) SNV
Germline		 Chr13:32356551 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025149 rs_80358982

3 SubmittersRCV000166867RCV000637575
NM_000059.4(BRCA2):c.7604G>A (p.Cys2535Tyr) SNV
Germline		 Chr13:32356596 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA025177 rs_786203482

5 SubmittersRCV000166802RCV000507296RCV000809247RCV004019989
NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys) SNV
Germline		 Chr13:32357926 Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025278 rs_786202344

3 SubmittersRCV000165105RCV000227777RCV001171447
NM_000059.4(BRCA2):c.7901T>C (p.Met2634Thr) SNV
Germline		 Chr13:32362618 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025326 rs_786202102

2 SubmittersRCV000164748RCV001338140
NM_000059.4(BRCA2):c.7939C>G (p.Leu2647Val) SNV
Germline		 Chr13:32362656 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA025345 rs_778391123

6 SubmittersRCV000165643RCV000466343RCV000731869RCV003387782
NM_000059.4(BRCA2):c.7976+5G>A SNV
Germline		 Chr13:32362698 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025367 rs_786201180

8 SubmittersRCV000162937RCV000258212RCV000496302RCV000586885RCV000637349
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met) SNV
Germline		 Chr13:32363187 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025383 rs_431825362

9 SubmittersRCV000163213RCV000588790RCV000989069RCV001175366RCV001081809
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser) SNV
Germline		 Chr13:32363209 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025398 rs_143999963

6 SubmittersRCV000163073RCV000637317RCV000765141RCV001753553RCV004567230
NM_000059.4(BRCA2):c.8011G>T (p.Ala2671Ser) SNV
Germline		 Chr13:32363213 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025405 rs_786201976

5 SubmittersRCV000164537RCV001800483RCV001207806
NM_000059.4(BRCA2):c.8233C>G (p.Leu2745Val) SNV
Germline		 Chr13:32363435 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025530 rs_786201752

3 SubmittersRCV000164205RCV003530000
NM_000059.4(BRCA2):c.8293T>G (p.Cys2765Gly) SNV
Germline		 Chr13:32363495 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025552 rs_768247528

11 SubmittersRCV000165936RCV000226067RCV000239098RCV000478794RCV001193319RCV004567290
NM_000059.4(BRCA2):c.8321T>G (p.Leu2774Arg) SNV
Germline		 Chr13:32363523 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025569 rs_786203278

2 SubmittersRCV000166512RCV000553827
NM_000059.4(BRCA2):c.8332-1G>T SNV
Germline		 Chr13:32370401 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA025584 rs_397507979

7 SubmittersRCV000164696RCV000258264RCV000586321RCV001311842
NM_000059.4(BRCA2):c.8354C>T (p.Pro2785Leu) SNV
Germline		 Chr13:32370424 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025597 rs_786202034

6 SubmittersRCV000164641RCV000412223RCV000779934RCV000821790RCV003153442RCV003474862
NM_000059.4(BRCA2):c.8447G>A (p.Gly2816Asp) SNV
Germline		 Chr13:32370517 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA025648 rs_56096120

6 SubmittersRCV000164294RCV000409132RCV000637368RCV003477608
NM_000059.4(BRCA2):c.8450G>T (p.Cys2817Phe) SNV
Germline		 Chr13:32370520 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025649 rs_786201992

10 SubmittersRCV000164566RCV000506092RCV000229582RCV000985253RCV003234771RCV003462142
NM_000059.4(BRCA2):c.8479C>T (p.Pro2827Ser) SNV
Germline		 Chr13:32370549 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA025662 rs_786202484

3 SubmittersRCV000165319RCV001551664RCV001850315
NM_000059.4(BRCA2):c.8739C>G (p.Asp2913Glu) SNV
Germline		 Chr13:32376776 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA025798 rs_786201996

8 SubmittersRCV000164571RCV000257980RCV000238725RCV000768610RCV002509265RCV004567247
NM_000059.4(BRCA2):c.9146A>G (p.Tyr3049Cys) SNV
Germline		 Chr13:32380035 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026003 rs_200924727

2 SubmittersRCV000167158RCV001062357
NM_000059.4(BRCA2):c.9205T>C (p.Cys3069Arg) SNV
Germline		 Chr13:32380094 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA026030 rs_398122611

6 SubmittersRCV000167488RCV001216692RCV001818400RCV003493479
NM_000059.4(BRCA2):c.9209C>T (p.Ser3070Phe) SNV
Germline		 Chr13:32380098 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA026034 rs_747837583

7 SubmittersRCV000166326RCV000220690RCV000554071RCV003462211RCV003995500
NM_000059.4(BRCA2):c.9956C>T (p.Ser3319Phe) SNV
Germline		 Chr13:32398469 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA026347 rs_778694116

2 SubmittersRCV000165317RCV000815048
NM_000059.4(BRCA2):c.10069A>G (p.Thr3357Ala) SNV
Germline		 Chr13:32398582 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA010123 rs_786203411

4 SubmittersRCV000166704RCV000425088RCV000706992RCV003995526
NM_000059.4(BRCA2):c.10085T>C (p.Phe3362Ser) SNV
Germline		 Chr13:32398598 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA010174 rs_756978580

6 SubmittersRCV000163731RCV001508343RCV001055211
NM_024675.4(PALB2):c.2748+1G>T SNV
Germline		 Chr16:23626235 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA193676 rs_753153576

10 SubmittersRCV000165555RCV000487378RCV000635768RCV003155927
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter) SNV
Germline		 Chr16:23629818 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
PALB2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA194883 rs_764509489

10 SubmittersRCV000166057RCV000457524RCV000480723RCV003226227RCV004528915
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys) SNV
Germline		 Chr16:23629926 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA189784 rs_141749524

11 SubmittersRCV000164010RCV000197626RCV000255110RCV000296163RCV000781684RCV001030648RCV003150010
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) SNV
Germline		 Chr16:23635095 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Basal cell carcinoma
Generalized hypopigmentation
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA197580 rs_786203714

12 SubmittersRCV000167136RCV000414940RCV000587378RCV001310142RCV001356904RCV001543564
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) SNV
Germline		 Chr16:23635167 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
Familial cancer of breast
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA196834 rs_749494645

12 SubmittersRCV000166836RCV000289282RCV000483813RCV000989572RCV000780567RCV001030716
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter) SNV
Germline		 Chr16:23635606 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA197949 rs_786203821

9 SubmittersRCV000167296RCV000463323RCV000523563RCV000586368
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) SNV
Germline		 Chr17:35101206 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Neoplasm of ovary
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA190870 rs_750621215

19 SubmittersRCV000164406RCV000227954RCV000235877RCV000709431RCV001356854RCV001798583RCV002463438RCV003162688
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr) SNV
Germline		 Chr17:43045697 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA003728 rs_755427809

9 SubmittersRCV000166098RCV000204222RCV000239189RCV000662947
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala) SNV
Germline		 Chr17:43047681 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Malignant tumor of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA003590 rs_80357451

11 SubmittersRCV000165514RCV000500971RCV000662954RCV000759560RCV001357837RCV002265645
NM_007294.4(BRCA1):c.5419A>G (p.Ile1807Val) SNV
Germline		 Chr17:43047691 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA003583 rs_786202721

5 SubmittersRCV000165675RCV001041837RCV001077384
NM_007294.4(BRCA1):c.5396C>T (p.Thr1799Ile) SNV
Germline		 Chr17:43049131 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003548 rs_786201945

5 SubmittersRCV000164491RCV001077314RCV001355404RCV002515141
NM_007294.4(BRCA1):c.5278-3C>T SNV
Germline		 Chr17:43051120 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003438 rs_786203963

3 SubmittersRCV000167493RCV001076747RCV001338264
NM_007294.4(BRCA1):c.5177G>T (p.Arg1726Ile) SNV
Germline		 Chr17:43063349 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA003325 rs_786203547

5 SubmittersRCV000166906RCV000688928RCV000985432RCV001072432
NM_007294.4(BRCA1):c.5153-2A>G SNV
Germline		 Chr17:43063375 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA003300 rs_786202545

4 SubmittersRCV000165403RCV000258356RCV000464976
NM_007294.4(BRCA1):c.5147A>C (p.Tyr1716Ser) SNV
Germline		 Chr17:43063879 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003270 rs_587782456

3 SubmittersRCV000166853RCV001076448RCV002516510
NM_007294.4(BRCA1):c.4834C>T (p.Gln1612Ter) SNV
Germline		 Chr17:43071080 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA003041 rs_786202064

7 SubmittersRCV000164690RCV000241386RCV000496345
NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys) SNV
Germline		 Chr17:43071138 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA003018 rs_761925468

10 SubmittersRCV000162819RCV000485047RCV000590715RCV000616786RCV000697143RCV001353751
NM_007294.4(BRCA1):c.4775A>G (p.Asn1592Ser) SNV
Germline		 Chr17:43071139 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003017 rs_786203699

2 SubmittersRCV000167119RCV000548491
NM_007294.4(BRCA1):c.4675+1G>T SNV
Germline		 Chr17:43074330 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002958 rs_80358044

3 SubmittersRCV000164823RCV000546055RCV002247568
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter) SNV
Germline		 Chr17:43074483 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4		 Reviewed By Expert Panel
 CA002892 rs_786202631

8 SubmittersRCV000165536RCV000241110RCV000508652RCV000793994RCV003398845
NM_007294.4(BRCA1):c.4505C>A (p.Pro1502Gln) SNV
Germline		 Chr17:43074501 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002888 rs_56335406

3 SubmittersRCV000164552RCV000554945
NM_007294.4(BRCA1):c.4297A>G (p.Ile1433Val) SNV
Germline		 Chr17:43082464 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA002754 rs_541512953

5 SubmittersRCV000166435RCV000486992RCV000539071RCV003335162
NM_007294.4(BRCA1):c.4185+1G>A SNV
Germline		 Chr17:43090943 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002683 rs_80358076

6 SubmittersRCV000165984RCV000625282RCV001689709RCV002247571RCV001850328
NM_007294.4(BRCA1):c.4144T>A (p.Cys1382Ser) SNV
Germline		 Chr17:43090985 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002655 rs_786202106

6 SubmittersRCV000164753RCV000503432RCV000199782RCV001353678RCV001551019
NM_007294.4(BRCA1):c.4081A>G (p.Met1361Val) SNV
Germline		 Chr17:43091450 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA002609 rs_80357218

5 SubmittersRCV000165381RCV001297657RCV001770128RCV003330523
NM_007294.4(BRCA1):c.3965A>C (p.Lys1322Thr) SNV
Germline		 Chr17:43091566 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002538 rs_80357042

5 SubmittersRCV000164572RCV000696194RCV000757034
NM_007294.4(BRCA1):c.3901A>G (p.Ser1301Gly) SNV
Germline		 Chr17:43091630 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002511 rs_786203580

3 SubmittersRCV000166958RCV000808508
NM_007294.4(BRCA1):c.3874T>C (p.Ser1292Pro) SNV
Germline		 Chr17:43091657 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002497 rs_786203823

5 SubmittersRCV000167298RCV001221048RCV003477639
NM_007294.4(BRCA1):c.3857G>C (p.Ser1286Thr) SNV
Germline		 Chr17:43091674 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA002485 rs_142383077

7 SubmittersRCV000167518RCV000412224RCV000985410RCV001062471RCV003317123
NM_007294.4(BRCA1):c.3816C>A (p.Asn1272Lys) SNV
Germline		 Chr17:43091715 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002458 rs_786201893

4 SubmittersRCV000164411RCV001850296
NM_007294.4(BRCA1):c.3807C>G (p.Asp1269Glu) SNV
Germline		 Chr17:43091724 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002453 rs_786202569

3 SubmittersRCV000166592RCV003765042
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys) SNV
Germline		 Chr17:43091773 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
Breast and/or ovarian cancer
Malignant tumor of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S		 Criteria Provided
Conflicting Classifications
 CA002409 rs_397509100

13 SubmittersRCV000165814RCV000203862RCV000411367RCV000759525RCV001193747RCV001170594RCV001354503RCV002485026
NM_007294.4(BRCA1):c.3644A>G (p.Asn1215Ser) SNV
Germline		 Chr17:43091887 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002333 rs_786203310

3 SubmittersRCV000166562RCV002298495
NM_007294.4(BRCA1):c.3481G>T (p.Glu1161Ter) SNV
Germline		 Chr17:43092050 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002246 rs_786203438

4 SubmittersRCV000166742RCV000241297RCV000461437RCV000759524
NM_007294.4(BRCA1):c.3428C>G (p.Ser1143Cys) SNV
Germline		 Chr17:43092103 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002217 rs_80357434

4 SubmittersRCV000166741RCV000469615RCV000759521
NM_007294.4(BRCA1):c.3411G>A (p.Met1137Ile) SNV
Germline		 Chr17:43092120 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA002205 rs_786202900

5 SubmittersRCV000165959RCV000197284RCV000410247
NM_007294.4(BRCA1):c.3394A>G (p.Asn1132Asp) SNV
Germline		 Chr17:43092137 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA002194 rs_530464947

9 SubmittersRCV000162693RCV000231870RCV001174651RCV001283894RCV003995212
NM_007294.4(BRCA1):c.3358G>A (p.Val1120Ile) SNV
Germline		 Chr17:43092173 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA002179 rs_748894760

8 SubmittersRCV000163154RCV000200265RCV000410885RCV000235337RCV004554724
NM_007294.4(BRCA1):c.3248T>C (p.Met1083Thr) SNV
Germline		 Chr17:43092283 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA002100 rs_786203958

5 SubmittersRCV000167486RCV000505886RCV001202434
NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val) SNV
Germline		 Chr17:43092284 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA002099 rs_397507213

8 SubmittersRCV000164419RCV000236937RCV000473151RCV001353671RCV001526884RCV003995341
NM_007294.4(BRCA1):c.3221G>C (p.Arg1074Thr) SNV
Germline		 Chr17:43092310 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA002088 rs_786202155

7 SubmittersRCV000164826RCV000205205RCV000662432RCV003233478RCV003398837
NM_007294.4(BRCA1):c.3211G>A (p.Glu1071Lys) SNV
Germline		 Chr17:43092320 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA002083 rs_41293445

8 SubmittersRCV000164153RCV000255764RCV001081229RCV002271434RCV003995319RCV004554730
NM_007294.4(BRCA1):c.3157G>T (p.Glu1053Ter) SNV
Germline		 Chr17:43092374 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA002058 rs_786203587

4 SubmittersRCV000166966RCV000241281RCV001058924RCV003314570
NM_007294.4(BRCA1):c.3083G>T (p.Arg1028Leu) SNV
Germline		 Chr17:43092448 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002022 rs_80357459

9 SubmittersRCV000165320RCV000200747RCV001290537RCV003333739RCV003321532
NM_007294.4(BRCA1):c.3071G>A (p.Ser1024Asn) SNV
Germline		 Chr17:43092460 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002014 rs_757579891

7 SubmittersRCV000167469RCV000695024RCV001251419RCV001725131
NM_007294.4(BRCA1):c.3065C>T (p.Thr1022Ile) SNV
Germline		 Chr17:43092466 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA002011 rs_786202070

7 SubmittersRCV000164701RCV000409623RCV000470286RCV001800487
NM_007294.4(BRCA1):c.3010G>C (p.Glu1004Gln) SNV
Germline		 Chr17:43092521 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001961 rs_786202534

7 SubmittersRCV000165383RCV000206269RCV000587834
NM_007294.4(BRCA1):c.3004A>G (p.Asn1002Asp) SNV
Germline		 Chr17:43092527 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001957 rs_786202665

6 SubmittersRCV000165586RCV000506213RCV000637571RCV003995435
NM_007294.4(BRCA1):c.2987A>G (p.Lys996Arg) SNV
Germline		 Chr17:43092544 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001940 rs_786202898

6 SubmittersRCV000165957RCV000196543RCV001575053RCV003995465
NM_007294.4(BRCA1):c.2881A>C (p.Asn961His) SNV
Germline		 Chr17:43092650 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA001879 rs_786203786

4 SubmittersRCV000167239RCV001052361RCV002250582
NM_007294.4(BRCA1):c.2872T>C (p.Phe958Leu) SNV
Germline		 Chr17:43092659 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001875 rs_80356878

5 SubmittersRCV000166226RCV000637436RCV001122178
NM_007294.4(BRCA1):c.2773A>G (p.Ile925Val) SNV
Germline		 Chr17:43092758 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001826 rs_4986847

9 SubmittersRCV000164476RCV000235778RCV000459020RCV001192521RCV003995345
NM_007294.4(BRCA1):c.2765C>T (p.Thr922Ile) SNV
Germline		 Chr17:43092766 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001822 rs_80357460

3 SubmittersRCV000167154RCV003644927
NM_007294.4(BRCA1):c.2666C>T (p.Ser889Phe) SNV
Germline		 Chr17:43092865 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA001744 rs_769712441

8 SubmittersRCV000166405RCV000232849RCV000758802RCV002267918
NM_007294.4(BRCA1):c.2630A>G (p.Asn877Ser) SNV
Germline		 Chr17:43092901 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001725 rs_786203689

7 SubmittersRCV000167105RCV000705043RCV001170819RCV003321535RCV003995556
NM_007294.4(BRCA1):c.2564A>C (p.Gln855Pro) SNV
Germline		 Chr17:43092967 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001691 rs_768001441

7 SubmittersRCV000165754RCV000637567RCV000506725RCV000758797
NM_007294.4(BRCA1):c.2536G>A (p.Glu846Lys) SNV
Germline		 Chr17:43092995 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001677 rs_786203523

5 SubmittersRCV000166865RCV001369638RCV001269093
NM_007294.4(BRCA1):c.2518A>G (p.Ser840Gly) SNV
Germline		 Chr17:43093013 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001667 rs_377475866

8 SubmittersRCV000167194RCV000232315RCV000759508RCV001193116RCV003995572
NM_007294.4(BRCA1):c.2500G>C (p.Gly834Arg) SNV
Germline		 Chr17:43093031 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001658 rs_786202215

6 SubmittersRCV000164931RCV000695556RCV000590464
NM_007294.4(BRCA1):c.2410C>G (p.Gln804Glu) SNV
Germline		 Chr17:43093121 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA001602 rs_80356982

4 SubmittersRCV000166373RCV001348588
NM_007294.4(BRCA1):c.2281G>C (p.Glu761Gln) SNV
Germline		 Chr17:43093250 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001521 rs_397507198

6 SubmittersRCV000165203RCV001235784RCV002267912RCV001815240RCV003483535
NM_007294.4(BRCA1):c.2218G>T (p.Val740Leu) SNV
Germline		 Chr17:43093313 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA001489 rs_80357415

5 SubmittersRCV000164916RCV000539119RCV000662700RCV001328454
NM_007294.4(BRCA1):c.1966A>G (p.Asn656Asp) SNV
Germline		 Chr17:43093565 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001312 rs_786203455

4 SubmittersRCV000166768RCV001850355RCV003483549
NM_007294.4(BRCA1):c.1838G>A (p.Arg613Lys) SNV
Germline		 Chr17:43093693 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001198 rs_786203937

5 SubmittersRCV000167455RCV000473402RCV001283892
NM_007294.4(BRCA1):c.1775G>A (p.Ser592Asn) SNV
Germline		 Chr17:43093756 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001156 rs_786203044

7 SubmittersRCV000166178RCV000697218RCV000989902RCV001358638
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met) SNV
Germline		 Chr17:43093786 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001143 rs_786202386

8 SubmittersRCV000165167RCV000227464RCV000764124RCV001128034RCV001555644
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly) SNV
Germline		 Chr17:43093807 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001129 rs_111539978

10 SubmittersRCV000165640RCV000234745RCV000587405RCV001420708RCV003995441
NM_007294.4(BRCA1):c.1713A>G (p.Ile571Met) SNV
Germline		 Chr17:43093818 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001123 rs_552505690

7 SubmittersRCV000165574RCV000458990RCV000662805RCV000985373
NM_007294.4(BRCA1):c.1702C>T (p.Pro568Ser) SNV
Germline		 Chr17:43093829 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001115 rs_755122577

4 SubmittersRCV000164418RCV000548977RCV001797648
NM_007294.4(BRCA1):c.1342C>T (p.His448Tyr) SNV
Germline		 Chr17:43094189 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA000880 rs_786203578

6 SubmittersRCV000166956RCV000239192RCV000549550RCV001192525
NM_007294.4(BRCA1):c.1300A>G (p.Ser434Gly) SNV
Germline		 Chr17:43094231 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000850 rs_786203753

4 SubmittersRCV000167196RCV003316061RCV002516516
NM_007294.4(BRCA1):c.1286T>C (p.Ile429Thr) SNV
Germline		 Chr17:43094245 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA000840 rs_775869160

6 SubmittersRCV000167163RCV000637559RCV001800506RCV003995567
NM_007294.4(BRCA1):c.1226T>C (p.Val409Ala) SNV
Germline		 Chr17:43094305 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000802 rs_786202539

5 SubmittersRCV000165390RCV001209309RCV001770129
NM_007294.4(BRCA1):c.1186G>A (p.Asp396Asn) SNV
Germline		 Chr17:43094345 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000782 rs_786203145

4 SubmittersRCV000166322RCV000815438
NM_007294.4(BRCA1):c.1163G>C (p.Arg388Thr) SNV
Germline		 Chr17:43094368 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000769 rs_786203567

3 SubmittersRCV000166942RCV001321385
NM_007294.4(BRCA1):c.1131C>A (p.Ser377Arg) SNV
Germline		 Chr17:43094400 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000757 rs_786203434

5 SubmittersRCV000166736RCV000411948RCV001204055
NM_007294.4(BRCA1):c.985A>T (p.Asn329Tyr) SNV
Germline		 Chr17:43094546 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA004000 rs_786203732

8 SubmittersRCV000167164RCV000196902RCV000759566RCV003995568
NM_007294.4(BRCA1):c.845C>T (p.Ser282Leu) SNV
Germline		 Chr17:43094686 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003936 rs_786203027

4 SubmittersRCV000166150RCV000824141RCV003480070
NM_007294.4(BRCA1):c.811G>T (p.Val271Leu) SNV
Germline		 Chr17:43094720 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003908 rs_80357244

3 SubmittersRCV000167147RCV000689692
NM_007294.4(BRCA1):c.683T>A (p.Phe228Tyr) SNV
Germline		 Chr17:43094848 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA003812 rs_191872612

5 SubmittersRCV000166112RCV000503325RCV001042814
NM_007294.4(BRCA1):c.212G>T (p.Arg71Met) SNV
Germline		 Chr17:43106456 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001421 rs_80356913

5 SubmittersRCV000165177RCV000258240RCV000496554RCV001053345
NM_007294.4(BRCA1):c.101C>T (p.Pro34Leu) SNV
Germline		 Chr17:43115759 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000691 rs_786203319

4 SubmittersRCV000166579RCV001076184RCV001284282RCV001850347
NM_007294.4(BRCA1):c.20G>A (p.Arg7His) SNV
Germline		 Chr17:43124077 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA001390 rs_144792613

11 SubmittersRCV000164210RCV000543291RCV000588310RCV000764129RCV001072325
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter) SNV
Germline		 Chr17:58703254 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA190934 rs_786201909

9 SubmittersRCV000164432RCV000529934RCV000657719RCV001798584RCV001194263RCV003467296
NM_058216.3(RAD51C):c.635G>A (p.Arg212His) SNV
Germline		 Chr17:58703259 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Ovarian cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA198151 rs_200857129

13 SubmittersRCV000167379RCV000409423RCV000412279RCV000588404RCV001030587RCV002505216RCV003153459RCV002295286
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) SNV
Germline		 Chr17:58709862 Pathogenic Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Breast carcinoma
Breast-ovarian cancer, familial, susceptibility to, 3
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA194618 rs_770637624

17 SubmittersRCV000165947RCV000233212RCV000484844RCV000576766RCV000709509RCV001554261RCV001356354RCV003162706
NM_058216.3(RAD51C):c.870T>A (p.Ile290=) SNV
Germline		 Chr17:58720778 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA189363 rs_376402418

11 SubmittersRCV000163858RCV000204484RCV000709515RCV001640217RCV001798579RCV001818371RCV001356136
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) SNV
Germline		 Chr17:61808634 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Neoplasm of ovary
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA193144 rs_752309409

14 SubmittersRCV000165345RCV000219928RCV000206065RCV000662796RCV002225482RCV001781512RCV003316042
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter) SNV
Germline		 Chr17:61849152 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Gastric cancer
BRIP1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA194744 rs_747604569

10 SubmittersRCV000166003RCV000198978RCV000484711RCV000588178RCV001781513RCV003335159RCV003162707RCV004539556
NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu) SNV
Germline		 Chr13:32336744 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA015104 rs_587782737

11 SubmittersRCV000168301RCV000574060RCV000496950RCV000985478RCV003995622
NM_000059.4(BRCA2):c.3071T>C (p.Ile1024Thr) SNV
Germline		 Chr13:32337426 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA017158 rs_764921920

7 SubmittersRCV000167880RCV000564299RCV000587236RCV000662817RCV000855582
NM_000059.4(BRCA2):c.3346A>G (p.Thr1116Ala) SNV
Germline		 Chr13:32337701 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA017810 rs_786204212

4 SubmittersRCV000168327RCV001191384
NM_000059.4(BRCA2):c.4204A>C (p.Asn1402His) SNV
Germline		 Chr13:32338559 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA019715 rs_786204062

5 SubmittersRCV000167928RCV000222929RCV001284423
NM_000059.4(BRCA2):c.4627A>G (p.Lys1543Glu) SNV
Germline		 Chr13:32338982 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA020550 rs_786204239

7 SubmittersRCV000168397RCV000569285RCV000985531RCV000989031
NM_000059.4(BRCA2):c.5675G>A (p.Gly1892Asp) SNV
Germline		 Chr13:32340030 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022943 rs_786204067

4 SubmittersRCV000167952RCV000776356
NM_000059.4(BRCA2):c.5969A>G (p.Asp1990Gly) SNV
Germline		 Chr13:32340324 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023435 rs_148618542

4 SubmittersRCV000168315RCV000567352
NM_000059.4(BRCA2):c.9160C>T (p.Pro3054Ser) SNV
Germline		 Chr13:32380049 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA026009 rs_786204070

5 SubmittersRCV000167956RCV001185075RCV001731497RCV004567359
NM_007294.4(BRCA1):c.3091A>G (p.Ile1031Val) SNV
Germline		 Chr17:43092440 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA002024 rs_786203979

5 SubmittersRCV000168281RCV000708677RCV004554741
NM_007294.4(BRCA1):c.2425G>A (p.Glu809Lys) SNV
Germline		 Chr17:43093106 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA001619 rs_786204151

7 SubmittersRCV000168142RCV000569597RCV000662597RCV000985388
NM_007294.4(BRCA1):c.2231C>A (p.Ala744Asp) SNV
Germline		 Chr17:43093300 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001494 rs_786204220

3 SubmittersRCV000168347RCV001014829
NM_007294.4(BRCA1):c.1925A>G (p.Asp642Gly) SNV
Germline		 Chr17:43093606 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001272 rs_786204049

4 SubmittersRCV000167894RCV000571477
NM_007294.4(BRCA1):c.1802A>G (p.His601Arg) SNV
Germline		 Chr17:43093729 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA001172 rs_371631805

9 SubmittersRCV000168128RCV000220587RCV000587213RCV000663081RCV003323423
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg) SNV
Germline		 Chr13:32332289 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA025461 rs_786204274

10 SubmittersRCV000218275RCV000560451RCV000657096RCV001170224RCV001193280RCV003491925
NM_000059.4(BRCA2):c.1594G>A (p.Glu532Lys) SNV
Germline		 Chr13:32333072 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA012531 rs_138734772

8 SubmittersRCV000210974RCV000502252RCV000759578RCV000804265RCV001012315
NM_000059.4(BRCA2):c.4898T>C (p.Ile1633Thr) SNV
Germline		 Chr13:32339253 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA020977 rs_80358714

5 SubmittersRCV000220621RCV001850380RCV003736616
NM_000059.4(BRCA2):c.5173G>A (p.Ala1725Thr) SNV
Germline		 Chr13:32339528 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786204275

2 SubmittersRCV002020348RCV003157041
NM_000059.4(BRCA2):c.5465A>G (p.Asn1822Ser) SNV
Germline		 Chr13:32339820 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022360 rs_587781580

4 SubmittersRCV001284432RCV001348712RCV002345560
NM_000059.4(BRCA2):c.5926G>A (p.Gly1976Arg) SNV
Germline		 Chr13:32340281 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023376 rs_786204277

3 SubmittersRCV001341135RCV002354410
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr) SNV
Germline		 Chr13:32340372 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA023520 rs_144784912

9 SubmittersRCV000204206RCV000239063RCV000570534RCV000735579RCV001762394RCV002250584
NM_000059.4(BRCA2):c.7008-1G>A SNV
Germline		 Chr13:32354860 Pathogenic Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA024727 rs_786204280

8 SubmittersRCV000168595RCV000258461RCV000582155RCV001213985RCV002264916
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=) SNV
Germline		 Chr13:32363209 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA025397 rs_143999963

10 SubmittersRCV000231287RCV000565818RCV000662966RCV000590364RCV001711340RCV004535144
NM_000059.4(BRCA2):c.9472A>G (p.Thr3158Ala) SNV
Germline		 Chr13:32394904 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA026172 rs_786204284

8 SubmittersRCV000572867RCV000980470RCV000779966RCV001564816RCV003995629
NM_007294.4(BRCA1):c.1598A>G (p.Asn533Ser) SNV
Germline		 Chr17:43093933 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001061 rs_786204263

2 SubmittersRCV001227665RCV003157437
NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro) SNV
Germline		 Chr13:32398615 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA010245 rs_786205482

8 SubmittersRCV000171217RCV000726705RCV001016988RCV001372516RCV003316073
NM_000059.4(BRCA2):c.1039C>A (p.Gln347Lys) SNV
Germline		 Chr13:32332517 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA010623 rs_794726967

4 SubmittersRCV000173632RCV001038733RCV002390417
NM_000059.4(BRCA2):c.1909+11C>T SNV
Germline		 Chr13:32333398 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013814 rs_794726968

2 SubmittersRCV000173636RCV002517665
NM_000059.4(BRCA2):c.1909+9G>T SNV
Germline		 Chr13:32333396 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA013869 rs_794726969

3 SubmittersRCV000173637RCV002281997RCV002516595
NM_007294.4(BRCA1):c.2980T>C (p.Cys994Arg) SNV
Germline		 Chr17:43092551 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA001938 rs_144853230

5 SubmittersRCV000173832RCV000556672RCV001017761RCV001328426
NM_007294.4(BRCA1):c.1880T>G (p.Val627Gly) SNV
Germline		 Chr17:43093651 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001221 rs_770002293

4 SubmittersRCV000173842RCV001236105RCV002250586RCV003157439
NM_000059.4(BRCA2):c.3451A>C (p.Ile1151Leu) SNV
Germline		 Chr13:32337806 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA018059 rs_80358591

3 SubmittersRCV000173971RCV001327054RCV003157440
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn) SNV
Germline		 Chr13:32325184 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA019818 rs_397507713

8 SubmittersRCV000258256RCV000509645RCV000548158RCV000727660RCV003474932RCV003317129
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys) SNV
Germline		 Chr5:60898280 Conflicting classifications of pathogenicity not specified
Cockayne syndrome type 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
ERCC8-related disorder		 Criteria Provided
Conflicting Classifications
 CA247938 rs_61754098

7 SubmittersRCV000180462RCV000332330RCV000584926RCV001374546RCV003917681
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) SNV
Germline		 Chr5:126559244 Pathogenic/Likely pathogenic Condition: not provided
Pyridoxine-dependent epilepsy
UDPglucose-4-epimerase deficiency
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA313172 rs_754449549

5 SubmittersRCV000186728RCV000796632RCV004526634RCV004539734
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) SNV
Germline/somatic		 Chr11:108259022 Pathogenic Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA338870 rs_780619951

18 SubmittersRCV000199790RCV000221009RCV000489745RCV000762818RCV001030523RCV003468893RCV003491940RCV003332139
NM_000059.4(BRCA2):c.1A>G (p.Met1Val) SNV
Germline		 Chr13:32316461 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 CA335967 rs_863224464

1 SubmittersRCV000195819
NM_000059.4(BRCA2):c.67+17T>C SNV
Germline		 Chr13:32316544 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA336016 rs_767648965

6 SubmittersRCV000411866RCV000580372RCV000679181RCV001086345
NM_000059.4(BRCA2):c.631+18G>A SNV
Germline		 Chr13:32326631 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA337361 rs_759965817

4 SubmittersRCV000197662RCV000781072RCV000580532RCV001636719
NM_000059.4(BRCA2):c.2287C>G (p.His763Asp) SNV
Germline		 Chr13:32336642 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA339089 rs_863224585

10 SubmittersRCV000200091RCV000496468RCV000563152RCV001358320RCV000985474RCV003996985
NM_000059.4(BRCA2):c.2671G>C (p.Val891Leu) SNV
Germline		 Chr13:32337026 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Cancer of the pancreas
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA337799 rs_756951335

8 SubmittersRCV000198310RCV000575746RCV000677822RCV001567191RCV002250593RCV003996986
NM_000059.4(BRCA2):c.2821G>A (p.Val941Met) SNV
Germline		 Chr13:32337176 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA338696 rs_863224586

5 SubmittersRCV000199529RCV001182032RCV003996987
NM_000059.4(BRCA2):c.3188A>T (p.Gln1063Leu) SNV
Germline		 Chr13:32337543 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA339239 rs_775030825

2 SubmittersRCV000200320RCV003157441
NM_000059.4(BRCA2):c.3994C>T (p.His1332Tyr) SNV
Germline		 Chr13:32338349 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA336760 rs_863224588

4 SubmittersRCV000196863RCV001176096
NM_000059.4(BRCA2):c.4704G>T (p.Lys1568Asn) SNV
Germline		 Chr13:32339059 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA336882 rs_863224589

3 SubmittersRCV000196983RCV002336541
NM_000059.4(BRCA2):c.4991T>C (p.Ile1664Thr) SNV
Germline		 Chr13:32339346 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA338267 rs_863224590

5 SubmittersRCV000198889RCV000571680RCV001334182RCV003996988
NM_000059.4(BRCA2):c.5527G>A (p.Ala1843Thr) SNV
Germline		 Chr13:32339882 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA337669 rs_863224594

2 SubmittersRCV000198130RCV003157442
NM_000059.4(BRCA2):c.5840C>T (p.Pro1947Leu) SNV
Germline		 Chr13:32340195 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA336367 rs_863224595

3 SubmittersRCV000196364RCV003157443RCV003996989
NM_000059.4(BRCA2):c.6022A>T (p.Lys2008Ter) SNV
Germline		 Chr13:32340377 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA335857 rs_863224467

2 SubmittersRCV000241423RCV000195698
NM_000059.4(BRCA2):c.6842-14A>T SNV
Germline		 Chr13:32344544 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA337311 rs_81002821

5 SubmittersRCV000197555RCV000579742RCV001539076RCV001194061RCV003996948
NM_000059.4(BRCA2):c.6916G>A (p.Ala2306Thr) SNV
Germline		 Chr13:32344632 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA337848 rs_730881550

6 SubmittersRCV000198357RCV000566440RCV000588806RCV003996990
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln) SNV
Germline		 Chr13:32354948 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA339258 rs_370708814

11 SubmittersRCV000200353RCV000222104RCV000768606RCV001193840RCV001565170RCV003462319RCV003996991RCV004530188
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg) SNV
Germline		 Chr13:32357806 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA336029 rs_55647716

9 SubmittersRCV000217467RCV000412336RCV000195904RCV000590423RCV003462320
NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter) SNV
Germline		 Chr13:32362589 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Reviewed By Expert Panel
 CA339124 rs_863224468

4 SubmittersRCV000200163RCV000241341RCV003456376
NM_000059.4(BRCA2):c.7916C>T (p.Pro2639Leu) SNV
Germline		 Chr13:32362633 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA338873 rs_774723315

9 SubmittersRCV000213138RCV000239039RCV000199791RCV000499513RCV000679188RCV001353687
NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter) SNV
Germline		 Chr13:32363345 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Reviewed By Expert Panel
 CA339029 rs_863224469

6 SubmittersRCV000199997RCV000221489RCV000238968RCV001283941
NM_000059.4(BRCA2):c.8420C>A (p.Ser2807Ter) SNV
Germline		 Chr13:32370490 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA336160 rs_55763607

3 SubmittersRCV000241130RCV000196106RCV000569423
NM_000059.4(BRCA2):c.9302T>C (p.Leu3101Pro) SNV
Germline		 Chr13:32394734 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA337754 rs_28897758

5 SubmittersRCV000198262RCV001589076RCV001193200RCV002372186
NM_000059.4(BRCA2):c.9501+6G>T SNV
Germline		 Chr13:32394939 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA339586 rs_863224600

3 SubmittersRCV000200853RCV000773161RCV001705158
NM_000059.4(BRCA2):c.10160C>G (p.Thr3387Ser) SNV
Germline		 Chr13:32398673 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA337034 rs_863224584

6 SubmittersRCV000222578RCV000197203RCV000613680RCV000662771
NM_007294.4(BRCA1):c.5309G>C (p.Gly1770Ala) SNV
Germline		 Chr17:43051086 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA338563 rs_863224765

6 SubmittersRCV000199320RCV001023894RCV001076781
NM_007294.4(BRCA1):c.5269G>C (p.Asp1757His) SNV
Germline		 Chr17:43057060 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA337215 rs_863224764

4 SubmittersRCV000197445RCV001072597RCV001190128
NM_007294.4(BRCA1):c.5036T>C (p.Leu1679Pro) SNV
Germline		 Chr17:43067646 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA053724 rs_760038328

6 SubmittersRCV000200826RCV001023450RCV001076271RCV002478710
NM_007294.4(BRCA1):c.4485-10A>G SNV
Germline		 Chr17:43074531 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA337423 rs_863224420

11 SubmittersRCV000197772RCV000599872RCV000579627RCV000758831RCV000989881RCV001090204RCV004554747
NM_007294.4(BRCA1):c.4474G>T (p.Gly1492Ter) SNV
Germline		 Chr17:43076498 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA337710 rs_863224511

2 SubmittersRCV000198178RCV000241009
NM_007294.4(BRCA1):c.4315C>T (p.Leu1439Phe) SNV
Germline		 Chr17:43082446 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA059903 rs_781260818

6 SubmittersRCV000197844RCV000221961RCV000439478RCV003493491
NM_007294.4(BRCA1):c.3707A>G (p.Asn1236Ser) SNV
Germline		 Chr17:43091824 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA338320 rs_863224760

5 SubmittersRCV000198979RCV000424940RCV000510050RCV001358174
NM_007294.4(BRCA1):c.3700G>C (p.Val1234Leu) SNV
Germline		 Chr17:43091831 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA337426 rs_763354142

8 SubmittersRCV000197777RCV000410498RCV000509979RCV000508617RCV003114360
NM_007294.4(BRCA1):c.3496G>C (p.Ala1166Pro) SNV
Germline		 Chr17:43092035 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA057832 rs_745418679

5 SubmittersRCV000200382RCV001770150RCV003157445
NM_007294.4(BRCA1):c.3356C>G (p.Thr1119Ser) SNV
Germline		 Chr17:43092175 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast cancer, susceptibility to
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA337866 rs_863224759

4 SubmittersRCV000198369RCV000656462RCV001020072
NM_007294.4(BRCA1):c.3092T>G (p.Ile1031Ser) SNV
Germline		 Chr17:43092439 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA336467 rs_863224758

6 SubmittersRCV000196493RCV000510033RCV000735487RCV000989892
NM_007294.4(BRCA1):c.2933A>G (p.Tyr978Cys) SNV
Germline		 Chr17:43092598 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA339108 rs_863224756

7 SubmittersRCV000200109RCV000771319RCV000780984RCV001127942
NM_007294.4(BRCA1):c.2750T>G (p.Ile917Ser) SNV
Germline		 Chr17:43092781 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA336403 rs_587781492

2 SubmittersRCV000196429RCV003157444
NM_007294.4(BRCA1):c.2554C>G (p.Leu852Val) SNV
Germline		 Chr17:43092977 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA337653 rs_863224754

4 SubmittersRCV000198115RCV000487931RCV001015913
NM_007294.4(BRCA1):c.1837A>G (p.Arg613Gly) SNV
Germline		 Chr17:43093694 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA336046 rs_863224753

9 SubmittersRCV000220811RCV000484390RCV001087756RCV002466464RCV004554749
NM_007294.4(BRCA1):c.1134C>A (p.Ser378Arg) SNV
Germline		 Chr17:43094397 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA336914 rs_863224752

9 SubmittersRCV000197019RCV000221820RCV000486943RCV000662726
NM_007294.4(BRCA1):c.941C>T (p.Ala314Val) SNV
Germline		 Chr17:43094590 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA335896 rs_863224766

3 SubmittersRCV000195725RCV001019329
NM_007294.4(BRCA1):c.135-11A>G SNV
Germline		 Chr17:43106544 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA053065 rs_769549104

4 SubmittersRCV000196214RCV000776481RCV001075899RCV001293611
NM_007294.4(BRCA1):c.81-17C>G SNV
Germline		 Chr17:43115796 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA059758 rs_757442952

8 SubmittersRCV000409501RCV000441560RCV000583744RCV000589921RCV001087073
NM_058216.3(RAD51C):c.905-2A>C SNV
Germline		 Chr17:58724038 Pathogenic/Likely pathogenic Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA338869 rs_779582317

9 SubmittersRCV000199789RCV000570941RCV001194258RCV003165464RCV003441777RCV003468897
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter) SNV
Germline		 Chr17:61793727 Pathogenic/Likely pathogenic Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA338228 rs_775171520

7 SubmittersRCV000198848RCV000449028RCV000586228RCV003477666RCV003335194
NM_007194.4(CHEK2):c.1260-8A>G SNV
Germline		 Chr22:28695250 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA336126 rs_863224747

9 SubmittersRCV000196032RCV000481621RCV000582062RCV003483572
NM_001018115.3(FANCD2):c.2022-5C>T SNV
Germline		 Chr3:10064724 Conflicting classifications of pathogenicity not specified
Fanconi anemia complementation group D2
Condition: not provided
Fanconi anemia complementation group A
Fanconi anemia
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA249053 rs_4019784

13 SubmittersRCV000202851RCV000368728RCV000860369RCV000987102RCV001434411RCV002225505
NM_000051.4(ATM):c.2879C>A (p.Pro960His) SNV
Germline		 Chr11:108271104 Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA350856 rs_587779828

7 SubmittersRCV000206872RCV000217962RCV001030526RCV001174579
NM_000059.4(BRCA2):c.632-3C>G SNV
Germline		 Chr13:32329440 Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition		 Reviewed By Expert Panel
 CA348611 rs_568027879

10 SubmittersRCV000204368RCV000220060RCV000238832RCV000481337RCV000766853RCV003474980RCV004567458
NM_000059.4(BRCA2):c.682-15C>T SNV
Germline		 Chr13:32330904 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA348321 rs_864622084

4 SubmittersRCV000204052RCV000432735RCV000772724
NM_000059.4(BRCA2):c.1291A>C (p.Thr431Pro) SNV
Germline		 Chr13:32332769 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA349130 rs_864622399

3 SubmittersRCV000204938RCV001010792
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val) SNV
Germline		 Chr13:32332919 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Malignant tumor of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA349336 rs_760559435

10 SubmittersRCV000205133RCV000566955RCV000663047RCV000759574RCV001358420RCV002247629
NM_000059.4(BRCA2):c.1462A>C (p.Ile488Leu) SNV
Germline		 Chr13:32332940 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA350401 rs_864622352

5 SubmittersRCV000206357RCV001358466RCV003157451
NM_000059.4(BRCA2):c.1561T>C (p.Ser521Pro) SNV
Germline		 Chr13:32333039 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA348820 rs_864622689

4 SubmittersRCV000204596RCV001191188
NM_000059.4(BRCA2):c.1780A>T (p.Ile594Leu) SNV
Germline		 Chr13:32333258 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA348739 rs_431825287

6 SubmittersRCV000204513RCV000772141RCV001706189RCV002285279
NM_000059.4(BRCA2):c.1996A>G (p.Ile666Val) SNV
Germline		 Chr13:32336351 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA348838 rs_864622172

4 SubmittersRCV000204625RCV003157448RCV003483573
NM_000059.4(BRCA2):c.2596G>C (p.Glu866Gln) SNV
Germline		 Chr13:32336951 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA348942 rs_864622476

4 SubmittersRCV000204729RCV001015897RCV003477693
NM_000059.4(BRCA2):c.3188A>G (p.Gln1063Arg) SNV
Germline		 Chr13:32337543 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA350658 rs_775030825

9 SubmittersRCV000206648RCV000501582RCV000571902RCV000586508RCV001804171RCV003997601RCV004541289
NM_000059.4(BRCA2):c.3191C>G (p.Ser1064Ter) SNV
Germline		 Chr13:32337546 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Reviewed By Expert Panel
 CA348662 rs_864622609

2 SubmittersRCV000204433RCV000241250
NM_000059.4(BRCA2):c.3329A>C (p.Glu1110Ala) SNV
Germline		 Chr13:32337684 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA348369 rs_587782072

7 SubmittersRCV000204123RCV000570799RCV000587928
NM_000059.4(BRCA2):c.3540G>C (p.Lys1180Asn) SNV
Germline		 Chr13:32337895 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA350624 rs_864622363

8 SubmittersRCV000206612RCV000220199RCV001560226RCV002250596RCV003491953
NM_000059.4(BRCA2):c.4114T>A (p.Phe1372Ile) SNV
Germline		 Chr13:32338469 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA348262 rs_864622169

2 SubmittersRCV000203980RCV003157447
NM_000059.4(BRCA2):c.4120A>G (p.Lys1374Glu) SNV
Germline		 Chr13:32338475 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA349211 rs_864622126

6 SubmittersRCV000205046RCV000482300RCV001021908RCV003479058
NM_000059.4(BRCA2):c.4445A>G (p.Glu1482Gly) SNV
Germline		 Chr13:32338800 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA350844 rs_775234705

3 SubmittersRCV000206849RCV001022493
NM_000059.4(BRCA2):c.4527A>C (p.Gln1509His) SNV
Germline		 Chr13:32338882 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA348344 rs_56283738

7 SubmittersRCV000204087RCV000215274RCV000487203RCV001193890
NM_000059.4(BRCA2):c.4688G>T (p.Trp1563Leu) SNV
Germline		 Chr13:32339043 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA349099 rs_864622546

2 SubmittersRCV000204911RCV003157455
NM_000059.4(BRCA2):c.4814T>C (p.Val1605Ala) SNV
Germline		 Chr13:32339169 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA349454 rs_864622426

2 SubmittersRCV000205282RCV003157453
NM_000059.4(BRCA2):c.4865G>C (p.Arg1622Thr) SNV
Germline		 Chr13:32339220 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA350255 rs_864622427

2 SubmittersRCV000206190RCV003157454
NM_000059.4(BRCA2):c.5016C>G (p.Tyr1672Ter) SNV
Germline		 Chr13:32339371 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA348640 rs_864622073

6 SubmittersRCV000204412RCV000241039RCV000569880
NM_000059.4(BRCA2):c.5030G>T (p.Arg1677Ile) SNV
Germline		 Chr13:32339385 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA348192 rs_375304428

4 SubmittersRCV000203901RCV001800530RCV002336562
NM_000059.4(BRCA2):c.5396C>T (p.Ala1799Val) SNV
Germline		 Chr13:32339751 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA350134 rs_770450108

7 SubmittersRCV000206075RCV000222205RCV000759625RCV003997606
NM_000059.4(BRCA2):c.5733T>G (p.Asp1911Glu) SNV
Germline		 Chr13:32340088 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA348336 rs_367823201

6 SubmittersRCV000204074RCV000573621RCV002247636RCV003997635
NM_000059.4(BRCA2):c.5932T>G (p.Phe1978Val) SNV
Germline		 Chr13:32340287 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA348922 rs_864622526

4 SubmittersRCV000204715RCV001799633RCV002354580
NM_000059.4(BRCA2):c.6011A>G (p.Glu2004Gly) SNV
Germline		 Chr13:32340366 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA350195 rs_864622336

2 SubmittersRCV000206127RCV003157450
NM_000059.4(BRCA2):c.6111A>T (p.Glu2037Asp) SNV
Germline		 Chr13:32340466 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA349480 rs_864622740

3 SubmittersRCV000205321RCV000580083
NM_000059.4(BRCA2):c.6236T>A (p.Val2079Glu) SNV
Germline		 Chr13:32340591 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA350080 rs_864622757

3 SubmittersRCV000206004RCV002363036
NM_000059.4(BRCA2):c.6254T>G (p.Leu2085Ter) SNV
Germline		 Chr13:32340609 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA348847 rs_864622082

3 SubmittersRCV000204636RCV000241368RCV001184328
NM_000059.4(BRCA2):c.6638C>T (p.Ser2213Phe) SNV
Germline		 Chr13:32340993 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA348036 rs_75925841

7 SubmittersRCV000203740RCV000216639RCV000482325RCV000780020RCV002250595
NM_000059.4(BRCA2):c.7618-10T>G SNV
Germline		 Chr13:32357732 Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350161 rs_864622573

3 SubmittersRCV000206097RCV000989067RCV003343703
NM_000059.4(BRCA2):c.7874G>A (p.Arg2625Lys) SNV
Germline		 Chr13:32362591 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA348618 rs_864622552

8 SubmittersRCV000204378RCV000483772RCV000509944RCV000779999RCV001257500RCV003474984
NM_000059.4(BRCA2):c.8754+4A>T SNV
Germline		 Chr13:32376795 Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA348420 rs_81002893

6 SubmittersRCV000204178RCV000410920RCV000572423RCV003474982
NM_000059.4(BRCA2):c.8987T>A (p.Leu2996Ter) SNV
Germline		 Chr13:32379783 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA348592 rs_864622200

6 SubmittersRCV000204346RCV000241094RCV001269609RCV001525608
NM_000059.4(BRCA2):c.9027T>G (p.Tyr3009Ter) SNV
Germline		 Chr13:32379823 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA349539 rs_864622568

3 SubmittersRCV000205381RCV000240965RCV004020533
NM_000059.4(BRCA2):c.9096A>C (p.Lys3032Asn) SNV
Germline		 Chr13:32379892 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA348978 rs_864622582

5 SubmittersRCV000204782RCV000236934RCV001170979RCV002372203RCV004567474
NM_000059.4(BRCA2):c.10171A>G (p.Ile3391Val) SNV
Germline		 Chr13:32398684 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA350207 rs_778147500

4 SubmittersRCV000206136RCV000442780RCV000773224
NM_007294.4(BRCA1):c.5372T>C (p.Val1791Ala) SNV
Germline		 Chr17:43049155 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA350379 rs_864622244

4 SubmittersRCV000206333RCV001076848RCV002258829
NM_007294.4(BRCA1):c.5225A>G (p.Asn1742Ser) SNV
Germline		 Chr17:43057104 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA348708 rs_864622104

6 SubmittersRCV000204481RCV000222081RCV000487539
NM_007294.4(BRCA1):c.5152+5G>C SNV
Germline		 Chr17:43063869 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 CA348506 rs_80358165

3 SubmittersRCV000204262RCV001076461
NM_007294.4(BRCA1):c.3931A>G (p.Asn1311Asp) SNV
Germline		 Chr17:43091600 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA348350 rs_864622233

3 SubmittersRCV000204095RCV003157449
NM_007294.4(BRCA1):c.3929C>G (p.Thr1310Arg) SNV
Germline		 Chr17:43091602 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA349065 rs_80357257

2 SubmittersRCV000204872RCV003157452
NM_007294.4(BRCA1):c.2841A>T (p.Lys947Asn) SNV
Germline		 Chr17:43092690 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA348171 rs_864622618

3 SubmittersRCV000203872RCV000223008
NM_007294.4(BRCA1):c.2791G>T (p.Val931Leu) SNV
Germline		 Chr17:43092740 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA058319 rs_763639161

7 SubmittersRCV000206628RCV000255742RCV000575467RCV000779872RCV001798678
NM_007294.4(BRCA1):c.2747A>T (p.Asn916Ile) SNV
Germline		 Chr17:43092784 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA349629 rs_864622588

6 SubmittersRCV000205469RCV000218038RCV000409651RCV001562678
NM_007294.4(BRCA1):c.2567A>G (p.Tyr856Cys) SNV
Germline		 Chr17:43092964 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA348738 rs_864622122

5 SubmittersRCV000204510RCV001328453RCV001355649RCV003157446
NM_007294.4(BRCA1):c.1135A>G (p.Ile379Val) SNV
Germline		 Chr17:43094396 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA348689 rs_864622723

5 SubmittersRCV000204469RCV000568268RCV000779855RCV003997666
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) SNV
Germline		 Chr17:43104882 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA348195 rs_864622444

6 SubmittersRCV000203904RCV001077807RCV001180532RCV002500651
NM_000051.4(ATM):c.1924G>T (p.Glu642Ter) SNV
Unknown		 Chr11:108253839 Likely pathogenic Hereditary breast ovarian cancer syndrome No Assertion Criteria Provided
 CA16044128 rs_1057519364

1 SubmittersRCV000416923
NM_000051.4(ATM):c.6198+1G>A SNV
Germline		 Chr11:108316114 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Abnormal central motor function
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA6265875 rs_778031266

12 SubmittersRCV000222023RCV000416815RCV000519640RCV000668415RCV001814117RCV003468967
NM_133510.4(RAD51B):c.84G>A (p.Gln28=) SNV
Germline		 Chr14:67823627 Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7240931 rs_764896402

3 SubmittersRCV000416925RCV000708628
NM_000051.4(ATM):c.3747-1G>A SNV
Germline		 Chr11:108284226 Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16044129 rs_730881364

3 SubmittersRCV000416611RCV002345744RCV004020550
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) SNV
Germline		 Chr16:23635504 Pathogenic/Likely pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10575850 rs_375699023

10 SubmittersRCV000255651RCV000416712RCV000409735RCV000568484RCV001358472
NM_000059.4(BRCA2):c.67+1G>C SNV
Germline		 Chr13:32316528 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10575902 rs_81002796

6 SubmittersRCV000217482RCV000239221RCV000240786RCV001818507RCV001853355
NM_000059.4(BRCA2):c.454A>G (p.Thr152Ala) SNV
Germline		 Chr13:32326129 Conflicting classifications of pathogenicity Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10575905 rs_886037806

7 SubmittersRCV000240793RCV000637659RCV000777928RCV003156232RCV003607256RCV003997695
NM_000059.4(BRCA2):c.1211A>G (p.Asn404Ser) SNV
Germline		 Chr13:32332689 Conflicting classifications of pathogenicity Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA10575907 rs_80358414

9 SubmittersRCV000240794RCV000472702RCV000571012RCV000586358RCV000988998RCV004530255
NM_000059.4(BRCA2):c.1462A>G (p.Ile488Val) SNV
Germline		 Chr13:32332940 Conflicting classifications of pathogenicity Breast neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10575908 rs_864622352

6 SubmittersRCV000240763RCV000572755RCV001239569RCV003444220
NM_000059.4(BRCA2):c.1511C>G (p.Ser504Cys) SNV
Germline		 Chr13:32332989 Conflicting classifications of pathogenicity Breast neoplasm
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10575909 rs_886037807

7 SubmittersRCV000240730RCV000486878RCV001193362RCV002390563RCV003644931
NM_000059.4(BRCA2):c.1591A>G (p.Lys531Glu) SNV
Germline		 Chr13:32333069 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast neoplasm
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10575910 rs_876659050

5 SubmittersRCV000221304RCV000240715RCV000815686
NM_000059.4(BRCA2):c.3475T>G (p.Cys1159Gly) SNV
Germline		 Chr13:32337830 Conflicting classifications of pathogenicity Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10575916 rs_886037814

3 SubmittersRCV000240718RCV000537173RCV003157462
NM_000059.4(BRCA2):c.4548C>G (p.Ile1516Met) SNV
Germline		 Chr13:32338903 Conflicting classifications of pathogenicity Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10575920 rs_886037815

3 SubmittersRCV000240770RCV001853357RCV003157463
NM_000059.4(BRCA2):c.5206C>T (p.Gln1736Ter) SNV
Germline/somatic		 Chr13:32339561 Pathogenic Breast neoplasm
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA10575921 rs_886037802

4 SubmittersRCV000240691RCV000546284RCV000661397RCV003332142
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe) SNV
Germline		 Chr13:32339842 Conflicting classifications of pathogenicity Breast neoplasm
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA6940879 rs_779967765

11 SubmittersRCV000240748RCV000456588RCV000482177RCV000574898RCV001356089RCV002250598RCV002509304
NM_000059.4(BRCA2):c.9318G>A (p.Trp3106Ter) SNV
Germline		 Chr13:32394750 Pathogenic Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA10575935 rs_771203198

7 SubmittersRCV000240700RCV000256794RCV000526753RCV001180870RCV003221863
NM_007294.4(BRCA1):c.4159T>C (p.Ser1387Pro) SNV
Germline		 Chr17:43090970 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA10575944 rs_876658221

9 SubmittersRCV000215986RCV000240798RCV000663205RCV001319504RCV003493510RCV003153490
NM_007294.4(BRCA1):c.3071G>C (p.Ser1024Thr) SNV
Germline/somatic		 Chr17:43092460 Conflicting classifications of pathogenicity Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10575947 rs_757579891

3 SubmittersRCV000240705RCV001202270RCV003157456
NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser) SNV
Germline		 Chr17:43093263 Conflicting classifications of pathogenicity Breast neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10575950 rs_80356884

8 SubmittersRCV000240783RCV000777927RCV001043803RCV001753632RCV002250597RCV003997694
NM_007294.4(BRCA1):c.1819A>G (p.Lys607Glu) SNV
Germline		 Chr17:43093712 Conflicting classifications of pathogenicity Breast neoplasm
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA057535 rs_80357220

6 SubmittersRCV000240791RCV000580306RCV003316160RCV003644930
NM_007294.4(BRCA1):c.213-2A>G SNV
Germline		 Chr17:43104958 Pathogenic Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10575954 rs_397508940

5 SubmittersRCV000240728RCV000258171RCV001853354RCV004020571
NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp) SNV
Germline		 Chr17:43106476 Pathogenic/Likely pathogenic Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10575955 rs_587781632

5 SubmittersRCV000240686RCV000258255RCV000687511
NM_000059.4(BRCA2):c.67G>A (p.Asp23Asn) SNV
Germline		 Chr13:32316527 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10576059 rs_397507881

3 SubmittersRCV000211034RCV000548779RCV003343705
NM_000059.4(BRCA2):c.1159G>T (p.Val387Phe) SNV
Germline		 Chr13:32332637 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA10576061 rs_869320791

10 SubmittersRCV000211000RCV000218227RCV000462241RCV001284070RCV003607257RCV004529015
NM_000059.4(BRCA2):c.1355T>C (p.Leu452Pro) SNV
Germline		 Chr13:32332833 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940510 rs_753512842

11 SubmittersRCV000211025RCV000568425RCV000637781RCV000766590
NM_000059.4(BRCA2):c.2695A>G (p.Asn899Asp) SNV
Germline		 Chr13:32337050 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940624 rs_564197624

5 SubmittersRCV000211046RCV000219179RCV000637584RCV001284079
NM_000059.4(BRCA2):c.3437A>T (p.Glu1146Val) SNV
Germline		 Chr13:32337792 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10576065 rs_80358588

6 SubmittersRCV000210959RCV000568644RCV001224564RCV002247644
NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln) SNV
Germline		 Chr13:32339003 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940803 rs_80358695

6 SubmittersRCV000210981RCV000496491RCV001022836RCV001321133
NM_000059.4(BRCA2):c.5777G>A (p.Ser1926Asn) SNV
Germline		 Chr13:32340132 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10576069 rs_869320795

6 SubmittersRCV000211032RCV000570052RCV000589776RCV001230214
NM_000059.4(BRCA2):c.7618-19G>T SNV
Germline		 Chr13:32357723 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10576072 rs_371417084

4 SubmittersRCV000210995RCV000605290RCV001490270
NM_000059.4(BRCA2):c.9256+7C>T SNV
Germline		 Chr13:32380152 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10576078 rs_373697701

3 SubmittersRCV000211035RCV000601290RCV001402364
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu) SNV
Germline		 Chr17:43057127 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10576081 rs_869320780

6 SubmittersRCV000211033RCV000774931RCV001368647
NM_000059.4(BRCA2):c.1832C>G (p.Ser611Ter) SNV
Germline		 Chr13:32333310 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Reviewed By Expert Panel
 CA501226 rs_80358474

5 SubmittersRCV000213224RCV000257225RCV001310173RCV002284378
NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter) SNV
Germline		 Chr13:32337542 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA10576940 rs_876657678

14 SubmittersRCV000218286RCV000257793RCV000486387RCV001804949RCV003474994
NM_002485.5(NBN):c.1398-10T>A SNV
Germline		 Chr8:89953701 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA4802732 rs_539960851

6 SubmittersRCV000214666RCV000463346RCV001355059RCV002225524
NM_000059.4(BRCA2):c.425+2T>C SNV
Germline		 Chr13:32325186 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA10577457 rs_876661045

7 SubmittersRCV000221962RCV000663046RCV000697192RCV001022140RCV003475043
NM_000059.4(BRCA2):c.1106A>C (p.Asn369Thr) SNV
Germline		 Chr13:32332584 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10577461 rs_876660966

6 SubmittersRCV000220013RCV000566186RCV000766602RCV001854726RCV003998612
NM_000059.4(BRCA2):c.1730C>T (p.Ala577Val) SNV
Germline		 Chr13:32333208 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10577462 rs_876661280

4 SubmittersRCV000215464RCV001854761RCV002247668RCV003157471
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser) SNV
Germline		 Chr13:32336760 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA10577465 rs_876661089

8 SubmittersRCV000222981RCV000547681RCV000510101RCV000763883RCV000989012RCV001535798
NM_000059.4(BRCA2):c.3629A>T (p.Asp1210Val) SNV
Germline		 Chr13:32337984 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940711 rs_397507311

4 SubmittersRCV000221295RCV001854745RCV002450647
NM_000059.4(BRCA2):c.3762G>T (p.Glu1254Asp) SNV
Germline		 Chr13:32338117 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA6940723 rs_777028631

9 SubmittersRCV000219074RCV000555263RCV000574577RCV001354936RCV003607270
NM_000059.4(BRCA2):c.3848T>C (p.Val1283Ala) SNV
Germline		 Chr13:32338203 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10577468 rs_80358628

4 SubmittersRCV000215042RCV000509623RCV001854737
NM_000059.4(BRCA2):c.4067T>C (p.Leu1356Ser) SNV
Germline		 Chr13:32338422 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10577469 rs_876660967

7 SubmittersRCV000558819RCV000759612RCV000771388
NM_000059.4(BRCA2):c.4237A>G (p.Lys1413Glu) SNV
Germline		 Chr13:32338592 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA10577470 rs_876661198

8 SubmittersRCV000219793RCV000567611RCV000709310RCV000989026RCV004532817
NM_000059.4(BRCA2):c.4336A>G (p.Ile1446Val) SNV
Germline		 Chr13:32338691 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10577471 rs_876661017

5 SubmittersRCV000222291RCV000573581RCV000800936RCV003998614
NM_000059.4(BRCA2):c.4522G>C (p.Gly1508Arg) SNV
Germline		 Chr13:32338877 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10577472 rs_876661035

5 SubmittersRCV000220979RCV000562611RCV002516192
NM_000059.4(BRCA2):c.4651C>T (p.Gln1551Ter) SNV
Germline		 Chr13:32339006 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA10577473 rs_876661062

7 SubmittersRCV000219028RCV000661550RCV000637577RCV002338695RCV003475044
NM_000059.4(BRCA2):c.4661G>C (p.Ser1554Thr) SNV
Germline		 Chr13:32339016 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10577474 rs_876661225

3 SubmittersRCV000214343RCV000823127RCV003157469
NM_000059.4(BRCA2):c.4771T>A (p.Cys1591Ser) SNV
Germline		 Chr13:32339126 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10577475 rs_781130788

5 SubmittersRCV000215329RCV000697730RCV000772046
NM_000059.4(BRCA2):c.5014T>C (p.Tyr1672His) SNV
Germline		 Chr13:32339369 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940840 rs_781671762

7 SubmittersRCV000222124RCV000560184RCV000586736RCV001188182
NM_000059.4(BRCA2):c.5134G>T (p.Gly1712Ter) SNV
Germline		 Chr13:32339489 Pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Reviewed By Expert Panel
 CA10577476 rs_876661056

6 SubmittersRCV000220651RCV000462700RCV000566954RCV000661386
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile) SNV
Germline		 Chr13:32339580 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940856 rs_756463217

13 SubmittersRCV000216156RCV000325274RCV000382610RCV000509611RCV000780045RCV003607271RCV003483582RCV003493535
NM_000059.4(BRCA2):c.5711T>A (p.Leu1904His) SNV
Germline		 Chr13:32340066 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10577477 rs_876658494

9 SubmittersRCV000214753RCV000220859RCV000232933RCV000663230RCV000657071
NM_000059.4(BRCA2):c.6125A>T (p.Gln2042Leu) SNV
Germline		 Chr13:32340480 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10577478 rs_80358852

4 SubmittersRCV000222030RCV001024916RCV002516201
NM_000059.4(BRCA2):c.6304G>A (p.Val2102Ile) SNV
Germline		 Chr13:32340659 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA6940943 rs_80358869

10 SubmittersRCV000564936RCV000637345RCV001356587RCV000766585RCV003234774RCV003321556
NM_000059.4(BRCA2):c.6559C>T (p.Pro2187Ser) SNV
Germline		 Chr13:32340914 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10577480 rs_868216475

5 SubmittersRCV000213792RCV000773213RCV000822558
NM_000059.4(BRCA2):c.6523G>C (p.Glu2175Gln) SNV
Germline		 Chr13:32340878 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10577481 rs_876658412

9 SubmittersRCV000214552RCV000215499RCV000684915RCV001311840RCV003997807
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val) SNV
Germline		 Chr13:32346877 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA10577486 rs_876661032

10 SubmittersRCV000477387RCV000585970RCV000776229RCV000989057RCV001260262RCV001355885
NM_000059.4(BRCA2):c.7547C>G (p.Ser2516Cys) SNV
Germline		 Chr13:32356539 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10577492 rs_571800995

4 SubmittersRCV000215461RCV000220347RCV000467439
NM_000059.4(BRCA2):c.9381G>A (p.Trp3127Ter) SNV
Germline		 Chr13:32394813 Pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10577497 rs_876661242

8 SubmittersRCV000219823RCV000229281RCV000256847RCV000568965
NM_000059.4(BRCA2):c.9937A>G (p.Lys3313Glu) SNV
Germline		 Chr13:32398450 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10577502 rs_876661063

2 SubmittersRCV000217053RCV001247257
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) SNV
Germline		 Chr17:61685887 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Neoplasm of ovary
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA8690447 rs_200239986

11 SubmittersRCV000214349RCV000215700RCV000227974RCV000662447RCV000709536RCV000989990RCV001030466RCV001194733
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) SNV
Germline		 Chr22:28695145 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA10167674 rs_763395924

10 SubmittersRCV000215992RCV000223343RCV000535584RCV000780185RCV001030621RCV001355832
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) SNV
Germline		 Chr22:28695737 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10167706 rs_371418985

18 SubmittersRCV000220219RCV000465371RCV000448496RCV002265697RCV003491990
NM_007194.4(CHEK2):c.908+1G>T SNV
Germline		 Chr22:28703504 Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10577641 rs_587781699

8 SubmittersRCV000219083RCV001018802RCV002282061RCV003335267
NM_000465.4(BARD1):c.1973G>A (p.Arg658His) SNV
Germline		 Chr2:214730439 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
BARD1-related disorder
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA2090111 rs_377227840

11 SubmittersRCV000223283RCV000228912RCV000430001RCV000589126RCV002225516RCV003407748RCV003491968
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) SNV
Germline		 Chr2:214780658 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast carcinoma
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2090324 rs_377153250

13 SubmittersRCV000217217RCV000560121RCV000657592RCV001554323RCV002225514
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly) SNV
Germline		 Chr2:214781318 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Ovarian cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA2090411 rs_16852741

13 SubmittersRCV000218269RCV000459373RCV000589629RCV001030671RCV001356858RCV003153499RCV002307449
NM_000251.3(MSH2):c.266T>C (p.Val89Ala) SNV
Germline		 Chr2:47408455 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Lynch syndrome		 Criteria Provided
Conflicting Classifications
 CA10577929 rs_876659747

6 SubmittersRCV000215101RCV000227027RCV001030705RCV001532987RCV003997972
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) SNV
Germline		 Chr11:108335939 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast and/or ovarian cancer
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA6266322 rs_779145081

11 SubmittersRCV000223476RCV000347894RCV001030605RCV001526927RCV003491969RCV003441794RCV003469000
NM_000059.4(BRCA2):c.-1A>T SNV
Germline		 Chr13:32316460 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579442 rs_876659884

2 SubmittersRCV000217923RCV001433009
NM_000059.4(BRCA2):c.338G>A (p.Arg113Lys) SNV
Germline		 Chr13:32325097 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579454 rs_876659161

6 SubmittersRCV000215283RCV000478500RCV000637720
NM_000059.4(BRCA2):c.497A>T (p.His166Leu) SNV
Germline		 Chr13:32326263 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA10579461 rs_876658364

7 SubmittersRCV000219636RCV000238704RCV000560532RCV001561823RCV004567510
NM_000059.4(BRCA2):c.721A>T (p.Lys241Ter) SNV
Germline		 Chr13:32330958 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA10579470 rs_876659100

6 SubmittersRCV000219810RCV000240982RCV001853543RCV003493517
NM_000059.4(BRCA2):c.928T>G (p.Leu310Val) SNV
Germline		 Chr13:32332406 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940476 rs_778907270

8 SubmittersRCV000219199RCV000460087RCV000985622RCV003335250
NM_000059.4(BRCA2):c.1115A>G (p.Asn372Ser) SNV
Germline		 Chr13:32332593 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10579483 rs_876658943

4 SubmittersRCV000223387RCV001215587RCV003321549
NM_000059.4(BRCA2):c.1129G>A (p.Glu377Lys) SNV
Germline		 Chr13:32332607 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579484 rs_876658625

3 SubmittersRCV000222499RCV000545937
NM_000059.4(BRCA2):c.1162G>T (p.Val388Leu) SNV
Germline		 Chr13:32332640 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579486 rs_876660239

3 SubmittersRCV000219735RCV001038620
NM_000059.4(BRCA2):c.1235C>T (p.Pro412Leu) SNV
Germline		 Chr13:32332713 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579488 rs_876659628

5 SubmittersRCV000223027RCV001201276RCV001370854
NM_000059.4(BRCA2):c.1255T>C (p.Cys419Arg) SNV
Germline		 Chr13:32332733 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579490 rs_876658829

5 SubmittersRCV000214848RCV000500546RCV001230481
NM_000059.4(BRCA2):c.1274A>G (p.Glu425Gly) SNV
Germline		 Chr13:32332752 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940501 rs_768169574

6 SubmittersRCV000222738RCV000701503RCV001115060RCV001115059
NM_000059.4(BRCA2):c.1292C>T (p.Thr431Ile) SNV
Germline		 Chr13:32332770 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA10579491 rs_876660828

5 SubmittersRCV000218910RCV000539167RCV003483581
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala) SNV
Germline		 Chr13:32332887 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940518 rs_750341436

11 SubmittersRCV000220996RCV000499995RCV000757932RCV000657040RCV001798723RCV003998586
NM_000059.4(BRCA2):c.1457A>G (p.Gln486Arg) SNV
Germline		 Chr13:32332935 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579496 rs_757735681

3 SubmittersRCV000221979RCV001362728
NM_000059.4(BRCA2):c.1592A>C (p.Lys531Thr) SNV
Germline		 Chr13:32333070 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579497 rs_876658771

3 SubmittersRCV000214061RCV001207712
NM_000059.4(BRCA2):c.1651G>A (p.Asp551Asn) SNV
Germline		 Chr13:32333129 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579499 rs_876660500

3 SubmittersRCV000223039RCV002515727
NM_000059.4(BRCA2):c.1658T>C (p.Leu553Ser) SNV
Germline		 Chr13:32333136 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579500 rs_876659627

3 SubmittersRCV000218747RCV000228265
NM_000059.4(BRCA2):c.1756A>T (p.Lys586Ter) SNV
Germline		 Chr13:32333234 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Reviewed By Expert Panel
 CA10579503 rs_397507275

6 SubmittersRCV000219960RCV000505930RCV000637397RCV000661446
NM_000059.4(BRCA2):c.1772T>C (p.Ile591Thr) SNV
Germline		 Chr13:32333250 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579504 rs_876660511

5 SubmittersRCV000220224RCV000637355RCV002478814RCV003998567
NM_000059.4(BRCA2):c.1775A>G (p.Tyr592Cys) SNV
Germline		 Chr13:32333253 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6940540 rs_772156559

4 SubmittersRCV000221972RCV000536637RCV000781055
NM_000059.4(BRCA2):c.1780A>G (p.Ile594Val) SNV
Germline		 Chr13:32333258 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579506 rs_431825287

4 SubmittersRCV000222554RCV000232234
NM_000059.4(BRCA2):c.1858T>C (p.Phe620Leu) SNV
Germline		 Chr13:32333336 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579510 rs_876659195

3 SubmittersRCV000222114RCV003530013
NM_000059.4(BRCA2):c.1871C>G (p.Ala624Gly) SNV
Germline		 Chr13:32333349 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579511 rs_769698255

4 SubmittersRCV000217365RCV002518258
NM_000059.4(BRCA2):c.1895C>G (p.Ala632Gly) SNV
Germline		 Chr13:32333373 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579512 rs_876659192

6 SubmittersRCV000214301RCV000457899RCV001199882RCV003997903
NM_000059.4(BRCA2):c.2089A>G (p.Lys697Glu) SNV
Germline		 Chr13:32336444 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579521 rs_876658320

3 SubmittersRCV000216832RCV001339781
NM_000059.4(BRCA2):c.2091A>C (p.Lys697Asn) SNV
Germline		 Chr13:32336446 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA10579522 rs_876659230

5 SubmittersRCV000215784RCV001853552RCV001797681RCV003607264
NM_000059.4(BRCA2):c.2108C>T (p.Thr703Ile) SNV
Germline		 Chr13:32336463 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579523 rs_876660137

4 SubmittersRCV000222864RCV000802485RCV001292711
NM_000059.4(BRCA2):c.2148G>C (p.Gln716His) SNV
Germline		 Chr13:32336503 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579524 rs_876659550

7 SubmittersRCV000221379RCV000528346RCV001775688RCV002247657RCV003997946
NM_000059.4(BRCA2):c.2197G>A (p.Val733Ile) SNV
Germline		 Chr13:32336552 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10579528 rs_876658303

4 SubmittersRCV000213758RCV000531556RCV003479066
NM_000059.4(BRCA2):c.2210C>G (p.Ala737Gly) SNV
Germline		 Chr13:32336565 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579529 rs_876660923

4 SubmittersRCV000222373RCV001854724
NM_000059.4(BRCA2):c.2231C>A (p.Ser744Ter) SNV
Germline		 Chr13:32336586 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10579530 rs_397507282

3 SubmittersRCV000216087RCV000661473RCV001069278
NM_000059.4(BRCA2):c.2264C>G (p.Ser755Cys) SNV
Germline		 Chr13:32336619 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10579532 rs_876659060

4 SubmittersRCV000218185RCV000460156RCV001283916
NM_000059.4(BRCA2):c.2327A>G (p.Lys776Arg) SNV
Germline		 Chr13:32336682 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10579533 rs_876659502

4 SubmittersRCV000214319RCV002519698RCV003150984
NM_000059.4(BRCA2):c.2343C>A (p.Asn781Lys) SNV
Germline		 Chr13:32336698 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579534 rs_876660253

3 SubmittersRCV000216667RCV000547906
NM_000059.4(BRCA2):c.2492T>C (p.Val831Ala) SNV
Germline		 Chr13:32336847 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940608 rs_779520270

6 SubmittersRCV000221675RCV000695903RCV003483579
NM_000059.4(BRCA2):c.2585A>G (p.Lys862Arg) SNV
Germline		 Chr13:32336940 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10579538 rs_876659257

6 SubmittersRCV000222976RCV000589742RCV001315760RCV001797682
NM_000059.4(BRCA2):c.2591A>T (p.Gln864Leu) SNV
Germline		 Chr13:32336946 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579539 rs_876659547

6 SubmittersRCV000220456RCV000475885RCV000507331RCV003997944
NM_000059.4(BRCA2):c.2629C>A (p.Pro877Thr) SNV
Germline		 Chr13:32336984 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579543 rs_80358524

3 SubmittersRCV000215829RCV003644935
NM_000059.4(BRCA2):c.2641G>T (p.Glu881Ter) SNV
Germline		 Chr13:32336996 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA10579544 rs_876658648

8 SubmittersRCV000213781RCV000256675RCV001217121RCV003475008
NM_000059.4(BRCA2):c.2651C>G (p.Ser884Ter) SNV
Germline		 Chr13:32337006 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10579545 rs_777421358

5 SubmittersRCV000222044RCV000257745RCV002515636
NM_000059.4(BRCA2):c.2659G>A (p.Glu887Lys) SNV
Germline		 Chr13:32337014 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579546 rs_876658391

4 SubmittersRCV000216162RCV000796825
NM_000059.4(BRCA2):c.2719A>G (p.Lys907Glu) SNV
Germline		 Chr13:32337074 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast cancer, susceptibility to
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10579549 rs_876659600

5 SubmittersRCV000216812RCV000809060RCV000656469RCV003328569
NM_000059.4(BRCA2):c.2838T>G (p.Asp946Glu) SNV
Germline		 Chr13:32337193 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Invasive breast carcinoma
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940633 rs_149753706

6 SubmittersRCV000217163RCV000677848RCV001853537RCV003997881
NM_000059.4(BRCA2):c.2848G>A (p.Val950Ile) SNV
Germline		 Chr13:32337203 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA6940635 rs_775903570

10 SubmittersRCV000213594RCV000238624RCV000472527RCV000478603RCV000769689
NM_000059.4(BRCA2):c.2878A>G (p.Lys960Glu) SNV
Germline		 Chr13:32337233 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579554 rs_876659267

9 SubmittersRCV000216556RCV000690730RCV000590528RCV003997914
NM_000059.4(BRCA2):c.2933A>G (p.Asn978Ser) SNV
Germline		 Chr13:32337288 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA6940645 rs_775890004

7 SubmittersRCV000216885RCV000704535RCV003324734RCV004529378
NM_000059.4(BRCA2):c.2936T>C (p.Ile979Thr) SNV
Germline		 Chr13:32337291 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579556 rs_876659200

3 SubmittersRCV000216516RCV000689948
NM_000059.4(BRCA2):c.2956A>T (p.Asn986Tyr) SNV
Germline		 Chr13:32337311 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579557 rs_760142268

3 SubmittersRCV000218720RCV002298541
NM_000059.4(BRCA2):c.2963A>C (p.Asp988Ala) SNV
Germline		 Chr13:32337318 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579558 rs_876659509

5 SubmittersRCV000218795RCV000496396RCV001753666RCV001853573
NM_000059.4(BRCA2):c.2968A>G (p.Met990Val) SNV
Germline		 Chr13:32337323 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579559 rs_876660083

7 SubmittersRCV000222852RCV000456252RCV001800568RCV002282060RCV003998012
NM_000059.4(BRCA2):c.3070A>G (p.Ile1024Val) SNV
Germline		 Chr13:32337425 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579563 rs_876659687

6 SubmittersRCV000217862RCV000590483RCV001853584
NM_000059.4(BRCA2):c.3100A>G (p.Ile1034Val) SNV
Germline		 Chr13:32337455 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6940667 rs_755227053

7 SubmittersRCV000220832RCV000255558RCV001069562RCV002509322
NM_000059.4(BRCA2):c.3101T>C (p.Ile1034Thr) SNV
Germline		 Chr13:32337456 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940668 rs_545974734

11 SubmittersRCV000218639RCV000474468RCV000589055RCV003226255RCV003997872
NM_000059.4(BRCA2):c.3121A>G (p.Ser1041Gly) SNV
Germline		 Chr13:32337476 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579565 rs_876658343

3 SubmittersRCV000218556RCV001853508
NM_000059.4(BRCA2):c.3263C>T (p.Pro1088Leu) SNV
Germline		 Chr13:32337618 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579569 rs_876660365

7 SubmittersRCV000220863RCV000703369RCV001589156RCV002267965RCV003998551
NM_000059.4(BRCA2):c.3286G>T (p.Asp1096Tyr) SNV
Germline		 Chr13:32337641 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579571 rs_876660870

3 SubmittersRCV000222462RCV001342615
NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter) SNV
Germline		 Chr13:32337760 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA10579576 rs_876659258

9 SubmittersRCV000216708RCV000256734RCV000545754RCV003133190
NM_000059.4(BRCA2):c.3406A>G (p.Ile1136Val) SNV
Germline		 Chr13:32337761 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA10579577 rs_876658683

5 SubmittersRCV000218123RCV000460858RCV001545293RCV003317160
NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile) SNV
Germline		 Chr13:32337802 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA10579578 rs_876660471

8 SubmittersRCV000221868RCV000696715RCV001109616RCV001109617RCV002478813RCV003150129
NM_000059.4(BRCA2):c.3455T>A (p.Leu1152Ter) SNV
Germline		 Chr13:32337810 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA10579579 rs_80358593

6 SubmittersRCV000215781RCV000257866RCV000691010RCV003475001
NM_000059.4(BRCA2):c.3628G>A (p.Asp1210Asn) SNV
Germline		 Chr13:32337983 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6940710 rs_774392592

4 SubmittersRCV000220676RCV001214933RCV003321554
NM_000059.4(BRCA2):c.3698C>T (p.Ala1233Val) SNV
Germline		 Chr13:32338053 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940718 rs_745700206

8 SubmittersRCV000214873RCV000473952RCV000486250RCV001175565RCV003997812
NM_000059.4(BRCA2):c.3737A>T (p.Asn1246Ile) SNV
Germline		 Chr13:32338092 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579587 rs_876660679

4 SubmittersRCV000217516RCV001582757RCV001854707
NM_000059.4(BRCA2):c.3748G>A (p.Glu1250Lys) SNV
Germline		 Chr13:32338103 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579588 rs_80358615

3 SubmittersRCV000221215RCV001327561
NM_000059.4(BRCA2):c.3803C>T (p.Ser1268Phe) SNV
Germline		 Chr13:32338158 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579590 rs_876659620

3 SubmittersRCV000213953RCV000823187
NM_000059.4(BRCA2):c.3852T>A (p.Ser1284Arg) SNV
Germline		 Chr13:32338207 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579592 rs_777895333

5 SubmittersRCV000217736RCV001582752RCV002515671
NM_000059.4(BRCA2):c.3900G>A (p.Met1300Ile) SNV
Germline		 Chr13:32338255 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA10579595 rs_876659209

8 SubmittersRCV000219800RCV000471803RCV000985515RCV002291599RCV002307454
NM_000059.4(BRCA2):c.3983G>A (p.Ser1328Asn) SNV
Germline		 Chr13:32338338 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940737 rs_753690365

4 SubmittersRCV000222332RCV001232699
NM_000059.4(BRCA2):c.3983G>C (p.Ser1328Thr) SNV
Germline		 Chr13:32338338 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579597 rs_753690365

4 SubmittersRCV000215901RCV000700826
NM_000059.4(BRCA2):c.4003G>T (p.Glu1335Ter) SNV
Germline		 Chr13:32338358 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA6940739 rs_747070579

9 SubmittersRCV000220552RCV000241203RCV000257988RCV000768628
NM_000059.4(BRCA2):c.4089C>A (p.Asn1363Lys) SNV
Germline		 Chr13:32338444 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10579600 rs_80359787

6 SubmittersRCV000222803RCV001212587RCV003323461RCV002478812
NM_000059.4(BRCA2):c.4118T>C (p.Met1373Thr) SNV
Germline		 Chr13:32338473 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940751 rs_750581150

5 SubmittersRCV000216455RCV000770726RCV001344239
NM_000059.4(BRCA2):c.4289C>T (p.Thr1430Ile) SNV
Germline		 Chr13:32338644 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10579607 rs_876659247

5 SubmittersRCV000213473RCV000818006RCV003477733
NM_000059.4(BRCA2):c.4292C>T (p.Ala1431Val) SNV
Germline		 Chr13:32338647 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579608 rs_876659272

3 SubmittersRCV000217324RCV000526222
NM_000059.4(BRCA2):c.4300A>G (p.Lys1434Glu) SNV
Germline		 Chr13:32338655 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579609 rs_876659616

3 SubmittersRCV000216344RCV000637731
NM_000059.4(BRCA2):c.4321G>C (p.Glu1441Gln) SNV
Germline		 Chr13:32338676 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10579610 rs_876659758

5 SubmittersRCV000223496RCV001238191RCV001800563
NM_000059.4(BRCA2):c.4366G>A (p.Glu1456Lys) SNV
Germline		 Chr13:32338721 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579613 rs_876659847

5 SubmittersRCV000213410RCV000478805RCV000637358RCV000989029
NM_000059.4(BRCA2):c.4427A>G (p.Asp1476Gly) SNV
Germline		 Chr13:32338782 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940780 rs_745425169

4 SubmittersRCV000220363RCV003644945RCV003998574
NM_000059.4(BRCA2):c.4450G>A (p.Asp1484Asn) SNV
Germline		 Chr13:32338805 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579617 rs_876660070

3 SubmittersRCV000214723RCV000810885
NM_000059.4(BRCA2):c.4464C>G (p.His1488Gln) SNV
Germline		 Chr13:32338819 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579619 rs_786203743

3 SubmittersRCV000217795RCV001853559
NM_000059.4(BRCA2):c.4516T>C (p.Phe1506Leu) SNV
Germline		 Chr13:32338871 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579623 rs_876659011

4 SubmittersRCV000214758RCV000797532RCV003997885
NM_000059.4(BRCA2):c.4649A>G (p.Glu1550Gly) SNV
Germline		 Chr13:32339004 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10579627 rs_876660887

5 SubmittersRCV000222967RCV000226204RCV001284571
NM_000059.4(BRCA2):c.4685A>C (p.Gln1562Pro) SNV
Germline		 Chr13:32339040 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA6940805 rs_544688816

6 SubmittersRCV000218490RCV000483116RCV000697106RCV003607260
NM_000059.4(BRCA2):c.4747A>G (p.Ile1583Val) SNV
Germline		 Chr13:32339102 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579629 rs_56072130

7 SubmittersRCV000216123RCV000424635RCV001223526RCV003997911
NM_000059.4(BRCA2):c.4765C>G (p.Pro1589Ala) SNV
Germline		 Chr13:32339120 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579630 rs_876660366

3 SubmittersRCV000213837RCV001063391
NM_000059.4(BRCA2):c.4782G>T (p.Met1594Ile) SNV
Germline		 Chr13:32339137 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579631 rs_876658930

3 SubmittersRCV000222181RCV002054972
NM_000059.4(BRCA2):c.4790C>G (p.Ser1597Cys) SNV
Germline		 Chr13:32339145 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579632 rs_876660146

3 SubmittersRCV000218551RCV001244127
NM_000059.4(BRCA2):c.4796A>G (p.Asn1599Ser) SNV
Germline		 Chr13:32339151 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10579633 rs_149759218

9 SubmittersRCV000222382RCV000230978RCV000238876RCV000501254RCV000590510
NM_000059.4(BRCA2):c.4817C>G (p.Ser1606Cys) SNV
Germline		 Chr13:32339172 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10579634 rs_876659853

4 SubmittersRCV000221205RCV002515674RCV003477746
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala) SNV
Germline		 Chr13:32339180 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA10579635 rs_876659201

9 SubmittersRCV000220835RCV000459523RCV000763889RCV001283927RCV001358220RCV003150125
NM_000059.4(BRCA2):c.4960T>G (p.Cys1654Gly) SNV
Germline		 Chr13:32339315 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579640 rs_876659012

4 SubmittersRCV000218439RCV001059418RCV003997886
NM_000059.4(BRCA2):c.5021G>C (p.Ser1674Thr) SNV
Germline		 Chr13:32339376 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10579642 rs_876660602

4 SubmittersRCV000218484RCV000816027RCV003493533
NM_000059.4(BRCA2):c.5045G>A (p.Ser1682Asn) SNV
Germline		 Chr13:32339400 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA10579644 rs_41293493

6 SubmittersRCV000217172RCV000526805RCV001568510RCV002469078
NM_000059.4(BRCA2):c.5212A>T (p.Thr1738Ser) SNV
Germline		 Chr13:32339567 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579647 rs_876658357

4 SubmittersRCV000216747RCV001057975RCV003997799
NM_000059.4(BRCA2):c.5245T>C (p.Tyr1749His) SNV
Germline		 Chr13:32339600 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579649 rs_876658731

3 SubmittersRCV000218601RCV001853520
NM_000059.4(BRCA2):c.5266G>C (p.Val1756Leu) SNV
Germline		 Chr13:32339621 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10579650 rs_876659138

7 SubmittersRCV000221851RCV001284426RCV001303523RCV003330589
NM_000059.4(BRCA2):c.5267T>A (p.Val1756Glu) SNV
Germline		 Chr13:32339622 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940863 rs_770664957

5 SubmittersRCV000216072RCV000985541RCV001112024RCV001112466RCV001854705
NM_000059.4(BRCA2):c.5449T>G (p.Ser1817Ala) SNV
Germline		 Chr13:32339804 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10579655 rs_876658566

6 SubmittersRCV000216871RCV001059265RCV001284431
NM_000059.4(BRCA2):c.5456C>T (p.Pro1819Leu) SNV
Germline		 Chr13:32339811 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10579656 rs_876659214

4 SubmittersRCV000222449RCV000811063RCV001526938
NM_000059.4(BRCA2):c.5553C>G (p.Ile1851Met) SNV
Germline		 Chr13:32339908 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940885 rs_573514896

6 SubmittersRCV000215045RCV000239014RCV000587837RCV001359833
NM_000059.4(BRCA2):c.5605A>G (p.Ser1869Gly) SNV
Germline		 Chr13:32339960 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579657 rs_876659256

4 SubmittersRCV000218600RCV001351506RCV003493520
NM_000059.4(BRCA2):c.5693A>G (p.Asp1898Gly) SNV
Germline		 Chr13:32340048 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579662 rs_876658786

8 SubmittersRCV000221842RCV000637792RCV001547277RCV002228952RCV003997859
NM_000059.4(BRCA2):c.5694T>G (p.Asp1898Glu) SNV
Germline		 Chr13:32340049 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579663 rs_876658756

3 SubmittersRCV000220876RCV000813129
NM_000059.4(BRCA2):c.5699C>G (p.Ser1900Ter) SNV
Germline		 Chr13:32340054 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA10579664 rs_397507797

4 SubmittersRCV000215854RCV000661849RCV001854723RCV003475041
NM_000059.4(BRCA2):c.5707A>G (p.Ile1903Val) SNV
Germline		 Chr13:32340062 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579665 rs_431825333

5 SubmittersRCV000220000RCV000791836RCV000759628RCV003991026
NM_000059.4(BRCA2):c.5719T>A (p.Ser1907Thr) SNV
Germline		 Chr13:32340074 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579666 rs_753445027

3 SubmittersRCV000220788RCV003644942
NM_000059.4(BRCA2):c.5725G>A (p.Asp1909Asn) SNV
Germline		 Chr13:32340080 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579668 rs_764827027

3 SubmittersRCV000215216RCV001055003
NM_000059.4(BRCA2):c.5888G>A (p.Gly1963Glu) SNV
Germline		 Chr13:32340243 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579670 rs_876659836

3 SubmittersRCV000213567RCV001853593
NM_000059.4(BRCA2):c.6014A>G (p.Asp2005Gly) SNV
Germline		 Chr13:32340369 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579674 rs_876658259

3 SubmittersRCV000214421RCV000691490
NM_000059.4(BRCA2):c.6038A>G (p.Lys2013Arg) SNV
Germline		 Chr13:32340393 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579676 rs_876660593

3 SubmittersRCV000213457RCV002298542
NM_000059.4(BRCA2):c.6092C>G (p.Thr2031Ser) SNV
Germline		 Chr13:32340447 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579678 rs_876658761

3 SubmittersRCV000217731RCV003644937
NM_000059.4(BRCA2):c.6119T>C (p.Ile2040Thr) SNV
Germline		 Chr13:32340474 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10579679 rs_876659473

4 SubmittersRCV000216340RCV000467262RCV000589937
NM_000059.4(BRCA2):c.6170G>T (p.Gly2057Val) SNV
Germline		 Chr13:32340525 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10579682 rs_876660308

4 SubmittersRCV000213853RCV000637797RCV003321552
NM_000059.4(BRCA2):c.6212G>C (p.Ser2071Thr) SNV
Germline		 Chr13:32340567 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940934 rs_80358861

5 SubmittersRCV000220310RCV000532875
NM_000059.4(BRCA2):c.6238T>G (p.Leu2080Val) SNV
Germline		 Chr13:32340593 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579685 rs_876658993

5 SubmittersRCV000220359RCV001562948RCV002282058RCV002518295
NM_000059.4(BRCA2):c.6331A>G (p.Lys2111Glu) SNV
Germline		 Chr13:32340686 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940945 rs_773211804

7 SubmittersRCV000221895RCV000466720RCV000663128RCV004017526
NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu) SNV
Germline		 Chr13:32340702 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579690 rs_55953736

7 SubmittersRCV000219720RCV001311839RCV001535551RCV001071124RCV003997951
NM_000059.4(BRCA2):c.6379A>C (p.Ser2127Arg) SNV
Germline		 Chr13:32340734 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579692 rs_876660938

5 SubmittersRCV000213262RCV001303378RCV003998609
NM_000059.4(BRCA2):c.6450A>C (p.Lys2150Asn) SNV
Germline		 Chr13:32340805 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10579696 rs_876658814

4 SubmittersRCV000215239RCV000555951RCV000780002
NM_000059.4(BRCA2):c.6469C>G (p.Gln2157Glu) SNV
Germline		 Chr13:32340824 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579698 rs_397507859

9 SubmittersRCV000214385RCV000462334RCV000483077RCV000767191RCV003607259RCV003997780
NM_000059.4(BRCA2):c.6521T>C (p.Val2174Ala) SNV
Germline		 Chr13:32340876 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10579699 rs_876659448

4 SubmittersRCV000214298RCV000558925RCV000779957
NM_000059.4(BRCA2):c.6532C>G (p.His2178Asp) SNV
Germline		 Chr13:32340887 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940966 rs_80358885

3 SubmittersRCV000219518RCV001853610
NM_000059.4(BRCA2):c.6568G>T (p.Val2190Leu) SNV
Germline		 Chr13:32340923 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6940968 rs_80358888

4 SubmittersRCV000222390RCV000794072RCV001193750
NM_000059.4(BRCA2):c.6581T>C (p.Ile2194Thr) SNV
Germline		 Chr13:32340936 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579703 rs_876660049

6 SubmittersRCV000215118RCV001340631RCV003493528
NM_000059.4(BRCA2):c.6728C>G (p.Ser2243Cys) SNV
Germline		 Chr13:32341083 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10579707 rs_876659031

5 SubmittersRCV000221235RCV001055505RCV002247650
NM_000059.4(BRCA2):c.6755C>G (p.Ser2252Cys) SNV
Germline		 Chr13:32341110 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579710 rs_876658504

4 SubmittersRCV000217607RCV000687819
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter) SNV
Germline		 Chr13:32355219 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided		 Reviewed By Expert Panel
 CA10579735 rs_397507912

9 SubmittersRCV000220866RCV000257405RCV000637747RCV003462523RCV003488478
NM_000059.4(BRCA2):c.7435+5T>C SNV
Germline		 Chr13:32355293 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA10579737 rs_775973095

5 SubmittersRCV000220618RCV000239195RCV000556162RCV003150121
NM_000059.4(BRCA2):c.7516C>T (p.Gln2506Ter) SNV
Germline		 Chr13:32356508 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10579742 rs_876658631

6 SubmittersRCV000215458RCV000256919RCV000496223
NM_000059.4(BRCA2):c.7547C>T (p.Ser2516Phe) SNV
Germline		 Chr13:32356539 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6941107 rs_571800995

7 SubmittersRCV000217254RCV000506211RCV000662938RCV000697908
NM_000059.4(BRCA2):c.7711G>A (p.Glu2571Lys) SNV
Germline		 Chr13:32357835 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10579750 rs_876659501

4 SubmittersRCV000220452RCV000662909RCV001069086RCV003150983
NM_000059.4(BRCA2):c.7744G>A (p.Ala2582Thr) SNV
Germline		 Chr13:32357868 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579751 rs_876660384

3 SubmittersRCV000219913RCV000463676
NM_000059.4(BRCA2):c.7795G>A (p.Glu2599Lys) SNV
Germline		 Chr13:32357919 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10579756 rs_41293509

3 SubmittersRCV000223559RCV001067846RCV002225522
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val) SNV
Germline		 Chr13:32362543 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10579757 rs_80359009

7 SubmittersRCV000216317RCV000255714RCV000556406RCV004567605
NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn) SNV
Germline		 Chr13:32362597 Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10579758 rs_876658736

3 SubmittersRCV000213139RCV001042596RCV001311841
NM_000059.4(BRCA2):c.7891C>A (p.Leu2631Met) SNV
Germline		 Chr13:32362608 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA10579759 rs_876660528

4 SubmittersRCV000217903RCV002469079RCV001854701RCV004567646
NM_000059.4(BRCA2):c.7933A>G (p.Arg2645Gly) SNV
Germline		 Chr13:32362650 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10579761 rs_876658889

6 SubmittersRCV000222813RCV000552479RCV000759664RCV001193806RCV003997876
NM_000059.4(BRCA2):c.7976+4A>G SNV
Germline		 Chr13:32362697 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579762 rs_876659445

2 SubmittersRCV000215910RCV003644943
NM_000059.4(BRCA2):c.8040C>G (p.Asp2680Glu) SNV
Germline		 Chr13:32363242 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA10579765 rs_876660013

5 SubmittersRCV000218538RCV000535538RCV001753675RCV004567618
NM_000059.4(BRCA2):c.8165C>A (p.Thr2722Lys) SNV
Germline		 Chr13:32363367 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10579769 rs_80359062

2 SubmittersRCV000219871RCV001853527
NM_000059.4(BRCA2):c.8192A>G (p.Gln2731Arg) SNV
Germline		 Chr13:32363394 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6941197 rs_753837544

4 SubmittersRCV000213899RCV000239285RCV000465649
NM_000059.4(BRCA2):c.8215G>C (p.Val2739Leu) SNV
Germline		 Chr13:32363417 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6941198 rs_80359069

3 SubmittersRCV000222709RCV000637629
NM_000059.4(BRCA2):c.8331+2T>G SNV
Germline		 Chr13:32363535 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10579777 rs_398122602

3 SubmittersRCV000217152RCV001215392
NM_000059.4(BRCA2):c.8479C>G (p.Pro2827Ala) SNV
Germline		 Chr13:32370549 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579789 rs_786202484

3 SubmittersRCV000219415RCV000457355
NM_000059.4(BRCA2):c.8488-5T>C SNV
Germline		 Chr13:32370951 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA6941250 rs_533806629

12 SubmittersRCV000213120RCV000504448RCV000590772RCV001087971RCV001770176RCV003150122
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys) SNV
Germline		 Chr13:32370998 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6941257 rs_755783122

8 SubmittersRCV000215245RCV000232530RCV000307069RCV000503308RCV000662587RCV003477718
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys) SNV
Germline		 Chr13:32376723 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast and/or ovarian cancer
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA6941285 rs_373203204

12 SubmittersRCV000223550RCV000257957RCV000499406RCV000768609RCV001795355RCV003234773RCV003475018
NM_000059.4(BRCA2):c.8737G>C (p.Asp2913His) SNV
Germline		 Chr13:32376774 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA6941288 rs_144322424

6 SubmittersRCV000216210RCV000586685RCV000527864RCV004567566RCV001731446
NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr) SNV
Germline		 Chr13:32379360 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA6941300 rs_553440338

7 SubmittersRCV000223494RCV000637645RCV001528588RCV003475038
NM_000059.4(BRCA2):c.8897T>C (p.Val2966Ala) SNV
Germline		 Chr13:32379459 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10579801 rs_876658955

4 SubmittersRCV000216219RCV000637359RCV001357680
NM_000059.4(BRCA2):c.9179T>G (p.Phe3060Cys) SNV
Germline		 Chr13:32380068 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579813 rs_876659750

2 SubmittersRCV000222844RCV001297705
NM_000059.4(BRCA2):c.9217G>T (p.Asp3073Tyr) SNV
Germline		 Chr13:32380106 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579818 rs_876658262

3 SubmittersRCV000220645RCV002518246
NM_000059.4(BRCA2):c.10189T>A (p.Ser3397Thr) SNV
Germline		 Chr13:32398702 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10579861 rs_876660044

3 SubmittersRCV000220269RCV000231576
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) SNV
Germline		 Chr16:23607864 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 5		 Reviewed By Expert Panel
 CA10579920 rs_876659859

8 SubmittersRCV000217139RCV000533846RCV002271470RCV002277578RCV003315422
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn) SNV
Germline		 Chr17:31259108 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Hereditary breast ovarian cancer syndrome
Neurofibromatosis, type 1
not specified
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10580315 rs_876660093

8 SubmittersRCV000222235RCV000764112RCV001030575RCV000632497RCV001731450RCV002478807RCV004558547
NM_001042492.3(NF1):c.4942A>G (p.Thr1648Ala) SNV
Germline		 Chr17:31325926 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8487119 rs_770558820

5 SubmittersRCV000219524RCV002338691RCV000469644RCV001030577RCV001567513
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) SNV
Germline		 Chr17:31326144 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Café-au-lait macules with pulmonary stenosis
not specified
Neurofibromatosis, type 1
Hereditary breast ovarian cancer syndrome
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA8487141 rs_773378630

7 SubmittersRCV000219317RCV000680828RCV001126131RCV000780547RCV000460990RCV001030578RCV001126130RCV001126132RCV002338690
NM_002878.4(RAD51D):c.442C>T (p.Gln148Ter) SNV
Germline		 Chr17:35107026 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8499475 rs_773906955

6 SubmittersRCV000215616RCV000657692RCV001853569RCV002509315
NM_007294.4(BRCA1):c.5534A>G (p.Tyr1845Cys) SNV
Germline		 Chr17:43045736 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580481 rs_876660280

3 SubmittersRCV000217888RCV001078041RCV002298540
NM_007294.4(BRCA1):c.5407-4C>G SNV
Germline		 Chr17:43047707 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10580483 rs_876660347

8 SubmittersRCV000222294RCV000343466RCV000433879RCV001073214RCV001697223
NM_007294.4(BRCA1):c.5221G>A (p.Val1741Ile) SNV
Germline		 Chr17:43057108 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580493 rs_876659122

4 SubmittersRCV000214759RCV001076641RCV001245538
NM_007294.4(BRCA1):c.5200T>A (p.Phe1734Ile) SNV
Germline		 Chr17:43057129 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10580495 rs_80356957

6 SubmittersRCV000221287RCV001077019RCV000538997RCV003477738
NM_007294.4(BRCA1):c.5135G>A (p.Trp1712Ter) SNV
Germline		 Chr17:43063891 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10580498 rs_876658672

7 SubmittersRCV000223034RCV000257427RCV001386034
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) SNV
Germline		 Chr17:43063918 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S		 Criteria Provided
Conflicting Classifications
 CA10580499 rs_876660071

6 SubmittersRCV000218067RCV000796831RCV000989872RCV002470823
NM_007294.4(BRCA1):c.4909C>T (p.Pro1637Ser) SNV
Germline		 Chr17:43071005 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580506 rs_876659989

3 SubmittersRCV000215187RCV001073140RCV001320785
NM_007294.4(BRCA1):c.4856C>T (p.Thr1619Ile) SNV
Germline		 Chr17:43071058 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580507 rs_876659163

4 SubmittersRCV000219146RCV001209529RCV003316216
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His) SNV
Germline		 Chr17:43090944 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580532 rs_80356857

3 SubmittersRCV000215792RCV001853601
NM_007294.4(BRCA1):c.4162C>T (p.Gln1388Ter) SNV
Germline		 Chr17:43090967 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA10580534 rs_876660601

6 SubmittersRCV000215519RCV000661269RCV000805865RCV002478815
NM_007294.4(BRCA1):c.4063A>G (p.Asn1355Asp) SNV
Germline		 Chr17:43091468 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10580536 rs_876660530

5 SubmittersRCV000214543RCV000483643RCV000557477RCV000781029
NM_007294.4(BRCA1):c.4048G>T (p.Gly1350Cys) SNV
Germline		 Chr17:43091483 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA059014 rs_748674194

9 SubmittersRCV000214306RCV000231203RCV000486044RCV001800555RCV003997909
NM_007294.4(BRCA1):c.3985G>A (p.Glu1329Lys) SNV
Germline		 Chr17:43091546 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580538 rs_876659467

5 SubmittersRCV000222324RCV002271469RCV002515648
NM_007294.4(BRCA1):c.3979C>T (p.Gln1327Ter) SNV
Germline		 Chr17:43091552 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10580539 rs_876659720

4 SubmittersRCV000222415RCV000661273RCV001043869
NM_007294.4(BRCA1):c.3969A>T (p.Gln1323His) SNV
Germline		 Chr17:43091562 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580540 rs_876660410

4 SubmittersRCV000218395RCV001294911
NM_007294.4(BRCA1):c.3964A>C (p.Lys1322Gln) SNV
Germline		 Chr17:43091567 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580542 rs_80357343

3 SubmittersRCV000220524RCV003644938
NM_007294.4(BRCA1):c.3904G>A (p.Glu1302Lys) SNV
Germline		 Chr17:43091627 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580544 rs_80357461

3 SubmittersRCV000213550RCV001308606
NM_007294.4(BRCA1):c.3896A>G (p.Gln1299Arg) SNV
Germline		 Chr17:43091635 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10580545 rs_876660866

5 SubmittersRCV000222275RCV000559565RCV001284292
NM_007294.4(BRCA1):c.3862G>C (p.Glu1288Gln) SNV
Germline		 Chr17:43091669 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580547 rs_876659708

3 SubmittersRCV000222247RCV002298538
NM_007294.4(BRCA1):c.3815A>G (p.Asn1272Ser) SNV
Germline		 Chr17:43091716 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA059173 rs_772703445

6 SubmittersRCV000222961RCV000759528RCV000780977RCV001087816
NM_007294.4(BRCA1):c.3798C>A (p.Ser1266Arg) SNV
Germline		 Chr17:43091733 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580550 rs_200648498

5 SubmittersRCV000220403RCV001857765RCV003477722RCV003997852
NM_007294.4(BRCA1):c.3712C>T (p.Pro1238Ser) SNV
Germline		 Chr17:43091819 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580553 rs_876659772

4 SubmittersRCV000216367RCV000443846RCV001220681
NM_007294.4(BRCA1):c.3710T>C (p.Ile1237Thr) SNV
Germline		 Chr17:43091821 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580554 rs_876660883

3 SubmittersRCV000223148RCV000689308
NM_007294.4(BRCA1):c.3659A>T (p.Asp1220Val) SNV
Germline		 Chr17:43091872 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA059305 rs_766572561

6 SubmittersRCV000222315RCV001224925RCV001571199RCV003493525
NM_007294.4(BRCA1):c.3583C>T (p.His1195Tyr) SNV
Germline		 Chr17:43091948 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580557 rs_876659903

3 SubmittersRCV000219923RCV001070488
NM_007294.4(BRCA1):c.3569C>T (p.Pro1190Leu) SNV
Germline		 Chr17:43091962 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA059382 rs_755209182

7 SubmittersRCV000220504RCV000554022RCV000985402RCV003316232
NM_007294.4(BRCA1):c.3505G>T (p.Asp1169Tyr) SNV
Germline		 Chr17:43092026 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580558 rs_876659269

5 SubmittersRCV000220929RCV001853554RCV003997915
NM_007294.4(BRCA1):c.3475A>G (p.Ile1159Val) SNV
Germline		 Chr17:43092056 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580559 rs_876658318

4 SubmittersRCV000214527RCV003530009
NM_007294.4(BRCA1):c.3440C>A (p.Ser1147Tyr) SNV
Germline		 Chr17:43092091 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580562 rs_876660757

4 SubmittersRCV000214844RCV000474008
NM_007294.4(BRCA1):c.3401A>T (p.Glu1134Val) SNV
Germline		 Chr17:43092130 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA057907 rs_762744684

7 SubmittersRCV000220075RCV000474129RCV000484803RCV000663155
NM_007294.4(BRCA1):c.3398T>C (p.Leu1133Ser) SNV
Germline		 Chr17:43092133 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580563 rs_80356971

4 SubmittersRCV000219552RCV002518273
NM_007294.4(BRCA1):c.3345A>C (p.Glu1115Asp) SNV
Germline		 Chr17:43092186 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10580565 rs_876658243

4 SubmittersRCV000222328RCV000695211RCV003477713
NM_007294.4(BRCA1):c.3274G>A (p.Glu1092Lys) SNV
Germline		 Chr17:43092257 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580570 rs_876658360

3 SubmittersRCV000221833RCV001374017
NM_007294.4(BRCA1):c.3227G>T (p.Arg1076Ile) SNV
Germline		 Chr17:43092304 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580574 rs_80357313

3 SubmittersRCV000222863RCV000543033
NM_007294.4(BRCA1):c.3181A>G (p.Ile1061Val) SNV
Germline		 Chr17:43092350 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10580575 rs_876658975

6 SubmittersRCV000220855RCV000554549RCV001582748
NM_007294.4(BRCA1):c.3167C>T (p.Ser1056Phe) SNV
Germline		 Chr17:43092364 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10580578 rs_587781588

6 SubmittersRCV000220358RCV000779900RCV001853536RCV002510823
NM_007294.4(BRCA1):c.3166T>C (p.Ser1056Pro) SNV
Germline		 Chr17:43092365 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580579 rs_876659601

5 SubmittersRCV000220872RCV000483943RCV001853582
NM_007294.4(BRCA1):c.3160G>A (p.Val1054Met) SNV
Germline		 Chr17:43092371 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580580 rs_876658479

5 SubmittersRCV000216681RCV000819699RCV003997820
NM_007294.4(BRCA1):c.2996T>G (p.Leu999Arg) SNV
Germline		 Chr17:43092535 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580584 rs_876659514

3 SubmittersRCV000214217RCV001853574
NM_007294.4(BRCA1):c.2992C>G (p.Leu998Val) SNV
Germline		 Chr17:43092539 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10580585 rs_876659077

4 SubmittersRCV000217975RCV000462913RCV003223627
NM_007294.4(BRCA1):c.2969T>C (p.Val990Ala) SNV
Germline		 Chr17:43092562 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA058187 rs_760588785

4 SubmittersRCV000216079RCV001306990RCV001544574
NM_007294.4(BRCA1):c.2967T>A (p.Phe989Leu) SNV
Germline		 Chr17:43092564 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580587 rs_876659270

10 SubmittersRCV000217575RCV000238878RCV000480997RCV000813770
NM_007294.4(BRCA1):c.2960A>G (p.Lys987Arg) SNV
Germline		 Chr17:43092571 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580588 rs_876659990

6 SubmittersRCV000216565RCV001227006RCV001569188RCV003998002
NM_007294.4(BRCA1):c.2942C>A (p.Pro981Gln) SNV
Germline		 Chr17:43092589 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580590 rs_876659025

3 SubmittersRCV000218628RCV001218201
NM_007294.4(BRCA1):c.2836A>T (p.Ile946Phe) SNV
Germline		 Chr17:43092695 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10580595 rs_876660901

6 SubmittersRCV000221752RCV000796435RCV000779885RCV003128601
NM_007294.4(BRCA1):c.2738A>G (p.Asn913Ser) SNV
Germline		 Chr17:43092793 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580602 rs_199954851

8 SubmittersRCV000217466RCV000478791RCV000758804RCV000794318RCV003997964
NM_007294.4(BRCA1):c.2719G>T (p.Glu907Ter) SNV
Germline		 Chr17:43092812 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10580603 rs_876658593

4 SubmittersRCV000220421RCV000257610RCV002519675
NM_007294.4(BRCA1):c.2663A>C (p.His888Pro) SNV
Germline		 Chr17:43092868 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10580608 rs_876658843

6 SubmittersRCV000213188RCV000764122RCV001051347RCV001589144
NM_007294.4(BRCA1):c.2518A>C (p.Ser840Arg) SNV
Germline		 Chr17:43093013 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580613 rs_377475866

6 SubmittersRCV000216626RCV000526016RCV003441800RCV003997949
NM_007294.4(BRCA1):c.2468G>T (p.Arg823Ile) SNV
Germline		 Chr17:43093063 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580614 rs_876659731

7 SubmittersRCV000217280RCV000590056RCV001853587RCV003997968
NM_007294.4(BRCA1):c.2404G>T (p.Val802Leu) SNV
Germline		 Chr17:43093127 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580616 rs_876660885

5 SubmittersRCV000218931RCV001036169
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu) SNV
Germline		 Chr17:43093138 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10580618 rs_876660005

11 SubmittersRCV000217281RCV000462014RCV000616046RCV001701879
NM_007294.4(BRCA1):c.2381C>T (p.Ala794Val) SNV
Germline		 Chr17:43093150 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580620 rs_7502059

3 SubmittersRCV000215863RCV001049535
NM_007294.4(BRCA1):c.2263G>A (p.Glu755Lys) SNV
Germline		 Chr17:43093268 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580626 rs_41286296

6 SubmittersRCV000216413RCV000483305RCV001057480RCV002229928RCV003997802
NM_007294.4(BRCA1):c.2224A>G (p.Asn742Asp) SNV
Germline		 Chr17:43093307 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580629 rs_876658733

4 SubmittersRCV000219842RCV000690878
NM_007294.4(BRCA1):c.2131A>G (p.Lys711Glu) SNV
Germline		 Chr17:43093400 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA058796 rs_747046197

4 SubmittersRCV000216442RCV001237190RCV003153496
NM_007294.4(BRCA1):c.2128A>G (p.Thr710Ala) SNV
Germline		 Chr17:43093403 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580633 rs_876659959

3 SubmittersRCV000220616RCV000800757
NM_007294.4(BRCA1):c.2102A>G (p.Lys701Arg) SNV
Germline		 Chr17:43093429 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580634 rs_876658307

5 SubmittersRCV000217556RCV000228648RCV000663105
NM_007294.4(BRCA1):c.2101A>T (p.Lys701Ter) SNV
Germline		 Chr17:43093430 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Reviewed By Expert Panel
 CA10580635 rs_876660282

5 SubmittersRCV000218292RCV000531745RCV000660958RCV000758792
NM_007294.4(BRCA1):c.2065A>G (p.Ser689Gly) SNV
Germline		 Chr17:43093466 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580637 rs_876660188

6 SubmittersRCV000219139RCV000400810RCV001193769RCV001370913RCV003998026
NM_007294.4(BRCA1):c.2043T>G (p.Ser681Arg) SNV
Germline		 Chr17:43093488 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10580638 rs_143920945

5 SubmittersRCV000214049RCV000542308RCV000779863
NM_007294.4(BRCA1):c.2021C>G (p.Pro674Arg) SNV
Germline		 Chr17:43093510 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580639 rs_876660543

4 SubmittersRCV000215962RCV000484472RCV000695958
NM_007294.4(BRCA1):c.1978G>A (p.Val660Ile) SNV
Germline		 Chr17:43093553 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Inherited ovarian cancer (without breast cancer)		 Criteria Provided
Conflicting Classifications
 CA10580640 rs_876660889

6 SubmittersRCV000214150RCV001040287RCV003493534RCV004584211
NM_007294.4(BRCA1):c.1931G>T (p.Cys644Phe) SNV
Germline		 Chr17:43093600 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580642 rs_876658606

3 SubmittersRCV000222843RCV001326943
NM_007294.4(BRCA1):c.1928G>T (p.Ser643Ile) SNV
Germline		 Chr17:43093603 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580643 rs_876660335

4 SubmittersRCV000215317RCV000822190RCV003998547
NM_007294.4(BRCA1):c.1891C>A (p.Leu631Ile) SNV
Germline		 Chr17:43093640 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580644 rs_876659175

3 SubmittersRCV000213970RCV002298534
NM_007294.4(BRCA1):c.1886G>T (p.Arg629Ile) SNV
Germline		 Chr17:43093645 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4		 Criteria Provided
Conflicting Classifications
 CA10580645 rs_876660144

5 SubmittersRCV000218573RCV001039828RCV002485428
NM_007294.4(BRCA1):c.1878A>G (p.Val626=) SNV
Germline		 Chr17:43093653 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA057600 rs_8176154

7 SubmittersRCV000222216RCV000438203RCV000533270RCV001125931RCV001722185
NM_007294.4(BRCA1):c.1853G>A (p.Arg618Lys) SNV
Germline		 Chr17:43093678 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580646 rs_876659527

4 SubmittersRCV000217671RCV001061904
NM_007294.4(BRCA1):c.1829G>A (p.Arg610Lys) SNV
Germline		 Chr17:43093702 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580648 rs_876660322

4 SubmittersRCV000215923RCV000806900
NM_007294.4(BRCA1):c.1718C>T (p.Ser573Leu) SNV
Germline		 Chr17:43093813 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10580654 rs_876660434

4 SubmittersRCV000215763RCV000637517RCV002267966
NM_007294.4(BRCA1):c.1717T>C (p.Ser573Pro) SNV
Germline		 Chr17:43093814 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580655 rs_876660448

4 SubmittersRCV000215894RCV000590339RCV002295293
NM_007294.4(BRCA1):c.1714G>C (p.Glu572Gln) SNV
Germline		 Chr17:43093817 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10580656 rs_730881473

4 SubmittersRCV000217032RCV002519715RCV003323460
NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp) SNV
Germline		 Chr17:43093869 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580659 rs_876659028

8 SubmittersRCV000213495RCV000703330RCV001527044RCV001762483RCV002503869RCV003233502
NM_007294.4(BRCA1):c.1654G>A (p.Gly552Ser) SNV
Germline		 Chr17:43093877 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA057428 rs_758598971

4 SubmittersRCV000222076RCV000637646
NM_007294.4(BRCA1):c.1496C>T (p.Thr499Ile) SNV
Germline		 Chr17:43094035 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580663 rs_876658285

3 SubmittersRCV000218862RCV000817719
NM_007294.4(BRCA1):c.1472A>C (p.Gln491Pro) SNV
Germline		 Chr17:43094059 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580664 rs_80357376

3 SubmittersRCV000221725RCV003530008
NM_007294.4(BRCA1):c.1469C>T (p.Pro490Leu) SNV
Germline		 Chr17:43094062 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580665 rs_876658291

3 SubmittersRCV000213319RCV002518249
NM_007294.4(BRCA1):c.1400A>G (p.Lys467Arg) SNV
Germline		 Chr17:43094131 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580667 rs_876659316

3 SubmittersRCV000215080RCV000550455
NM_007294.4(BRCA1):c.1394A>G (p.Tyr465Cys) SNV
Germline		 Chr17:43094137 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580668 rs_876659885

6 SubmittersRCV000219459RCV000779853RCV000801376RCV003997990
NM_007294.4(BRCA1):c.1324T>C (p.Cys442Arg) SNV
Germline		 Chr17:43094207 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580670 rs_876660734

4 SubmittersRCV000218713RCV001854712
NM_007294.4(BRCA1):c.1255G>C (p.Val419Leu) SNV
Germline		 Chr17:43094276 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580672 rs_876658873

8 SubmittersRCV000220648RCV000467786RCV000502439RCV000587670RCV003997873
NM_007294.4(BRCA1):c.1155G>A (p.Trp385Ter) SNV
Germline		 Chr17:43094376 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10580676 rs_876660558

3 SubmittersRCV000215799RCV000241412RCV000807369
NM_007294.4(BRCA1):c.1139A>C (p.Gln380Pro) SNV
Germline		 Chr17:43094392 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580678 rs_876659193

3 SubmittersRCV000218218RCV000707559
NM_007294.4(BRCA1):c.1031C>T (p.Ala344Val) SNV
Germline		 Chr17:43094500 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580683 rs_876658636

3 SubmittersRCV000223230RCV001238345
NM_007294.4(BRCA1):c.1005C>A (p.Ser335Arg) SNV
Germline		 Chr17:43094526 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10580685 rs_876660367

5 SubmittersRCV000221259RCV000475154RCV000589343
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg) SNV
Germline		 Chr17:43094549 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA056948 rs_748156170

9 SubmittersRCV000220053RCV000231864RCV000506531RCV001731443RCV002485416RCV003997808
NM_007294.4(BRCA1):c.914G>A (p.Cys305Tyr) SNV
Germline		 Chr17:43094617 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10580687 rs_751124745

4 SubmittersRCV000214980RCV000555637RCV001192475
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly) SNV
Germline		 Chr17:43094647 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA056863 rs_772684048

11 SubmittersRCV000217932RCV000501807RCV000537146RCV001353575RCV001689754RCV003998037
NM_007294.4(BRCA1):c.716A>T (p.His239Leu) SNV
Germline		 Chr17:43094815 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10580689 rs_80357396

9 SubmittersRCV000215014RCV000226910RCV000410574RCV000485971
NM_007294.4(BRCA1):c.482C>T (p.Thr161Ile) SNV
Germline		 Chr17:43099840 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580693 rs_876660138

2 SubmittersRCV000215915RCV000530001
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter) SNV
Germline		 Chr17:43099880 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10580699 rs_876659614

7 SubmittersRCV000219699RCV000238612RCV000779852RCV001589152
NM_007294.4(BRCA1):c.302-5T>C SNV
Germline		 Chr17:43104266 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580706 rs_778668665

5 SubmittersRCV000218881RCV001193803RCV002057189
NM_007294.4(BRCA1):c.255G>T (p.Glu85Asp) SNV
Germline		 Chr17:43104914 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA055485 rs_756499058

5 SubmittersRCV000220243RCV001077787RCV001853517
NM_007294.4(BRCA1):c.132C>T (p.Cys44=) SNV
Germline		 Chr17:43115728 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580710 rs_876658362

8 SubmittersRCV000217253RCV000258218RCV000985366RCV001254330
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) SNV
Germline		 Chr17:43115738 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580711 rs_80357276

9 SubmittersRCV000221074RCV000238698RCV000484008RCV001292947RCV001194451
NM_007294.4(BRCA1):c.86A>G (p.Glu29Gly) SNV
Germline		 Chr17:43115774 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA059876 rs_773841328

6 SubmittersRCV000218323RCV000687386RCV001076955RCV001812635
NM_007294.4(BRCA1):c.74C>T (p.Pro25Leu) SNV
Germline		 Chr17:43124023 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10580713 rs_876660096

6 SubmittersRCV000223256RCV000227670RCV000236374RCV000735502RCV001072405
NM_007294.4(BRCA1):c.10T>C (p.Ser4Pro) SNV
Germline		 Chr17:43124087 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10580715 rs_876658707

5 SubmittersRCV000216237RCV000706715RCV001072306RCV003221867
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) SNV
Germline		 Chr17:58695189 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8677207 rs_767796996

9 SubmittersRCV000217463RCV000458645RCV000709503RCV001582758RCV002467443
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser) SNV
Germline		 Chr17:58703280 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3		 Criteria Provided
Conflicting Classifications
 CA8677291 rs_201529791

8 SubmittersRCV000220889RCV000475356RCV000709507RCV000759334RCV003153507
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn) SNV
Germline		 Chr17:58709877 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10580749 rs_876659188

6 SubmittersRCV000214496RCV000409976RCV000411579RCV000709511
NM_000059.4(BRCA2):c.682-2A>G SNV
Germline		 Chr13:32330917 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10581585 rs_878853287

5 SubmittersRCV000225520RCV001188662RCV001854790
NM_007294.4(BRCA1):c.4576G>T (p.Glu1526Ter) SNV
Germline		 Chr17:43074430 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10581598 rs_878853294

3 SubmittersRCV000225380RCV002516249
NM_001018115.3(FANCD2):c.1440T>C (p.His480=) SNV
Germline		 Chr3:10049400 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group D2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA2249667 rs_375412395

5 SubmittersRCV000234648RCV001144941RCV001557731RCV002225530
NM_000051.4(ATM):c.3614G>A (p.Arg1205His) SNV
Germline		 Chr11:108282747 Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6265325 rs_769106895

8 SubmittersRCV000227875RCV000486877RCV000569109RCV001030527RCV001818551
NM_000059.4(BRCA2):c.316+13A>G SNV
Germline		 Chr13:32319338 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA6940341 rs_773097109

8 SubmittersRCV000229296RCV000378354RCV000579746RCV000586995RCV000607980RCV001094073RCV001357840
NM_000059.4(BRCA2):c.632-13T>G SNV
Germline		 Chr13:32329430 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940419 rs_775947267

6 SubmittersRCV000588227RCV000663299RCV001186865RCV001083428
NM_000059.4(BRCA2):c.898G>A (p.Val300Ile) SNV
Germline		 Chr13:32332376 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10583070 rs_878853616

6 SubmittersRCV000226110RCV000504390RCV000567574RCV002510825
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg) SNV
Germline		 Chr13:32332499 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940483 rs_55833327

11 SubmittersRCV000226133RCV000443327RCV000510111RCV000732589RCV003491993RCV003998697
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter) SNV
Germline		 Chr13:32332667 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Condition: not provided
Breast carcinoma
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10583071 rs_760815829

8 SubmittersRCV000227783RCV000240964RCV000585716RCV001284072RCV001564014RCV002347854
NM_000059.4(BRCA2):c.1204G>T (p.Gly402Cys) SNV
Germline		 Chr13:32332682 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583072 rs_878853556

2 SubmittersRCV000233622RCV003157472
NM_000059.4(BRCA2):c.1282C>G (p.Leu428Val) SNV
Germline		 Chr13:32332760 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10583073 rs_547590567

5 SubmittersRCV000227331RCV000583967RCV000985463
NM_000059.4(BRCA2):c.1813A>T (p.Ile605Leu) SNV
Germline		 Chr13:32333291 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583075 rs_878853557

3 SubmittersRCV000232350RCV002408946
NM_000059.4(BRCA2):c.2077T>C (p.Cys693Arg) SNV
Germline		 Chr13:32336432 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA10583076 rs_878853558

7 SubmittersRCV000226849RCV000565629RCV000759587RCV001175562
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter) SNV
Germline		 Chr13:32336450 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Breast neoplasm
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA10583077 rs_878853559

13 SubmittersRCV000229702RCV000256526RCV000482408RCV000494713RCV000510002RCV003475054
NM_000059.4(BRCA2):c.2239G>T (p.Glu747Ter) SNV
Germline		 Chr13:32336594 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10583079 rs_878853561

3 SubmittersRCV000229810RCV000661458RCV002429087
NM_000059.4(BRCA2):c.2257T>C (p.Phe753Leu) SNV
Germline		 Chr13:32336612 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583080 rs_878853562

2 SubmittersRCV000232533RCV003157473
NM_000059.4(BRCA2):c.2383T>A (p.Ser795Thr) SNV
Germline		 Chr13:32336738 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583081 rs_878853563

3 SubmittersRCV000233344RCV001775697RCV003157474
NM_000059.4(BRCA2):c.2729A>G (p.His910Arg) SNV
Germline		 Chr13:32337084 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA6940625 rs_760792501

5 SubmittersRCV000228411RCV000509934RCV000989017RCV002282067
NM_000059.4(BRCA2):c.2787A>T (p.Leu929Phe) SNV
Germline		 Chr13:32337142 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583084 rs_878853564

3 SubmittersRCV000233984RCV003157475
NM_000059.4(BRCA2):c.2837A>T (p.Asp946Val) SNV
Germline		 Chr13:32337192 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10583085 rs_55972907

5 SubmittersRCV000226769RCV000507854RCV002433944RCV003998698
NM_000059.4(BRCA2):c.3007C>G (p.His1003Asp) SNV
Germline		 Chr13:32337362 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10583086 rs_878853565

6 SubmittersRCV000229829RCV000509749RCV001731456
NM_000059.4(BRCA2):c.3329A>G (p.Glu1110Gly) SNV
Germline		 Chr13:32337684 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940689 rs_587782072

5 SubmittersRCV000233349RCV000236778RCV001019997
NM_000059.4(BRCA2):c.3484G>A (p.Ala1162Thr) SNV
Germline		 Chr13:32337839 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583090 rs_878853570

4 SubmittersRCV000229011RCV000583068
NM_000059.4(BRCA2):c.3583C>A (p.Leu1195Met) SNV
Germline		 Chr13:32337938 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583091 rs_878853571

2 SubmittersRCV000234717RCV003157476
NM_000059.4(BRCA2):c.3826G>C (p.Glu1276Gln) SNV
Germline		 Chr13:32338181 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583095 rs_878853575

2 SubmittersRCV000231554RCV003157477
NM_000059.4(BRCA2):c.3958G>A (p.Glu1320Lys) SNV
Germline		 Chr13:32338313 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583097 rs_80358644

4 SubmittersRCV000231743RCV000509619
NM_000059.4(BRCA2):c.4076C>T (p.Thr1359Ile) SNV
Germline		 Chr13:32338431 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10583099 rs_878853578

6 SubmittersRCV000230157RCV000759613RCV000772157RCV003998699
NM_000059.4(BRCA2):c.4127G>T (p.Gly1376Val) SNV
Germline		 Chr13:32338482 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940752 rs_780458959

5 SubmittersRCV000233089RCV000773181RCV001788090
NM_000059.4(BRCA2):c.4240A>G (p.Thr1414Ala) SNV
Germline		 Chr13:32338595 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583102 rs_878853581

5 SubmittersRCV000228724RCV000662562RCV001818557RCV003157478
NM_000059.4(BRCA2):c.4261T>C (p.Phe1421Leu) SNV
Germline		 Chr13:32338616 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583103 rs_878853582

3 SubmittersRCV000231637RCV000572245
NM_000059.4(BRCA2):c.4305T>G (p.Asn1435Lys) SNV
Germline		 Chr13:32338660 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583104 rs_878853583

2 SubmittersRCV000228914RCV003157479
NM_000059.4(BRCA2):c.4367A>C (p.Glu1456Ala) SNV
Germline		 Chr13:32338722 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583105 rs_878853584

3 SubmittersRCV000231677RCV001180477
NM_000059.4(BRCA2):c.4670C>T (p.Thr1557Ile) SNV
Germline		 Chr13:32339025 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA10583106 rs_80358698

7 SubmittersRCV000233033RCV000565644RCV000735554RCV001553616
NM_000059.4(BRCA2):c.4707C>A (p.Tyr1569Ter) SNV
Germline		 Chr13:32339062 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Reviewed By Expert Panel
 CA10583107 rs_878853585

3 SubmittersRCV000227511RCV000661533RCV000758897
NM_000059.4(BRCA2):c.4729G>C (p.Glu1577Gln) SNV
Germline		 Chr13:32339084 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583109 rs_878853586

2 SubmittersRCV000233214RCV003157480
NM_000059.4(BRCA2):c.5002G>C (p.Ala1668Pro) SNV
Germline		 Chr13:32339357 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583110 rs_587782182

4 SubmittersRCV000233949RCV000772343
NM_000059.4(BRCA2):c.5103A>C (p.Gln1701His) SNV
Germline		 Chr13:32339458 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583111 rs_878853587

2 SubmittersRCV000234682RCV003157481
NM_000059.4(BRCA2):c.5115A>G (p.Ile1705Met) SNV
Germline		 Chr13:32339470 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10583112 rs_878853588

6 SubmittersRCV000228444RCV000571938RCV003234775
NM_000059.4(BRCA2):c.5312G>T (p.Gly1771Val) SNV
Germline		 Chr13:32339667 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA10583113 rs_80358755

5 SubmittersRCV000228622RCV000580812RCV000735563
NM_000059.4(BRCA2):c.5538A>G (p.Ile1846Met) SNV
Germline		 Chr13:32339893 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583115 rs_878853590

2 SubmittersRCV000225936RCV003157482
NM_000059.4(BRCA2):c.5770A>G (p.Ile1924Val) SNV
Germline		 Chr13:32340125 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940901 rs_779020831

4 SubmittersRCV000230760RCV002354630RCV003477784
NM_000059.4(BRCA2):c.5798A>G (p.Asn1933Ser) SNV
Germline		 Chr13:32340153 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583116 rs_878853591

3 SubmittersRCV000234676RCV001024537
NM_000059.4(BRCA2):c.5924G>C (p.Cys1975Ser) SNV
Germline		 Chr13:32340279 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940912 rs_767378196

4 SubmittersRCV000226437RCV001183818
NM_000059.4(BRCA2):c.6411T>A (p.Asn2137Lys) SNV
Germline		 Chr13:32340766 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583120 rs_878853597

4 SubmittersRCV000233748RCV001194026RCV002365171
NM_000059.4(BRCA2):c.6428C>A (p.Ser2143Ter) SNV
Germline		 Chr13:32340783 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA10583121 rs_149330893

5 SubmittersRCV000241501RCV000230879RCV000573709RCV001528507
NM_000059.4(BRCA2):c.6689T>C (p.Ile2230Thr) SNV
Germline		 Chr13:32341044 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583122 rs_878853598

2 SubmittersRCV000232224RCV003157484
NM_000059.4(BRCA2):c.7007+1G>A SNV
Germline		 Chr13:32346897 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10583124 rs_397507891

3 SubmittersRCV000232637RCV001184077RCV001800585
NM_000059.4(BRCA2):c.7435+18G>A SNV
Germline		 Chr13:32355306 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10583129 rs_878853602

2 SubmittersRCV001433987RCV001797689
NM_000059.4(BRCA2):c.7436-20A>G SNV
Germline		 Chr13:32356408 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10583130 rs_878853604

2 SubmittersRCV000781120RCV001413889
NM_000059.4(BRCA2):c.7630G>C (p.Gly2544Arg) SNV
Germline		 Chr13:32357754 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10583133 rs_587781485

7 SubmittersRCV000225896RCV000580094RCV001199884RCV003235150RCV003998701
NM_000059.4(BRCA2):c.8253T>G (p.Ile2751Met) SNV
Germline		 Chr13:32363455 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10583140 rs_757501907

3 SubmittersRCV000228771RCV000569622RCV003998702
NM_000059.4(BRCA2):c.8487+14T>A SNV
Germline		 Chr13:32370571 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583142 rs_767591414

3 SubmittersRCV000233565RCV000781147RCV000771417
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter) SNV
Germline		 Chr16:23629645 Pathogenic Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 3
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10583361 rs_587778587

7 SubmittersRCV000227927RCV000235331RCV000454198RCV001030314RCV001193462
NM_007294.4(BRCA1):c.5425G>A (p.Val1809Ile) SNV
Germline		 Chr17:43047685 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583546 rs_28897698

4 SubmittersRCV000230445RCV001072911RCV002347900
NM_007294.4(BRCA1):c.5383C>T (p.Leu1795Phe) SNV
Germline		 Chr17:43049144 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583547 rs_878854958

4 SubmittersRCV000227535RCV000662828RCV003278713
NM_007294.4(BRCA1):c.5332+3A>G SNV
Germline		 Chr17:43051060 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA054542 rs_766614917

6 SubmittersRCV000230839RCV000480020RCV000573381RCV000662380
NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg) SNV
Germline		 Chr17:43057087 Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10583548 rs_397507245

4 SubmittersRCV000226938RCV000989869RCV001023794
NM_007294.4(BRCA1):c.4987-2A>C SNV
Germline		 Chr17:43067697 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10583555 rs_397509212

3 SubmittersRCV000226415RCV001023367RCV001072941
NM_007294.4(BRCA1):c.4370C>A (p.Ser1457Ter) SNV
Germline		 Chr17:43076602 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Reviewed By Expert Panel
 CA10583560 rs_80357130

4 SubmittersRCV000225938RCV000509730RCV000661156RCV002266938
NM_007294.4(BRCA1):c.3893C>G (p.Ser1298Ter) SNV
Germline		 Chr17:43091638 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA10583564 rs_80357440

2 SubmittersRCV000228438RCV000661138
NM_007294.4(BRCA1):c.3737C>A (p.Thr1246Asn) SNV
Germline		 Chr17:43091794 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10583565 rs_878854949

8 SubmittersRCV000502901RCV000573048RCV000588711RCV001084868
NM_007294.4(BRCA1):c.3572G>A (p.Ser1191Asn) SNV
Germline		 Chr17:43091959 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583566 rs_878854948

4 SubmittersRCV000233599RCV000772341
NM_007294.4(BRCA1):c.3518G>A (p.Ser1173Asn) SNV
Germline		 Chr17:43092013 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA059409 rs_746949187

4 SubmittersRCV000229683RCV001020500
NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu) SNV
Germline		 Chr17:43092128 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA057887 rs_80357136

5 SubmittersRCV000226768RCV000484753RCV000568567RCV000764119
NM_007294.4(BRCA1):c.3217G>A (p.Gly1073Ser) SNV
Germline		 Chr17:43092314 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583567 rs_878854945

2 SubmittersRCV000234408RCV003157485
NM_007294.4(BRCA1):c.3126C>G (p.Ser1042Arg) SNV
Germline		 Chr17:43092405 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583568 rs_878854943

3 SubmittersRCV000228849RCV002321882
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala) SNV
Germline		 Chr17:43092418 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA10583569 rs_16941

9 SubmittersRCV000233884RCV000500860RCV000562497RCV000735473RCV001353949RCV001726066RCV003607273
NM_007294.4(BRCA1):c.2959A>G (p.Lys987Glu) SNV
Germline		 Chr17:43092572 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10583570 rs_878854941

6 SubmittersRCV000230349RCV000509909RCV000779897RCV003998881
NM_007294.4(BRCA1):c.2258G>A (p.Ser753Asn) SNV
Germline		 Chr17:43093273 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10583572 rs_878854939

5 SubmittersRCV000229310RCV000772153RCV003477832
NM_007294.4(BRCA1):c.2245G>A (p.Asp749Asn) SNV
Germline		 Chr17:43093286 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583573 rs_80357114

3 SubmittersRCV000226603RCV001525772
NM_007294.4(BRCA1):c.1355T>C (p.Val452Ala) SNV
Germline		 Chr17:43094176 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583580 rs_878854932

4 SubmittersRCV000232566RCV001184076
NM_007294.4(BRCA1):c.1155G>T (p.Trp385Cys) SNV
Germline		 Chr17:43094376 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10583581 rs_876660558

7 SubmittersRCV000226202RCV000239246RCV000509631RCV000781000RCV003114399
NM_007294.4(BRCA1):c.1099A>G (p.Thr367Ala) SNV
Germline		 Chr17:43094432 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA10583583 rs_878854929

6 SubmittersRCV000228518RCV001177149RCV003607272
NM_007294.4(BRCA1):c.923G>A (p.Ser308Asn) SNV
Germline		 Chr17:43094608 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583584 rs_561998108

2 SubmittersRCV000228952RCV003157486
NM_007294.4(BRCA1):c.902A>G (p.Lys301Arg) SNV
Germline		 Chr17:43094629 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583585 rs_878854965

6 SubmittersRCV000233964RCV000486097RCV001188181
NM_007294.4(BRCA1):c.577A>G (p.Lys193Glu) SNV
Germline		 Chr17:43097260 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10583589 rs_878854962

4 SubmittersRCV000231811RCV001184073RCV002247679
NM_058216.3(RAD51C):c.258A>T (p.Thr86=) SNV
Germline		 Chr17:58695043 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
RAD51C-related disorder		 Criteria Provided
Conflicting Classifications
 CA8677188 rs_149228565

7 SubmittersRCV000575965RCV000766483RCV001087739RCV003315240RCV004532968
NM_058216.3(RAD51C):c.837+1G>T SNV
Germline		 Chr17:58709991 Pathogenic/Likely pathogenic Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10583607 rs_760235677

6 SubmittersRCV000226369RCV000409098RCV000481912RCV003298308RCV003317171
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) SNV
Germline		 Chr17:61776557 Conflicting classifications of pathogenicity Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10583627 rs_786202760

9 SubmittersRCV000226066RCV000481541RCV000582028RCV000709542RCV000990006RCV003482141
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) SNV
Germline/somatic		 Chr17:7673775 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
not specified
Glioblastoma
Papillary renal cell carcinoma type 1
Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the skin
Prostate adenocarcinoma
Neoplasm of the large intestine
Carcinoma of esophagus
Pancreatic adenocarcinoma
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Malignant neoplasm of body of uterus
Hereditary cancer-predisposing syndrome
Gastric adenocarcinoma
Squamous cell lung carcinoma
Breast neoplasm
Non-Hodgkin lymphoma
Condition: not provided
Neoplasm of brain
Lung adenocarcinoma
Hepatocellular carcinoma
Malignant tumor of breast
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10575441 rs_730882008

14 SubmittersRCV000226273RCV000235474RCV000421276RCV000436164RCV000444806RCV000422340RCV000423658RCV000425549RCV000426667RCV000428909RCV000442318RCV000431918RCV000442471RCV000434324RCV000492420RCV000418376RCV000427734RCV000429554RCV000433180RCV000767028RCV000437335RCV000438489RCV000439593RCV001357626RCV000709768RCV003463657RCV003483584
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser) SNV
Germline		 Chr2:214781110 Conflicting classifications of pathogenicity Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA2090382 rs_138904906

11 SubmittersRCV000236599RCV000529895RCV000573274RCV000780946RCV001357269RCV002225531
NM_000465.4(BARD1):c.159-1G>T SNV
Germline		 Chr2:214797118 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10584184 rs_879254139

13 SubmittersRCV000235953RCV000552182RCV000565922RCV000587901
NM_000059.4(BRCA2):c.3098A>T (p.Asp1033Val) SNV
Germline		 Chr13:32337453 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940666 rs_141702094

5 SubmittersRCV000236981RCV000474695RCV000570313
NM_000059.4(BRCA2):c.3417G>T (p.Lys1139Asn) SNV
Germline		 Chr13:32337772 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10584442 rs_145625991

5 SubmittersRCV000235818RCV000823718RCV002450731
NM_000059.4(BRCA2):c.4835C>T (p.Pro1612Leu) SNV
Germline		 Chr13:32339190 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940820 rs_764834875

5 SubmittersRCV000235387RCV000813798RCV001023129
NM_000059.4(BRCA2):c.4927G>A (p.Val1643Ile) SNV
Germline		 Chr13:32339282 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10584447 rs_879254182

6 SubmittersRCV000235874RCV000572029RCV000701658RCV003998916
NM_000059.4(BRCA2):c.6418G>A (p.Gly2140Ser) SNV
Germline		 Chr13:32340773 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10584449 rs_879254137

3 SubmittersRCV000236609RCV000531040RCV003157491
NM_000059.4(BRCA2):c.7617+1G>C SNV
Germline		 Chr13:32356610 Pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10584451 rs_397507922

6 SubmittersRCV000235926RCV002298554RCV002392733
NM_007294.4(BRCA1):c.5327C>A (p.Pro1776His) SNV
Germline		 Chr17:43051068 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10584546 rs_398122695

8 SubmittersRCV000236047RCV000569030RCV000695187RCV001072702RCV001353630RCV003477845
NM_007294.4(BRCA1):c.5155G>T (p.Val1719Leu) SNV
Germline		 Chr17:43063371 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA054068 rs_749465132

6 SubmittersRCV000236215RCV001041311RCV001023635RCV001076110
NM_007294.4(BRCA1):c.4485-1G>T SNV
Germline		 Chr17:43074522 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10584553 rs_80358189

7 SubmittersRCV000236333RCV000258158RCV000506333RCV002327167
NM_007294.4(BRCA1):c.4484G>C (p.Arg1495Thr) SNV
Germline		 Chr17:43076488 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10584554 rs_80357389

5 SubmittersRCV000236135RCV000258262RCV000580649RCV001231407
NM_007294.4(BRCA1):c.4055A>T (p.Glu1352Val) SNV
Germline		 Chr17:43091476 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10584558 rs_879254228

8 SubmittersRCV000235734RCV000637763RCV003987475RCV003157493RCV003998925
NM_007294.4(BRCA1):c.3893C>T (p.Ser1298Leu) SNV
Germline		 Chr17:43091638 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA059120 rs_80357440

5 SubmittersRCV000235595RCV001294914RCV003157488RCV003998910
NM_007294.4(BRCA1):c.3752G>A (p.Cys1251Tyr) SNV
Germline		 Chr17:43091779 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10584559 rs_879254079

4 SubmittersRCV000236428RCV002519825RCV003157490
NM_007294.4(BRCA1):c.3675C>A (p.Cys1225Ter) SNV
Germline		 Chr17:43091856 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10584560 rs_879254023

7 SubmittersRCV000236531RCV000239174RCV000580011RCV001383771
NM_007294.4(BRCA1):c.3250C>A (p.Leu1084Ile) SNV
Germline		 Chr17:43092281 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10584561 rs_879254009

5 SubmittersRCV000236406RCV000531493RCV001180869
NM_007294.4(BRCA1):c.3206A>C (p.Gln1069Pro) SNV
Germline		 Chr17:43092325 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10584562 rs_879254151

4 SubmittersRCV000236650RCV000464400RCV003157492
NM_007294.4(BRCA1):c.2897T>C (p.Ile966Thr) SNV
Germline		 Chr17:43092634 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10584563 rs_879254045

6 SubmittersRCV000566390RCV000759511RCV000779905RCV000792554
NM_007294.4(BRCA1):c.2890G>A (p.Gly964Arg) SNV
Germline		 Chr17:43092641 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10584564 rs_879254027

4 SubmittersRCV000235230RCV001854861RCV002436057
NM_007294.4(BRCA1):c.2882A>G (p.Asn961Ser) SNV
Germline		 Chr17:43092649 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10584565 rs_879254130

7 SubmittersRCV000235761RCV000575733RCV000701306RCV001357957RCV001257493
NM_007294.4(BRCA1):c.2644T>A (p.Cys882Ser) SNV
Germline		 Chr17:43092887 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA058394 rs_184374817

7 SubmittersRCV000236090RCV000779895RCV001016199RCV001373592RCV003998909
NM_007294.4(BRCA1):c.1709C>A (p.Pro570Gln) SNV
Germline		 Chr17:43093822 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA10584570 rs_879254020

7 SubmittersRCV000524967RCV000771381RCV000759496RCV001797692
NM_007294.4(BRCA1):c.1574T>C (p.Val525Ala) SNV
Germline		 Chr17:43093957 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10584571 rs_879253902

5 SubmittersRCV000236949RCV001193189RCV001362691RCV002401917
NM_007294.4(BRCA1):c.1374C>A (p.Asp458Glu) SNV
Germline		 Chr17:43094157 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10584573 rs_879253999

3 SubmittersRCV000235286RCV003157487RCV003644946
NM_007294.4(BRCA1):c.1228G>A (p.Ala410Thr) SNV
Germline		 Chr17:43094303 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA057104 rs_779974365

6 SubmittersRCV000236916RCV000567869RCV000766408RCV000810492
NM_007294.4(BRCA1):c.548-15G>A SNV
Germline		 Chr17:43097304 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA056405 rs_755221482

4 SubmittersRCV000236859RCV000580004RCV000656994RCV001415373
NM_007294.4(BRCA1):c.301+1G>T SNV
Germline		 Chr17:43104867 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA055557 rs_587782173

5 SubmittersRCV000236488RCV000509943RCV000802430RCV001077814
NM_007294.4(BRCA1):c.135-1G>A SNV
Germline		 Chr17:43106534 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10584576 rs_80358158

5 SubmittersRCV000235787RCV000581081RCV000705986RCV001075911
NM_007294.4(BRCA1):c.32T>G (p.Val11Gly) SNV
Germline		 Chr17:43124065 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10584577 rs_80357017

4 SubmittersRCV000236530RCV000509835RCV001072350RCV000792051
NM_007294.4(BRCA1):c.22G>A (p.Val8Ile) SNV
Germline		 Chr17:43124075 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA055451 rs_528902306

6 SubmittersRCV000573882RCV000589934RCV000816431RCV001072330
NM_000059.4(BRCA2):c.-41G>A SNV
Germline		 Chr13:32315666 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA10585889 rs_879255312

5 SubmittersRCV000238620RCV000444557RCV000709283RCV004535204
NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter) SNV
Germline		 Chr13:32332367 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10585891 rs_879255298

4 SubmittersRCV000239093RCV001260440RCV002374406
NM_000059.4(BRCA2):c.1002T>G (p.His334Gln) SNV
Germline		 Chr13:32332480 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6940482 rs_544942885

8 SubmittersRCV000239056RCV000463547RCV000509997RCV002229695
NM_000059.4(BRCA2):c.1574C>G (p.Thr525Ser) SNV
Germline		 Chr13:32333052 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940526 rs_397507271

6 SubmittersRCV000509790RCV000759576RCV001056849
NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter) SNV
Germline		 Chr13:32338238 Pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 2
Breast cancer, susceptibility to
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10585895 rs_879255309

7 SubmittersRCV000239260RCV000496728RCV000504604RCV000661418RCV000656471RCV001021351
NM_000059.4(BRCA2):c.4425G>A (p.Met1475Ile) SNV
Germline		 Chr13:32338780 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10585896 rs_879255301

3 SubmittersRCV000238644RCV001208749RCV003157495
NM_000059.4(BRCA2):c.5191C>T (p.His1731Tyr) SNV
Germline		 Chr13:32339546 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940854 rs_80358745

6 SubmittersRCV000239258RCV000566864RCV000637528RCV001192484RCV003477859
NM_000059.4(BRCA2):c.6792G>C (p.Leu2264Phe) SNV
Germline		 Chr13:32341147 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940984 rs_756182263

5 SubmittersRCV000239333RCV001358732RCV001854914RCV002365248
NM_000059.4(BRCA2):c.7822C>G (p.Pro2608Ala) SNV
Germline		 Chr13:32362539 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related disorder
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA10585900 rs_879255308

9 SubmittersRCV000239253RCV000474942RCV000567257RCV000985252RCV003230466RCV004535203RCV004567796
NM_000059.4(BRCA2):c.8702G>T (p.Gly2901Val) SNV
Germline		 Chr13:32376739 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA10585901 rs_80359129

5 SubmittersRCV000238663RCV000637407RCV000759677RCV001018206RCV003475845
NM_000059.4(BRCA2):c.9118-5T>C SNV
Germline		 Chr13:32380002 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10585902 rs_879255299

2 SubmittersRCV000239331RCV002518504
NM_007294.4(BRCA1):c.5075-2A>G SNV
Germline		 Chr17:43063953 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10585907 rs_80358066

4 SubmittersRCV000238796RCV001854913
NM_007294.4(BRCA1):c.4675+2T>G SNV
Germline		 Chr17:43074329 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10585910 rs_879255293

3 SubmittersRCV000239340RCV001389864RCV003327390
NM_007294.4(BRCA1):c.1842G>T (p.Lys614Asn) SNV
Germline		 Chr17:43093689 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA057570 rs_760109939

7 SubmittersRCV000486968RCV000637399RCV000572707RCV001193715
NM_007294.4(BRCA1):c.1075C>T (p.Pro359Ser) SNV
Germline		 Chr17:43094456 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA057022 rs_767666190

7 SubmittersRCV000238881RCV000460505RCV000565590
NM_007294.4(BRCA1):c.812T>G (p.Val271Gly) SNV
Germline		 Chr17:43094719 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA056758 rs_753099787

4 SubmittersRCV000238634RCV000564083RCV003644947
NM_007294.4(BRCA1):c.742A>C (p.Thr248Pro) SNV
Germline		 Chr17:43094789 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA10585918 rs_879255288

8 SubmittersRCV000238739RCV000573207RCV000794112RCV001357655
NM_000059.4(BRCA2):c.1588A>T (p.Lys530Ter) SNV
Germline		 Chr13:32333066 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10585929 rs_879255325

4 SubmittersRCV000239040RCV000661871RCV000584727RCV001380086
NM_007294.4(BRCA1):c.2983A>T (p.Lys995Ter) SNV
Germline		 Chr17:43092548 Pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA10585940 rs_879255315

4 SubmittersRCV000238695RCV000496586RCV000661078
NM_007294.4(BRCA1):c.679G>T (p.Glu227Ter) SNV
Germline		 Chr17:43094852 Pathogenic not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10585944 rs_879255319

5 SubmittersRCV000238591RCV000574782RCV000661105RCV000709490
NM_000059.4(BRCA2):c.1837C>G (p.Leu613Val) SNV
Germline		 Chr13:32333315 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10586052 rs_879255438

5 SubmittersRCV000239012RCV001050117RCV002411108
NM_000059.4(BRCA2):c.2256C>A (p.Asp752Glu) SNV
Germline		 Chr13:32336611 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10586057 rs_766384913

3 SubmittersRCV000238854RCV000796342RCV003157498
NM_000059.4(BRCA2):c.2282A>C (p.Tyr761Ser) SNV
Germline		 Chr13:32336637 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10586058 rs_879255443

5 SubmittersRCV000239075RCV000700897RCV001185107
NM_000059.4(BRCA2):c.2323T>A (p.Ser775Thr) SNV
Germline		 Chr13:32336678 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10586059 rs_879255444

4 SubmittersRCV000238606RCV001035942RCV002450756
NM_000059.4(BRCA2):c.2554A>C (p.Asn852His) SNV
Germline		 Chr13:32336909 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940612 rs_775531301

8 SubmittersRCV000239170RCV000508576RCV000794988RCV000771292
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter) SNV
Germline		 Chr13:32336961 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA10586061 rs_80358523

10 SubmittersRCV000238628RCV000459261RCV000572852RCV001800616RCV003313063RCV003475847
NM_000059.4(BRCA2):c.2795A>T (p.Asp932Val) SNV
Germline		 Chr13:32337150 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10586063 rs_879255447

4 SubmittersRCV000239185RCV001016622RCV000813921
NM_000059.4(BRCA2):c.3197A>G (p.Asn1066Ser) SNV
Germline		 Chr13:32337552 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA6940676 rs_762752733

10 SubmittersRCV000238713RCV000568492RCV000536197RCV000985495RCV000781090RCV002250606
NM_000059.4(BRCA2):c.3330A>C (p.Glu1110Asp) SNV
Germline		 Chr13:32337685 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA6940690 rs_369294255

10 SubmittersRCV000239030RCV000580365RCV000816307RCV000758882RCV001260303
NM_000059.4(BRCA2):c.3344C>G (p.Ser1115Cys) SNV
Germline		 Chr13:32337699 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10586064 rs_879255448

7 SubmittersRCV000239210RCV000637640RCV000572645RCV000781124
NM_000059.4(BRCA2):c.3964A>G (p.Asn1322Asp) SNV
Germline		 Chr13:32338319 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10586065 rs_879255449

6 SubmittersRCV000238737RCV000542739RCV001375530RCV001800617RCV003157499
NM_000059.4(BRCA2):c.4568G>T (p.Gly1523Val) SNV
Germline		 Chr13:32338923 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10586067 rs_879255451

6 SubmittersRCV000239353RCV000478902RCV000690856RCV002338791
NM_000059.4(BRCA2):c.4885A>G (p.Thr1629Ala) SNV
Germline		 Chr13:32339240 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10586071 rs_879255455

5 SubmittersRCV000238790RCV000582227RCV000792720
NM_000059.4(BRCA2):c.6062A>T (p.His2021Leu) SNV
Germline		 Chr13:32340417 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940926 rs_780621780

4 SubmittersRCV000238902RCV002356337RCV002298556
NM_000059.4(BRCA2):c.7883T>C (p.Ile2628Thr) SNV
Germline		 Chr13:32362600 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10586080 rs_879255465

7 SubmittersRCV000238761RCV000637454RCV000758955RCV001026911
NM_000059.4(BRCA2):c.9285C>A (p.Asp3095Glu) SNV
Germline		 Chr13:32394717 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10586089 rs_80359198

5 SubmittersRCV000239130RCV000812850RCV001175898RCV003475848
NM_000059.4(BRCA2):c.966A>C (p.Lys322Asn) SNV
Germline		 Chr13:32332444 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10586090 rs_879255473

4 SubmittersRCV000238647RCV000808300RCV003157500
NM_007294.4(BRCA1):c.142A>G (p.Met48Val) SNV
Germline		 Chr17:43106526 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10586094 rs_879255477

4 SubmittersRCV000238947RCV004017568RCV003493552
NM_007294.4(BRCA1):c.1460T>C (p.Val487Ala) SNV
Germline		 Chr17:43094071 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10586095 rs_748812609

4 SubmittersRCV000239177RCV003157501RCV003644949
NM_007294.4(BRCA1):c.1514A>T (p.Lys505Ile) SNV
Germline		 Chr17:43094017 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10586096 rs_879254266

4 SubmittersRCV000238702RCV000792368RCV002392751
NM_007294.4(BRCA1):c.3048T>G (p.Asn1016Lys) SNV
Germline		 Chr17:43092483 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10586101 rs_879255482

7 SubmittersRCV000239297RCV000456804RCV000771382
NM_007294.4(BRCA1):c.3564G>C (p.Arg1188Ser) SNV
Germline		 Chr17:43091967 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10586104 rs_879255484

5 SubmittersRCV000239332RCV000824174RCV001183808
NM_007294.4(BRCA1):c.3720G>C (p.Gln1240His) SNV
Germline		 Chr17:43091811 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10586105 rs_876658341

4 SubmittersRCV000238841RCV000554999RCV002347944
NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter) SNV
Germline		 Chr17:43104160 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10586106 rs_879255485

5 SubmittersRCV000239031RCV000496796
NM_007294.4(BRCA1):c.4273C>T (p.Pro1425Ser) SNV
Germline		 Chr17:43082488 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA059807 rs_768327850

6 SubmittersRCV000238679RCV000584619RCV001352318RCV003607278
NM_007294.4(BRCA1):c.5107T>G (p.Tyr1703Asp) SNV
Germline		 Chr17:43063919 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10586112 rs_863224763

4 SubmittersRCV000238883RCV001290639RCV003644950
NM_007294.4(BRCA1):c.5390C>T (p.Ser1797Leu) SNV
Germline		 Chr17:43049137 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10586114 rs_879255492

5 SubmittersRCV000238611RCV000615770RCV004020983RCV002518535
NM_007294.4(BRCA1):c.827C>A (p.Thr276Lys) SNV
Germline		 Chr17:43094704 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10586119 rs_80357436

5 SubmittersRCV000239233RCV000637581RCV000758850RCV002429180
NM_007294.4(BRCA1):c.925A>G (p.Lys309Glu) SNV
Germline		 Chr17:43094606 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10586121 rs_879255498

4 SubmittersRCV000239043RCV000563778RCV003644951
NM_000059.4(BRCA2):c.464G>A (p.Arg155Lys) SNV
Germline		 Chr13:32326139 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA10586163 rs_377639990

5 SubmittersRCV000239453RCV000461803RCV001022845RCV003607279
NM_000059.4(BRCA2):c.523C>T (p.Gln175Ter) SNV
Germline		 Chr13:32326505 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA6940396 rs_750385844

3 SubmittersRCV000241116RCV000688623RCV001023783
NM_000059.4(BRCA2):c.584C>G (p.Ser195Ter) SNV
Germline		 Chr13:32326566 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA10586482 rs_886038053

6 SubmittersRCV000241261RCV000460181RCV002269265RCV002356338RCV003475851
NM_000059.4(BRCA2):c.1325C>G (p.Ser442Ter) SNV
Germline		 Chr13:32332803 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10586495 rs_80358421

4 SubmittersRCV000241014RCV000579413RCV001055352
NM_000059.4(BRCA2):c.2548C>T (p.Gln850Ter) SNV
Germline		 Chr13:32336903 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10586502 rs_886038075

6 SubmittersRCV000241213RCV002429181RCV002519873
NM_000059.4(BRCA2):c.2905C>T (p.Gln969Ter) SNV
Germline		 Chr13:32337260 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10586506 rs_886038080

6 SubmittersRCV000240967RCV000550373RCV002436078
NM_000059.4(BRCA2):c.3016G>T (p.Gly1006Ter) SNV
Germline		 Chr13:32337371 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10586509 rs_886038083

2 SubmittersRCV000241529RCV002519874
NM_000059.4(BRCA2):c.3046G>T (p.Glu1016Ter) SNV
Germline		 Chr13:32337401 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA6940656 rs_748508287

6 SubmittersRCV000241181RCV001524512RCV001857850RCV003221885
NM_000059.4(BRCA2):c.4689G>A (p.Trp1563Ter) SNV
Germline		 Chr13:32339044 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA10586527 rs_886038108

6 SubmittersRCV000241224RCV000506415RCV000698636RCV002338794RCV003477863RCV004567800
NM_000059.4(BRCA2):c.4972C>T (p.Gln1658Ter) SNV
Germline		 Chr13:32339327 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10586532 rs_886038114

5 SubmittersRCV000241136RCV000520451RCV001175032RCV004020992
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter) SNV
Germline		 Chr13:32339636 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA10586539 rs_886038122

9 SubmittersRCV000241157RCV000637612RCV000772133RCV001723829
NM_000059.4(BRCA2):c.5779G>T (p.Glu1927Ter) SNV
Germline		 Chr13:32340134 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10586544 rs_886038131

3 SubmittersRCV000241079RCV001386553
NM_000059.4(BRCA2):c.5978T>G (p.Leu1993Ter) SNV
Germline		 Chr13:32340333 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA6940920 rs_768242833

2 SubmittersRCV000241170RCV000496287
NM_000059.4(BRCA2):c.7063G>T (p.Glu2355Ter) SNV
Germline		 Chr13:32354916 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA6941056 rs_200078639

6 SubmittersRCV000241131RCV000526031RCV000657669RCV001025988RCV003475854
NM_000059.4(BRCA2):c.8178T>A (p.Tyr2726Ter) SNV
Germline		 Chr13:32363380 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA10586587 rs_761595544

7 SubmittersRCV000241134RCV000496742RCV001729482
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter) SNV
Germline		 Chr13:32370548 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA6941230 rs_776353983

6 SubmittersRCV000240987RCV001284444RCV001388431RCV003463712
NM_007294.4(BRCA1):c.4088C>G (p.Ser1363Ter) SNV
Germline		 Chr17:43091443 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10586612 rs_398122680

8 SubmittersRCV000241411RCV000483270RCV001048872RCV001021838
NM_007294.4(BRCA1):c.3910G>T (p.Glu1304Ter) SNV
Germline		 Chr17:43091621 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10586615 rs_886038028

3 SubmittersRCV000241201RCV000456540RCV002374409
NM_007294.4(BRCA1):c.3635C>G (p.Ser1212Ter) SNV
Germline		 Chr17:43091896 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10586622 rs_886038021

2 SubmittersRCV000241422RCV000637626
NM_007294.4(BRCA1):c.3001G>T (p.Glu1001Ter) SNV
Germline		 Chr17:43092530 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10586636 rs_886038007

4 SubmittersRCV000241333RCV001854944
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter) SNV
Germline		 Chr17:43092932 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA10586643 rs_886038001

8 SubmittersRCV000240974RCV000585697RCV000637361RCV001016055RCV002518559
NM_007294.4(BRCA1):c.2138C>A (p.Ser713Ter) SNV
Germline		 Chr17:43093393 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA10586649 rs_80357233

5 SubmittersRCV000241146RCV000573407RCV001854943RCV003477862
NM_007294.4(BRCA1):c.1080C>A (p.Cys360Ter) SNV
Germline		 Chr17:43094451 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10586659 rs_886037986

3 SubmittersRCV000241273RCV001857847
NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter) SNV
Germline		 Chr17:43094487 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10586660 rs_886037985

5 SubmittersRCV000241430RCV001236402
NM_007294.4(BRCA1):c.784C>T (p.Gln262Ter) SNV
Germline		 Chr17:43094747 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA10586665 rs_886037979

7 SubmittersRCV000240999RCV001026872RCV001207336RCV001727656
NM_007294.4(BRCA1):c.280C>T (p.Gln94Ter) SNV
Germline		 Chr17:43104889 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10586672 rs_886037972

7 SubmittersRCV000241148RCV000779883RCV001016654
NM_007294.4(BRCA1):c.213-5T>A SNV
Germline		 Chr17:43104961 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10586680 rs_886038196

5 SubmittersRCV000241443RCV001349989RCV002418077
NM_000059.4(BRCA2):c.2363G>A (p.Gly788Asp) SNV
Germline		 Chr13:32336718 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10588561 rs_886039316

4 SubmittersRCV000255355RCV000510030RCV001855001
NM_000059.4(BRCA2):c.2490C>G (p.Asn830Lys) SNV
Germline		 Chr13:32336845 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA10588562 rs_56331088

5 SubmittersRCV000255910RCV001056245RCV003157503RCV003995739
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) SNV
Germline		 Chr16:23629786 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary cancer
Fanconi anemia
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588608 rs_886039480

10 SubmittersRCV000255054RCV000454204RCV000509375RCV000552634RCV003155937
NM_007294.4(BRCA1):c.5296A>G (p.Ile1766Val) SNV
Germline		 Chr17:43051099 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA10588653 rs_886039314

7 SubmittersRCV000255771RCV000771387RCV000813828RCV001073011RCV001804989
NM_007294.4(BRCA1):c.4016A>G (p.Glu1339Gly) SNV
Germline		 Chr17:43091515 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10588655 rs_886039313

4 SubmittersRCV000255274RCV000571218RCV001325880
NM_007294.4(BRCA1):c.3106T>C (p.Phe1036Leu) SNV
Germline		 Chr17:43092425 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA058116 rs_766381694

5 SubmittersRCV000254861RCV000551637RCV003157502RCV003995738
NM_000059.4(BRCA2):c.71T>G (p.Leu24Ter) SNV
Germline		 Chr13:32319080 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589004 rs_397507902

3 SubmittersRCV000257036RCV001056537
NM_000059.4(BRCA2):c.247G>T (p.Glu83Ter) SNV
Germline		 Chr13:32319256 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589016 rs_886040428

5 SubmittersRCV000257861RCV000776210RCV001380088
NM_000059.4(BRCA2):c.473C>A (p.Ser158Ter) SNV
Germline		 Chr13:32326148 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589030 rs_80358701

3 SubmittersRCV000257460RCV001063986
NM_000059.4(BRCA2):c.643G>T (p.Glu215Ter) SNV
Germline		 Chr13:32329454 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589039 rs_774539540

3 SubmittersRCV000257497RCV003644973
NM_000059.4(BRCA2):c.979A>T (p.Lys327Ter) SNV
Germline		 Chr13:32332457 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589065 rs_80359242

3 SubmittersRCV000257461RCV001859525
NM_000059.4(BRCA2):c.1097T>G (p.Leu366Ter) SNV
Germline		 Chr13:32332575 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer		 Reviewed By Expert Panel
 CA10589072 rs_886040345

5 SubmittersRCV000257220RCV001069551RCV003477877RCV003492023
NM_000059.4(BRCA2):c.1184G>A (p.Trp395Ter) SNV
Germline		 Chr13:32332662 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Gastric cancer		 Reviewed By Expert Panel
 CA10589073 rs_886040347

5 SubmittersRCV000257484RCV000496427RCV003165708
NM_000059.4(BRCA2):c.1253C>G (p.Ser418Ter) SNV
Germline		 Chr13:32332731 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589081 rs_397507266

3 SubmittersRCV000256683RCV003644963
NM_000059.4(BRCA2):c.1376T>G (p.Leu459Ter) SNV
Germline		 Chr13:32332854 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Reviewed By Expert Panel
 CA10589090 rs_587781799

5 SubmittersRCV000257539RCV000496394RCV001357455
NM_000059.4(BRCA2):c.1621G>T (p.Glu541Ter) SNV
Germline		 Chr13:32333099 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589107 rs_886040378

3 SubmittersRCV000257630RCV003530038
NM_000059.4(BRCA2):c.2129C>G (p.Ser710Ter) SNV
Germline		 Chr13:32336484 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA10589136 rs_886040405

5 SubmittersRCV000257558RCV001057719RCV002418100RCV003475862
NM_000059.4(BRCA2):c.2137C>T (p.Gln713Ter) SNV
Germline		 Chr13:32336492 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589137 rs_886040407

3 SubmittersRCV000257325RCV001246977
NM_000059.4(BRCA2):c.2269A>T (p.Lys757Ter) SNV
Germline		 Chr13:32336624 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589148 rs_886040419

4 SubmittersRCV000256622RCV000772134RCV001855027
NM_000059.4(BRCA2):c.2593G>T (p.Glu865Ter) SNV
Germline		 Chr13:32336948 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589164 rs_587782014

3 SubmittersRCV000257089RCV000502188
NM_000059.4(BRCA2):c.2847T>A (p.Tyr949Ter) SNV
Germline		 Chr13:32337202 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589175 rs_886040449

6 SubmittersRCV000256804RCV000462744RCV000507041RCV000565071
NM_000059.4(BRCA2):c.2990T>G (p.Leu997Ter) SNV
Germline		 Chr13:32337345 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589184 rs_397507649

6 SubmittersRCV000256883RCV000504597RCV001046045RCV001182321
NM_000059.4(BRCA2):c.3217C>T (p.Gln1073Ter) SNV
Germline		 Chr13:32337572 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589191 rs_886040464

5 SubmittersRCV000256685RCV000561567RCV000779987
NM_000059.4(BRCA2):c.3244A>T (p.Lys1082Ter) SNV
Germline		 Chr13:32337599 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589192 rs_886040465

4 SubmittersRCV000257758RCV000772136RCV001206785
NM_000059.4(BRCA2):c.3523C>T (p.Gln1175Ter) SNV
Germline		 Chr13:32337878 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589208 rs_886040480

11 SubmittersRCV000257840RCV000522278RCV001020520RCV001064484
NM_000059.4(BRCA2):c.3812C>G (p.Ser1271Ter) SNV
Germline		 Chr13:32338167 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA10589223 rs_80358623

5 SubmittersRCV000256517RCV001182320RCV001859520RCV003475868
NM_000059.4(BRCA2):c.3881T>G (p.Leu1294Ter) SNV
Germline		 Chr13:32338236 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589230 rs_80358632

7 SubmittersRCV000257599RCV000496437RCV000772135
NM_000059.4(BRCA2):c.4051A>T (p.Lys1351Ter) SNV
Germline		 Chr13:32338406 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589239 rs_886040510

4 SubmittersRCV000257141RCV001021755RCV003644967
NM_000059.4(BRCA2):c.4211C>G (p.Ser1404Ter) SNV
Germline		 Chr13:32338566 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA10589245 rs_41293489

7 SubmittersRCV000256949RCV000562646RCV000500303RCV003475870
NM_000059.4(BRCA2):c.4366G>T (p.Glu1456Ter) SNV
Germline		 Chr13:32338721 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA10589254 rs_876659847

9 SubmittersRCV000257168RCV000496408RCV000509662RCV000657676RCV003475871
NM_000059.4(BRCA2):c.4397T>A (p.Leu1466Ter) SNV
Germline		 Chr13:32338752 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589256 rs_886040526

3 SubmittersRCV000257822RCV000703187
NM_000059.4(BRCA2):c.4774A>T (p.Lys1592Ter) SNV
Germline		 Chr13:32339129 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589272 rs_886040548

2 SubmittersRCV000257518RCV000496852
NM_000059.4(BRCA2):c.4912A>T (p.Lys1638Ter) SNV
Germline		 Chr13:32339267 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589276 rs_886040553

6 SubmittersRCV000257313RCV000487270RCV000700312RCV002347977
NM_000059.4(BRCA2):c.5263G>T (p.Glu1755Ter) SNV
Germline		 Chr13:32339618 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589304 rs_886040584

4 SubmittersRCV000256902RCV003165711RCV003644970
NM_000059.4(BRCA2):c.5365A>T (p.Lys1789Ter) SNV
Germline		 Chr13:32339720 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589312 rs_587782240

3 SubmittersRCV000256720RCV004017576
NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter) SNV
Germline		 Chr13:32340155 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589329 rs_886040610

5 SubmittersRCV000257465RCV001782761RCV004017577
NM_000059.4(BRCA2):c.5966C>G (p.Ser1989Ter) SNV
Germline		 Chr13:32340321 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589339 rs_886038134

5 SubmittersRCV000257524RCV001024726RCV003155141
NM_000059.4(BRCA2):c.5975C>G (p.Ser1992Ter) SNV
Germline		 Chr13:32340330 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589341 rs_80358830

3 SubmittersRCV000257155RCV003644971
NM_000059.4(BRCA2):c.6155C>G (p.Ser2052Ter) SNV
Germline		 Chr13:32340510 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589358 rs_786202461

5 SubmittersRCV000257714RCV000985559RCV001024954RCV002307475
NM_000059.4(BRCA2):c.6244G>T (p.Glu2082Ter) SNV
Germline		 Chr13:32340599 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589361 rs_886040642

6 SubmittersRCV000257746RCV000485979RCV000566202RCV000804427
NM_000059.4(BRCA2):c.6385G>T (p.Glu2129Ter) SNV
Germline/somatic		 Chr13:32340740 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589373 rs_886040653

5 SubmittersRCV000256697RCV000785568RCV002365279RCV003644972
NM_000059.4(BRCA2):c.6428C>G (p.Ser2143Ter) SNV
Germline		 Chr13:32340783 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589377 rs_149330893

3 SubmittersRCV000257829RCV001855033
NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter) SNV
Germline		 Chr13:32340833 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast carcinoma		 Reviewed By Expert Panel
 CA10589379 rs_886040658

5 SubmittersRCV000257379RCV000568004RCV000637510RCV001554247
NM_000059.4(BRCA2):c.6502G>T (p.Gly2168Ter) SNV
Germline		 Chr13:32340857 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589382 rs_886040660

5 SubmittersRCV000257061RCV000507169RCV000798225RCV002356362
NM_000059.4(BRCA2):c.6730A>T (p.Lys2244Ter) SNV
Germline		 Chr13:32341085 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589401 rs_886040675

5 SubmittersRCV000256833RCV001383216RCV000776329
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter) SNV
Germline		 Chr13:32354886 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589410 rs_886040685

6 SubmittersRCV000256724RCV000566727RCV002519017
NM_000059.4(BRCA2):c.7124T>G (p.Leu2375Ter) SNV
Germline		 Chr13:32354977 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589413 rs_886040687

6 SubmittersRCV000257811RCV001855035
NM_000059.4(BRCA2):c.7495C>T (p.Gln2499Ter) SNV
Germline		 Chr13:32356487 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589431 rs_876660447

4 SubmittersRCV000256887RCV002392785RCV003530041
NM_000059.4(BRCA2):c.7501C>T (p.Gln2501Ter) SNV
Germline		 Chr13:32356493 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589432 rs_886040711

4 SubmittersRCV000257413RCV000637381RCV000561200
NM_000059.4(BRCA2):c.7615C>T (p.Gln2539Ter) SNV
Germline		 Chr13:32356607 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589440 rs_886040720

4 SubmittersRCV000257556RCV000483081RCV000707435
NM_000059.4(BRCA2):c.7708A>T (p.Lys2570Ter) SNV
Germline		 Chr13:32357832 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589447 rs_876659346

4 SubmittersRCV000257007RCV001264456
NM_000059.4(BRCA2):c.7795G>T (p.Glu2599Ter) SNV
Germline		 Chr13:32357919 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589451 rs_41293509

4 SubmittersRCV000256741RCV000529465RCV002411139
NM_000059.4(BRCA2):c.7974C>A (p.Tyr2658Ter) SNV
Germline		 Chr13:32362691 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided		 Reviewed By Expert Panel
 CA10589460 rs_80359025

5 SubmittersRCV000256889RCV000698665RCV002288952RCV002510834
NM_000059.4(BRCA2):c.8329A>T (p.Lys2777Ter) SNV
Germline		 Chr13:32363531 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589484 rs_886037818

4 SubmittersRCV000256643RCV001050009RCV002429206
NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter) SNV
Germline		 Chr13:32370540 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589499 rs_886040778

5 SubmittersRCV000256588RCV000496945RCV002446506
NM_000059.4(BRCA2):c.8504C>G (p.Ser2835Ter) SNV
Germline		 Chr13:32370972 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589501 rs_80359102

3 SubmittersRCV000256554RCV003644975
NM_000059.4(BRCA2):c.8536G>T (p.Glu2846Ter) SNV
Germline		 Chr13:32371004 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589506 rs_886040781

3 SubmittersRCV000257559RCV002518783
NM_000059.4(BRCA2):c.8777T>A (p.Leu2926Ter) SNV
Germline		 Chr13:32379339 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589516 rs_886040791

7 SubmittersRCV000257704RCV000555765RCV000657696RCV001524866
NM_000059.4(BRCA2):c.8888C>G (p.Ser2963Ter) SNV
Germline		 Chr13:32379450 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589522 rs_886040798

4 SubmittersRCV000257755RCV001812765RCV001855036
NM_000059.4(BRCA2):c.8915T>A (p.Leu2972Ter) SNV
Germline		 Chr13:32379477 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589524 rs_80359142

5 SubmittersRCV000256493RCV000429396RCV002518784
NM_000059.4(BRCA2):c.8931T>A (p.Tyr2977Ter) SNV
Germline		 Chr13:32379493 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589526 rs_886040801

8 SubmittersRCV000257156RCV000657664RCV002446507RCV003644976
NM_000059.4(BRCA2):c.8941G>T (p.Glu2981Ter) SNV
Germline		 Chr13:32379503 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589528 rs_139052578

5 SubmittersRCV000257646RCV000496957RCV002374441
NM_000059.4(BRCA2):c.8951C>A (p.Ser2984Ter) SNV
Germline		 Chr13:32379513 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589532 rs_80359146

6 SubmittersRCV000257587RCV000472639RCV001018541
NM_000059.4(BRCA2):c.9106C>T (p.Gln3036Ter) SNV
Germline		 Chr13:32379902 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589547 rs_202155613

6 SubmittersRCV000257850RCV000481378RCV000637689
NM_000059.4(BRCA2):c.9413T>G (p.Leu3138Ter) SNV
Germline		 Chr13:32394845 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589565 rs_886040838

3 SubmittersRCV000256636RCV001855038
NM_000059.4(BRCA2):c.9836T>A (p.Leu3279Ter) SNV
Germline		 Chr13:32398349 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589575 rs_886040852

3 SubmittersRCV000257096RCV001310191RCV001859526
NM_007294.4(BRCA1):c.5542C>T (p.Gln1848Ter) SNV
Germline		 Chr17:43045728 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589583 rs_886040303

5 SubmittersRCV000256761RCV001024252RCV001386033
NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter) SNV
Germline		 Chr17:43063365 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Gastric cancer		 Reviewed By Expert Panel
 CA10589614 rs_878854957

9 SubmittersRCV000256774RCV000571650RCV000781017RCV001355001RCV003165707
NM_007294.4(BRCA1):c.4573C>T (p.Gln1525Ter) SNV
Germline		 Chr17:43074433 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589655 rs_886040237

3 SubmittersRCV000256768RCV000555704
NM_007294.4(BRCA1):c.4566C>A (p.Tyr1522Ter) SNV
Germline		 Chr17:43074440 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589659 rs_886040234

3 SubmittersRCV000257421RCV000812636
NM_007294.4(BRCA1):c.4527C>A (p.Tyr1509Ter) SNV
Germline		 Chr17:43074479 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589660 rs_886040233

4 SubmittersRCV000257041RCV000657666RCV001383770
NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter) SNV
Germline		 Chr17:43074503 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Ovarian carcinoma		 Reviewed By Expert Panel
 CA10589661 rs_747539984

6 SubmittersRCV000256519RCV000472996RCV001640594
NM_007294.4(BRCA1):c.4408G>T (p.Glu1470Ter) SNV
Germline		 Chr17:43076564 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA10589664 rs_886040230

5 SubmittersRCV000257865RCV001022437RCV001859514RCV003477875
NM_007294.4(BRCA1):c.4270C>T (p.Gln1424Ter) SNV
Germline		 Chr17:43082491 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589674 rs_886040220

4 SubmittersRCV000256958RCV001180871RCV001859513
NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter) SNV
Germline		 Chr17:43082536 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA10589677 rs_886040218

7 SubmittersRCV000256907RCV000536293RCV000570823RCV000759536
NM_007294.4(BRCA1):c.4069G>T (p.Glu1357Ter) SNV
Germline		 Chr17:43091462 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589695 rs_886040195

6 SubmittersRCV000257624RCV002321942RCV002521867
NM_007294.4(BRCA1):c.4066C>T (p.Gln1356Ter) SNV
Germline		 Chr17:43091465 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589696 rs_886040193

4 SubmittersRCV000256549RCV001050058RCV002321941
NM_007294.4(BRCA1):c.4042G>T (p.Gly1348Ter) SNV
Germline		 Chr17:43091489 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589699 rs_886040191

4 SubmittersRCV000257531RCV003584586RCV003530034
NM_007294.4(BRCA1):c.3679C>T (p.Gln1227Ter) SNV
Germline		 Chr17:43091852 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589729 rs_886040159

6 SubmittersRCV000256508RCV001020862RCV001800638RCV001855023
NM_007294.4(BRCA1):c.3412G>T (p.Gly1138Ter) SNV
Germline		 Chr17:43092119 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589755 rs_886040126

6 SubmittersRCV000256530RCV000324250RCV001212296RCV001177930
NM_007294.4(BRCA1):c.3266T>A (p.Leu1089Ter) SNV
Germline		 Chr17:43092265 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589771 rs_886040110

3 SubmittersRCV000256620RCV002521866
NM_007294.4(BRCA1):c.2959A>T (p.Lys987Ter) SNV
Germline		 Chr17:43092572 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589794 rs_878854941

4 SubmittersRCV000256551RCV000481554RCV000780985
NM_007294.4(BRCA1):c.2890G>T (p.Gly964Ter) SNV
Germline		 Chr17:43092641 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589800 rs_879254027

3 SubmittersRCV000257882RCV001855022
NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter) SNV
Germline		 Chr17:43092980 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Gastric cancer		 Reviewed By Expert Panel
 CA10589836 rs_398122662

8 SubmittersRCV000256930RCV000539368RCV000758796RCV000772054RCV003165704
NM_007294.4(BRCA1):c.2524G>T (p.Glu842Ter) SNV
Germline		 Chr17:43093007 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589842 rs_876658552

4 SubmittersRCV000256754RCV000496436RCV001015819
NM_007294.4(BRCA1):c.2331T>G (p.Tyr777Ter) SNV
Germline		 Chr17:43093200 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589862 rs_80357444

6 SubmittersRCV000257516RCV000484996RCV001524116RCV001855021
NM_007294.4(BRCA1):c.2309C>G (p.Ser770Ter) SNV
Germline		 Chr17:43093222 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589867 rs_80357063

5 SubmittersRCV000256873RCV000812603RCV002446502
NM_007294.4(BRCA1):c.1918C>T (p.Gln640Ter) SNV
Germline		 Chr17:43093613 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA10589909 rs_886039981

4 SubmittersRCV000256851RCV000811225RCV003477872
NM_007294.4(BRCA1):c.1723G>T (p.Glu575Ter) SNV
Germline		 Chr17:43093808 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589923 rs_397508902

4 SubmittersRCV000257301RCV000794574RCV002401969
NM_007294.4(BRCA1):c.1375A>T (p.Lys459Ter) SNV
Germline		 Chr17:43094156 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589943 rs_886039947

4 SubmittersRCV000257775RCV002518775
NM_007294.4(BRCA1):c.1277C>G (p.Ser426Ter) SNV
Germline		 Chr17:43094254 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589951 rs_886039939

3 SubmittersRCV000256642RCV003644955
NM_007294.4(BRCA1):c.1261G>T (p.Glu421Ter) SNV
Germline		 Chr17:43094270 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589954 rs_80357046

5 SubmittersRCV000256520RCV003237805RCV003448293RCV003644954
NM_007294.4(BRCA1):c.1222A>T (p.Lys408Ter) SNV
Germline		 Chr17:43094309 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589958 rs_80357253

3 SubmittersRCV000256923RCV000496794
NM_007294.4(BRCA1):c.1171G>T (p.Glu391Ter) SNV
Germline		 Chr17:43094360 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589964 rs_562553169

4 SubmittersRCV000257699RCV001859505RCV002328751
NM_007294.4(BRCA1):c.963G>A (p.Trp321Ter) SNV
Germline		 Chr17:43094568 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA10589977 rs_886040335

9 SubmittersRCV000257375RCV000637520RCV000735518RCV001019582RCV003477876
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter) SNV
Germline		 Chr17:43094606 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589980 rs_879255498

5 SubmittersRCV000257812RCV000763007RCV001019078RCV001855026
NM_007294.4(BRCA1):c.814G>T (p.Glu272Ter) SNV
Germline		 Chr17:43094717 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10589992 rs_886040321

4 SubmittersRCV000257483RCV001027223RCV001381249
NM_007294.4(BRCA1):c.718C>T (p.Gln240Ter) SNV
Germline		 Chr17:43094813 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA10589999 rs_886040313

6 SubmittersRCV000257246RCV000496842RCV002374437
NM_007294.4(BRCA1):c.260T>A (p.Leu87Ter) SNV
Germline		 Chr17:43104909 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10590026 rs_886040054

5 SubmittersRCV000256657RCV003644959
NM_007294.4(BRCA1):c.5116G>C (p.Gly1706Arg) SNV
Germline		 Chr17:43063910 Pathogenic/Likely pathogenic Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA501117 rs_886040864

4 SubmittersRCV000257949RCV001077614RCV001182323RCV001383769
NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg) SNV
Germline		 Chr17:43063910 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10590060 rs_886040864

5 SubmittersRCV000257990RCV000494689RCV001353435RCV002338815
NM_000059.4(BRCA2):c.476-2A>C SNV
Germline		 Chr13:32326240 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602520 rs_81002853

2 SubmittersRCV000258403RCV001042834
NM_000059.4(BRCA2):c.516+1G>T SNV
Germline		 Chr13:32326283 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602521 rs_397507762

8 SubmittersRCV000258288RCV001723868RCV002338818RCV001855044
NM_000059.4(BRCA2):c.682-2A>C SNV
Germline		 Chr13:32330917 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602526 rs_878853287

4 SubmittersRCV000258313RCV001855045RCV002365287RCV002298558
NM_000059.4(BRCA2):c.793+2T>G SNV
Germline		 Chr13:32331032 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602527 rs_886040942

4 SubmittersRCV000258351RCV001055989RCV003165716
NM_000059.4(BRCA2):c.6937+1G>A SNV
Germline		 Chr13:32344654 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10602533 rs_886040935

3 SubmittersRCV000258242RCV001363655RCV000774991
NM_000059.4(BRCA2):c.6938-1G>A SNV
Germline		 Chr13:32346826 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602535 rs_886040936

5 SubmittersRCV000258239RCV000801410RCV001025818
NM_000059.4(BRCA2):c.7007+2T>A SNV
Germline		 Chr13:32346898 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602536 rs_886040937

2 SubmittersRCV000258164RCV001377949
NM_000059.4(BRCA2):c.7436-2A>G SNV
Germline		 Chr13:32356426 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602538 rs_397507917

3 SubmittersRCV000258250RCV001051245
NM_000059.4(BRCA2):c.7618-2A>G SNV
Germline		 Chr13:32357740 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10602540 rs_886040940

12 SubmittersRCV000258279RCV000575023RCV000985589RCV001218656
NM_000059.4(BRCA2):c.7976+2C>A SNV
Germline		 Chr13:32362695 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602543 rs_886040943

2 SubmittersRCV000258308RCV001859528
NM_000059.4(BRCA2):c.7977-1G>A SNV
Germline		 Chr13:32363178 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602545 rs_81002874

4 SubmittersRCV000258445RCV001388429RCV001176032
NM_000059.4(BRCA2):c.8331+2T>C SNV
Germline		 Chr13:32363535 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602546 rs_398122602

16 SubmittersRCV000258355RCV000519723RCV000496246RCV000581266RCV003463731
NM_000059.4(BRCA2):c.8487+2T>C SNV
Germline		 Chr13:32370559 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602548 rs_886040944

2 SubmittersRCV000258227RCV002518791
NM_000059.4(BRCA2):c.8488-1G>T SNV
Germline		 Chr13:32370955 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602549 rs_397507404

6 SubmittersRCV000258314RCV001017885RCV001051759RCV003477880RCV003475882
NM_000059.4(BRCA2):c.8754+1G>T SNV
Germline		 Chr13:32376792 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast carcinoma
BRCA2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602551 rs_397508006

9 SubmittersRCV000258328RCV000430537RCV000570219RCV001380520RCV001572629RCV002221522
NM_000059.4(BRCA2):c.8954-5A>G SNV
Germline		 Chr13:32379745 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602555 rs_886040949

13 SubmittersRCV000258499RCV000461006RCV000562165RCV000985614RCV002250610RCV003128237
NM_000059.4(BRCA2):c.9117G>T (p.Pro3039=) SNV
Germline		 Chr13:32379913 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10602557 rs_28897756

3 SubmittersRCV000258500RCV001227101RCV001328369
NM_000059.4(BRCA2):c.9118-2A>T SNV
Germline		 Chr13:32380005 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602561 rs_81002862

3 SubmittersRCV000258235RCV000820135RCV002374445
NM_000059.4(BRCA2):c.9118-1G>A SNV
Germline		 Chr13:32380006 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602562 rs_886040950

5 SubmittersRCV000258263RCV000726023RCV002518792
NM_000059.4(BRCA2):c.9257-2A>G SNV
Germline		 Chr13:32394687 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602565 rs_886040954

7 SubmittersRCV000258310RCV000456394RCV000510064RCV001553412RCV003475884
NM_000059.4(BRCA2):c.9501+1G>T SNV
Germline		 Chr13:32394934 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602568 rs_397508058

5 SubmittersRCV000258166RCV000779967RCV001019433RCV001800642
NM_007294.4(BRCA1):c.5333-1G>T SNV
Germline/somatic		 Chr17:43049195 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Neoplasm of ovary
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10590802 rs_80358126

6 SubmittersRCV000258430RCV000690664RCV000785577RCV001023942
NM_007294.4(BRCA1):c.5332+2T>C SNV
Germline		 Chr17:43051061 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10590890 rs_80358182

4 SubmittersRCV000258412RCV000559295RCV002347981
NM_007294.4(BRCA1):c.5332+1G>T SNV
Germline		 Chr17:43051062 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10590891 rs_80358041

5 SubmittersRCV000258497RCV000774989RCV002519026
NM_007294.4(BRCA1):c.5278-2A>G SNV
Germline		 Chr17:43051119 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10590992 rs_397509253

5 SubmittersRCV000258354RCV000496299RCV001023845
NM_007294.4(BRCA1):c.4987-5T>C SNV
Germline		 Chr17:43067700 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602584 rs_397509214

6 SubmittersRCV000258194RCV000496749RCV000797612RCV002250609
NM_007294.4(BRCA1):c.4986+5G>C SNV
Germline		 Chr17:43070923 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602586 rs_397509211

3 SubmittersRCV000258270RCV002519025
NM_007294.4(BRCA1):c.4675+2T>C SNV
Germline		 Chr17:43074329 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10592159 rs_879255293

3 SubmittersRCV000258318RCV001022881RCV001381895
NM_007294.4(BRCA1):c.4675+2T>A SNV
Germline		 Chr17:43074329 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA10592160 rs_879255293

2 SubmittersRCV000258243RCV000496422
NM_007294.4(BRCA1):c.4675+1G>C SNV
Germline		 Chr17:43074330 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA10592161 rs_80358044

2 SubmittersRCV000258472RCV000845276
NM_007294.4(BRCA1):c.4485-1G>C SNV
Germline		 Chr17:43074522 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10592559 rs_80358189

2 SubmittersRCV000258379RCV003644977
NM_007294.4(BRCA1):c.4484+5G>C SNV
Germline		 Chr17:43076483 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602588 rs_886040910

3 SubmittersRCV000258362RCV000845275
NM_007294.4(BRCA1):c.4484+1G>T SNV
Germline		 Chr17:43076487 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10592565 rs_80358063

4 SubmittersRCV000258231RCV001043166RCV001271024
NM_007294.4(BRCA1):c.671-2A>T SNV
Germline		 Chr17:43094862 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10600750 rs_80358108

3 SubmittersRCV000258202RCV000496218
NM_007294.4(BRCA1):c.671-2A>G SNV
Germline		 Chr17:43094862 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10600751 rs_80358108

5 SubmittersRCV000258427RCV000823108RCV001572199RCV002365286
NM_007294.4(BRCA1):c.301+1G>C SNV
Germline		 Chr17:43104867 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA055552 rs_587782173

7 SubmittersRCV000258159RCV000509904RCV000705646RCV001589310
NM_007294.4(BRCA1):c.213-15A>G SNV
Germline		 Chr17:43104971 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10602606 rs_886040903

4 SubmittersRCV000258182RCV000521647RCV000774990RCV001855043
NM_007294.4(BRCA1):c.212G>C (p.Arg71Thr) SNV
Germline		 Chr17:43106456 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Neoplasm of ovary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10601745 rs_80356913

7 SubmittersRCV000258471RCV000584047RCV000537219RCV000785200
NM_007294.4(BRCA1):c.134+1G>A SNV
Germline		 Chr17:43115725 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10601889 rs_80358043

4 SubmittersRCV000258371RCV002379106RCV002518790
NM_007294.4(BRCA1):c.117T>G (p.Cys39Trp) SNV
Germline		 Chr17:43115743 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10601925 rs_886040898

3 SubmittersRCV000258480RCV000703438
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly) SNV
Germline		 Chr13:32363315 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6941189 rs_756105620

8 SubmittersRCV000335958RCV000510067RCV000530767RCV000586599RCV001535652RCV003995749
NM_007294.4(BRCA1):c.4009G>C (p.Asp1337His) SNV
Germline		 Chr17:43091522 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10593943 rs_886041144

4 SubmittersRCV000259337RCV000637752RCV001021647
NM_000059.4(BRCA2):c.7020A>G (p.Glu2340=) SNV
Germline		 Chr13:32354873 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10604012 rs_886042269

4 SubmittersRCV000344784RCV000581235RCV002059095
NM_001018115.3(FANCD2):c.491+10G>A SNV
Germline		 Chr3:10036349 Conflicting classifications of pathogenicity Fanconi anemia
Fanconi anemia complementation group D2
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA2249233 rs_17032279

5 SubmittersRCV000317060RCV001094770RCV001821030RCV002225594
NM_020937.4(FANCM):c.2240A>G (p.His747Arg) SNV
Germline		 Chr14:45173134 Conflicting classifications of pathogenicity Fanconi anemia
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7169295 rs_181827583

3 SubmittersRCV000280719RCV001030476RCV001597071
NM_020937.4(FANCM):c.4709G>A (p.Arg1570His) SNV
Germline		 Chr14:45187817 Conflicting classifications of pathogenicity Fanconi anemia
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
FANCM-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7169843 rs_201803784

5 SubmittersRCV000402989RCV001030549RCV002256202RCV004544559RCV003229827
NM_007294.4(BRCA1):c.-86C>T SNV
Germline		 Chr17:43125337 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Breast and/or ovarian cancer
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA059887 rs_143160357

9 SubmittersRCV000354064RCV000501570RCV000735614RCV001004838RCV001690071RCV003105869
NM_007294.4(BRCA1):c.5467+14A>G SNV
Germline		 Chr17:43047629 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10649335 rs_886052974

3 SubmittersRCV001072178RCV001394087
NM_000051.4(ATM):c.4776+2T>A SNV
Germline		 Chr11:108293479 Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16041412 rs_587781927

9 SubmittersRCV000412136RCV000775841RCV001030531RCV003168593RCV004022141
NM_000059.4(BRCA2):c.1223T>C (p.Met408Thr) SNV
Germline		 Chr13:32332701 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16042137 rs_1057517562

5 SubmittersRCV000412475RCV001010412RCV001850978
NM_000059.4(BRCA2):c.4474A>T (p.Lys1492Ter) SNV
Germline		 Chr13:32338829 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042139 rs_1057517636

3 SubmittersRCV000411097RCV001850980RCV002328899
NM_007294.4(BRCA1):c.5407-25T>A SNV
Germline		 Chr17:43047728 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA16042163 rs_758780152

8 SubmittersRCV000410033RCV000496748RCV000538853RCV001024052RCV001731667RCV004554765
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter) SNV
Germline		 Chr17:43094662 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10600340 rs_730881468

5 SubmittersRCV000410713RCV001039562RCV002374614
NM_000059.4(BRCA2):c.1370A>G (p.Lys457Arg) SNV
Germline		 Chr13:32332848 Conflicting classifications of pathogenicity Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940515 rs_771442299

3 SubmittersRCV000413908RCV001216354RCV003157508
NM_000059.4(BRCA2):c.2266C>T (p.Gln756Ter) SNV
Germline/somatic		 Chr13:32336621 Pathogenic Breast neoplasm
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA16043337 rs_1057518637

5 SubmittersRCV000414647RCV000509837RCV000661584RCV001071001RCV003332165
NM_000059.4(BRCA2):c.6550C>T (p.Gln2184Ter) SNV
Germline		 Chr13:32340905 Pathogenic Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA16043340 rs_80358887

4 SubmittersRCV000413131RCV000661521RCV001380432RCV004022179
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro) SNV
Germline		 Chr17:43070951 Conflicting classifications of pathogenicity Breast neoplasm
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10591598 rs_1057518639

7 SubmittersRCV000414437RCV000675184RCV000989875RCV001357954RCV003237839
NM_000059.4(BRCA2):c.6263C>T (p.Thr2088Ile) SNV
Germline		 Chr13:32340618 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940940 rs_767567428

10 SubmittersRCV000415863RCV000455182RCV000464688RCV000487865RCV000568895
NM_007294.4(BRCA1):c.3028C>T (p.Pro1010Ser) SNV
Germline		 Chr17:43092503 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595936 rs_1057519249

4 SubmittersRCV000415656RCV001343171RCV002436241
NM_007294.4(BRCA1):c.5000A>G (p.Lys1667Arg) SNV
Germline		 Chr17:43067682 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10591520 rs_1057519495

3 SubmittersRCV000416530RCV001076928RCV003168611
NM_007294.4(BRCA1):c.4981G>A (p.Glu1661Lys) SNV
Germline		 Chr17:43070933 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10591564 rs_80357401

7 SubmittersRCV000416506RCV000586506RCV000509960RCV001077875
NM_007294.4(BRCA1):c.3902G>A (p.Ser1301Asn) SNV
Germline		 Chr17:43091629 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10594161 rs_1057519496

9 SubmittersRCV000416523RCV000509773RCV000586928RCV002265753RCV003493568
NM_007294.4(BRCA1):c.4243G>T (p.Glu1415Ter) SNV
Germline		 Chr17:43082518 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA10593235 rs_1057519558

2 SubmittersRCV000417027RCV000661024
NM_000059.4(BRCA2):c.-60A>G SNV
Germline		 Chr13:32315647 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16606404 rs_1057522793

2 SubmittersRCV000441128RCV001361386
NM_000059.4(BRCA2):c.1909+6T>A SNV
Germline		 Chr13:32333393 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16606419 rs_1057522382

3 SubmittersRCV000420996RCV000530737RCV001524772
NM_000059.4(BRCA2):c.4354C>T (p.Gln1452Ter) SNV
Germline		 Chr13:32338709 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA16606424 rs_431825319

5 SubmittersRCV000423930RCV000661657RCV000792245RCV002328935
NM_000059.4(BRCA2):c.6640A>G (p.Thr2214Ala) SNV
Germline		 Chr13:32340995 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16606429 rs_377200598

5 SubmittersRCV000689694RCV000775914RCV001703679
NM_000059.4(BRCA2):c.8331+16C>T SNV
Germline		 Chr13:32363549 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16606444 rs_730881595

3 SubmittersRCV000417849RCV001434792
NM_000059.4(BRCA2):c.9649-5A>G SNV
Germline		 Chr13:32398157 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16606458 rs_1057522325

4 SubmittersRCV000426647RCV001492370RCV001800670RCV004022399
NM_000059.4(BRCA2):c.-10G>C SNV
Germline		 Chr13:32316451 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940302 rs_754814638

3 SubmittersRCV000425961RCV001179123RCV001475044
NM_000059.4(BRCA2):c.316+18G>A SNV
Germline		 Chr13:32319343 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940342 rs_760439858

4 SubmittersRCV000425170RCV000457118RCV000580477
NM_000059.4(BRCA2):c.2819A>G (p.Gln940Arg) SNV
Germline		 Chr13:32337174 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16606666 rs_1057520249

5 SubmittersRCV000440722RCV001202899RCV002436244
NM_000059.4(BRCA2):c.6937+17A>T SNV
Germline		 Chr13:32344670 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16606695 rs_1057522185

3 SubmittersRCV000431854RCV001414122
NM_000059.4(BRCA2):c.9990A>C (p.Glu3330Asp) SNV
Germline		 Chr13:32398503 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16606711 rs_1057520433

3 SubmittersRCV000438839RCV000472119RCV000571359
NM_000059.4(BRCA2):c.10018G>A (p.Ala3340Thr) SNV
Germline		 Chr13:32398531 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16606713 rs_919415219

4 SubmittersRCV000437924RCV001180015RCV002525390
NM_000059.4(BRCA2):c.-51C>T SNV
Germline		 Chr13:32315656 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16606763 rs_1057521841

3 SubmittersRCV001350222RCV000417554
NM_000059.4(BRCA2):c.67+18A>G SNV
Germline		 Chr13:32316545 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16606764 rs_1057524048

4 SubmittersRCV000430399RCV000553628RCV000776551
NM_000059.4(BRCA2):c.516+17G>C SNV
Germline		 Chr13:32326299 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940383 rs_765435155

3 SubmittersRCV000435919RCV000471540
NM_000059.4(BRCA2):c.7470A>G (p.Ile2490Met) SNV
Germline		 Chr13:32356462 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16606809 rs_1057520611

4 SubmittersRCV000417686RCV000694230RCV001026476RCV003996024
NM_000059.4(BRCA2):c.8355T>C (p.Pro2785=) SNV
Germline		 Chr13:32370425 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA16606823 rs_1057524419

6 SubmittersRCV000430153RCV000584263RCV002060084RCV004539911
NM_000059.4(BRCA2):c.9118-3T>C SNV
Germline		 Chr13:32380004 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16606828 rs_1057522934

2 SubmittersRCV000419809RCV003644982
NM_000059.4(BRCA2):c.10195G>A (p.Ala3399Thr) SNV
Germline		 Chr13:32398708 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16606845 rs_1057521734

3 SubmittersRCV000418421RCV000691460RCV002356562
NM_007294.4(BRCA1):c.1248A>G (p.Leu416=) SNV
Germline		 Chr17:43094283 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA16607277 rs_1057522369

7 SubmittersRCV000423735RCV000541302RCV000561810RCV003477923RCV004000434
NM_000059.4(BRCA2):c.2239G>A (p.Glu747Lys) SNV
Germline		 Chr13:32336594 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16607460 rs_878853561

5 SubmittersRCV000431436RCV001861518RCV002429388
NM_000059.4(BRCA2):c.3989A>G (p.Asn1330Ser) SNV
Germline		 Chr13:32338344 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16607464 rs_1057520792

5 SubmittersRCV000442000RCV000775925RCV001038220
NM_000059.4(BRCA2):c.6979T>C (p.Leu2327=) SNV
Germline		 Chr13:32346868 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16607480 rs_959097768

6 SubmittersRCV000422532RCV000460365RCV000567235RCV003477924RCV004000456
NM_000059.4(BRCA2):c.9995C>G (p.Ser3332Cys) SNV
Germline		 Chr13:32398508 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16607505 rs_876658246

3 SubmittersRCV000432460RCV001218105RCV002379292
NM_007294.4(BRCA1):c.4675+20A>G SNV
Germline		 Chr17:43074311 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA052665 rs_780870669

4 SubmittersRCV000431894RCV000558594RCV000579868
NM_007294.4(BRCA1):c.302-11G>A SNV
Germline		 Chr17:43104272 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16607639 rs_1057521776

4 SubmittersRCV000423960RCV000637892RCV001181110
NM_007294.4(BRCA1):c.5152+15A>G SNV
Germline		 Chr17:43063859 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA053986 rs_750905289

6 SubmittersRCV000439630RCV000496840RCV000580343RCV000588153
NM_007294.4(BRCA1):c.5075-3C>T SNV
Germline		 Chr17:43063954 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16607660 rs_398122690

5 SubmittersRCV000564447RCV001077544RCV001222915RCV002464196
NM_007294.4(BRCA1):c.5277+6G>T SNV
Germline		 Chr17:43057046 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16608433 rs_1057523590

5 SubmittersRCV000427419RCV001076716RCV001237568
NM_007294.4(BRCA1):c.1920A>G (p.Gln640=) SNV
Germline		 Chr17:43093611 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16608453 rs_587782843

3 SubmittersRCV000441715RCV000464536RCV000566210
NM_007294.4(BRCA1):c.547+14G>A SNV
Germline		 Chr17:43099761 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16608461 rs_932782447

3 SubmittersRCV000419029RCV000589244RCV001078922
NM_007294.4(BRCA1):c.-16A>G SNV
Germline		 Chr17:43124112 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA053947 rs_777262055

5 SubmittersRCV000424886RCV000776486RCV000692018RCV001078058
NM_007294.4(BRCA1):c.-20+13C>T SNV
Germline		 Chr17:43125258 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA055026 rs_770368390

3 SubmittersRCV000440746RCV000936172RCV001122392
NM_000465.4(BARD1):c.977A>G (p.Asn326Ser) SNV
Germline		 Chr2:214780897 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2090354 rs_779960429

5 SubmittersRCV000456378RCV000575266RCV001030669RCV001800675
NM_000179.3(MSH6):c.1660C>T (p.Arg554Cys) SNV
Germline		 Chr2:47799643 Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Endometrial carcinoma		 Criteria Provided
Conflicting Classifications
 CA067976 rs_775716798

6 SubmittersRCV000473757RCV000580839RCV001030493RCV001566013RCV004568055
NM_000059.4(BRCA2):c.517-17A>G SNV
Germline		 Chr13:32326482 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16613807 rs_1060504603

3 SubmittersRCV000462839RCV000600258
NM_000059.4(BRCA2):c.632-2A>C SNV
Germline		 Chr13:32329441 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613815 rs_397507842

2 SubmittersRCV000462608RCV000562710
NM_000059.4(BRCA2):c.1082A>G (p.Asn361Ser) SNV
Germline		 Chr13:32332560 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613829 rs_1060502495

2 SubmittersRCV000458230RCV003157554
NM_000059.4(BRCA2):c.1831T>G (p.Ser611Ala) SNV
Germline		 Chr13:32333309 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613843 rs_1060502431

2 SubmittersRCV000463684RCV003157536
NM_000059.4(BRCA2):c.1867A>G (p.Asn623Asp) SNV
Germline		 Chr13:32333345 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613846 rs_1060502388

3 SubmittersRCV000466100RCV000564189
NM_000059.4(BRCA2):c.1973C>T (p.Ser658Phe) SNV
Germline		 Chr13:32336328 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940570 rs_775060172

3 SubmittersRCV000463284RCV001176131
NM_000059.4(BRCA2):c.2362G>A (p.Gly788Ser) SNV
Germline		 Chr13:32336717 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613860 rs_1060502434

5 SubmittersRCV000470991RCV001194023RCV001188078
NM_000059.4(BRCA2):c.2540G>A (p.Arg847Lys) SNV
Germline		 Chr13:32336895 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613862 rs_1060502457

2 SubmittersRCV000465737RCV003157543
NM_000059.4(BRCA2):c.2924T>A (p.Ile975Asn) SNV
Germline		 Chr13:32337279 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613864 rs_398122756

10 SubmittersRCV000466456RCV000588340RCV000624980RCV002268084RCV002436435
NM_000059.4(BRCA2):c.3069C>A (p.Asn1023Lys) SNV
Germline		 Chr13:32337424 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940660 rs_759181823

5 SubmittersRCV000459905RCV000662934RCV001191078
NM_000059.4(BRCA2):c.3122G>C (p.Ser1041Thr) SNV
Germline		 Chr13:32337477 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16613866 rs_276174832

7 SubmittersRCV000469157RCV000663133RCV000773051RCV002282154
NM_000059.4(BRCA2):c.3251G>A (p.Ser1084Asn) SNV
Germline		 Chr13:32337606 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA6940684 rs_543748012

7 SubmittersRCV000477381RCV000773251RCV001712318RCV003488624
NM_000059.4(BRCA2):c.3836A>G (p.Asn1279Ser) SNV
Germline		 Chr13:32338191 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA16613874 rs_1060502384

6 SubmittersRCV000474984RCV000509695RCV002465659RCV003607287
NM_000059.4(BRCA2):c.4117A>G (p.Met1373Val) SNV
Germline		 Chr13:32338472 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940749 rs_781119815

3 SubmittersRCV000464729RCV003157537
NM_000059.4(BRCA2):c.4381T>C (p.Ser1461Pro) SNV
Germline		 Chr13:32338736 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613884 rs_1060502490

3 SubmittersRCV000467486RCV002329059
NM_000059.4(BRCA2):c.4504C>G (p.Gln1502Glu) SNV
Germline		 Chr13:32338859 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613885 rs_1060502425

4 SubmittersRCV000458369RCV000985527RCV002339165
NM_000059.4(BRCA2):c.4861T>G (p.Cys1621Gly) SNV
Germline		 Chr13:32339216 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16613886 rs_1060502419

5 SubmittersRCV000459778RCV000580354RCV001805070
NM_000059.4(BRCA2):c.5275G>C (p.Asp1759His) SNV
Germline		 Chr13:32339630 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613889 rs_1060502456

2 SubmittersRCV000468148RCV003157541
NM_000059.4(BRCA2):c.5696A>G (p.Asp1899Gly) SNV
Germline		 Chr13:32340051 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613894 rs_1060502461

2 SubmittersRCV000462894RCV003157546
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr) SNV
Germline		 Chr13:32340240 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16613899 rs_1060502377

10 SubmittersRCV000457036RCV000499719RCV000564384RCV000770729RCV000989045
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr) SNV
Germline		 Chr13:32340885 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions		 Criteria Provided
Conflicting Classifications
 CA16613906 rs_1060502462

5 SubmittersRCV000458606RCV000776542RCV002496773
NM_000059.4(BRCA2):c.681+1G>T SNV
Germline		 Chr13:32329493 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 CA16613912 rs_398122565

1 SubmittersRCV000456729
NM_000059.4(BRCA2):c.6691G>T (p.Ala2231Ser) SNV
Germline		 Chr13:32341046 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613914 rs_758379999

2 SubmittersRCV000457998RCV003157528
NM_000059.4(BRCA2):c.993A>C (p.Lys331Asn) SNV
Germline		 Chr13:32332471 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613923 rs_1060502486

3 SubmittersRCV000457199RCV003157552
NM_000059.4(BRCA2):c.1127T>C (p.Phe376Ser) SNV
Germline		 Chr13:32332605 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16613925 rs_80358410

7 SubmittersRCV000476619RCV000758858RCV000775932RCV001199865
NM_000059.4(BRCA2):c.7162A>G (p.Thr2388Ala) SNV
Germline		 Chr13:32355015 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16613931 rs_1060502390

5 SubmittersRCV000469239RCV000574955RCV000615171RCV003477975
NM_000059.4(BRCA2):c.1583A>G (p.Asn528Ser) SNV
Germline		 Chr13:32333061 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613933 rs_1060502393

4 SubmittersRCV000464630RCV000570319
NM_000059.4(BRCA2):c.1714G>C (p.Val572Leu) SNV
Germline		 Chr13:32333192 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613934 rs_587782713

6 SubmittersRCV000475636RCV000506803RCV000989003RCV001192344
NM_000059.4(BRCA2):c.1949A>G (p.Asn650Ser) SNV
Germline		 Chr13:32336304 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940566 rs_773619645

6 SubmittersRCV000476081RCV000772732RCV001532895RCV004000812
NM_000059.4(BRCA2):c.2269A>G (p.Lys757Glu) SNV
Germline		 Chr13:32336624 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613937 rs_886040419

3 SubmittersRCV000456308RCV002446822
NM_000059.4(BRCA2):c.2841G>T (p.Leu947Phe) SNV
Germline		 Chr13:32337196 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6940634 rs_769971508

4 SubmittersRCV000462471RCV000574394RCV001778965
NM_000059.4(BRCA2):c.2864A>G (p.Asn955Ser) SNV
Germline		 Chr13:32337219 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613941 rs_1060502435

2 SubmittersRCV000476520RCV003157538
NM_000059.4(BRCA2):c.3152T>C (p.Leu1051Ser) SNV
Germline		 Chr13:32337507 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940671 rs_778281493

5 SubmittersRCV000470166RCV000571433RCV000989021
NM_000059.4(BRCA2):c.3155C>T (p.Ala1052Val) SNV
Germline		 Chr13:32337510 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613944 rs_1060502453

4 SubmittersRCV000468157RCV000482169RCV002323727
NM_000059.4(BRCA2):c.3254A>C (p.His1085Pro) SNV
Germline		 Chr13:32337609 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16613945 rs_80358570

3 SubmittersRCV000457519RCV003157544RCV004000816
NM_000059.4(BRCA2):c.7967T>A (p.Leu2656Gln) SNV
Germline		 Chr13:32362684 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613950 rs_886037817

2 SubmittersRCV000466411RCV001027008
NM_000059.4(BRCA2):c.3529G>A (p.Asp1177Asn) SNV
Germline		 Chr13:32337884 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613951 rs_1060502397

3 SubmittersRCV000468498RCV002339164
NM_000059.4(BRCA2):c.3630T>G (p.Asp1210Glu) SNV
Germline		 Chr13:32337985 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16613952 rs_786202991

6 SubmittersRCV000461988RCV000775808RCV002509389RCV003477976
NM_000059.4(BRCA2):c.3827A>T (p.Glu1276Val) SNV
Germline		 Chr13:32338182 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613956 rs_1060502487

2 SubmittersRCV000466876RCV003157553
NM_000059.4(BRCA2):c.4244A>G (p.Glu1415Gly) SNV
Germline		 Chr13:32338599 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA16613961 rs_1060502399

7 SubmittersRCV000478019RCV000471686RCV000781078RCV001189703RCV003327403
NM_000059.4(BRCA2):c.4709G>A (p.Arg1570Lys) SNV
Germline		 Chr13:32339064 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613974 rs_1060502472

3 SubmittersRCV000472081RCV002329058
NM_000059.4(BRCA2):c.9442G>T (p.Ala3148Ser) SNV
Germline		 Chr13:32394874 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16613976 rs_949790323

6 SubmittersRCV000470163RCV000508342RCV000570747RCV000989087
NM_000059.4(BRCA2):c.4785G>T (p.Gln1595His) SNV
Germline		 Chr13:32339140 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613977 rs_1060502499

3 SubmittersRCV000476642RCV001357236RCV003157555
NM_000059.4(BRCA2):c.5186A>C (p.Lys1729Thr) SNV
Germline		 Chr13:32339541 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6940852 rs_772860507

5 SubmittersRCV000474437RCV000772754RCV001778966
NM_000059.4(BRCA2):c.5402C>T (p.Pro1801Leu) SNV
Germline		 Chr13:32339757 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613981 rs_1060502429

2 SubmittersRCV000459413RCV003157535
NM_000059.4(BRCA2):c.5738G>A (p.Cys1913Tyr) SNV
Germline		 Chr13:32340093 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613982 rs_1060502460

4 SubmittersRCV000475767RCV000580620
NM_000059.4(BRCA2):c.5861C>T (p.Thr1954Ile) SNV
Germline		 Chr13:32340216 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613983 rs_1060502413

4 SubmittersRCV000473726RCV000500717RCV001524489
NM_000059.4(BRCA2):c.5900A>T (p.Lys1967Met) SNV
Germline		 Chr13:32340255 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613988 rs_959089047

3 SubmittersRCV000458121RCV000561855
NM_000059.4(BRCA2):c.6246A>C (p.Glu2082Asp) SNV
Germline		 Chr13:32340601 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613989 rs_1060502474

3 SubmittersRCV000472820RCV002365643
NM_000059.4(BRCA2):c.6271A>G (p.Ser2091Gly) SNV
Germline		 Chr13:32340626 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16613992 rs_398122550

5 SubmittersRCV000465291RCV001524355RCV002248685RCV003477979
NM_000059.4(BRCA2):c.6388T>C (p.Phe2130Leu) SNV
Germline		 Chr13:32340743 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16613994 rs_929941099

4 SubmittersRCV000459896RCV001025207
NM_000059.4(BRCA2):c.6697G>C (p.Ala2233Pro) SNV
Germline		 Chr13:32341052 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614001 rs_1060502396

3 SubmittersRCV000473859RCV003157529
NM_000059.4(BRCA2):c.8766T>G (p.Ser2922Arg) SNV
Germline		 Chr13:32379328 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614020 rs_1060502497

3 SubmittersRCV000460726RCV000580679
NM_000059.4(BRCA2):c.426-1G>A SNV
Germline		 Chr13:32326100 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 CA16614098 rs_1060502485

1 SubmittersRCV000470985
NM_000059.4(BRCA2):c.636A>G (p.Arg212=) SNV
Germline		 Chr13:32329447 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16614101 rs_950724350

4 SubmittersRCV000469866RCV000563488RCV000588569RCV001534256
NM_000059.4(BRCA2):c.955A>G (p.Asn319Asp) SNV
Germline		 Chr13:32332433 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16614103 rs_1060502491

5 SubmittersRCV000462690RCV000583105RCV004000822
NM_000059.4(BRCA2):c.2027G>C (p.Cys676Ser) SNV
Germline		 Chr13:32336382 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614118 rs_1060502422

2 SubmittersRCV000461375RCV003157533
NM_000059.4(BRCA2):c.2482T>C (p.Tyr828His) SNV
Germline		 Chr13:32336837 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast neoplasm		 Criteria Provided
Conflicting Classifications
 CA16614121 rs_1060502466

6 SubmittersRCV000463755RCV000487989RCV000566807RCV000677829
NM_000059.4(BRCA2):c.3112T>C (p.Tyr1038His) SNV
Germline		 Chr13:32337467 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614131 rs_1060502423

2 SubmittersRCV000460299RCV003157534
NM_000059.4(BRCA2):c.3191C>A (p.Ser1064Ter) SNV
Germline		 Chr13:32337546 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast		 Reviewed By Expert Panel
 CA16614134 rs_864622609

4 SubmittersRCV000456624RCV000570603RCV000661562RCV003476089
NM_000059.4(BRCA2):c.3769C>A (p.Pro1257Thr) SNV
Germline		 Chr13:32338124 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614137 rs_1060502438

2 SubmittersRCV000466270RCV003157539
NM_000059.4(BRCA2):c.4024A>G (p.Ser1342Gly) SNV
Germline		 Chr13:32338379 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16614147 rs_1060502476

7 SubmittersRCV000481471RCV000476675RCV000564249RCV000662790
NM_000059.4(BRCA2):c.4347C>A (p.Phe1449Leu) SNV
Germline		 Chr13:32338702 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614149 rs_1060502450

3 SubmittersRCV000466624RCV001183455
NM_000059.4(BRCA2):c.4798A>G (p.Asn1600Asp) SNV
Germline		 Chr13:32339153 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940814 rs_774484160

5 SubmittersRCV000456945RCV000567251RCV001283925
NM_000059.4(BRCA2):c.4970A>G (p.Asn1657Ser) SNV
Germline		 Chr13:32339325 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614154 rs_1060502382

2 SubmittersRCV000459262RCV003157524
NM_000059.4(BRCA2):c.4988T>C (p.Val1663Ala) SNV
Germline		 Chr13:32339343 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614162 rs_1060502436

4 SubmittersRCV000461650RCV000775807
NM_000059.4(BRCA2):c.5081G>A (p.Arg1694Lys) SNV
Germline		 Chr13:32339436 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614170 rs_753721331

5 SubmittersRCV000461678RCV002272244RCV003607288RCV003157551
NM_000059.4(BRCA2):c.5864C>T (p.Ser1955Leu) SNV
Germline		 Chr13:32340219 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614179 rs_80358815

4 SubmittersRCV000476307RCV000775930
NM_000059.4(BRCA2):c.6084A>C (p.Glu2028Asp) SNV
Germline		 Chr13:32340439 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16614188 rs_747773227

4 SubmittersRCV000458386RCV002356684RCV004000814
NM_000059.4(BRCA2):c.6089A>G (p.Asn2030Ser) SNV
Germline		 Chr13:32340444 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614190 rs_1060502402

2 SubmittersRCV000465240RCV003157530
NM_000059.4(BRCA2):c.6476A>G (p.Gln2159Arg) SNV
Germline		 Chr13:32340831 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614195 rs_763486267

4 SubmittersRCV000462034RCV000573880
NM_000059.4(BRCA2):c.6631G>T (p.Val2211Phe) SNV
Germline		 Chr13:32340986 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614197 rs_1060502445

3 SubmittersRCV000466730RCV002365642
NM_000059.4(BRCA2):c.6697G>A (p.Ala2233Thr) SNV
Germline		 Chr13:32341052 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614198 rs_1060502396

2 SubmittersRCV000471117RCV003157545
NM_000059.4(BRCA2):c.6812A>G (p.Lys2271Arg) SNV
Germline		 Chr13:32341167 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614200 rs_577406621

2 SubmittersRCV000469676RCV003157547
NM_000059.4(BRCA2):c.7722G>A (p.Trp2574Ter) SNV
Germline/somatic		 Chr13:32357846 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Malignant tumor of urinary bladder		 Reviewed By Expert Panel
 CA16614212 rs_1060502433

6 SubmittersRCV000472083RCV000563168RCV000661664RCV003476088RCV003332176
NM_000059.4(BRCA2):c.7876T>A (p.Trp2626Arg) SNV
Germline		 Chr13:32362593 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 CA16614217 rs_1060502459

1 SubmittersRCV000465347
NM_000059.4(BRCA2):c.7993G>T (p.Asp2665Tyr) SNV
Germline		 Chr13:32363195 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16614221 rs_921017191

4 SubmittersRCV000475758RCV000580611RCV002298600
NM_000059.4(BRCA2):c.1087A>G (p.Thr363Ala) SNV
Germline		 Chr13:32332565 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614223 rs_1060502440

3 SubmittersRCV000464652RCV003157540
NM_000059.4(BRCA2):c.8488-10A>G SNV
Germline		 Chr13:32370946 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6941249 rs_749196803

4 SubmittersRCV000480693RCV001089135RCV001194059RCV001190857
NM_000059.4(BRCA2):c.1845C>A (p.Asn615Lys) SNV
Germline		 Chr13:32333323 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16614236 rs_941500711

5 SubmittersRCV000462345RCV001284558RCV002411478RCV004000820
NM_000059.4(BRCA2):c.2153A>C (p.Glu718Ala) SNV
Germline		 Chr13:32336508 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614243 rs_1060502427

3 SubmittersRCV000460441RCV002429512
NM_000059.4(BRCA2):c.2359A>G (p.Arg787Gly) SNV
Germline		 Chr13:32336714 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614246 rs_1060502451

3 SubmittersRCV000468693RCV001015282
NM_000059.4(BRCA2):c.2383T>C (p.Ser795Pro) SNV
Germline		 Chr13:32336738 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614249 rs_878853563

2 SubmittersRCV000459755RCV003157531
NM_000059.4(BRCA2):c.2590C>T (p.Gln864Ter) SNV
Germline		 Chr13:32336945 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA16614253 rs_1060502414

4 SubmittersRCV000461340RCV000661527RCV002429511RCV002480411
NM_000059.4(BRCA2):c.2661G>C (p.Glu887Asp) SNV
Germline		 Chr13:32337016 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16614255 rs_876659892

4 SubmittersRCV000467039RCV002429513RCV004000815
NM_000059.4(BRCA2):c.3077A>G (p.Lys1026Arg) SNV
Germline		 Chr13:32337432 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16614262 rs_1060502380

5 SubmittersRCV000474203RCV000561730RCV004000807
NM_000059.4(BRCA2):c.3106G>T (p.Glu1036Ter) SNV
Germline		 Chr13:32337461 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast		 Reviewed By Expert Panel
 CA16614263 rs_1060502449

5 SubmittersRCV000456163RCV000567715RCV000661471RCV003463918
NM_000059.4(BRCA2):c.3227T>C (p.Val1076Ala) SNV
Germline		 Chr13:32337582 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA16614265 rs_1060502498

6 SubmittersRCV000477400RCV000564131RCV000985497RCV001355655
NM_000059.4(BRCA2):c.3252T>G (p.Ser1084Arg) SNV
Germline		 Chr13:32337607 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16614266 rs_1060502412

4 SubmittersRCV000474282RCV002323726RCV004000810
NM_000059.4(BRCA2):c.3482A>G (p.Asp1161Gly) SNV
Germline		 Chr13:32337837 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA16614289 rs_1060502458

5 SubmittersRCV000469662RCV002451114RCV003153626RCV003987541
NM_000059.4(BRCA2):c.3515C>A (p.Ser1172Ter) SNV
Germline		 Chr13:32337870 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Reviewed By Expert Panel
 CA16614291 rs_80358600

2 SubmittersRCV000460996RCV000661679
NM_000059.4(BRCA2):c.3595G>A (p.Asp1199Asn) SNV
Germline		 Chr13:32337950 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16614292 rs_1060502404

7 SubmittersRCV000484479RCV000476241RCV001192346RCV002466506
NM_000059.4(BRCA2):c.3704A>G (p.Gln1235Arg) SNV
Germline		 Chr13:32338059 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614294 rs_1060502424

4 SubmittersRCV000467120RCV002348318
NM_000059.4(BRCA2):c.4039G>A (p.Val1347Ile) SNV
Germline		 Chr13:32338394 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16614299 rs_80358653

3 SubmittersRCV000470587RCV003157548RCV004000817
NM_000059.4(BRCA2):c.4085A>G (p.His1362Arg) SNV
Germline		 Chr13:32338440 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA16614300 rs_1060502441

6 SubmittersRCV000474555RCV000775929RCV002250631
NM_000059.4(BRCA2):c.4335A>C (p.Lys1445Asn) SNV
Germline		 Chr13:32338690 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614301 rs_1060502480

2 SubmittersRCV000457135RCV003157550
NM_000059.4(BRCA2):c.4414A>G (p.Lys1472Glu) SNV
Germline		 Chr13:32338769 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940778 rs_757821270

4 SubmittersRCV000470451RCV000501166RCV001022450
NM_000059.4(BRCA2):c.4597A>G (p.Lys1533Glu) SNV
Germline		 Chr13:32338952 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614306 rs_1060502418

3 SubmittersRCV000464981RCV000985530RCV003157532
NM_000059.4(BRCA2):c.4676T>G (p.Phe1559Cys) SNV
Germline		 Chr13:32339031 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16614311 rs_1060502411

5 SubmittersRCV000466045RCV000509834RCV000508294
NM_000059.4(BRCA2):c.5373A>G (p.Ile1791Met) SNV
Germline		 Chr13:32339728 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16614316 rs_1060502406

5 SubmittersRCV000458614RCV000775800RCV002509388
NM_000059.4(BRCA2):c.5687C>T (p.Ala1896Val) SNV
Germline		 Chr13:32340042 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614323 rs_730881539

3 SubmittersRCV000474407RCV000989042RCV003157526
NM_000059.4(BRCA2):c.5764G>T (p.Ala1922Ser) SNV
Germline		 Chr13:32340119 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16614327 rs_397507361

4 SubmittersRCV000476228RCV003157542RCV003477977
NM_000059.4(BRCA2):c.6044T>C (p.Leu2015Ser) SNV
Germline		 Chr13:32340399 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16614330 rs_587776468

5 SubmittersRCV000469766RCV000581542RCV004000819
NM_000059.4(BRCA2):c.6272G>C (p.Ser2091Thr) SNV
Germline		 Chr13:32340627 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614333 rs_1060502389

2 SubmittersRCV000467843RCV003157527
NM_000059.4(BRCA2):c.6557C>T (p.Ser2186Leu) SNV
Germline		 Chr13:32340912 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614339 rs_397507867

2 SubmittersRCV000475735RCV003157525
NM_000059.4(BRCA2):c.6837A>G (p.Leu2279=) SNV
Germline		 Chr13:32341192 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614341 rs_431825346

2 SubmittersRCV000458859RCV000563047
NM_000059.4(BRCA2):c.7805+11C>A SNV
Germline		 Chr13:32357940 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16614357 rs_1060504610

4 SubmittersRCV000586049RCV000581131RCV001088515
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu) SNV
Germline		 Chr13:32363371 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA16614371 rs_1060502432

6 SubmittersRCV000467822RCV000568974RCV001194439RCV003476087
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser) SNV
Germline		 Chr13:32363444 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA16614372 rs_56371528

8 SubmittersRCV000459448RCV000582320RCV003227754RCV004568040
NM_000059.4(BRCA2):c.9249A>G (p.Lys3083=) SNV
Germline		 Chr13:32380138 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16614392 rs_80359191

2 SubmittersRCV000472575RCV003477978
NM_000059.4(BRCA2):c.9284A>G (p.Asp3095Gly) SNV
Germline		 Chr13:32394716 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16614398 rs_1060502443

4 SubmittersRCV000461281RCV000757042RCV002374783
NM_000059.4(BRCA2):c.10124G>A (p.Ser3375Asn) SNV
Germline		 Chr13:32398637 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614409 rs_1060502452

3 SubmittersRCV000461534RCV000609346RCV002451113
NM_000059.4(BRCA2):c.10249T>C (p.Tyr3417His) SNV
Germline		 Chr13:32398762 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6941484 rs_535952730

6 SubmittersRCV000474923RCV000615202RCV000574730RCV001284407
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) SNV
Germline		 Chr15:90754895 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Bloom syndrome
Hereditary breast ovarian cancer syndrome
not specified
BLM-related disorder		 Criteria Provided
Conflicting Classifications
 CA7738414 rs_184657475

7 SubmittersRCV000566370RCV000590533RCV001080152RCV001030683RCV003151068RCV003899947
NM_007294.4(BRCA1):c.5566C>A (p.Pro1856Thr) SNV
Germline		 Chr17:43045704 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10590193 rs_80357274

3 SubmittersRCV000459949RCV001024281
NM_007294.4(BRCA1):c.5131A>C (p.Lys1711Gln) SNV
Germline		 Chr17:43063895 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10591282 rs_886040272

3 SubmittersRCV000463327RCV001078104RCV002348316
NM_007294.4(BRCA1):c.5101C>A (p.Leu1701Met) SNV
Germline		 Chr17:43063925 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10591328 rs_910555398

6 SubmittersRCV000469376RCV000586375RCV000775750RCV001072254
NM_007294.4(BRCA1):c.4894G>A (p.Val1632Met) SNV
Germline		 Chr17:43071020 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA053429 rs_770193975

4 SubmittersRCV000474239RCV000774938RCV001072799
NM_007294.4(BRCA1):c.4185+16G>C SNV
Germline		 Chr17:43090928 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16615352 rs_774646943

2 SubmittersRCV001193193RCV001426026
NM_007294.4(BRCA1):c.2930C>T (p.Pro977Leu) SNV
Germline		 Chr17:43092601 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA058213 rs_141465583

6 SubmittersRCV000470122RCV000575414RCV000770745RCV001353611RCV004000803
NM_007294.4(BRCA1):c.2414G>A (p.Cys805Tyr) SNV
Germline		 Chr17:43093117 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597181 rs_1060502352

3 SubmittersRCV000473712RCV003157519
NM_007294.4(BRCA1):c.2273T>A (p.Leu758Ter) SNV
Germline		 Chr17:43093258 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA10597455 rs_1060502334

2 SubmittersRCV000475494RCV000661023
NM_007294.4(BRCA1):c.2131A>C (p.Lys711Gln) SNV
Germline		 Chr17:43093400 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597744 rs_747046197

2 SubmittersRCV000466539RCV003157517
NM_007294.4(BRCA1):c.5193+3A>G SNV
Germline		 Chr17:43063330 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16615375 rs_1060502326

6 SubmittersRCV000474996RCV000562931RCV000781031RCV001076962RCV003477969
NM_007294.4(BRCA1):c.2048A>G (p.Lys683Arg) SNV
Germline		 Chr17:43093483 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10597908 rs_1060502357

6 SubmittersRCV000469824RCV000481276RCV000509924RCV004000805
NM_007294.4(BRCA1):c.1930T>A (p.Cys644Ser) SNV
Germline		 Chr17:43093601 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA057641 rs_753521391

5 SubmittersRCV000462698RCV000775172RCV001125930
NM_007294.4(BRCA1):c.5075-18G>A SNV
Germline		 Chr17:43063969 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16615377 rs_1060504564

3 SubmittersRCV000468806RCV000609893
NM_007294.4(BRCA1):c.1856A>G (p.His619Arg) SNV
Germline		 Chr17:43093675 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598309 rs_771890863

5 SubmittersRCV000470518RCV001186645
NM_007294.4(BRCA1):c.1054G>A (p.Glu352Lys) SNV
Germline		 Chr17:43094477 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10599953 rs_80357472

2 SubmittersRCV000465497RCV003157518
NM_007294.4(BRCA1):c.3734G>A (p.Ser1245Asn) SNV
Germline		 Chr17:43091797 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10594499 rs_1060502348

5 SubmittersRCV000475050RCV000775766RCV003238761
NM_007294.4(BRCA1):c.1008A>G (p.Thr336=) SNV
Germline		 Chr17:43094523 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA16615388 rs_1060504568

8 SubmittersRCV000457862RCV000506233RCV000565896RCV003478031RCV004002141
NM_007294.4(BRCA1):c.3629A>G (p.Glu1210Gly) SNV
Germline		 Chr17:43091902 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA501050 rs_1060502347

4 SubmittersRCV000475464RCV002508934RCV002451112
NM_007294.4(BRCA1):c.2909A>T (p.Lys970Ile) SNV
Germline		 Chr17:43092622 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10596173 rs_756559408

4 SubmittersRCV000468440RCV000580777RCV004000806
NM_007294.4(BRCA1):c.2867C>G (p.Ser956Cys) SNV
Germline		 Chr17:43092664 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596252 rs_1060502336

2 SubmittersRCV000465781RCV003157515
NM_007294.4(BRCA1):c.2609C>T (p.Ala870Val) SNV
Germline		 Chr17:43092922 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10596775 rs_1060502324

6 SubmittersRCV000460289RCV001770344RCV003157513RCV003444237
NM_007294.4(BRCA1):c.2491T>G (p.Tyr831Asp) SNV
Germline		 Chr17:43093040 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597016 rs_1060502350

4 SubmittersRCV000464267RCV000481004RCV001524346
NM_007294.4(BRCA1):c.2450G>T (p.Gly817Val) SNV
Germline		 Chr17:43093081 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597107 rs_1060502365

4 SubmittersRCV000459090RCV001015583
NM_007294.4(BRCA1):c.1929T>G (p.Ser643Arg) SNV
Germline		 Chr17:43093602 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598167 rs_1060502361

2 SubmittersRCV000459628RCV003157521
NM_007294.4(BRCA1):c.1021G>A (p.Asp341Asn) SNV
Germline		 Chr17:43094510 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10600018 rs_756987689

7 SubmittersRCV000461312RCV000758783RCV000989905RCV000775726
NM_007294.4(BRCA1):c.1012A>G (p.Lys338Glu) SNV
Germline		 Chr17:43094519 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10600036 rs_397508826

4 SubmittersRCV000465932RCV000586428RCV003157520
NM_007294.4(BRCA1):c.812T>C (p.Val271Ala) SNV
Germline		 Chr17:43094719 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10600457 rs_753099787

2 SubmittersRCV000473978RCV003157523
NM_007294.4(BRCA1):c.5482T>G (p.Cys1828Gly) SNV
Germline		 Chr17:43045788 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10590349 rs_1060502342

3 SubmittersRCV000463014RCV001076309RCV002348317
NM_007294.4(BRCA1):c.5153-8C>A SNV
Germline		 Chr17:43063381 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA16615652 rs_1060504570

4 SubmittersRCV000460376RCV000775723RCV001076103RCV003155197
NM_007294.4(BRCA1):c.4097-15T>C SNV
Germline		 Chr17:43091047 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16615665 rs_1060504586

2 SubmittersRCV000466928RCV000481417
NM_007294.4(BRCA1):c.4096+7G>A SNV
Germline		 Chr17:43091428 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10593750 rs_1060504565

2 SubmittersRCV000460246RCV002475915
NM_007294.4(BRCA1):c.3929C>T (p.Thr1310Ile) SNV
Germline		 Chr17:43091602 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA059114 rs_80357257

5 SubmittersRCV000467656RCV001021457RCV001778964
NM_007294.4(BRCA1):c.3793A>C (p.Asn1265His) SNV
Germline		 Chr17:43091738 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10594385 rs_1060502364

4 SubmittersRCV000475532RCV000775768
NM_007294.4(BRCA1):c.3583C>G (p.His1195Asp) SNV
Germline		 Chr17:43091948 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10594797 rs_876659903

2 SubmittersRCV000473102RCV003157512
NM_007294.4(BRCA1):c.1769G>A (p.Ser590Asn) SNV
Germline		 Chr17:43093762 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598488 rs_1060502349

3 SubmittersRCV000463610RCV001013085
NM_007294.4(BRCA1):c.1721T>C (p.Leu574Pro) SNV
Germline		 Chr17:43093810 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10598587 rs_1060502341

4 SubmittersRCV000456385RCV000569485RCV001283889
NM_007294.4(BRCA1):c.1706A>T (p.Asn569Ile) SNV
Germline		 Chr17:43093825 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598614 rs_1060502329

3 SubmittersRCV000471509RCV002402272
NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter) SNV
Germline		 Chr17:35101203 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16615706 rs_1060502959

7 SubmittersRCV000476191RCV000580855RCV001797727RCV002279232
NM_007294.4(BRCA1):c.247G>T (p.Val83Phe) SNV
Germline		 Chr17:43104922 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10601661 rs_1060502343

3 SubmittersRCV000473880RCV001072718RCV002451111
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter) SNV
Germline		 Chr17:35101301 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA501240 rs_750219200

10 SubmittersRCV000475620RCV000565505RCV000578790RCV003479126
NM_007294.4(BRCA1):c.121C>A (p.His41Asn) SNV
Germline		 Chr17:43115739 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10601917 rs_1060502353

4 SubmittersRCV000469043RCV000759492RCV001076999RCV002365639
NM_002878.4(RAD51D):c.80C>A (p.Thr27Lys) SNV
Germline		 Chr17:35119534 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16615737 rs_139642328

8 SubmittersRCV000473688RCV000568530RCV000781799RCV000709459
NM_007294.4(BRCA1):c.5259A>T (p.Arg1753Ser) SNV
Germline		 Chr17:43057070 Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 CA10591036 rs_771577266

2 SubmittersRCV000472087RCV001075941
NM_007294.4(BRCA1):c.5106A>G (p.Lys1702=) SNV
Germline		 Chr17:43063920 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16615748 rs_1060504574

5 SubmittersRCV000487079RCV001023552RCV001077594RCV001411236RCV003321624
NM_007294.4(BRCA1):c.4697C>A (p.Ser1566Tyr) SNV
Germline		 Chr17:43071217 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Familial cancer of breast
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA10592117 rs_1060502325

6 SubmittersRCV000473049RCV000662893RCV001022911RCV003607286RCV004554778
NM_007294.4(BRCA1):c.4635C>G (p.His1545Gln) SNV
Germline		 Chr17:43074371 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10592239 rs_373686790

2 SubmittersRCV000475347RCV001022819
NM_007294.4(BRCA1):c.4357+14G>T SNV
Germline		 Chr17:43082390 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA059953 rs_760989937

5 SubmittersRCV000590310RCV000580427RCV001088209RCV002465675RCV003493588
NM_007294.4(BRCA1):c.4028A>T (p.Asp1343Val) SNV
Germline		 Chr17:43091503 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA059047 rs_775339017

6 SubmittersRCV000467857RCV000510024RCV000588993RCV002222516
NM_007294.4(BRCA1):c.3992A>G (p.Gln1331Arg) SNV
Germline		 Chr17:43091539 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10593978 rs_1060502363

2 SubmittersRCV000467046RCV003157522
NM_007294.4(BRCA1):c.3580A>G (p.Thr1194Ala) SNV
Germline		 Chr17:43091951 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA059367 rs_369982706

3 SubmittersRCV000473570RCV002451110
NM_007294.4(BRCA1):c.3206A>T (p.Gln1069Leu) SNV
Germline		 Chr17:43092325 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595566 rs_879254151

3 SubmittersRCV000460339RCV002323725
NM_007294.4(BRCA1):c.2999A>G (p.Glu1000Gly) SNV
Germline		 Chr17:43092532 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10596001 rs_1060502330

4 SubmittersRCV000459678RCV001017868RCV003449138
NM_007294.4(BRCA1):c.2893C>G (p.Leu965Val) SNV
Germline		 Chr17:43092638 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10596205 rs_1060502344

4 SubmittersRCV000469264RCV001016835RCV001174558
NM_007294.4(BRCA1):c.1639A>C (p.Asn547His) SNV
Germline		 Chr17:43093892 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10598760 rs_1060502351

6 SubmittersRCV000456718RCV000510112RCV000590361RCV003316568
NM_007294.4(BRCA1):c.1638G>A (p.Met546Ile) SNV
Germline		 Chr17:43093893 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598763 rs_1060502340

2 SubmittersRCV000463931RCV003157516
NM_007294.4(BRCA1):c.1082C>T (p.Ser361Leu) SNV
Germline		 Chr17:43094449 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10599895 rs_397508833

2 SubmittersRCV000459861RCV003157514
NM_007294.4(BRCA1):c.135-3T>C SNV
Germline		 Chr17:43106536 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA053118 rs_759417413

9 SubmittersRCV000471854RCV000509758RCV000989913RCV001194432RCV003477972
NM_007294.4(BRCA1):c.81-13C>T SNV
Germline		 Chr17:43115792 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA059743 rs_56328013

5 SubmittersRCV000462493RCV000780996RCV001072428RCV001176120
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) SNV
Germline		 Chr22:28725260 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA16616343 rs_1060502688

8 SubmittersRCV000461191RCV000590326RCV001022201RCV002468941RCV003483625RCV003150220
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) SNV
Germline		 Chr22:28695800 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16616553 rs_200928781

9 SubmittersRCV000475251RCV000566309RCV001528284RCV003114586RCV003483626
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) SNV
Germline		 Chr17:43051086 Pathogenic Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA10590929 rs_863224765

11 SubmittersRCV000502156RCV001023895RCV001865421RCV001572739RCV000477771
NM_007294.4(BRCA1):c.2185G>T (p.Glu729Ter) SNV
Germline		 Chr17:43093346 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10597633 rs_876659852

3 SubmittersRCV000477778RCV000496237
NM_000251.3(MSH2):c.1315C>G (p.Pro439Ala) SNV
Germline		 Chr2:47445586 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome		 Criteria Provided
Conflicting Classifications
 CA16617576 rs_786203116

6 SubmittersRCV000487340RCV001010926RCV001030709RCV001851231RCV004003373
NM_000059.4(BRCA2):c.426-20T>G SNV
Germline		 Chr13:32326081 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619644 rs_1064795008

4 SubmittersRCV000484138RCV000775862RCV001269202RCV002525865
NM_000059.4(BRCA2):c.851G>A (p.Gly284Glu) SNV
Germline		 Chr13:32332329 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619651 rs_1064793865

5 SubmittersRCV000759673RCV001017940RCV003644988
NM_000059.4(BRCA2):c.1151C>G (p.Ser384Cys) SNV
Germline		 Chr13:32332629 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619653 rs_41293475

4 SubmittersRCV000484001RCV001069889RCV001788234RCV003157590
NM_000059.4(BRCA2):c.1322C>T (p.Thr441Ile) SNV
Germline		 Chr13:32332800 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619657 rs_1064793062

4 SubmittersRCV000483055RCV001193992RCV002525754RCV003157559
NM_000059.4(BRCA2):c.1490C>T (p.Ser497Leu) SNV
Germline		 Chr13:32332968 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619659 rs_1064794018

5 SubmittersRCV000486670RCV000773057RCV001050810
NM_000059.4(BRCA2):c.1499G>T (p.Gly500Val) SNV
Germline		 Chr13:32332977 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619660 rs_1064795525

4 SubmittersRCV000486849RCV001800701RCV003157587RCV003766701
NM_000059.4(BRCA2):c.1681G>C (p.Gly561Arg) SNV
Germline		 Chr13:32333159 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16619661 rs_80358455

6 SubmittersRCV000486839RCV000692840RCV002402375RCV003234559
NM_000059.4(BRCA2):c.1822G>A (p.Asp608Asn) SNV
Germline		 Chr13:32333300 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16619662 rs_1064794170

5 SubmittersRCV000563223RCV000637768RCV000758867
NM_000059.4(BRCA2):c.1860T>G (p.Phe620Leu) SNV
Germline		 Chr13:32333338 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619665 rs_1064793402

9 SubmittersRCV000548581RCV000758868RCV000775934
NM_000059.4(BRCA2):c.2315C>T (p.Thr772Ile) SNV
Germline		 Chr13:32336670 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619669 rs_1064794522

5 SubmittersRCV000479708RCV000580617RCV001321251
NM_000059.4(BRCA2):c.2333T>C (p.Val778Ala) SNV
Germline		 Chr13:32336688 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16619670 rs_1064793704

4 SubmittersRCV000480323RCV001214583RCV003157571RCV003479134
NM_000059.4(BRCA2):c.2383T>G (p.Ser795Ala) SNV
Germline		 Chr13:32336738 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619672 rs_878853563

6 SubmittersRCV000481432RCV000766376RCV001015353RCV001347000
NM_000059.4(BRCA2):c.2401A>G (p.Asn801Asp) SNV
Germline		 Chr13:32336756 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940604 rs_765279896

6 SubmittersRCV000479358RCV000580193RCV000989011RCV000801572
NM_000059.4(BRCA2):c.2502G>T (p.Leu834Phe) SNV
Germline		 Chr13:32336857 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619673 rs_1064794947

3 SubmittersRCV000486108RCV003157581RCV003644991
NM_000059.4(BRCA2):c.2665A>G (p.Asn889Asp) SNV
Germline		 Chr13:32337020 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619675 rs_1020818778

4 SubmittersRCV000478657RCV001856827RCV003157568
NM_000059.4(BRCA2):c.2915A>G (p.Lys972Arg) SNV
Germline		 Chr13:32337270 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619678 rs_1064794885

5 SubmittersRCV000483494RCV000528453RCV000564626
NM_000059.4(BRCA2):c.2963A>G (p.Asp988Gly) SNV
Germline		 Chr13:32337318 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619679 rs_876659509

4 SubmittersRCV000487113RCV001017688RCV001340301
NM_000059.4(BRCA2):c.3071T>A (p.Ile1024Asn) SNV
Germline		 Chr13:32337426 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940661 rs_764921920

6 SubmittersRCV000481872RCV000545081RCV002319505RCV003483635
NM_000059.4(BRCA2):c.3085A>C (p.Met1029Leu) SNV
Germline		 Chr13:32337440 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619683 rs_80358553

4 SubmittersRCV000485239RCV001210580RCV002323820
NM_000059.4(BRCA2):c.3109C>A (p.Gln1037Lys) SNV
Germline		 Chr13:32337464 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619684 rs_80358557

4 SubmittersRCV000480866RCV003157576RCV003644990
NM_000059.4(BRCA2):c.3154G>C (p.Ala1052Pro) SNV
Germline		 Chr13:32337509 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619686 rs_730881520

4 SubmittersRCV000478435RCV001824801RCV003157585RCV003530051
NM_000059.4(BRCA2):c.3161A>G (p.Asp1054Gly) SNV
Germline		 Chr13:32337516 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619687 rs_1064793624

4 SubmittersRCV000483194RCV001865436RCV002323818
NM_000059.4(BRCA2):c.3176T>G (p.Leu1059Arg) SNV
Germline		 Chr13:32337531 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16619689 rs_1064793927

6 SubmittersRCV000486653RCV000576066RCV000691591RCV002469170
NM_000059.4(BRCA2):c.3188A>C (p.Gln1063Pro) SNV
Germline		 Chr13:32337543 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16619690 rs_775030825

6 SubmittersRCV000637621RCV000775945RCV003221425RCV004002301
NM_000059.4(BRCA2):c.3238G>C (p.Asp1080His) SNV
Germline		 Chr13:32337593 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16619693 rs_1064794159

6 SubmittersRCV000481777RCV001019352RCV001225596RCV003155203
NM_000059.4(BRCA2):c.3242G>A (p.Cys1081Tyr) SNV
Germline		 Chr13:32337597 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16619694 rs_752871893

7 SubmittersRCV000482401RCV000579848RCV000812619RCV002265776
NM_000059.4(BRCA2):c.3852T>G (p.Ser1284Arg) SNV
Germline		 Chr13:32338207 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940729 rs_777895333

5 SubmittersRCV000479311RCV000570596RCV001217942
NM_000059.4(BRCA2):c.3994C>G (p.His1332Asp) SNV
Germline		 Chr13:32338349 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA16619701 rs_863224588

7 SubmittersRCV000588273RCV000775953RCV001244602RCV001357145
NM_000059.4(BRCA2):c.4105T>C (p.Ser1369Pro) SNV
Germline		 Chr13:32338460 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940747 rs_138567364

6 SubmittersRCV000483881RCV000565773RCV001043410RCV001731708RCV004002314
NM_000059.4(BRCA2):c.4254A>G (p.Ile1418Met) SNV
Germline		 Chr13:32338609 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619702 rs_1064793378

4 SubmittersRCV000485031RCV000804771RCV001526926RCV003157564
NM_000059.4(BRCA2):c.4296T>G (p.Ser1432Arg) SNV
Germline		 Chr13:32338651 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619704 rs_1064793065

4 SubmittersRCV000478821RCV001215412RCV002329138
NM_000059.4(BRCA2):c.4320A>C (p.Lys1440Asn) SNV
Germline		 Chr13:32338675 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940771 rs_769535925

8 SubmittersRCV000478901RCV000529148RCV001022289RCV001194413RCV004002281
NM_000059.4(BRCA2):c.4339G>A (p.Val1447Ile) SNV
Germline		 Chr13:32338694 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619706 rs_1064795076

4 SubmittersRCV000482796RCV003157584RCV003644992
NM_000059.4(BRCA2):c.4343A>T (p.Asn1448Ile) SNV
Germline		 Chr13:32338698 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940772 rs_762841458

5 SubmittersRCV000482410RCV001064567RCV003157560
NM_000059.4(BRCA2):c.4344T>G (p.Asn1448Lys) SNV
Germline		 Chr13:32338699 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16619707 rs_1064793724

7 SubmittersRCV000481338RCV000539583RCV001192534RCV002329146RCV004002291
NM_000059.4(BRCA2):c.4399C>T (p.His1467Tyr) SNV
Germline		 Chr13:32338754 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619708 rs_1064793495

5 SubmittersRCV000484223RCV001050664RCV001022418
NM_000059.4(BRCA2):c.5084A>T (p.Glu1695Val) SNV
Germline		 Chr13:32339439 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619717 rs_397507347

5 SubmittersRCV000480557RCV000569626RCV002525787
NM_000059.4(BRCA2):c.5110A>T (p.Arg1704Ter) SNV
Germline		 Chr13:32339465 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA16619718 rs_1064795652

5 SubmittersRCV000487145RCV000661851RCV001382436RCV002350070
NM_000059.4(BRCA2):c.5144T>C (p.Leu1715Ser) SNV
Germline		 Chr13:32339499 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16619719 rs_1064793634

8 SubmittersRCV000570188RCV000637698RCV000587158RCV000855638RCV004002298
NM_000059.4(BRCA2):c.5144T>G (p.Leu1715Trp) SNV
Germline		 Chr13:32339499 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619720 rs_1064793634

3 SubmittersRCV000486142RCV002526537RCV003157570
NM_000059.4(BRCA2):c.5386G>T (p.Asp1796Tyr) SNV
Germline		 Chr13:32339741 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA16619723 rs_1064793715

7 SubmittersRCV000484942RCV000555277RCV002350057RCV003483634RCV003607291
NM_000059.4(BRCA2):c.5632A>G (p.Asn1878Asp) SNV
Germline		 Chr13:32339987 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16619729 rs_397507358

6 SubmittersRCV000480280RCV000581757RCV000817294RCV003987559
NM_000059.4(BRCA2):c.5900A>G (p.Lys1967Arg) SNV
Germline		 Chr13:32340255 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16619732 rs_959089047

8 SubmittersRCV000487031RCV000563594RCV000553708RCV003493591
NM_000059.4(BRCA2):c.5970T>G (p.Asp1990Glu) SNV
Germline		 Chr13:32340325 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA16619734 rs_1064794160

5 SubmittersRCV000485637RCV000776240RCV001364757RCV003153661
NM_000059.4(BRCA2):c.5990G>A (p.Arg1997Lys) SNV
Germline		 Chr13:32340345 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619735 rs_1064793478

6 SubmittersRCV000586598RCV001302502RCV002356768
NM_000059.4(BRCA2):c.6109G>A (p.Glu2037Lys) SNV
Germline		 Chr13:32340464 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619736 rs_1064795651

4 SubmittersRCV000483807RCV000811660RCV003157589
NM_000059.4(BRCA2):c.6209A>G (p.Glu2070Gly) SNV
Germline		 Chr13:32340564 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16619737 rs_1064793809

6 SubmittersRCV000509660RCV000766430RCV001061542RCV004525943
NM_000059.4(BRCA2):c.6233G>T (p.Gly2078Val) SNV
Germline		 Chr13:32340588 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940938 rs_769883812

5 SubmittersRCV000484329RCV000821918RCV001184327
NM_000059.4(BRCA2):c.6273T>A (p.Ser2091Arg) SNV
Germline		 Chr13:32340628 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16619739 rs_966360777

6 SubmittersRCV000480122RCV001047459RCV002356763RCV003221424RCV004002239
NM_000059.4(BRCA2):c.6357C>G (p.Asn2119Lys) SNV
Germline		 Chr13:32340712 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16619741 rs_1064794110

5 SubmittersRCV000481129RCV000697738RCV001025168RCV004002317
NM_000059.4(BRCA2):c.6369A>C (p.Glu2123Asp) SNV
Germline		 Chr13:32340724 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619742 rs_1064793571

9 SubmittersRCV000478478RCV000509671RCV000624984RCV001207453
NM_000059.4(BRCA2):c.6430G>A (p.Glu2144Lys) SNV
Germline		 Chr13:32340785 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940953 rs_755967190

4 SubmittersRCV000484424RCV001057887RCV003157588
NM_000059.4(BRCA2):c.6452T>G (p.Val2151Gly) SNV
Germline		 Chr13:32340807 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16619746 rs_1064793743

7 SubmittersRCV000484418RCV000766361RCV000775947RCV003766668RCV004002295
NM_000059.4(BRCA2):c.6455C>T (p.Ser2152Phe) SNV
Germline		 Chr13:32340810 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16619747 rs_80358881

6 SubmittersRCV000480266RCV000510135RCV001851176RCV004003311
NM_000059.4(BRCA2):c.6485A>G (p.Lys2162Arg) SNV
Germline		 Chr13:32340840 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA6940960 rs_11571660

9 SubmittersRCV000478743RCV000772763RCV001203351RCV001770369RCV003321631
NM_000059.4(BRCA2):c.6743A>G (p.His2248Arg) SNV
Germline		 Chr13:32341098 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619752 rs_1064793995

4 SubmittersRCV000481203RCV000637686RCV001025604
NM_000059.4(BRCA2):c.7723A>G (p.Thr2575Ala) SNV
Germline		 Chr13:32357847 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619767 rs_1064793308

4 SubmittersRCV000482917RCV001255592RCV002402380RCV002526519
NM_000059.4(BRCA2):c.7787G>A (p.Gly2596Glu) SNV
Germline		 Chr13:32357911 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16619771 rs_1064795140

4 SubmittersRCV000485136RCV001045321RCV004023150
NM_000059.4(BRCA2):c.7874G>T (p.Arg2625Ile) SNV
Germline		 Chr13:32362591 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16619772 rs_864622552

5 SubmittersRCV000487418RCV000802875RCV002413321RCV004002293
NM_000059.4(BRCA2):c.7938C>G (p.Cys2646Trp) SNV
Germline		 Chr13:32362655 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619773 rs_1064794927

4 SubmittersRCV000485719RCV001026975RCV001234204
NM_000059.4(BRCA2):c.7976+2C>G SNV
Germline		 Chr13:32362695 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16619774 rs_886040943

6 SubmittersRCV000478296RCV000580796RCV001171448RCV001805095
NM_000059.4(BRCA2):c.8305G>C (p.Glu2769Gln) SNV
Germline		 Chr13:32363507 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16619778 rs_1064794185

4 SubmittersRCV000484683RCV000563964RCV001068956RCV004003313
NM_000059.4(BRCA2):c.8755-1G>C SNV
Germline		 Chr13:32379316 Pathogenic/Likely pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16619783 rs_81002812

5 SubmittersRCV000485251RCV000576379RCV000510081RCV001865423
NM_000059.4(BRCA2):c.8954-13T>C SNV
Germline		 Chr13:32379737 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16619786 rs_398122717

4 SubmittersRCV000480332RCV000775938RCV001584197RCV002056788
NM_000059.4(BRCA2):c.8963G>A (p.Ser2988Asn) SNV
Germline		 Chr13:32379759 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6941324 rs_778052683

5 SubmittersRCV000478758RCV000773156RCV001085361RCV001800700
NM_000059.4(BRCA2):c.9216G>A (p.Val3072=) SNV
Germline		 Chr13:32380105 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6941356 rs_773533016

3 SubmittersRCV000481965RCV000691331RCV001019009
NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro) SNV
Germline		 Chr13:32398595 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6941471 rs_751250810

10 SubmittersRCV000536779RCV000570247RCV001357415RCV001797731RCV001712440RCV003338602
NM_002878.4(RAD51D):c.2T>G (p.Met1Arg) SNV
Germline		 Chr17:35119612 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16620396 rs_1064794619

4 SubmittersRCV000481968RCV001865452RCV002436538RCV003482146
NM_007294.4(BRCA1):c.5531T>C (p.Leu1844Pro) SNV
Germline		 Chr17:43045739 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA055255 rs_80357323

5 SubmittersRCV000484935RCV001077564RCV001024239RCV001063794
NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr) SNV
Germline		 Chr17:43045748 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10590275 rs_80357368

5 SubmittersRCV000480419RCV000692105RCV000775939RCV001078024
NM_007294.4(BRCA1):c.5511G>C (p.Trp1837Cys) SNV
Germline		 Chr17:43045759 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10590294 rs_80356914

6 SubmittersRCV000483084RCV001184314RCV001078019RCV001254336
NM_007294.4(BRCA1):c.5175A>C (p.Glu1725Asp) SNV
Germline		 Chr17:43063351 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA10591194 rs_191373374

4 SubmittersRCV000479108RCV000705711RCV001077742RCV002509403
NM_007294.4(BRCA1):c.5137G>A (p.Val1713Ile) SNV
Germline		 Chr17:43063889 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA10591268 rs_1064793309

7 SubmittersRCV000484213RCV001077648RCV001228454RCV002350051RCV003153657
NM_007294.4(BRCA1):c.5018A>G (p.His1673Arg) SNV
Germline		 Chr17:43067664 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10591480 rs_1064793913

6 SubmittersRCV000481622RCV001023427RCV001072978RCV001851165
NM_007294.4(BRCA1):c.4910C>A (p.Pro1637Gln) SNV
Germline		 Chr17:43071004 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10591703 rs_80357048

4 SubmittersRCV000478837RCV001039099RCV001073141RCV002350073
NM_007294.4(BRCA1):c.4787C>A (p.Ser1596Ter) SNV
Germline		 Chr17:43071127 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10591942 rs_80357429

4 SubmittersRCV000486809RCV000509938RCV000661272RCV001045842
NM_007294.4(BRCA1):c.4726G>C (p.Glu1576Gln) SNV
Germline		 Chr17:43071188 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10592055 rs_1060502355

2 SubmittersRCV000487131RCV001851131
NM_007294.4(BRCA1):c.4683C>G (p.Thr1561=) SNV
Germline		 Chr17:43071231 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16620422 rs_878853265

3 SubmittersRCV000482214RCV000559495RCV002329148
NM_007294.4(BRCA1):c.4610A>G (p.Gln1537Arg) SNV
Germline		 Chr17:43074396 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10592292 rs_70953659

5 SubmittersRCV000484247RCV000637536RCV000773185RCV000766451
NM_007294.4(BRCA1):c.3974G>A (p.Arg1325Lys) SNV
Germline		 Chr17:43091557 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10594020 rs_921253348

6 SubmittersRCV000484697RCV000509912RCV000808684RCV003321630
NM_007294.4(BRCA1):c.3466G>A (p.Asp1156Asn) SNV
Germline		 Chr17:43092065 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10595051 rs_1064793302

5 SubmittersRCV000483179RCV000706950RCV003157563RCV004002255
NM_007294.4(BRCA1):c.3308G>A (p.Cys1103Tyr) SNV
Germline		 Chr17:43092223 Conflicting classifications of pathogenicity Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA057973 rs_80357135

7 SubmittersRCV000758809RCV001170596RCV001297544RCV002323819RCV004002287
NM_007294.4(BRCA1):c.3172A>G (p.Ile1058Val) SNV
Germline		 Chr17:43092359 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10595644 rs_1064795478

6 SubmittersRCV000479949RCV000571167RCV001212358RCV001770373
NM_007294.4(BRCA1):c.3120C>T (p.Ser1040=) SNV
Germline		 Chr17:43092411 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA16620430 rs_1064794877

4 SubmittersRCV000484877RCV002056791RCV002323829RCV004003342
NM_007294.4(BRCA1):c.2964A>G (p.Ser988=) SNV
Germline		 Chr17:43092567 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA16620432 rs_1064796061

6 SubmittersRCV000478297RCV001174661RCV001017690RCV002063812RCV004003390
NM_007294.4(BRCA1):c.2929C>T (p.Pro977Ser) SNV
Germline		 Chr17:43092602 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596134 rs_1064794043

4 SubmittersRCV000486609RCV001300935RCV002436534
NM_007294.4(BRCA1):c.2830T>A (p.Cys944Ser) SNV
Germline		 Chr17:43092701 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596330 rs_1064795603

5 SubmittersRCV000484974RCV000525415RCV000775950
NM_007294.4(BRCA1):c.2813C>T (p.Pro938Leu) SNV
Germline		 Chr17:43092718 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596364 rs_1064793999

4 SubmittersRCV000482849RCV000541701RCV001016662
NM_007294.4(BRCA1):c.2723A>G (p.Glu908Gly) SNV
Germline		 Chr17:43092808 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596547 rs_1064794969

3 SubmittersRCV000486026RCV001066861RCV003157582
NM_007294.4(BRCA1):c.2696T>G (p.Val899Gly) SNV
Germline		 Chr17:43092835 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596605 rs_1064794483

3 SubmittersRCV000481820RCV001851188RCV003157577
NM_007294.4(BRCA1):c.2689C>T (p.Pro897Ser) SNV
Germline		 Chr17:43092842 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596620 rs_770583134

4 SubmittersRCV000478436RCV002526556RCV003157574
NM_007294.4(BRCA1):c.2666C>A (p.Ser889Tyr) SNV
Germline		 Chr17:43092865 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596663 rs_769712441

4 SubmittersRCV000482278RCV001856845RCV003157578
NM_007294.4(BRCA1):c.2620A>C (p.Asn874His) SNV
Germline		 Chr17:43092911 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA10596757 rs_1064795862

9 SubmittersRCV000479303RCV000570820RCV000545763RCV004003380RCV003401547
NM_007294.4(BRCA1):c.2401T>C (p.Cys801Arg) SNV
Germline		 Chr17:43093130 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10597206 rs_1064793591

4 SubmittersRCV000479023RCV001015420RCV000794192
NM_007294.4(BRCA1):c.2266A>G (p.Arg756Gly) SNV
Germline		 Chr17:43093265 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10597467 rs_1064795091

4 SubmittersRCV000479150RCV000775002RCV001045834
NM_007294.4(BRCA1):c.1771A>G (p.Ile591Val) SNV
Germline		 Chr17:43093760 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA10598482 rs_1064795358

8 SubmittersRCV000482260RCV000821605RCV000766775RCV001013057RCV001353541
NM_007294.4(BRCA1):c.1757C>G (p.Pro586Arg) SNV
Germline		 Chr17:43093774 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10598514 rs_1064795270

4 SubmittersRCV000481843RCV000561830RCV003644993
NM_007294.4(BRCA1):c.1649A>G (p.Asn550Ser) SNV
Germline		 Chr17:43093882 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10598737 rs_1064795217

5 SubmittersRCV000484359RCV000637764RCV001012565RCV004003357
NM_007294.4(BRCA1):c.1580A>G (p.Lys527Arg) SNV
Germline		 Chr17:43093951 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA057390 rs_774959350

4 SubmittersRCV000486910RCV000695544RCV002402379
NM_007294.4(BRCA1):c.1554C>A (p.Ile518=) SNV
Germline		 Chr17:43093977 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA16620440 rs_1064794487

3 SubmittersRCV000483775RCV002395157RCV002525839
NM_007294.4(BRCA1):c.1501A>G (p.Lys501Glu) SNV
Germline		 Chr17:43094030 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10599044 rs_1064793883

3 SubmittersRCV000481108RCV001295053RCV003157573
NM_007294.4(BRCA1):c.1435G>A (p.Glu479Lys) SNV
Germline		 Chr17:43094096 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10599175 rs_1064794100

4 SubmittersRCV000480844RCV001011564RCV002525813
NM_007294.4(BRCA1):c.1423A>T (p.Ser475Cys) SNV
Germline		 Chr17:43094108 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10599200 rs_1064794047

4 SubmittersRCV000485151RCV000566059RCV000637344
NM_007294.4(BRCA1):c.1357G>C (p.Glu453Gln) SNV
Germline		 Chr17:43094174 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA057176 rs_768054411

6 SubmittersRCV000573359RCV000637435RCV000586479
NM_007294.4(BRCA1):c.1315G>T (p.Ala439Ser) SNV
Germline		 Chr17:43094216 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10599420 rs_1064794098

4 SubmittersRCV000481813RCV000690913RCV002383919
NM_007294.4(BRCA1):c.1270G>C (p.Gly424Arg) SNV
Germline		 Chr17:43094261 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10599516 rs_763051683

5 SubmittersRCV000482955RCV000561054RCV000690584RCV004023116
NM_007294.4(BRCA1):c.1244T>C (p.Val415Ala) SNV
Germline		 Chr17:43094287 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10599563 rs_1064796031

4 SubmittersRCV000480438RCV001318285RCV002395173
NM_007294.4(BRCA1):c.922A>G (p.Ser308Gly) SNV
Germline		 Chr17:43094609 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4		 Criteria Provided
Conflicting Classifications
 CA10600223 rs_55767801

7 SubmittersRCV000481247RCV000637630RCV000580929RCV000766450RCV002481506
NM_007294.4(BRCA1):c.861C>G (p.Asn287Lys) SNV
Germline		 Chr17:43094670 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10600357 rs_1064794692

4 SubmittersRCV000487264RCV001340141RCV002376875
NM_007294.4(BRCA1):c.672T>G (p.Ala224=) SNV
Germline		 Chr17:43094859 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16620444 rs_1064794486

4 SubmittersRCV000479791RCV000540457RCV001025590
NM_007294.4(BRCA1):c.486G>A (p.Val162=) SNV
Germline		 Chr17:43099836 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA056188 rs_769213707

3 SubmittersRCV000480995RCV001023176RCV001496772
NM_007294.4(BRCA1):c.100C>T (p.Pro34Ser) SNV
Germline		 Chr17:43115760 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10601951 rs_1064793357

4 SubmittersRCV000478465RCV000561610RCV001072472RCV003644987
NM_007294.4(BRCA1):c.80G>C (p.Cys27Ser) SNV
Germline		 Chr17:43124017 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10601997 rs_1064793052

3 SubmittersRCV000480934RCV001222249RCV001077722
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr) SNV
Germline		 Chr21:43060477 Pathogenic/Likely pathogenic Condition: not provided
Homocystinuria
Classic homocystinuria
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16621012 rs_757920190

4 SubmittersRCV000482454RCV003155205RCV003464007RCV003495133RCV004541519
NM_000059.4(BRCA2):c.2157T>A (p.Asn719Lys) SNV
Germline		 Chr13:32336512 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16621907 rs_1064797382

3 SubmittersRCV000487726RCV001851296RCV003157592
NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter) SNV
Germline		 Chr17:43104187 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10601391 rs_1085307902

6 SubmittersRCV000489726RCV000661001RCV000775957RCV001203814
NM_000059.4(BRCA2):c.7876T>C (p.Trp2626Arg) SNV
Germline		 Chr13:32362593 Pathogenic/Likely pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387747100 rs_1060502459

3 SubmittersRCV000493105RCV000704789RCV001026898
NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter) SNV
Germline		 Chr13:32332335 Pathogenic Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 CA387760554 rs_1131692035

5 SubmittersRCV000494717RCV000661899RCV001382893RCV002446965RCV003464065
NM_007294.4(BRCA1):c.541G>T (p.Glu181Ter) SNV
Germline		 Chr17:43099781 Pathogenic Breast neoplasm
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10601058 rs_1131692162

2 SubmittersRCV000494736RCV001856986
NM_032043.3(BRIP1):c.886G>T (p.Glu296Ter) SNV
Unknown		 Chr17:61808499 Pathogenic Hereditary breast ovarian cancer syndrome No Assertion Criteria Provided
 CA400484703 rs_876660125

1 SubmittersRCV000494920
NM_000059.4(BRCA2):c.1736T>G (p.Leu579Ter) SNV
Germline		 Chr13:32333214 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16021323 rs_1131692274

5 SubmittersRCV000496052RCV000637369RCV000581310
NM_000059.4(BRCA2):c.4574A>C (p.His1525Pro) SNV
Germline		 Chr13:32338929 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940795 rs_397507336

10 SubmittersRCV000496676RCV000571305RCV001800713RCV001357073RCV002250642RCV004003493
NM_000059.4(BRCA2):c.6562A>G (p.Lys2188Glu) SNV
Germline		 Chr13:32340917 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387789838 rs_1135401833

7 SubmittersRCV000496859RCV003155216RCV003483641RCV003157595
NM_007294.4(BRCA1):c.954T>A (p.His318Gln) SNV
Germline		 Chr17:43094577 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10600158 rs_1135401826

6 SubmittersRCV000496635RCV000770748RCV002258933
NM_007294.4(BRCA1):c.886A>G (p.Arg296Gly) SNV
Germline		 Chr17:43094645 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA056869 rs_748675395

7 SubmittersRCV000496938RCV000574826RCV000821194RCV001552518
NM_000059.4(BRCA2):c.2T>A (p.Met1Lys) SNV
Germline		 Chr13:32316462 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387752876 rs_80358547

3 SubmittersRCV000496424RCV001268575
NM_000059.4(BRCA2):c.67+2T>G SNV
Germline		 Chr13:32316529 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387753128 rs_81002885

4 SubmittersRCV000496567RCV001591133RCV002367672
NM_000059.4(BRCA2):c.1658T>G (p.Leu553Ter) SNV
Germline		 Chr13:32333136 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA387765024 rs_876659627

5 SubmittersRCV000496621RCV000507637RCV001012587RCV001548117
NM_000059.4(BRCA2):c.4022C>A (p.Ser1341Ter) SNV
Germline		 Chr13:32338377 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Reviewed By Expert Panel
 CA387779046 rs_1135401901

3 SubmittersRCV000496483RCV000661610
NM_000059.4(BRCA2):c.5087G>T (p.Gly1696Val) SNV
Germline		 Chr13:32339442 Pathogenic Hereditary breast ovarian cancer syndrome No Assertion Criteria Provided
 CA387784094 rs_1135401904

1 SubmittersRCV000496779
NM_000059.4(BRCA2):c.5609T>A (p.Phe1870Tyr) SNV
Germline		 Chr13:32339964 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387786082 rs_1135401908

4 SubmittersRCV000496547RCV001856991RCV002350105
NM_000059.4(BRCA2):c.7792G>T (p.Glu2598Ter) SNV
Germline		 Chr13:32357916 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Familial cancer of breast		 Reviewed By Expert Panel
 CA387746039 rs_1135401919

7 SubmittersRCV000496865RCV000573230RCV000661829RCV000657715RCV003476192
NM_000059.4(BRCA2):c.7980T>A (p.Tyr2660Ter) SNV
Germline		 Chr13:32363182 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Reviewed By Expert Panel
 CA387748495 rs_397507949

3 SubmittersRCV000496310RCV000661558
NM_000059.4(BRCA2):c.8245C>T (p.Gln2749Ter) SNV
Germline		 Chr13:32363447 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA387749914 rs_1135401925

4 SubmittersRCV000496216RCV000661758RCV004023322
NM_000059.4(BRCA2):c.8954-2A>C SNV
Germline		 Chr13:32379748 Likely pathogenic Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Single Submitter
 CA387757351 rs_1135401928

3 SubmittersRCV000496263RCV001353886
NM_007294.4(BRCA1):c.3998T>C (p.Val1333Ala) SNV
Germline		 Chr17:43091533 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10593965 rs_1135401872

6 SubmittersRCV000496832RCV000530741RCV000583038RCV003493604
NM_007294.4(BRCA1):c.3647T>A (p.Leu1216Ter) SNV
Germline		 Chr17:43091884 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder		 Reviewed By Expert Panel
 CA10594675 rs_397509091

5 SubmittersRCV000496320RCV000509775RCV000661180RCV004554791
NM_007294.4(BRCA1):c.3637G>T (p.Glu1213Ter) SNV
Germline		 Chr17:43091894 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA10594694 rs_1135401864

2 SubmittersRCV000496497RCV000661019
NM_007294.4(BRCA1):c.2934T>A (p.Tyr978Ter) SNV
Germline		 Chr17:43092597 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA10596127 rs_80357115

3 SubmittersRCV000496665RCV000661056
NM_007294.4(BRCA1):c.2911C>G (p.His971Asp) SNV
Germline		 Chr17:43092620 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10596171 rs_80357478

5 SubmittersRCV000496848RCV000566526RCV000700278RCV003316645
NM_007294.4(BRCA1):c.2255T>A (p.Leu752Ter) SNV
Germline		 Chr17:43093276 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA10597490 rs_1135401852

2 SubmittersRCV000496870RCV000661115
NM_007294.4(BRCA1):c.2038A>T (p.Lys680Ter) SNV
Germline		 Chr17:43093493 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA10597932 rs_1135401850

2 SubmittersRCV000496640RCV000661297
NM_007294.4(BRCA1):c.1387A>G (p.Lys463Glu) SNV
Germline		 Chr17:43094144 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10599270 rs_1135401844

5 SubmittersRCV000496213RCV000776208RCV001353394RCV001851365
NM_007294.4(BRCA1):c.886A>T (p.Arg296Ter) SNV
Germline		 Chr17:43094645 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA10600303 rs_748675395

2 SubmittersRCV000496403RCV000661318
NM_007294.4(BRCA1):c.800C>A (p.Ser267Ter) SNV
Germline		 Chr17:43094731 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA10600482 rs_80357392

2 SubmittersRCV000496658RCV000661053
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile) SNV
Germline		 Chr17:43124094 Pathogenic/Likely pathogenic not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602153 rs_80357475

6 SubmittersRCV000496941RCV000706864RCV000584713RCV000989918RCV001355558
NM_000059.4(BRCA2):c.1834G>A (p.Glu612Lys) SNV
Germline		 Chr13:32333312 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387766181 rs_1135401938

4 SubmittersRCV000496580RCV001524384RCV003645005
NM_000059.4(BRCA2):c.317-15A>G SNV
Germline		 Chr13:32325061 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA645372985 rs_1555280835

3 SubmittersRCV000501057RCV000776716RCV002060091
NM_000059.4(BRCA2):c.1501A>G (p.Ile501Val) SNV
Germline		 Chr13:32332979 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387764486 rs_1555281924

5 SubmittersRCV000503284RCV002524132RCV002508217RCV003157605
NM_000059.4(BRCA2):c.2033A>C (p.Asn678Thr) SNV
Germline		 Chr13:32336388 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387768887 rs_1555282412

5 SubmittersRCV000569537RCV001865589RCV003478067
NM_000059.4(BRCA2):c.2875G>A (p.Val959Ile) SNV
Germline		 Chr13:32337230 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387774046 rs_1555282921

5 SubmittersRCV000503350RCV000582365RCV001857061
NM_000059.4(BRCA2):c.3318C>G (p.Ser1106Arg) SNV
Germline		 Chr13:32337673 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387776227 rs_1298550035

7 SubmittersRCV000500392RCV000580879RCV001045201RCV002465693
NM_000059.4(BRCA2):c.3328G>T (p.Glu1110Ter) SNV
Germline		 Chr13:32337683 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Reviewed By Expert Panel
 CA387776265 rs_1555283173

2 SubmittersRCV000502627RCV000661412
NM_000059.4(BRCA2):c.4037C>A (p.Thr1346Asn) SNV
Germline		 Chr13:32338392 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387779081 rs_1555283519

4 SubmittersRCV000500883RCV000637490RCV002256321
NM_000059.4(BRCA2):c.4624G>A (p.Val1542Met) SNV
Germline		 Chr13:32338979 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA247508167 rs_28897729

8 SubmittersRCV000500406RCV000538825RCV000573422RCV001353720RCV003478069
NM_000059.4(BRCA2):c.4918C>T (p.His1640Tyr) SNV
Germline		 Chr13:32339273 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940826 rs_765892492

5 SubmittersRCV000503156RCV000772752RCV003645008
NM_000059.4(BRCA2):c.5033A>C (p.Lys1678Thr) SNV
Germline		 Chr13:32339388 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA247508914 rs_28897733

5 SubmittersRCV000501473RCV000548988RCV000564353
NM_000059.4(BRCA2):c.5261A>G (p.Asp1754Gly) SNV
Germline		 Chr13:32339616 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940861 rs_772772727

5 SubmittersRCV000499471RCV000510048RCV000637713
NM_000059.4(BRCA2):c.5347A>G (p.Lys1783Glu) SNV
Germline		 Chr13:32339702 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387785018 rs_1555284184

5 SubmittersRCV000500557RCV000541889RCV000985543RCV002350115
NM_000059.4(BRCA2):c.5947G>A (p.Gly1983Arg) SNV
Germline		 Chr13:32340302 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387787581 rs_1555284478

3 SubmittersRCV000503696RCV000794061RCV003157609
NM_000059.4(BRCA2):c.6083A>G (p.Glu2028Gly) SNV
Germline		 Chr13:32340438 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387788024 rs_1555284531

4 SubmittersRCV000504546RCV000565096RCV001851396
NM_000059.4(BRCA2):c.6315A>G (p.Ile2105Met) SNV
Germline		 Chr13:32340670 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940944 rs_398122552

7 SubmittersRCV000637801RCV000771444RCV000780023RCV002476000RCV004003517
NM_000059.4(BRCA2):c.6496G>C (p.Val2166Leu) SNV
Germline		 Chr13:32340851 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387789529 rs_750084851

4 SubmittersRCV000499853RCV000687551RCV000776708
NM_000059.4(BRCA2):c.6530T>A (p.Ile2177Asn) SNV
Germline		 Chr13:32340885 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060502462

2 SubmittersRCV002222212RCV003158944
NM_000059.4(BRCA2):c.6599T>C (p.Phe2200Ser) SNV
Germline		 Chr13:32340954 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387790079 rs_1372423132

5 SubmittersRCV000502259RCV000563833RCV000557523RCV004003518
NM_007294.4(BRCA1):c.5557T>A (p.Tyr1853Asn) SNV
Germline		 Chr17:43045713 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2050860958

4 SubmittersRCV001072339RCV001247281RCV001357015
NM_007294.4(BRCA1):c.5251C>G (p.Arg1751Gly) SNV
Germline		 Chr17:43057078 Likely pathogenic Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA10591045 rs_80357123

3 SubmittersRCV000502853RCV001075934RCV001379713
NM_007294.4(BRCA1):c.5060T>G (p.Val1687Gly) SNV
Germline		 Chr17:43067622 Likely pathogenic Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 CA10591398 rs_1555579627

3 SubmittersRCV000502014RCV001269393RCV001077504
NM_007294.4(BRCA1):c.4666C>T (p.Gln1556Ter) SNV
Germline		 Chr17:43074340 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Inherited breast cancer and ovarian cancer		 Reviewed By Expert Panel
 CA10592179 rs_1555581812

8 SubmittersRCV000501033RCV000661316RCV001182956RCV001271026RCV004584217
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) SNV
Germline		 Chr17:43074352 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Fanconi anemia, complementation group S
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10592205 rs_1265352633

10 SubmittersRCV000504104RCV000532651RCV000735520RCV000758836RCV000765359RCV000776618RCV003330731RCV004003514
NM_007294.4(BRCA1):c.4485-2A>T SNV
Germline		 Chr17:43074523 Likely pathogenic Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Single Submitter
 CA10592560 rs_80358054

2 SubmittersRCV000500292RCV001353851
NM_007294.4(BRCA1):c.4357+4T>C SNV
Germline		 Chr17:43082400 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA645373144 rs_1555583978

3 SubmittersRCV000504190RCV000570421RCV003766810
NM_007294.4(BRCA1):c.3809G>A (p.Cys1270Tyr) SNV
Germline		 Chr17:43091722 Conflicting classifications of pathogenicity Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10594351 rs_1207787135

4 SubmittersRCV000503189RCV000735460RCV003157603RCV003766809
NM_007294.4(BRCA1):c.3078T>G (p.Ile1026Met) SNV
Germline		 Chr17:43092453 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10595833 rs_1555588422

5 SubmittersRCV000501071RCV001018499RCV002527176
NM_007294.4(BRCA1):c.2762A>G (p.Gln921Arg) SNV
Germline		 Chr17:43092769 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596468 rs_1555588991

3 SubmittersRCV000501257RCV001057647RCV003157600
NM_007294.4(BRCA1):c.2074C>T (p.His692Tyr) SNV
Germline		 Chr17:43093457 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_545736576

6 SubmittersRCV000775171RCV001355290RCV001851395RCV004525947
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val) SNV
Germline		 Chr17:43094090 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA10599158 rs_1397842308

11 SubmittersRCV000501590RCV000555910RCV000575549RCV000735490RCV000989903RCV002263705RCV003607296
NM_007294.4(BRCA1):c.413T>C (p.Leu138Pro) SNV
Germline		 Chr17:43104150 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA055866 rs_200449040

5 SubmittersRCV000539830RCV000571695RCV001358114RCV003316646
NM_000059.4(BRCA2):c.-188C>T SNV
Germline		 Chr13:32315519 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA247478059 rs_556172218

3 SubmittersRCV000500828RCV001510598RCV002256322
NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=) SNV
Germline		 Chr13:32340778 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940952 rs_780721021

5 SubmittersRCV000502553RCV000812649RCV000985565RCV002367683
NM_000059.4(BRCA2):c.6734T>A (p.Leu2245Gln) SNV
Germline		 Chr13:32341089 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940979 rs_772795886

10 SubmittersRCV000504316RCV000509998RCV000798113RCV001591137RCV004003524
NM_007294.4(BRCA1):c.3745A>G (p.Thr1249Ala) SNV
Germline		 Chr17:43091786 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10594479 rs_1555587189

4 SubmittersRCV000502982RCV000821808RCV001526203
NM_007294.3(BRCA1):c.-125C>T SNV
Germline		 Chr17:43125376 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA290828330 rs_148196794

5 SubmittersRCV000504495RCV001122394RCV001517233RCV002257770
NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys) SNV
Germline		 Chr13:32362574 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387747060 rs_80359011

5 SubmittersRCV000574330RCV000664330RCV000692296
NM_000059.4(BRCA2):c.-40+7G>T SNV
Germline		 Chr13:32315674 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1		 Criteria Provided
Conflicting Classifications
 CA645509353 rs_1555279969

4 SubmittersRCV000508126RCV000581674RCV000868731RCV001113449RCV001113448
NM_000059.4(BRCA2):c.-39-2A>G SNV
Germline		 Chr13:32316420 Pathogenic/Likely pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA645509354 rs_1555280053

7 SubmittersRCV000507187RCV000624975RCV000687385RCV003372734RCV003464087
NM_000059.4(BRCA2):c.63A>G (p.Lys21=) SNV
Germline		 Chr13:32316523 Conflicting classifications of pathogenicity not specified
Breast neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA483272670 rs_1280004443

5 SubmittersRCV000506652RCV000677832RCV001190707RCV001449216
NM_000059.4(BRCA2):c.475G>C (p.Val159Leu) SNV
Germline		 Chr13:32326150 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387757259 rs_80358702

2 SubmittersRCV000507908RCV003530059
NM_000059.4(BRCA2):c.901G>A (p.Asp301Asn) SNV
Germline		 Chr13:32332379 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387760679 rs_1555281626

5 SubmittersRCV000508473RCV000691294RCV002376934
NM_000059.4(BRCA2):c.1317T>G (p.Phe439Leu) SNV
Germline		 Chr13:32332795 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387762641 rs_1555281834

4 SubmittersRCV000506210RCV001298558RCV003157617
NM_000059.4(BRCA2):c.1368G>C (p.Glu456Asp) SNV
Germline		 Chr13:32332846 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387762904 rs_747489126

5 SubmittersRCV000508440RCV001343802RCV002383977RCV003493611
NM_000059.4(BRCA2):c.1616G>T (p.Gly539Val) SNV
Germline		 Chr13:32333094 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387764890 rs_1555281985

3 SubmittersRCV000506682RCV003157618RCV003645010
NM_000059.4(BRCA2):c.2749G>A (p.Val917Ile) SNV
Germline		 Chr13:32337104 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387773636 rs_1555282822

5 SubmittersRCV000508368RCV000816970RCV002438230
NM_000059.4(BRCA2):c.2791G>A (p.Gly931Arg) SNV
Germline		 Chr13:32337146 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA387773728 rs_1555282848

5 SubmittersRCV000505999RCV000637737RCV001016616RCV004535631
NM_000059.4(BRCA2):c.2860G>A (p.Glu954Lys) SNV
Germline		 Chr13:32337215 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387773971 rs_1555282911

3 SubmittersRCV000507990RCV003157623RCV003645011
NM_000059.4(BRCA2):c.2907A>G (p.Gln969=) SNV
Germline		 Chr13:32337262 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA483437187 rs_1555282935

3 SubmittersRCV000507133RCV002056898RCV004023416
NM_000059.4(BRCA2):c.2942A>C (p.Lys981Thr) SNV
Germline		 Chr13:32337297 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387774324 rs_398122757

3 SubmittersRCV000507487RCV001857247RCV003157624
NM_000059.4(BRCA2):c.3008A>G (p.His1003Arg) SNV
Germline		 Chr13:32337363 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387774719 rs_1555283008

4 SubmittersRCV000506689RCV000572549RCV003645012
NM_000059.4(BRCA2):c.3016G>A (p.Gly1006Arg) SNV
Germline		 Chr13:32337371 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387774800 rs_886038083

3 SubmittersRCV000507608RCV003157625RCV003530058
NM_000059.4(BRCA2):c.3655T>G (p.Phe1219Val) SNV
Germline		 Chr13:32338010 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940713 rs_80358610

6 SubmittersRCV000506626RCV000581561RCV000702274RCV004003537
NM_000059.4(BRCA2):c.3776G>A (p.Ser1259Asn) SNV
Germline		 Chr13:32338131 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940725 rs_762488820

5 SubmittersRCV000700054RCV000758886RCV001021108RCV004003538
NM_000059.4(BRCA2):c.3826G>A (p.Glu1276Lys) SNV
Germline		 Chr13:32338181 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA387778506 rs_878853575

8 SubmittersRCV000506737RCV000546808RCV000563847RCV004535632
NM_000059.4(BRCA2):c.4493G>A (p.Gly1498Asp) SNV
Germline		 Chr13:32338848 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387781553 rs_1555283809

3 SubmittersRCV000506282RCV001217330RCV003157627
NM_000059.4(BRCA2):c.4985C>T (p.Ser1662Leu) SNV
Germline		 Chr13:32339340 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387783879 rs_886040559

5 SubmittersRCV000506708RCV000581612RCV001857249
NM_000059.4(BRCA2):c.5189A>G (p.Asn1730Ser) SNV
Germline		 Chr13:32339544 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940853 rs_766080044

4 SubmittersRCV000508199RCV000554468RCV001188185
NM_000059.4(BRCA2):c.5625G>T (p.Lys1875Asn) SNV
Germline		 Chr13:32339980 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387786114 rs_1316343192

7 SubmittersRCV000507214RCV000550120RCV000776720RCV001264547
NM_000059.4(BRCA2):c.5970T>C (p.Asp1990=) SNV
Germline		 Chr13:32340325 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA483438945 rs_1064794160

4 SubmittersRCV000506246RCV000566634RCV000927820RCV004003539
NM_000059.4(BRCA2):c.6060A>G (p.Glu2020=) SNV
Germline		 Chr13:32340415 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA483439043 rs_1555284516

3 SubmittersRCV000506349RCV001447306RCV003478074
NM_000059.4(BRCA2):c.6151A>G (p.Asn2051Asp) SNV
Germline		 Chr13:32340506 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387788283 rs_1555284569

3 SubmittersRCV000508232RCV000637423RCV003157629
NM_000059.4(BRCA2):c.6222C>G (p.His2074Gln) SNV
Germline		 Chr13:32340577 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387788874 rs_1555284601

6 SubmittersRCV000506922RCV000543074RCV001025025
NM_000059.4(BRCA2):c.6832A>G (p.Ile2278Val) SNV
Germline		 Chr13:32341187 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940990 rs_772645059

5 SubmittersRCV000508359RCV001025708RCV001347217
NM_000059.4(BRCA2):c.7047T>C (p.Phe2349=) SNV
Germline		 Chr13:32354900 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA483439344 rs_1555285985

2 SubmittersRCV000508119RCV002060164
NM_000059.4(BRCA2):c.7935A>G (p.Arg2645=) SNV
Germline		 Chr13:32362652 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA483260997 rs_1283509388

3 SubmittersRCV000507047RCV000563247RCV000821252
NM_000059.4(BRCA2):c.7977-2A>G SNV
Germline		 Chr13:32363177 Pathogenic/Likely pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387748410 rs_276174899

4 SubmittersRCV000507983RCV002527340RCV003464088
NM_000059.4(BRCA2):c.8050A>G (p.Lys2684Glu) SNV
Germline		 Chr13:32363252 Conflicting classifications of pathogenicity not specified
Infiltrating duct carcinoma of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387749060 rs_1289414853

5 SubmittersRCV000508463RCV000677840RCV000564690RCV001371534RCV004568648
NM_000059.4(BRCA2):c.9256+2T>C SNV
Germline		 Chr13:32380147 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387758745 rs_1555288591

3 SubmittersRCV000507805RCV000584001RCV000637499
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro) SNV
Germline		 Chr13:32394796 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387761167 rs_587782313

4 SubmittersRCV000507354RCV000581025RCV001865647
NM_007294.4(BRCA1):c.5333-7A>G SNV
Germline		 Chr17:43049201 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA054601 rs_538969920

5 SubmittersRCV000507495RCV001073081RCV000774927RCV001591153RCV002060163
NM_007294.4(BRCA1):c.5332+5G>A SNV
Germline		 Chr17:43051058 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA645509525 rs_1555575663

4 SubmittersRCV000506585RCV001072714RCV001232263RCV002350124
NM_007294.4(BRCA1):c.5282T>G (p.Phe1761Cys) SNV
Germline		 Chr17:43051113 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10590980 rs_80356905

3 SubmittersRCV000508677RCV001076012RCV001254335
NM_007294.4(BRCA1):c.4508C>G (p.Ser1503Ter) SNV
Germline		 Chr17:43074498 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10592512 rs_80357437

5 SubmittersRCV000508623RCV000661371RCV000698399
NM_007294.4(BRCA1):c.3938A>G (p.Gln1313Arg) SNV
Germline		 Chr17:43091593 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA059105 rs_765729710

6 SubmittersRCV000707493RCV000759530RCV001524538
NM_007294.4(BRCA1):c.2809A>T (p.Lys937Ter) SNV
Germline		 Chr17:43092722 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10596375 rs_1555588915

4 SubmittersRCV000506940RCV000661051RCV002438229RCV002527338
NM_007294.4(BRCA1):c.2339A>G (p.Gln780Arg) SNV
Germline		 Chr17:43093192 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10597329 rs_1410232200

6 SubmittersRCV000507027RCV000559783RCV000567591RCV004003536
NM_007294.4(BRCA1):c.2173A>G (p.Ser725Gly) SNV
Germline		 Chr17:43093358 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597658 rs_1555590290

4 SubmittersRCV000508351RCV001051454RCV002431463
NM_007294.4(BRCA1):c.2072G>C (p.Arg691Thr) SNV
Germline		 Chr17:43093459 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597858 rs_1555590574

3 SubmittersRCV000507364RCV000698237RCV003157612
NM_007294.4(BRCA1):c.1603G>A (p.Gly535Arg) SNV
Germline		 Chr17:43093928 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10598836 rs_1555591488

4 SubmittersRCV000559550RCV003157611RCV003478072
NM_007294.4(BRCA1):c.1560A>G (p.Lys520=) SNV
Germline		 Chr17:43093971 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA500233423 rs_1555591570

3 SubmittersRCV000506218RCV001012181RCV002056896
NM_007294.4(BRCA1):c.1502A>C (p.Lys501Thr) SNV
Germline		 Chr17:43094029 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10599042 rs_113656989

5 SubmittersRCV000506462RCV001857246RCV002395219RCV004003535
NM_007294.4(BRCA1):c.594-6C>T SNV
Germline		 Chr17:43095928 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA645509522 rs_1555593629

2 SubmittersRCV000506325RCV001484779
NM_007294.4(BRCA1):c.453T>C (p.Ser151=) SNV
Germline		 Chr17:43099869 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA500124691 rs_1555594986

3 SubmittersRCV000508634RCV001022672RCV002527375
NM_007294.4(BRCA1):c.81-5G>A SNV
Germline		 Chr17:43115784 Conflicting classifications of pathogenicity not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA645509507 rs_1555599296

6 SubmittersRCV000507798RCV001076942RCV000575672RCV002056897
NM_000546.6(TP53):c.375+2T>C SNV
Germline		 Chr17:7675992 Pathogenic/Likely pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397844132 rs_1555526469

5 SubmittersRCV000505908RCV000586625RCV000692558RCV002289693RCV002289694
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) SNV
Germline		 Chr22:28725270 Pathogenic Condition: not provided
Familial cancer of breast
Li-Fraumeni syndrome 2
Familial cancer of breast
Malignant tumor of prostate
Bone osteosarcoma
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA411107953 rs_200917541

9 SubmittersRCV000507030RCV000541871RCV000763476RCV001375597RCV000572280RCV003150248
NM_000059.4(BRCA2):c.9501+8T>C SNV
Germline		 Chr13:32394941 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA645509343 rs_1555289625

2 SubmittersRCV000506319RCV003645013
NM_007294.4(BRCA1):c.2403T>G (p.Cys801Trp) SNV
Germline		 Chr17:43093128 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA058591 rs_80357381

5 SubmittersRCV000507842RCV000575132RCV003441901RCV003114637
NM_000059.4(BRCA2):c.1381G>T (p.Glu461Ter) SNV
Germline		 Chr13:32332859 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Reviewed By Expert Panel
 CA387762984 rs_587782159

2 SubmittersRCV000506635RCV000661624
NM_000059.4(BRCA2):c.277T>C (p.Ser93Pro) SNV
Germline		 Chr13:32319286 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940336 rs_776730435

3 SubmittersRCV000509719RCV001061330
NM_000059.4(BRCA2):c.862C>T (p.Pro288Ser) SNV
Germline		 Chr13:32332340 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387760575 rs_1464889530

4 SubmittersRCV000509810RCV001857313
NM_000059.4(BRCA2):c.986G>C (p.Arg329Thr) SNV
Germline		 Chr13:32332464 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387760972 rs_1555281666

3 SubmittersRCV000509620RCV003645021
NM_000059.4(BRCA2):c.1012G>T (p.Ala338Ser) SNV
Germline		 Chr13:32332490 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387761095 rs_80358396

3 SubmittersRCV000510077RCV002524954
NM_000059.4(BRCA2):c.1179T>A (p.Cys393Ter) SNV
Germline		 Chr13:32332657 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Reviewed By Expert Panel
 CA387761977 rs_786201237

3 SubmittersRCV000509613RCV000587625RCV000661588
NM_000059.4(BRCA2):c.1219C>G (p.Gln407Glu) SNV
Germline		 Chr13:32332697 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940499 rs_781079248

7 SubmittersRCV000510003RCV000781104RCV001355771RCV001857301
NM_000059.4(BRCA2):c.1267A>G (p.Ile423Val) SNV
Germline		 Chr13:32332745 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA387762358 rs_1555281802

4 SubmittersRCV000509782RCV001857310RCV003150250
NM_000059.4(BRCA2):c.1292C>A (p.Thr431Lys) SNV
Germline		 Chr13:32332770 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387762486 rs_876660828

3 SubmittersRCV000510006RCV002524950
NM_000059.4(BRCA2):c.1339C>T (p.Pro447Ser) SNV
Germline		 Chr13:32332817 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387762726 rs_1555281846

3 SubmittersRCV000509862RCV001235508
NM_000059.4(BRCA2):c.1480G>A (p.Val494Met) SNV
Germline		 Chr13:32332958 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387764420 rs_1555281919

5 SubmittersRCV000509708RCV000770712RCV001323480RCV004525952
NM_000059.4(BRCA2):c.1652A>G (p.Asp551Gly) SNV
Germline		 Chr13:32333130 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387765005 rs_1555282001

5 SubmittersRCV000509898RCV000759579RCV001865677
NM_000059.4(BRCA2):c.1733G>T (p.Gly578Val) SNV
Germline		 Chr13:32333211 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387765404 rs_398122730

3 SubmittersRCV000509702RCV001857309
NM_000059.4(BRCA2):c.2125C>A (p.Leu709Met) SNV
Germline		 Chr13:32336480 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387770053 rs_80358489

3 SubmittersRCV000509608RCV001208233
NM_000059.4(BRCA2):c.2418T>A (p.Asp806Glu) SNV
Germline		 Chr13:32336773 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387772078 rs_1131692107

3 SubmittersRCV000510100RCV003645017
NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr) SNV
Germline		 Chr13:32336799 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387772239 rs_1303254121

10 SubmittersRCV000509649RCV000589134RCV000637404RCV001355590RCV001821426RCV002250647RCV004003567
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter) SNV
Germline		 Chr13:32336936 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Gastric cancer		 Reviewed By Expert Panel
 CA387772589 rs_773356478

8 SubmittersRCV000509677RCV000588708RCV000661552RCV003159650
NM_000059.4(BRCA2):c.2597A>T (p.Glu866Val) SNV
Germline		 Chr13:32336952 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387772624 rs_1555282752

4 SubmittersRCV000510004RCV003645020
NM_000059.4(BRCA2):c.2666A>G (p.Asn889Ser) SNV
Germline		 Chr13:32337021 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387773363 rs_1555282782

5 SubmittersRCV000509614RCV000637362RCV004003579
NM_000059.4(BRCA2):c.2744C>T (p.Thr915Ile) SNV
Germline		 Chr13:32337099 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387773628 rs_786202795

6 SubmittersRCV000509602RCV000637429RCV001284081RCV004003574
NM_000059.4(BRCA2):c.2755G>C (p.Glu919Gln) SNV
Germline		 Chr13:32337110 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387773650 rs_431825298

3 SubmittersRCV000510037RCV001065203
NM_000059.4(BRCA2):c.3146A>T (p.Asn1049Ile) SNV
Germline		 Chr13:32337501 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387775759 rs_1555283064

3 SubmittersRCV000510092RCV001857305
NM_000059.4(BRCA2):c.3286G>C (p.Asp1096His) SNV
Germline		 Chr13:32337641 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387776112 rs_876660870

3 SubmittersRCV000509961RCV001302775
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter) SNV
Germline		 Chr13:32337791 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA387776599 rs_1237049560

5 SubmittersRCV000509826RCV000661493RCV000780006
NM_000059.4(BRCA2):c.3464C>G (p.Thr1155Ser) SNV
Germline		 Chr13:32337819 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387776761 rs_1406283407

4 SubmittersRCV000509891RCV001043039
NM_000059.4(BRCA2):c.3489T>A (p.Asp1163Glu) SNV
Germline		 Chr13:32337844 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387776904 rs_1555283263

3 SubmittersRCV000509700RCV001865671
NM_000059.4(BRCA2):c.3640G>A (p.Val1214Met) SNV
Germline		 Chr13:32337995 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA247505516 rs_1015087797

4 SubmittersRCV000510016RCV000637555RCV001255569
NM_000059.4(BRCA2):c.4133C>T (p.Thr1378Ile) SNV
Germline		 Chr13:32338488 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387779384 rs_945880747

4 SubmittersRCV000509798RCV003530061
NM_000059.4(BRCA2):c.4156G>T (p.Asp1386Tyr) SNV
Germline		 Chr13:32338511 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387780018 rs_1555283600

3 SubmittersRCV000509929RCV001218365
NM_000059.4(BRCA2):c.4307T>C (p.Ile1436Thr) SNV
Germline		 Chr13:32338662 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6940769 rs_746472081

5 SubmittersRCV000509985RCV000540953RCV003321639
NM_000059.4(BRCA2):c.4403C>G (p.Ser1468Cys) SNV
Germline		 Chr13:32338758 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387781148 rs_1555283769

5 SubmittersRCV000509908RCV000637582RCV001549721
NM_000059.4(BRCA2):c.4555C>G (p.Pro1519Ala) SNV
Germline		 Chr13:32338910 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387781811 rs_1555283843

5 SubmittersRCV000510110RCV000985529RCV000817797
NM_000059.4(BRCA2):c.4593A>C (p.Lys1531Asn) SNV
Germline		 Chr13:32338948 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387781943 rs_386833397

3 SubmittersRCV000509691RCV000792316
NM_000059.4(BRCA2):c.4930G>C (p.Glu1644Gln) SNV
Germline		 Chr13:32339285 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387783657 rs_1555283989

4 SubmittersRCV000509788RCV001062161
NM_000059.4(BRCA2):c.5017A>C (p.Thr1673Pro) SNV
Germline		 Chr13:32339372 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387783956 rs_746274489

3 SubmittersRCV000509933RCV001299174
NM_000059.4(BRCA2):c.5375C>A (p.Ser1792Tyr) SNV
Germline		 Chr13:32339730 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387785166 rs_1555284200

3 SubmittersRCV000509849RCV002527392
NM_000059.4(BRCA2):c.5545G>A (p.Gly1849Ser) SNV
Germline		 Chr13:32339900 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387785944 rs_1555284257

3 SubmittersRCV000510089RCV001857303
NM_000059.4(BRCA2):c.5602G>A (p.Asp1868Asn) SNV
Germline		 Chr13:32339957 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387786063 rs_80358781

6 SubmittersRCV000509970RCV000692500RCV001113817RCV001113818
NM_000059.4(BRCA2):c.5605A>C (p.Ser1869Arg) SNV
Germline		 Chr13:32339960 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387786070 rs_876659256

3 SubmittersRCV000509694RCV002524952
NM_000059.4(BRCA2):c.5610C>G (p.Phe1870Leu) SNV
Germline		 Chr13:32339965 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387786084 rs_1060504598

4 SubmittersRCV000510119RCV002222187
NM_000059.4(BRCA2):c.5671G>C (p.Ala1891Pro) SNV
Germline		 Chr13:32340026 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387786203 rs_587782644

4 SubmittersRCV000509858RCV001857300
NM_000059.4(BRCA2):c.5708T>C (p.Ile1903Thr) SNV
Germline		 Chr13:32340063 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA247511407 rs_149474191

4 SubmittersRCV000509850RCV001194025RCV001342695
NM_000059.4(BRCA2):c.6210A>T (p.Glu2070Asp) SNV
Germline		 Chr13:32340565 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387788854 rs_1555284596

7 SubmittersRCV000509632RCV001192503RCV001294765RCV001755756
NM_000059.4(BRCA2):c.6463C>G (p.Leu2155Val) SNV
Germline		 Chr13:32340818 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387789372 rs_775035051

5 SubmittersRCV000510026RCV000701295RCV002274048
NM_000059.4(BRCA2):c.6476A>C (p.Gln2159Pro) SNV
Germline		 Chr13:32340831 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940959 rs_763486267

3 SubmittersRCV000510013RCV002304211
NM_000059.4(BRCA2):c.6586A>G (p.Lys2196Glu) SNV
Germline		 Chr13:32340941 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387789988 rs_398122561

5 SubmittersRCV000509744RCV001857312RCV003316661
NM_000059.4(BRCA2):c.6752A>G (p.His2251Arg) SNV
Germline		 Chr13:32341107 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387791145 rs_1555284844

4 SubmittersRCV000510065RCV001775836RCV001857311
NM_000059.4(BRCA2):c.7115C>A (p.Ser2372Ter) SNV
Germline		 Chr13:32354968 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA387738655 rs_80358943

5 SubmittersRCV000509899RCV000657570RCV000661838RCV001865678
NM_000059.4(BRCA2):c.7141C>G (p.Pro2381Ala) SNV
Germline		 Chr13:32354994 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA6941062 rs_777305503

6 SubmittersRCV000510075RCV000588094RCV000704526RCV004568654
NM_000059.4(BRCA2):c.7552C>G (p.Leu2518Val) SNV
Germline		 Chr13:32356544 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387743693 rs_1555286279

2 SubmittersRCV000509814RCV001857302
NM_000059.4(BRCA2):c.7765C>T (p.Pro2589Ser) SNV
Germline		 Chr13:32357889 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387745881 rs_753047043

4 SubmittersRCV000510040RCV000540925RCV003493614
NM_000059.4(BRCA2):c.7926T>G (p.Phe2642Leu) SNV
Germline		 Chr13:32362643 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387747199 rs_1555286858

3 SubmittersRCV000510022RCV000759663RCV001346282
NM_000059.4(BRCA2):c.7970A>C (p.Lys2657Thr) SNV
Germline		 Chr13:32362687 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387747333 rs_1555286874

2 SubmittersRCV000509666RCV001296961
NM_000059.4(BRCA2):c.8045C>T (p.Ala2682Val) SNV
Germline		 Chr13:32363247 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA6941183 rs_773506092

6 SubmittersRCV000510079RCV001357767RCV001857307RCV002476021RCV003464098
NM_000059.4(BRCA2):c.8206C>T (p.Leu2736Phe) SNV
Germline		 Chr13:32363408 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387749757 rs_1555287042

4 SubmittersRCV000510051RCV001171397RCV002524951RCV003476207
NM_000059.4(BRCA2):c.8230A>G (p.Arg2744Gly) SNV
Germline		 Chr13:32363432 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387749854 rs_1555287055

3 SubmittersRCV000509860RCV000536936RCV004003573
NM_000059.4(BRCA2):c.8392C>T (p.Pro2798Ser) SNV
Germline		 Chr13:32370462 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6941226 rs_750640009

2 SubmittersRCV000509718RCV003645018
NM_000059.4(BRCA2):c.8497A>T (p.Lys2833Ter) SNV
Germline		 Chr13:32370965 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA387752678 rs_1555287732

3 SubmittersRCV000510031RCV000661553RCV001857304
NM_000059.4(BRCA2):c.9998T>C (p.Leu3333Pro) SNV
Germline		 Chr13:32398511 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387767656 rs_1555290016

5 SubmittersRCV000509922RCV002527394RCV003464100RCV004003580
NM_000059.4(BRCA2):c.10238C>A (p.Thr3413Lys) SNV
Germline		 Chr13:32398751 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387768618 rs_730881584

4 SubmittersRCV000509846RCV000698928RCV003389648
NM_007294.4(BRCA1):c.4949T>C (p.Met1650Thr) SNV
Germline		 Chr17:43070965 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA053470 rs_778487856

4 SubmittersRCV000510095RCV001211494RCV001072873
NM_007294.4(BRCA1):c.4676-1G>C SNV
Germline		 Chr17:43071239 Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10592156 rs_80358008

6 SubmittersRCV000509618RCV000551481RCV001692164RCV003476205
NM_007294.4(BRCA1):c.4088C>A (p.Ser1363Ter) SNV
Germline		 Chr17:43091443 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10593781 rs_398122680

4 SubmittersRCV000510005RCV000660912RCV001234780
NM_007294.4(BRCA1):c.4020G>T (p.Leu1340Phe) SNV
Germline		 Chr17:43091511 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10593918 rs_1555586637

3 SubmittersRCV000510084RCV002524948
NM_007294.4(BRCA1):c.3901A>T (p.Ser1301Cys) SNV
Germline		 Chr17:43091630 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10594162 rs_786203580

4 SubmittersRCV000509819RCV000548325
NM_007294.4(BRCA1):c.3616G>T (p.Ala1206Ser) SNV
Germline		 Chr17:43091915 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10594736 rs_1555587407

4 SubmittersRCV000510023RCV000590578RCV000701491
NM_007294.4(BRCA1):c.3586A>T (p.Thr1196Ser) SNV
Germline		 Chr17:43091945 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10594790 rs_1340335862

6 SubmittersRCV000509705RCV000709475RCV000989890
NM_007294.4(BRCA1):c.3533G>A (p.Ser1178Asn) SNV
Germline		 Chr17:43091998 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10594904 rs_1294360179

5 SubmittersRCV000510057RCV000552904RCV001194381
NM_007294.4(BRCA1):c.3511A>G (p.Lys1171Glu) SNV
Germline		 Chr17:43092020 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10594950 rs_730882164

3 SubmittersRCV000509884RCV001215892
NM_007294.4(BRCA1):c.3245C>T (p.Ala1082Val) SNV
Germline		 Chr17:43092286 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10595491 rs_1555588115

4 SubmittersRCV000510115RCV001865670RCV002469178
NM_007294.4(BRCA1):c.3196G>T (p.Glu1066Ter) SNV
Germline		 Chr17:43092335 Pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA10595591 rs_1555588220

5 SubmittersRCV000509732RCV000661304RCV001328375
NM_007294.4(BRCA1):c.3034A>G (p.Arg1012Gly) SNV
Germline		 Chr17:43092497 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10595925 rs_1555588503

3 SubmittersRCV000509939RCV001314603
NM_007294.4(BRCA1):c.2539A>G (p.Met847Val) SNV
Germline		 Chr17:43092992 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10596920 rs_1555589446

5 SubmittersRCV000510085RCV003766890RCV004003577
NM_007294.4(BRCA1):c.2503C>T (p.His835Tyr) SNV
Germline		 Chr17:43093028 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA058502 rs_751656678

7 SubmittersRCV000509855RCV000759507RCV000792748RCV002465695RCV004003582
NM_007294.4(BRCA1):c.2267G>A (p.Arg756Lys) SNV
Germline		 Chr17:43093264 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10597465 rs_975724885

5 SubmittersRCV000509670RCV002225642RCV004003568
NM_007294.4(BRCA1):c.1686T>G (p.Ile562Met) SNV
Germline		 Chr17:43093845 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10598658 rs_1268133978

5 SubmittersRCV000510061RCV001049594RCV001527021RCV004003578
NM_007294.4(BRCA1):c.1264T>C (p.Tyr422His) SNV
Germline		 Chr17:43094267 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA057131 rs_764186025

6 SubmittersRCV000510130RCV000637451RCV001778985RCV004003566
NM_007294.4(BRCA1):c.1199A>G (p.Asp400Gly) SNV
Germline		 Chr17:43094332 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10599652 rs_1555592245

3 SubmittersRCV000509770RCV001040180
NM_007294.4(BRCA1):c.1139A>G (p.Gln380Arg) SNV
Germline		 Chr17:43094392 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10599781 rs_876659193

3 SubmittersRCV000509823RCV000537618
NM_007294.4(BRCA1):c.1040T>A (p.Leu347Gln) SNV
Germline		 Chr17:43094491 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA8589954 rs_757987511

4 SubmittersRCV000510063RCV000759486RCV001204569
NM_007294.4(BRCA1):c.1025T>C (p.Leu342Pro) SNV
Germline		 Chr17:43094506 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10600008 rs_1555592634

4 SubmittersRCV000510041RCV002298636
NM_007294.4(BRCA1):c.866G>A (p.Ser289Asn) SNV
Germline		 Chr17:43094665 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA056835 rs_776999497

3 SubmittersRCV000509692RCV001296549
NM_007294.4(BRCA1):c.804C>G (p.Asn268Lys) SNV
Germline		 Chr17:43094727 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA056741 rs_771076131

7 SubmittersRCV000510083RCV000985447RCV001857299RCV003227773RCV003607297
NM_007294.4(BRCA1):c.677G>A (p.Cys226Tyr) SNV
Germline		 Chr17:43094854 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10600737 rs_1376262238

6 SubmittersRCV000509844RCV001059852RCV003321640RCV004003569
NM_007294.4(BRCA1):c.67G>C (p.Glu23Gln) SNV
Germline		 Chr17:43124030 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA10602023 rs_372047427

6 SubmittersRCV000510068RCV001224557RCV001076497RCV001269115
NM_007294.4(BRCA1):c.35A>G (p.Gln12Arg) SNV
Germline		 Chr17:43124062 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10602092 rs_1555601006

4 SubmittersRCV000510066RCV001076455RCV001857315
NM_007294.4(BRCA1):c.9A>T (p.Leu3Phe) SNV
Germline		 Chr17:43124088 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10602140 rs_780157871

5 SubmittersRCV000509994RCV001037875RCV001072304RCV001284306
NM_000051.4(ATM):c.5497-2A>C SNV
Germline		 Chr11:108304673 Pathogenic/Likely pathogenic Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA382545605 rs_786203796

13 SubmittersRCV000521216RCV000557758RCV000563654RCV001171404RCV003483650
NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter) SNV
Germline		 Chr13:32332918 Pathogenic/Likely pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387764299 rs_1555281911

3 SubmittersRCV000522902RCV002469181
NM_000059.4(BRCA2):c.2099T>A (p.Leu700Ter) SNV
Germline		 Chr13:32336454 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387769896 rs_1555282449

5 SubmittersRCV000522630RCV001178335RCV001227638RCV004556803
NM_000059.4(BRCA2):c.6833T>G (p.Ile2278Ser) SNV
Germline		 Chr13:32341188 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387791489 rs_1555284865

4 SubmittersRCV000522420RCV000819360RCV001025709
NM_007294.4(BRCA1):c.5333-2A>G SNV
Germline		 Chr17:43049196 Pathogenic/Likely pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10590803 rs_397509264

3 SubmittersRCV000521854RCV001077231RCV001853626
NM_007294.4(BRCA1):c.1924G>T (p.Asp642Tyr) SNV
Germline		 Chr17:43093607 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10598177 rs_80357344

3 SubmittersRCV000522342RCV003157631RCV003530065
NM_000465.4(BARD1):c.1118G>A (p.Gly373Asp) SNV
Germline		 Chr2:214780756 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA64788116 rs_568305044

3 SubmittersRCV000532171RCV002225649RCV004023835
NM_000465.4(BARD1):c.1162A>C (p.Ile388Leu) SNV
Germline		 Chr2:214780712 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA350453915 rs_1553622215

3 SubmittersRCV000556490RCV002225650RCV002358482
NM_000051.4(ATM):c.434T>G (p.Leu145Arg) SNV
Germline		 Chr11:108235772 Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA382525216 rs_1555059346

3 SubmittersRCV000525165RCV003483654RCV003278875
NM_000059.4(BRCA2):c.908C>A (p.Ser303Tyr) SNV
Germline		 Chr13:32332386 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387760692 rs_867323565

2 SubmittersRCV000537427RCV003157678
NM_000059.4(BRCA2):c.949A>G (p.Thr317Ala) SNV
Germline		 Chr13:32332427 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387760842 rs_1555281645

3 SubmittersRCV000558233RCV001019406
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter) SNV
Germline		 Chr13:32332697 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387762117 rs_781079248

5 SubmittersRCV000547485RCV000583844RCV001783044
NM_000059.4(BRCA2):c.2104A>G (p.Ile702Val) SNV
Germline		 Chr13:32336459 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940580 rs_774968533

5 SubmittersRCV000539846RCV000755869RCV003157642RCV003483660
NM_000059.4(BRCA2):c.2133C>G (p.Cys711Trp) SNV
Germline		 Chr13:32336488 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387770092 rs_535547513

2 SubmittersRCV000554597RCV003157643
NM_000059.4(BRCA2):c.2677C>T (p.Gln893Ter) SNV
Germline		 Chr13:32337032 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387773409 rs_1555282790

3 SubmittersRCV000559928RCV001356785RCV004023890
NM_000059.4(BRCA2):c.2788T>G (p.Tyr930Asp) SNV
Germline		 Chr13:32337143 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387773721 rs_1168540941

2 SubmittersRCV000539927RCV003157647
NM_000059.4(BRCA2):c.2805T>G (p.Asp935Glu) SNV
Germline		 Chr13:32337160 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387773754 rs_749138071

2 SubmittersRCV000544316RCV003157649
NM_000059.4(BRCA2):c.2923A>T (p.Ile975Phe) SNV
Germline		 Chr13:32337278 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940641 rs_757213764

3 SubmittersRCV000538624RCV000574427
NM_000059.4(BRCA2):c.3101T>G (p.Ile1034Ser) SNV
Germline		 Chr13:32337456 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387775331 rs_545974734

2 SubmittersRCV000544883RCV003157651
NM_000059.4(BRCA2):c.3126A>C (p.Leu1042Phe) SNV
Germline		 Chr13:32337481 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387775716 rs_1408500302

2 SubmittersRCV000537862RCV003157652
NM_000059.4(BRCA2):c.3160G>C (p.Asp1054His) SNV
Germline		 Chr13:32337515 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387775783 rs_1555283071

2 SubmittersRCV000536561RCV003157653
NM_000059.4(BRCA2):c.3599G>A (p.Cys1200Tyr) SNV
Germline		 Chr13:32337954 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387777490 rs_1555283305

2 SubmittersRCV000532807RCV003157657
NM_000059.4(BRCA2):c.3797A>T (p.His1266Leu) SNV
Germline		 Chr13:32338152 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387778400 rs_1555283399

2 SubmittersRCV000533420RCV003157659
NM_000059.4(BRCA2):c.3863A>G (p.Asn1288Ser) SNV
Germline		 Chr13:32338218 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940731 rs_80358630

5 SubmittersRCV000551285RCV001177150RCV003999057
NM_000059.4(BRCA2):c.4012G>A (p.Gly1338Ser) SNV
Germline		 Chr13:32338367 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387779020 rs_1555283503

3 SubmittersRCV000545471RCV003157662
NM_000059.4(BRCA2):c.4133C>A (p.Thr1378Asn) SNV
Germline		 Chr13:32338488 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA247506544 rs_945880747

3 SubmittersRCV000538971RCV000572970
NM_000059.4(BRCA2):c.4378T>G (p.Phe1460Val) SNV
Germline		 Chr13:32338733 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387781034 rs_1555283754

4 SubmittersRCV000533478RCV000777191
NM_000059.4(BRCA2):c.4421A>G (p.Lys1474Arg) SNV
Germline		 Chr13:32338776 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940779 rs_780660669

2 SubmittersRCV000554117RCV003157666
NM_000059.4(BRCA2):c.4994A>G (p.Glu1665Gly) SNV
Germline		 Chr13:32339349 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940837 rs_777981245

6 SubmittersRCV000549907RCV000567060RCV001800750RCV003234779
NM_000059.4(BRCA2):c.5459G>A (p.Cys1820Tyr) SNV
Germline		 Chr13:32339814 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387785630 rs_1555284235

3 SubmittersRCV000537912RCV003157672
NM_000059.4(BRCA2):c.5720C>T (p.Ser1907Phe) SNV
Germline		 Chr13:32340075 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387786848 rs_1555284376

2 SubmittersRCV000529732RCV003157673
NM_000059.4(BRCA2):c.6281A>C (p.Tyr2094Ser) SNV
Germline		 Chr13:32340636 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387788993 rs_397507838

5 SubmittersRCV000546817RCV000574242RCV003999065
NM_000059.4(BRCA2):c.6310A>C (p.Lys2104Gln) SNV
Germline		 Chr13:32340665 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387789045 rs_1555284629

3 SubmittersRCV000528876RCV002367822
NM_000059.4(BRCA2):c.6351T>G (p.Cys2117Trp) SNV
Germline		 Chr13:32340706 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387789127 rs_876659368

3 SubmittersRCV000538226RCV002367823
NM_000059.4(BRCA2):c.6736C>T (p.Pro2246Ser) SNV
Germline		 Chr13:32341091 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387791089 rs_1555284840

2 SubmittersRCV000552843RCV003157676
NM_000059.4(BRCA2):c.6884G>C (p.Arg2295Thr) SNV
Germline		 Chr13:32344600 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387792776 rs_1555285151

5 SubmittersRCV000554176RCV000777234RCV003607300RCV003999066
NM_000059.4(BRCA2):c.7008-9C>T SNV
Germline		 Chr13:32354852 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6941051 rs_186220967

5 SubmittersRCV000526918RCV000779949RCV001188391RCV001591220
NM_000059.4(BRCA2):c.7277T>C (p.Ile2426Thr) SNV
Germline		 Chr13:32355130 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387740652 rs_1555286064

3 SubmittersRCV000775959RCV000550828
NM_000059.4(BRCA2):c.7462A>G (p.Arg2488Gly) SNV
Germline		 Chr13:32356454 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6941102 rs_746057464

5 SubmittersRCV000529176RCV001026467RCV001591221RCV003483661
NM_000059.4(BRCA2):c.7823C>A (p.Pro2608Gln) SNV
Germline		 Chr13:32362540 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387746992 rs_1555286825

2 SubmittersRCV000546424RCV002413491
NM_000059.4(BRCA2):c.7976+5G>T SNV
Germline		 Chr13:32362698 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA658656488 rs_786201180

5 SubmittersRCV000537532RCV000582257RCV000985595
NM_000059.4(BRCA2):c.9155G>T (p.Arg3052Leu) SNV
Germline		 Chr13:32380044 Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387757934 rs_80359171

2 SubmittersRCV000533436RCV002377049
NM_000059.4(BRCA2):c.10187G>A (p.Ser3396Asn) SNV
Germline		 Chr13:32398700 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387768335 rs_889208749

7 SubmittersRCV000527103RCV000563670RCV000612812RCV000985458RCV003999052
NM_000059.4(BRCA2):c.950C>T (p.Thr317Ile) SNV
Germline		 Chr13:32332428 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387760849 rs_1341473353

4 SubmittersRCV000535822RCV000758977RCV003157679
NM_000059.4(BRCA2):c.1537A>G (p.Lys513Glu) SNV
Germline		 Chr13:32333015 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387764611 rs_1555281938

5 SubmittersRCV000542434RCV000776771RCV003999054
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu) SNV
Germline		 Chr13:32333383 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions		 Criteria Provided
Conflicting Classifications
 CA387767364 rs_1555282154

5 SubmittersRCV000552197RCV001805161RCV002476132
NM_000059.4(BRCA2):c.2353A>G (p.Ile785Val) SNV
Germline		 Chr13:32336708 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940598 rs_747748537

7 SubmittersRCV000537492RCV000773187RCV001770424
NM_000059.4(BRCA2):c.2435A>C (p.Asn812Thr) SNV
Germline		 Chr13:32336790 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387772190 rs_1555282665

2 SubmittersRCV000540692RCV003157644
NM_000059.4(BRCA2):c.2485A>G (p.Lys829Glu) SNV
Germline		 Chr13:32336840 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387772396 rs_1270048702

5 SubmittersRCV000524581RCV000774651RCV004561497
NM_000059.4(BRCA2):c.2711G>A (p.Gly904Glu) SNV
Germline		 Chr13:32337066 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387773533 rs_1555282808

2 SubmittersRCV000526570RCV003157646
NM_000059.4(BRCA2):c.2759C>T (p.Pro920Leu) SNV
Germline		 Chr13:32337114 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387773659 rs_1555282835

4 SubmittersRCV000556022RCV001016518
NM_000059.4(BRCA2):c.2792G>C (p.Gly931Ala) SNV
Germline		 Chr13:32337147 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387773729 rs_587781685

2 SubmittersRCV000529554RCV003157648
NM_000059.4(BRCA2):c.2884C>T (p.His962Tyr) SNV
Germline		 Chr13:32337239 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940639 rs_755777807

6 SubmittersRCV000547179RCV000572022RCV003493629
NM_000059.4(BRCA2):c.2911T>A (p.Leu971Ile) SNV
Germline		 Chr13:32337266 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387774190 rs_1555282936

3 SubmittersRCV000534263RCV002438339
NM_000059.4(BRCA2):c.3503T>C (p.Met1168Thr) SNV
Germline		 Chr13:32337858 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387776957 rs_80358598

7 SubmittersRCV000526728RCV000571371RCV002476133RCV003607299RCV003999055
NM_000059.4(BRCA2):c.3893T>G (p.Ile1298Ser) SNV
Germline		 Chr13:32338248 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387778773 rs_80358633

4 SubmittersRCV000549778RCV000583599
NM_000059.4(BRCA2):c.3936T>G (p.Asn1312Lys) SNV
Germline		 Chr13:32338291 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387778862 rs_876659198

2 SubmittersRCV000528227RCV003157660
NM_000059.4(BRCA2):c.4007T>C (p.Phe1336Ser) SNV
Germline		 Chr13:32338362 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940740 rs_757305371

6 SubmittersRCV000555839RCV000567778RCV001284420RCV003999058
NM_000059.4(BRCA2):c.4147G>T (p.Asp1383Tyr) SNV
Germline		 Chr13:32338502 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387779981 rs_587782234

3 SubmittersRCV000532870RCV003157665
NM_000059.4(BRCA2):c.4156G>A (p.Asp1386Asn) SNV
Germline		 Chr13:32338511 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387780015 rs_1555283600

5 SubmittersRCV000553527RCV001021966RCV003317263
NM_000059.4(BRCA2):c.4211C>A (p.Ser1404Ter) SNV
Germline		 Chr13:32338566 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 CA387780259 rs_41293489

1 SubmittersRCV000560709
NM_000059.4(BRCA2):c.4277C>T (p.Thr1426Ile) SNV
Germline		 Chr13:32338632 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940766 rs_748591104

9 SubmittersRCV000547653RCV000772746RCV001355495RCV002250653RCV000985521
NM_000059.4(BRCA2):c.4479A>C (p.Glu1493Asp) SNV
Germline		 Chr13:32338834 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387781493 rs_1555283805

2 SubmittersRCV000535063RCV003157667
NM_000059.4(BRCA2):c.4508T>C (p.Leu1503Pro) SNV
Germline		 Chr13:32338863 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387781611 rs_1555283814

3 SubmittersRCV000533731RCV003157668
NM_000059.4(BRCA2):c.4526A>G (p.Gln1509Arg) SNV
Germline		 Chr13:32338881 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940787 rs_764435740

5 SubmittersRCV000527013RCV001284567RCV002341297RCV003999060
NM_000059.4(BRCA2):c.4606A>G (p.Lys1536Glu) SNV
Germline		 Chr13:32338961 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387781989 rs_1555283871

3 SubmittersRCV000525454RCV002341298
NM_000059.4(BRCA2):c.4736C>T (p.Ala1579Val) SNV
Germline		 Chr13:32339091 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA387783044 rs_1555283920

7 SubmittersRCV000545121RCV000562970RCV000758899RCV002469188
NM_000059.4(BRCA2):c.4831G>T (p.Val1611Leu) SNV
Germline		 Chr13:32339186 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387783324 rs_1555283948

2 SubmittersRCV000540740RCV003157669
NM_000059.4(BRCA2):c.5149G>A (p.Glu1717Lys) SNV
Germline		 Chr13:32339504 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA247509100 rs_893978143

2 SubmittersRCV000525891RCV003157670
NM_000059.4(BRCA2):c.5692G>T (p.Asp1898Tyr) SNV
Germline		 Chr13:32340047 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387786672 rs_1476725701

3 SubmittersRCV000552807RCV000567107
NM_000059.4(BRCA2):c.5750C>G (p.Ser1917Ter) SNV
Germline		 Chr13:32340105 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387787011 rs_886040609

2 SubmittersRCV000548883RCV002350228
NM_000059.4(BRCA2):c.5786T>C (p.Ile1929Thr) SNV
Germline		 Chr13:32340141 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387787159 rs_1555284396

3 SubmittersRCV000547354RCV003157674
NM_000059.4(BRCA2):c.7618-18T>C SNV
Germline		 Chr13:32357724 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6941120 rs_560091100

3 SubmittersRCV000531867RCV001179862RCV001199868
NM_000059.4(BRCA2):c.8331+14C>T SNV
Germline		 Chr13:32363547 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA609453927 rs_1287378096

6 SubmittersRCV000547147RCV000582820RCV000662863RCV001618727RCV001778995
NM_000059.4(BRCA2):c.9117+16T>G SNV
Germline		 Chr13:32379929 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6941332 rs_780689895

2 SubmittersRCV000551409RCV000586781
NM_000059.4(BRCA2):c.9334G>A (p.Asp3112Asn) SNV
Germline		 Chr13:32394766 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6941377 rs_759851035

4 SubmittersRCV000525864RCV000580977RCV001775857
NM_000059.4(BRCA2):c.68-6A>T SNV
Germline		 Chr13:32319071 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA658656326 rs_1555280325

4 SubmittersRCV000555474RCV000583118RCV001848934RCV003150264
NM_000059.4(BRCA2):c.414T>A (p.Cys138Ter) SNV
Germline		 Chr13:32325173 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387756754 rs_1555280869

5 SubmittersRCV000538469RCV003234778RCV003139760RCV003302810RCV004017668
NM_000059.4(BRCA2):c.976A>G (p.Ser326Gly) SNV
Germline		 Chr13:32332454 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387760937 rs_1052441923

2 SubmittersRCV000544927RCV003157680
NM_000059.4(BRCA2):c.1160T>C (p.Val387Ala) SNV
Germline		 Chr13:32332638 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940494 rs_373945846

5 SubmittersRCV000530126RCV000771483RCV003441925
NM_000059.4(BRCA2):c.1229A>G (p.Lys410Arg) SNV
Germline		 Chr13:32332707 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387762180 rs_1555281782

2 SubmittersRCV000551134RCV003157635
NM_000059.4(BRCA2):c.1402A>T (p.Arg468Ter) SNV
Germline		 Chr13:32332880 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 CA387764159 rs_1555281894

1 SubmittersRCV000560122
NM_000059.4(BRCA2):c.1990G>T (p.Gly664Trp) SNV
Germline		 Chr13:32336345 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387768650 rs_1346252146

2 SubmittersRCV000537108RCV003157641
NM_000059.4(BRCA2):c.2072C>T (p.Ala691Val) SNV
Germline		 Chr13:32336427 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA247500536 rs_868546240

5 SubmittersRCV000550266RCV000574854RCV001550848
NM_000059.4(BRCA2):c.2285A>G (p.Asp762Gly) SNV
Germline		 Chr13:32336640 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387771169 rs_1555282600

3 SubmittersRCV000529943RCV002448667
NM_000059.4(BRCA2):c.3200C>G (p.Thr1067Ser) SNV
Germline		 Chr13:32337555 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387775863 rs_1555283092

3 SubmittersRCV000551092RCV003157654
NM_000059.4(BRCA2):c.3517A>G (p.Ile1173Val) SNV
Germline		 Chr13:32337872 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387777031 rs_431825308

5 SubmittersRCV000540104RCV000759599RCV001178550
NM_000059.4(BRCA2):c.3752C>T (p.Thr1251Ile) SNV
Germline		 Chr13:32338107 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387778191 rs_1555283384

2 SubmittersRCV000552237RCV003157658
NM_000059.4(BRCA2):c.4010A>T (p.Asp1337Val) SNV
Germline		 Chr13:32338365 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387779017 rs_1555283501

2 SubmittersRCV000529722RCV003157661
NM_000059.4(BRCA2):c.4088A>G (p.Asn1363Ser) SNV
Germline		 Chr13:32338443 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387779211 rs_1165204072

5 SubmittersRCV000547329RCV000581950RCV003999059
NM_000059.4(BRCA2):c.4165T>G (p.Phe1389Val) SNV
Germline		 Chr13:32338520 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA16020672 rs_1409088355

9 SubmittersRCV000531813RCV000574569RCV000759615RCV001260350RCV003447540
NM_000059.4(BRCA2):c.4472T>C (p.Leu1491Pro) SNV
Germline		 Chr13:32338827 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387781465 rs_1555283798

4 SubmittersRCV000545774RCV001805162RCV002330857
NM_000059.4(BRCA2):c.4584C>G (p.Ser1528Arg) SNV
Germline		 Chr13:32338939 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA6940797 rs_80359788

7 SubmittersRCV000537486RCV000565812RCV000662564RCV002307534
NM_000059.4(BRCA2):c.4601T>C (p.Ile1534Thr) SNV
Germline		 Chr13:32338956 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387781976 rs_1555283869

5 SubmittersRCV000550868RCV000581048RCV002476134
NM_000059.4(BRCA2):c.4802A>T (p.Asp1601Val) SNV
Germline		 Chr13:32339157 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387783260 rs_80358704

3 SubmittersRCV000536692RCV001023081
NM_000059.4(BRCA2):c.516+17G>T SNV
Germline		 Chr13:32326299 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940382 rs_765435155

7 SubmittersRCV000525545RCV000583150RCV000610612RCV001724040RCV003493630
NM_000059.4(BRCA2):c.5047C>T (p.Gln1683Ter) SNV
Germline		 Chr13:32339402 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387784014 rs_1555284044

4 SubmittersRCV000541691RCV000581690RCV003476253
NM_000059.4(BRCA2):c.851G>T (p.Gly284Val) SNV
Germline		 Chr13:32332329 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387760534 rs_1064793865

2 SubmittersRCV000548029RCV003157677
NM_000059.4(BRCA2):c.5378A>T (p.Asn1793Ile) SNV
Germline		 Chr13:32339733 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387785188 rs_80358759

2 SubmittersRCV000545544RCV003157671
NM_000059.4(BRCA2):c.1190A>G (p.Gln397Arg) SNV
Germline		 Chr13:32332668 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387762021 rs_1555281770

2 SubmittersRCV000558698RCV003157634
NM_000059.4(BRCA2):c.1285T>A (p.Leu429Ile) SNV
Germline		 Chr13:32332763 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387762445 rs_1555281818

2 SubmittersRCV000533427RCV003157636
NM_000059.4(BRCA2):c.1391T>C (p.Val464Ala) SNV
Germline		 Chr13:32332869 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387764116 rs_1372510250

2 SubmittersRCV000532504RCV003157637
NM_000059.4(BRCA2):c.6181G>A (p.Ala2061Thr) SNV
Germline		 Chr13:32340536 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387788393 rs_1555284585

5 SubmittersRCV000529110RCV000780011RCV001024975
NM_000059.4(BRCA2):c.1400A>G (p.Lys467Arg) SNV
Germline		 Chr13:32332878 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA387764150 rs_1555281893

4 SubmittersRCV000530420RCV003157638RCV003150263
NM_000059.4(BRCA2):c.1498G>C (p.Gly500Arg) SNV
Germline		 Chr13:32332976 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387764477 rs_1233016217

4 SubmittersRCV000549168RCV002395349RCV003225082
NM_000059.4(BRCA2):c.6232G>C (p.Gly2078Arg) SNV
Germline		 Chr13:32340587 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387788895 rs_1555284605

3 SubmittersRCV000536621RCV000570040
NM_000059.4(BRCA2):c.6506C>A (p.Thr2169Asn) SNV
Germline		 Chr13:32340861 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387789564 rs_1555284726

2 SubmittersRCV000559713RCV003157675
NM_000059.4(BRCA2):c.1504A>G (p.Lys502Glu) SNV
Germline		 Chr13:32332982 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387764497 rs_276174809

3 SubmittersRCV000527560RCV003157639
NM_000059.4(BRCA2):c.1547T>C (p.Phe516Ser) SNV
Germline		 Chr13:32333025 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387764650 rs_768641298

2 SubmittersRCV000541562RCV003157640
NM_000059.4(BRCA2):c.1555A>G (p.Ser519Gly) SNV
Germline		 Chr13:32333033 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387764677 rs_1555281950

5 SubmittersRCV000555286RCV000580014RCV001090206
NM_000059.4(BRCA2):c.1597A>G (p.Thr533Ala) SNV
Germline		 Chr13:32333075 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387764821 rs_1555281980

3 SubmittersRCV000554344RCV001012326
NM_000059.4(BRCA2):c.1645A>G (p.Lys549Glu) SNV
Germline		 Chr13:32333123 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387764979 rs_1555281997

5 SubmittersRCV000532792RCV000567989
NM_000059.4(BRCA2):c.1794A>G (p.Thr598=) SNV
Germline		 Chr13:32333272 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA483436870 rs_1159099773

4 SubmittersRCV000546984RCV000569367RCV003235279
NM_000059.4(BRCA2):c.1888A>G (p.Thr630Ala) SNV
Germline		 Chr13:32333366 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387766739 rs_1335307553

6 SubmittersRCV000526957RCV000771482RCV001811040
NM_000059.4(BRCA2):c.1939T>G (p.Cys647Gly) SNV
Germline		 Chr13:32336294 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387768354 rs_1555282367

5 SubmittersRCV000529366RCV002255441RCV003478144
NM_000059.4(BRCA2):c.2522G>C (p.Arg841Thr) SNV
Germline		 Chr13:32336877 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387772469 rs_587781915

2 SubmittersRCV000555152RCV003157645
NM_000059.4(BRCA2):c.2650T>G (p.Ser884Ala) SNV
Germline		 Chr13:32337005 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387773301 rs_1555282771

3 SubmittersRCV000549818RCV002456094
NM_000059.4(BRCA2):c.2689G>A (p.Glu897Lys) SNV
Germline		 Chr13:32337044 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA247502815 rs_979372317

3 SubmittersRCV000527929RCV000777186
NM_000059.4(BRCA2):c.9118-18T>C SNV
Germline		 Chr13:32379989 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658656429 rs_1555288527

2 SubmittersRCV000781129RCV001453331
NM_000059.4(BRCA2):c.9372C>A (p.Asn3124Lys) SNV
Germline		 Chr13:32394804 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387761213 rs_1420566833

5 SubmittersRCV000540722RCV001775858RCV002377052RCV003493632RCV004568791
NM_000059.4(BRCA2):c.2698A>C (p.Asn900His) SNV
Germline		 Chr13:32337053 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387773485 rs_55736268

4 SubmittersRCV000548310RCV000568709
NM_000059.4(BRCA2):c.2992G>T (p.Gly998Cys) SNV
Germline		 Chr13:32337347 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387774619 rs_777615894

2 SubmittersRCV000527086RCV003157650
NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter) SNV
Germline		 Chr13:32398408 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387766882 rs_1555289997

2 SubmittersRCV000536354RCV002384090
NM_000059.4(BRCA2):c.3149C>T (p.Thr1050Ile) SNV
Germline		 Chr13:32337504 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA247504652 rs_1010143466

3 SubmittersRCV000543517RCV001018811
NM_000059.4(BRCA2):c.3382A>T (p.Thr1128Ser) SNV
Germline		 Chr13:32337737 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387776431 rs_730881523

2 SubmittersRCV000552725RCV003157655
NM_000059.4(BRCA2):c.3410T>C (p.Leu1137Ser) SNV
Germline		 Chr13:32337765 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387776487 rs_1555283225

2 SubmittersRCV000556877RCV003157656
NM_000059.4(BRCA2):c.3577G>A (p.Ala1193Thr) SNV
Germline		 Chr13:32337932 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387777366 rs_1555283297

3 SubmittersRCV000539752RCV001178549
NM_000059.4(BRCA2):c.3586T>A (p.Leu1196Met) SNV
Germline		 Chr13:32337941 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387777406 rs_1449762196

3 SubmittersRCV000554658RCV001525112
NM_000059.4(BRCA2):c.3644G>A (p.Gly1215Glu) SNV
Germline		 Chr13:32337999 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940712 rs_773442698

6 SubmittersRCV000556462RCV000571908RCV002272282RCV003478145
NM_000059.4(BRCA2):c.3755C>A (p.Ser1252Tyr) SNV
Germline		 Chr13:32338110 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387778198 rs_1361496246

5 SubmittersRCV000525829RCV000777180RCV001199889RCV003999056
NM_000059.4(BRCA2):c.3816G>A (p.Met1272Ile) SNV
Germline		 Chr13:32338171 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387778464 rs_1469541725

5 SubmittersRCV000558285RCV000781112RCV001284084RCV002367820
NM_000059.4(BRCA2):c.4072T>G (p.Phe1358Val) SNV
Germline		 Chr13:32338427 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387779153 rs_1555283536

2 SubmittersRCV000537265RCV003157663
NM_000059.4(BRCA2):c.4120A>C (p.Lys1374Gln) SNV
Germline		 Chr13:32338475 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387779329 rs_864622126

2 SubmittersRCV000550336RCV003157664
NM_000059.4(BRCA2):c.4567G>C (p.Gly1523Arg) SNV
Germline		 Chr13:32338922 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940793 rs_587781418

8 SubmittersRCV000554873RCV000779994RCV001022709RCV002528344RCV003478146
NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter) SNV
Germline		 Chr13:32338946 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387781936 rs_1555283865

4 SubmittersRCV000557526RCV000657707RCV001022751
NM_000059.4(BRCA2):c.4620C>T (p.Asp1540=) SNV
Germline		 Chr13:32338975 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA483438074 rs_1555283875

6 SubmittersRCV000528944RCV001180550RCV001356652RCV002282212
NM_000059.4(BRCA2):c.4655G>A (p.Gly1552Asp) SNV
Germline		 Chr13:32339010 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387782214 rs_80358696

3 SubmittersRCV000527633RCV001022850
NM_000059.4(BRCA2):c.4696A>G (p.Thr1566Ala) SNV
Germline		 Chr13:32339051 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387782881 rs_1555283904

6 SubmittersRCV000531715RCV000581333RCV003321650RCV003999061
NM_000059.4(BRCA2):c.5350A>C (p.Asn1784His) SNV
Germline		 Chr13:32339705 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387785038 rs_1308950771

5 SubmittersRCV000552221RCV000573254RCV003999062
NM_000059.4(BRCA2):c.5494T>C (p.Ser1832Pro) SNV
Germline		 Chr13:32339849 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387785769 rs_1555284247

4 SubmittersRCV000551329RCV002268146RCV002350226
NM_000059.4(BRCA2):c.5717A>G (p.Asn1906Ser) SNV
Germline		 Chr13:32340072 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387786819 rs_1555284372

7 SubmittersRCV000560373RCV001185973RCV001764558RCV003999063
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro) SNV
Germline		 Chr13:32340293 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940915 rs_55877890

6 SubmittersRCV000531811RCV000568300RCV003447541RCV003999064
NM_000059.4(BRCA2):c.6106C>G (p.Pro2036Ala) SNV
Germline		 Chr13:32340461 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387788111 rs_587782740

3 SubmittersRCV000541431RCV001178552
NM_000059.4(BRCA2):c.6677A>G (p.Glu2226Gly) SNV
Germline		 Chr13:32341032 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387790549 rs_1281267586

4 SubmittersRCV000528701RCV000569289RCV002280124
NM_000059.4(BRCA2):c.7579G>A (p.Val2527Ile) SNV
Germline		 Chr13:32356571 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387743822 rs_1555286293

2 SubmittersRCV000532571RCV002395350
NM_000059.4(BRCA2):c.8548G>T (p.Glu2850Ter) SNV
Germline		 Chr13:32371016 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387752774 rs_80359110

4 SubmittersRCV000540222RCV000571409
NM_000059.4(BRCA2):c.8909G>A (p.Trp2970Ter) SNV
Germline		 Chr13:32379471 Pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387757254 rs_1555288397

3 SubmittersRCV000558467RCV000985610RCV002289751
NM_000059.4(BRCA2):c.9433G>T (p.Val3145Leu) SNV
Germline		 Chr13:32394865 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387761547 rs_587776476

3 SubmittersRCV000554636RCV000776684
NM_000059.4(BRCA2):c.10054C>G (p.Leu3352Val) SNV
Germline		 Chr13:32398567 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387767846 rs_1475702169

3 SubmittersRCV000543513RCV001009670RCV003607298
NM_000059.4(BRCA2):c.10127C>G (p.Ser3376Ter) SNV
Germline		 Chr13:32398640 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387768086 rs_1555290049

4 SubmittersRCV000587368RCV000775705RCV001479993
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) SNV
Germline		 Chr15:90767009 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Bloom syndrome		 Criteria Provided
Conflicting Classifications
 CA7738710 rs_191789336

8 SubmittersRCV000526205RCV000563745RCV001030454RCV001082616
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) SNV
Germline		 Chr15:90790664 Conflicting classifications of pathogenicity Bloom syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Ovarian cancer
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7738884 rs_189925962

8 SubmittersRCV000541196RCV001016575RCV001030457RCV001194357RCV003153670RCV003478099
NM_007294.4(BRCA1):c.5277+1G>T SNV
Germline		 Chr17:43057051 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10590997 rs_80358150

3 SubmittersRCV001072608RCV000545164RCV002350229
NM_007294.4(BRCA1):c.4185+5A>G SNV
Germline		 Chr17:43090939 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA059589 rs_766330646

3 SubmittersRCV000554825RCV000759532
NM_007294.4(BRCA1):c.3988A>T (p.Ser1330Cys) SNV
Germline		 Chr17:43091543 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10593986 rs_1555586688

5 SubmittersRCV000525249RCV001021587RCV003478150RCV003999074
NM_007294.4(BRCA1):c.3836C>T (p.Ala1279Val) SNV
Germline		 Chr17:43091695 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10594292 rs_1555586967

3 SubmittersRCV000558014RCV002367829
NM_007294.4(BRCA1):c.3620A>T (p.Lys1207Met) SNV
Germline		 Chr17:43091911 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10594729 rs_1555587402

3 SubmittersRCV000535503RCV001357923RCV003157704
NM_007294.4(BRCA1):c.3129T>C (p.Asn1043=) SNV
Germline		 Chr17:43092402 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA500232259 rs_1555588339

4 SubmittersRCV000548170RCV001185479RCV001799677
NM_007294.4(BRCA1):c.2555T>C (p.Leu852Pro) SNV
Germline		 Chr17:43092976 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596881 rs_1555589415

4 SubmittersRCV000532375RCV000560938
NM_007294.4(BRCA1):c.2405T>G (p.Val802Gly) SNV
Germline		 Chr17:43093126 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597197 rs_1555589737

2 SubmittersRCV000560561RCV003157695
NM_007294.4(BRCA1):c.2239C>T (p.Pro747Ser) SNV
Germline		 Chr17:43093292 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597520 rs_1555590087

5 SubmittersRCV000552520RCV000663173RCV000777227
NM_007294.4(BRCA1):c.1814C>A (p.Ala605Glu) SNV
Germline		 Chr17:43093717 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598389 rs_1555591195

2 SubmittersRCV000556281RCV003157689
NM_007294.4(BRCA1):c.1711A>G (p.Ile571Val) SNV
Germline		 Chr17:43093820 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598605 rs_1310719199

4 SubmittersRCV000554416RCV001193800RCV002404415
NM_007294.4(BRCA1):c.1478T>C (p.Ile493Thr) SNV
Germline		 Chr17:43094053 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10599091 rs_1555591707

3 SubmittersRCV000527385RCV000777183
NM_007294.4(BRCA1):c.547+1G>C SNV
Germline		 Chr17:43099774 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA10601039 rs_80358030

2 SubmittersRCV000545283
NM_002878.4(RAD51D):c.667+9T>C SNV
Germline		 Chr17:35103445 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA8499395 rs_772193051

4 SubmittersRCV000533824RCV000583211RCV003482149RCV003492096
NM_007294.4(BRCA1):c.5339T>A (p.Leu1780Gln) SNV
Germline		 Chr17:43049188 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 CA10590784 rs_80357474

1 SubmittersRCV000548095
NM_007294.4(BRCA1):c.5315T>G (p.Phe1772Cys) SNV
Germline		 Chr17:43051080 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10590920 rs_1555575700

3 SubmittersRCV001072688RCV000529363
NM_007294.4(BRCA1):c.5260G>C (p.Glu1754Gln) SNV
Germline		 Chr17:43057069 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA054279 rs_80357432

7 SubmittersRCV000552413RCV000663140RCV000776460RCV003238765
NM_007294.4(BRCA1):c.4048G>C (p.Gly1350Arg) SNV
Germline		 Chr17:43091483 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10593865 rs_748674194

2 SubmittersRCV000556547RCV003157707
NM_007294.4(BRCA1):c.3269A>G (p.Gln1090Arg) SNV
Germline		 Chr17:43092262 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595450 rs_1555588045

4 SubmittersRCV000543817RCV001764559RCV002231374RCV003157701
NM_007294.4(BRCA1):c.3173T>G (p.Ile1058Ser) SNV
Germline		 Chr17:43092358 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595640 rs_1555588264

3 SubmittersRCV000529649RCV003157700
NM_007294.4(BRCA1):c.2849C>T (p.Ser950Phe) SNV
Germline		 Chr17:43092682 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10596289 rs_1555588847

5 SubmittersRCV000542549RCV000777275RCV003478149
NM_007294.4(BRCA1):c.2548A>C (p.Ser850Arg) SNV
Germline		 Chr17:43092983 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596898 rs_1555589429

2 SubmittersRCV000527058RCV003157697
NM_007294.4(BRCA1):c.2528C>G (p.Thr843Arg) SNV
Germline		 Chr17:43093003 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596942 rs_1555589466

3 SubmittersRCV000555456RCV000565654
NM_007294.4(BRCA1):c.1981A>G (p.Arg661Gly) SNV
Germline		 Chr17:43093550 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598055 rs_1555590724

3 SubmittersRCV000540469RCV001013944
NM_007294.4(BRCA1):c.1675G>A (p.Gly559Ser) SNV
Germline		 Chr17:43093856 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10598683 rs_1555591384

5 SubmittersRCV000528590RCV000777272RCV003493633
NM_007294.4(BRCA1):c.1205A>T (p.Glu402Val) SNV
Germline		 Chr17:43094326 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10599640 rs_1555592216

2 SubmittersRCV000547374RCV003157683
NM_007294.4(BRCA1):c.1114T>A (p.Trp372Arg) SNV
Germline		 Chr17:43094417 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10599830 rs_1306111238

2 SubmittersRCV000544647RCV003157681
NM_007294.4(BRCA1):c.97G>T (p.Glu33Ter) SNV
Germline		 Chr17:43115763 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10601958 rs_80357066

3 SubmittersRCV000532011RCV001076971RCV002384092
NM_002878.4(RAD51D):c.904-2A>T SNV
Germline		 Chr17:35101038 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary site-specific ovarian cancer syndrome
Gastric cancer		 Criteria Provided
Conflicting Classifications
 CA399086196 rs_1403784434

8 SubmittersRCV000540056RCV000562807RCV001030588RCV001171472RCV003159903
NM_007294.4(BRCA1):c.4049G>T (p.Gly1350Val) SNV
Germline		 Chr17:43091482 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10593862 rs_1433564897

2 SubmittersRCV000532340RCV003157708
NM_007294.4(BRCA1):c.4045A>G (p.Thr1349Ala) SNV
Germline		 Chr17:43091486 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10593870 rs_80357231

4 SubmittersRCV000531377RCV001021742RCV003999075
NM_007294.4(BRCA1):c.3673T>G (p.Cys1225Gly) SNV
Germline		 Chr17:43091858 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10594622 rs_1382025345

2 SubmittersRCV000549825RCV003157706
NM_007294.4(BRCA1):c.3595G>T (p.Ala1199Ser) SNV
Germline		 Chr17:43091936 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10594772 rs_1555587437

3 SubmittersRCV000546772RCV003157703
NM_007294.4(BRCA1):c.3409A>G (p.Met1137Val) SNV
Germline		 Chr17:43092122 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA057871 rs_771479616

7 SubmittersRCV000527157RCV000568958RCV000587353RCV003999073
NM_007294.4(BRCA1):c.3119G>C (p.Ser1040Thr) SNV
Germline		 Chr17:43092412 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595747 rs_4986852

3 SubmittersRCV000540088RCV000989891RCV003157699
NM_007294.4(BRCA1):c.2501G>A (p.Gly834Glu) SNV
Germline		 Chr17:43093030 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA058509 rs_757383244

6 SubmittersRCV000582678RCV000537494RCV000585609
NM_007294.4(BRCA1):c.2253G>C (p.Met751Ile) SNV
Germline		 Chr17:43093278 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597494 rs_1555590040

2 SubmittersRCV000540973RCV003157693
NM_007294.4(BRCA1):c.2165T>C (p.Val722Ala) SNV
Germline		 Chr17:43093366 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597672 rs_1555590311

2 SubmittersRCV000549694RCV003157692
NM_007294.4(BRCA1):c.1243G>T (p.Val415Phe) SNV
Germline		 Chr17:43094288 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10599565 rs_587782770

3 SubmittersRCV000533425RCV003157685
NM_007294.4(BRCA1):c.1241A>C (p.Asp414Ala) SNV
Germline		 Chr17:43094290 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10599571 rs_1555592086

2 SubmittersRCV000552874RCV003157684
NM_007294.4(BRCA1):c.1175T>C (p.Leu392Pro) SNV
Germline		 Chr17:43094356 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10599700 rs_777305766

3 SubmittersRCV000526978RCV001540352RCV003157682
NM_007294.4(BRCA1):c.898G>A (p.Glu300Lys) SNV
Germline		 Chr17:43094633 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10600280 rs_886040330

5 SubmittersRCV000538617RCV000561572RCV003999077
NM_007294.4(BRCA1):c.767G>A (p.Arg256Lys) SNV
Germline		 Chr17:43094764 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10600551 rs_11658785

6 SubmittersRCV000529920RCV002286753RCV002404416RCV003483663
NM_007294.4(BRCA1):c.654G>A (p.Leu218=) SNV
Germline		 Chr17:43095862 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA500124015 rs_1555593548

3 SubmittersRCV000550213RCV002367830
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg) SNV
Germline		 Chr17:58720812 Conflicting classifications of pathogenicity Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA400359832 rs_1555602158

4 SubmittersRCV000553972RCV000564740RCV000709517
NM_007294.4(BRCA1):c.442-1G>T SNV
Germline		 Chr17:43099881 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10601258 rs_1351019392

9 SubmittersRCV000548280RCV001022460RCV000663008RCV000781007RCV001837951
NM_007294.4(BRCA1):c.286G>C (p.Asp96His) SNV
Germline		 Chr17:43104883 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10601582 rs_80357110

4 SubmittersRCV000531019RCV001077804RCV001770425RCV002438341
NM_007294.4(BRCA1):c.5167A>G (p.Ile1723Val) SNV
Germline		 Chr17:43063359 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10591212 rs_1426821558

5 SubmittersRCV001072422RCV000536072RCV001724041RCV002341301
NM_007294.4(BRCA1):c.4046C>G (p.Thr1349Arg) SNV
Germline		 Chr17:43091485 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA10593867 rs_80357345

7 SubmittersRCV000544160RCV000565791RCV001284396RCV001821530
NM_007294.4(BRCA1):c.3666G>C (p.Glu1222Asp) SNV
Germline		 Chr17:43091865 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA10594638 rs_1555587312

6 SubmittersRCV000548913RCV000567011RCV000755852RCV003321654
NM_007294.4(BRCA1):c.3392A>G (p.Asp1131Gly) SNV
Germline		 Chr17:43092139 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595193 rs_1555587813

5 SubmittersRCV000534135RCV001770426RCV002469189RCV003157702
NM_007294.4(BRCA1):c.3027A>C (p.Ser1009=) SNV
Germline		 Chr17:43092504 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA500232353 rs_1555588512

2 SubmittersRCV000558515RCV001090202
NM_007294.4(BRCA1):c.3005A>T (p.Asn1002Ile) SNV
Germline		 Chr17:43092526 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595987 rs_1555588553

2 SubmittersRCV000532861RCV003157698
NM_007294.4(BRCA1):c.2815G>A (p.Val939Ile) SNV
Germline		 Chr17:43092716 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596363 rs_1555588896

4 SubmittersRCV000549570RCV001284539RCV002438340
NM_007294.4(BRCA1):c.2417C>T (p.Ala806Val) SNV
Germline		 Chr17:43093114 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597172 rs_1555589705

3 SubmittersRCV000536745RCV000985387RCV003157696
NM_007294.4(BRCA1):c.2320G>T (p.Gly774Cys) SNV
Germline		 Chr17:43093211 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597362 rs_1555589917

2 SubmittersRCV000547226RCV003157694
NM_007294.4(BRCA1):c.2033C>T (p.Ala678Val) SNV
Germline		 Chr17:43093498 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597942 rs_1555590634

2 SubmittersRCV000529874RCV003157691
NM_007294.4(BRCA1):c.1949T>C (p.Ile650Thr) SNV
Germline		 Chr17:43093582 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598124 rs_1555590816

2 SubmittersRCV000547574RCV003157690
NM_007294.4(BRCA1):c.1807T>G (p.Ser603Ala) SNV
Germline		 Chr17:43093724 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598402 rs_1555591208

2 SubmittersRCV000539297RCV003157688
NM_007294.4(BRCA1):c.1558A>C (p.Lys520Gln) SNV
Germline		 Chr17:43093973 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598930 rs_1555591572

2 SubmittersRCV000534658RCV003157686
NM_007294.4(BRCA1):c.1061A>T (p.Asn354Ile) SNV
Germline		 Chr17:43094470 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10599935 rs_1555592577

4 SubmittersRCV000553065RCV001009817RCV003226321
NM_007294.4(BRCA1):c.191G>C (p.Cys64Ser) SNV
Germline		 Chr17:43106477 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 CA10601786 rs_55851803

2 SubmittersRCV000559047RCV001076723
NM_007194.4(CHEK2):c.1096-1G>C SNV
Germline		 Chr22:28695874 Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA411097245 rs_1060502716

4 SubmittersRCV000541307RCV000565718RCV001280574
NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter) SNV
Germline		 Chr2:214769282 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350450413 rs_1553619721

5 SubmittersRCV000562658RCV001030609RCV003335479RCV003159956
NM_000179.3(MSH6):c.2885T>C (p.Ile962Thr) SNV
Germline		 Chr2:47800868 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Lynch syndrome		 Criteria Provided
Conflicting Classifications
 CA069760 rs_778287080

8 SubmittersRCV000561841RCV000629885RCV001374579RCV001355686RCV001764641RCV004000884
NM_005732.4(RAD50):c.552-1G>A SNV
Germline		 Chr5:132579861 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Nijmegen breakage syndrome-like disorder
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA360935342 rs_1236278956

6 SubmittersRCV000570029RCV001783075RCV002271531
NM_000059.4(BRCA2):c.256C>T (p.Leu86=) SNV
Germline		 Chr13:32319265 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA483436136 rs_1555280404

3 SubmittersRCV000570115RCV002476213RCV002527979
NM_000059.4(BRCA2):c.68-5A>G SNV
Germline		 Chr13:32319072 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA658656327 rs_1555280326

3 SubmittersRCV000561594RCV001243342RCV004569147
NM_000059.4(BRCA2):c.81A>G (p.Ile27Met) SNV
Germline		 Chr13:32319090 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387754061 rs_1555280333

2 SubmittersRCV000562416RCV000637691
NM_000059.4(BRCA2):c.182T>C (p.Leu61Pro) SNV
Germline		 Chr13:32319191 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387754349 rs_1555280374

3 SubmittersRCV000561382RCV000804882
NM_000059.4(BRCA2):c.1277A>C (p.Lys426Thr) SNV
Germline		 Chr13:32332755 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387762411 rs_1421854019

5 SubmittersRCV000568483RCV000588909RCV000637322
NM_000059.4(BRCA2):c.1550A>T (p.Asn517Ile) SNV
Germline		 Chr13:32333028 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387764662 rs_80358439

3 SubmittersRCV000573079RCV001237084
NM_000059.4(BRCA2):c.1807A>G (p.Lys603Glu) SNV
Germline		 Chr13:32333285 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387765926 rs_1555282089

3 SubmittersRCV000571043RCV001224437
NM_000059.4(BRCA2):c.2044A>G (p.Ile682Val) SNV
Germline		 Chr13:32336399 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387768937 rs_398122738

3 SubmittersRCV000560974RCV001367308
NM_000059.4(BRCA2):c.2276T>C (p.Leu759Pro) SNV
Germline		 Chr13:32336631 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387771110 rs_1555282592

5 SubmittersRCV000568499RCV000985473RCV001209821
NM_000059.4(BRCA2):c.2282A>G (p.Tyr761Cys) SNV
Germline		 Chr13:32336637 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387771143 rs_879255443

7 SubmittersRCV000566368RCV000815303RCV001800775RCV003493654
NM_000059.4(BRCA2):c.793G>A (p.Gly265Arg) SNV
Germline		 Chr13:32331030 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387760269 rs_1403242422

5 SubmittersRCV000568539RCV000679189RCV001232619RCV003476318
NM_000059.4(BRCA2):c.2348T>C (p.Val783Ala) SNV
Germline		 Chr13:32336703 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940597 rs_768143929

5 SubmittersRCV000564881RCV000696795RCV003999529
NM_000059.4(BRCA2):c.812G>A (p.Gly271Glu) SNV
Germline		 Chr13:32332290 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387760394 rs_1247032180

5 SubmittersRCV000566757RCV000706930RCV001779011RCV004000927
NM_000059.4(BRCA2):c.2461G>A (p.Val821Ile) SNV
Germline		 Chr13:32336816 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940607 rs_756411508

7 SubmittersRCV000564932RCV000590888RCV001354575
NM_000059.4(BRCA2):c.2596G>A (p.Glu866Lys) SNV
Germline		 Chr13:32336951 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387772620 rs_864622476

4 SubmittersRCV000570600RCV001109532RCV001109533RCV001867857
NM_000059.4(BRCA2):c.842A>G (p.Asp281Gly) SNV
Germline		 Chr13:32332320 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387760501 rs_1555281610

4 SubmittersRCV000561981RCV001858184RCV003476329
NM_000059.4(BRCA2):c.995T>A (p.Ile332Asn) SNV
Germline		 Chr13:32332473 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387761017 rs_1555281682

4 SubmittersRCV000563072RCV000814918
NM_000059.4(BRCA2):c.1134T>A (p.Ser378Arg) SNV
Germline		 Chr13:32332612 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387761753 rs_1555281748

4 SubmittersRCV000565338RCV001042138RCV001800784
NM_000059.4(BRCA2):c.2804A>G (p.Asp935Gly) SNV
Germline		 Chr13:32337159 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387773751 rs_1555282864

3 SubmittersRCV000566429RCV002530250
NM_000059.4(BRCA2):c.1262A>G (p.Gln421Arg) SNV
Germline		 Chr13:32332740 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387762331 rs_1555281798

3 SubmittersRCV000572339RCV001297331
NM_000059.4(BRCA2):c.1457A>C (p.Gln486Pro) SNV
Germline		 Chr13:32332935 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387764356 rs_757735681

3 SubmittersRCV000564559RCV000799407
NM_000059.4(BRCA2):c.1509G>C (p.Lys503Asn) SNV
Germline		 Chr13:32332987 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387764517 rs_1555281928

3 SubmittersRCV000566446RCV003645050
NM_000059.4(BRCA2):c.1510T>A (p.Ser504Thr) SNV
Germline		 Chr13:32332988 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387764521 rs_786203006

3 SubmittersRCV000564138RCV000793608
NM_000059.4(BRCA2):c.2812G>A (p.Ala938Thr) SNV
Germline		 Chr13:32337167 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940631 rs_768556548

4 SubmittersRCV000574545RCV001219024RCV002461367
NM_000059.4(BRCA2):c.2821G>C (p.Val941Leu) SNV
Germline		 Chr13:32337176 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387773793 rs_863224586

3 SubmittersRCV000568314RCV001858085
NM_000059.4(BRCA2):c.3064C>T (p.His1022Tyr) SNV
Germline		 Chr13:32337419 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940658 rs_765882871

4 SubmittersRCV000568287RCV001223508
NM_000059.4(BRCA2):c.3084A>C (p.Lys1028Asn) SNV
Germline		 Chr13:32337439 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387775232 rs_1555283043

3 SubmittersRCV000561379RCV001203943
NM_000059.4(BRCA2):c.3128C>G (p.Ala1043Gly) SNV
Germline		 Chr13:32337483 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387775722 rs_1555283059

4 SubmittersRCV000573287RCV000684881RCV004000935
NM_000059.4(BRCA2):c.1940G>A (p.Cys647Tyr) SNV
Germline		 Chr13:32336295 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387768359 rs_1555282368

5 SubmittersRCV000575462RCV000759583RCV000814757
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter) SNV
Germline		 Chr13:32337740 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387776436 rs_1555283209

5 SubmittersRCV000573112RCV000657682RCV000587755
NM_000059.4(BRCA2):c.3398C>T (p.Pro1133Leu) SNV
Germline		 Chr13:32337753 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387776467 rs_1170876773

3 SubmittersRCV000565144RCV001858185
NM_000059.4(BRCA2):c.3521G>A (p.Gly1174Asp) SNV
Germline		 Chr13:32337876 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387777051 rs_1555283272

4 SubmittersRCV000561139RCV000637583RCV003607303
NM_000059.4(BRCA2):c.2215C>G (p.His739Asp) SNV
Germline		 Chr13:32336570 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387770616 rs_1555282536

3 SubmittersRCV000565578RCV003530079
NM_000059.4(BRCA2):c.3664G>T (p.Ala1222Ser) SNV
Germline		 Chr13:32338019 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387777981 rs_1555283343

5 SubmittersRCV000572943RCV001283922RCV001361301
NM_000059.4(BRCA2):c.3788G>A (p.Ser1263Asn) SNV
Germline		 Chr13:32338143 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387778357 rs_1555283398

3 SubmittersRCV000566753RCV000701605
NM_000059.4(BRCA2):c.2240A>C (p.Glu747Ala) SNV
Germline		 Chr13:32336595 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387770814 rs_397507283

3 SubmittersRCV000572016RCV002527977
NM_000059.4(BRCA2):c.3832C>A (p.His1278Asn) SNV
Germline		 Chr13:32338187 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387778536 rs_1555283417

3 SubmittersRCV000568189RCV000803223
NM_000059.4(BRCA2):c.3905C>T (p.Thr1302Ile) SNV
Germline		 Chr13:32338260 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA247506143 rs_80358634

5 SubmittersRCV000573175RCV000637448RCV003478202
NM_000059.4(BRCA2):c.4150T>A (p.Leu1384Met) SNV
Germline		 Chr13:32338505 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940755 rs_779408742

4 SubmittersRCV000572775RCV000637416
NM_000059.4(BRCA2):c.4253T>C (p.Ile1418Thr) SNV
Germline		 Chr13:32338608 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940764 rs_754119978

4 SubmittersRCV000573134RCV002530304
NM_000059.4(BRCA2):c.2396A>G (p.Lys799Arg) SNV
Germline		 Chr13:32336751 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387771943 rs_1555282656

6 SubmittersRCV000571372RCV000769685RCV000802457RCV002476223
NM_000059.4(BRCA2):c.2447A>G (p.Glu816Gly) SNV
Germline		 Chr13:32336802 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387772261 rs_1555282673

3 SubmittersRCV000562111RCV003645052
NM_000059.4(BRCA2):c.4652A>G (p.Gln1551Arg) SNV
Germline		 Chr13:32339007 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387782194 rs_1391223943

6 SubmittersRCV000566456RCV001221970RCV003451240
NM_000059.4(BRCA2):c.2456A>G (p.Gln819Arg) SNV
Germline		 Chr13:32336811 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387772305 rs_1555282683

3 SubmittersRCV000561854RCV001858186
NM_000059.4(BRCA2):c.4808A>T (p.Asn1603Ile) SNV
Germline		 Chr13:32339163 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA247508443 rs_890665355

6 SubmittersRCV000563820RCV000989032RCV000709312RCV001283926
NM_000059.4(BRCA2):c.4987G>A (p.Val1663Ile) SNV
Germline		 Chr13:32339342 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA387783882 rs_587781763

6 SubmittersRCV000574969RCV000704315RCV003234781RCV003323619
NM_000059.4(BRCA2):c.2793A>C (p.Gly931=) SNV
Germline		 Chr13:32337148 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA483437420 rs_786201315

5 SubmittersRCV000565459RCV000586053RCV000920539
NM_000059.4(BRCA2):c.5579A>G (p.Lys1860Arg) SNV
Germline		 Chr13:32339934 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387786012 rs_1555284280

4 SubmittersRCV000571620RCV002307546RCV002526774
NM_000059.4(BRCA2):c.2953A>G (p.Lys985Glu) SNV
Germline		 Chr13:32337308 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387774387 rs_1555282970

3 SubmittersRCV000566817RCV003645028
NM_000059.4(BRCA2):c.5609T>G (p.Phe1870Cys) SNV
Germline		 Chr13:32339964 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387786080 rs_1135401908

3 SubmittersRCV000562493RCV001858084
NM_000059.4(BRCA2):c.3012T>G (p.Ser1004Arg) SNV
Germline		 Chr13:32337367 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387774760 rs_1555283009

4 SubmittersRCV000571330RCV001312879
NM_000059.4(BRCA2):c.6088A>G (p.Asn2030Asp) SNV
Germline		 Chr13:32340443 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387788047 rs_1555284539

4 SubmittersRCV000574021RCV000696990RCV003226326
NM_000059.4(BRCA2):c.6094G>T (p.Ala2032Ser) SNV
Germline		 Chr13:32340449 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387788071 rs_786203284

3 SubmittersRCV000565512RCV002530334
NM_000059.4(BRCA2):c.6158C>A (p.Ser2053Tyr) SNV
Germline		 Chr13:32340513 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387788311 rs_1555284574

4 SubmittersRCV000564414RCV000759633RCV001858080
NM_000059.4(BRCA2):c.6170G>A (p.Gly2057Glu) SNV
Germline		 Chr13:32340525 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387788356 rs_876660308

4 SubmittersRCV000568900RCV002528119RCV004001020
NM_000059.4(BRCA2):c.3180C>G (p.Ser1060Arg) SNV
Germline		 Chr13:32337535 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387775826 rs_786203536

3 SubmittersRCV000568485RCV001211903
NM_000059.4(BRCA2):c.6623A>G (p.Asn2208Ser) SNV
Germline		 Chr13:32340978 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940971 rs_767110818

4 SubmittersRCV000563501RCV001066486
NM_000059.4(BRCA2):c.3387G>T (p.Gln1129His) SNV
Germline		 Chr13:32337742 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387776441 rs_1555283211

3 SubmittersRCV000569133RCV001372772
NM_000059.4(BRCA2):c.6778G>A (p.Glu2260Lys) SNV
Germline		 Chr13:32341133 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387791252 rs_1555284853

3 SubmittersRCV000573696RCV001248161
NM_000059.4(BRCA2):c.6827C>A (p.Pro2276His) SNV
Germline		 Chr13:32341182 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940989 rs_748541466

8 SubmittersRCV000566942RCV001526954RCV001550563RCV001858154RCV004000912
NM_000059.4(BRCA2):c.3706A>G (p.Lys1236Glu) SNV
Germline		 Chr13:32338061 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387778057 rs_1555283367

4 SubmittersRCV000564778RCV001853764
NM_000059.4(BRCA2):c.3808G>T (p.Val1270Phe) SNV
Germline		 Chr13:32338163 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387778441 rs_876658938

3 SubmittersRCV000563060RCV002528117
NM_000059.4(BRCA2):c.3822G>A (p.Lys1274=) SNV
Germline		 Chr13:32338177 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA483437963 rs_1555283410

6 SubmittersRCV000563441RCV000590381RCV001333164RCV001402026RCV001565197
NM_000059.4(BRCA2):c.4280T>A (p.Phe1427Tyr) SNV
Germline		 Chr13:32338635 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387780608 rs_886463005

3 SubmittersRCV000574875RCV001345552
NM_000059.4(BRCA2):c.91T>G (p.Trp31Gly) SNV
Germline		 Chr13:32319100 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387754107 rs_80359182

5 SubmittersRCV000568041RCV000759687RCV001215898RCV003330801RCV004000929
NM_000059.4(BRCA2):c.332A>G (p.Asn111Ser) SNV
Germline		 Chr13:32325091 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387756537 rs_1555280840

2 SubmittersRCV000569068RCV001867858
NM_000059.4(BRCA2):c.4649A>C (p.Glu1550Ala) SNV
Germline		 Chr13:32339004 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387782183 rs_876660887

3 SubmittersRCV000568464RCV001858265
NM_000059.4(BRCA2):c.5039C>A (p.Ser1680Tyr) SNV
Germline		 Chr13:32339394 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387783999 rs_1555284041

5 SubmittersRCV000574179RCV000589794RCV003767095
NM_000059.4(BRCA2):c.5110A>G (p.Arg1704Gly) SNV
Germline		 Chr13:32339465 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387784136 rs_1064795652

4 SubmittersRCV000566771RCV003645027
NM_000059.4(BRCA2):c.793+1G>C SNV
Germline		 Chr13:32331031 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387760275 rs_81002846

3 SubmittersRCV000573440RCV000576675RCV000794282
NM_000059.4(BRCA2):c.905C>T (p.Thr302Ile) SNV
Germline		 Chr13:32332383 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387760688 rs_80359158

4 SubmittersRCV000567016RCV000707301
NM_000059.4(BRCA2):c.1217C>G (p.Ala406Gly) SNV
Germline		 Chr13:32332695 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA247496852 rs_1005568368

7 SubmittersRCV000565726RCV000589717RCV001037283RCV004001011
NM_000059.4(BRCA2):c.5245T>G (p.Tyr1749Asp) SNV
Germline		 Chr13:32339600 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387784692 rs_876658731

3 SubmittersRCV000564773RCV003645044
NM_000059.4(BRCA2):c.5284T>G (p.Tyr1762Asp) SNV
Germline		 Chr13:32339639 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387784769 rs_1192019733

9 SubmittersRCV000575439RCV000706689RCV000989039RCV001284427
NM_000059.4(BRCA2):c.7787G>T (p.Gly2596Val) SNV
Germline		 Chr13:32357911 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387746014 rs_1064795140

3 SubmittersRCV000570320RCV001858271RCV003234784
NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly) SNV
Germline		 Chr13:32357920 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387746086 rs_780715340

4 SubmittersRCV000562312RCV000637780RCV002268186
NM_000059.4(BRCA2):c.5500A>G (p.Ser1834Gly) SNV
Germline		 Chr13:32339855 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940880 rs_760602053

4 SubmittersRCV000570636RCV000799159
NM_000059.4(BRCA2):c.5551A>T (p.Ile1851Phe) SNV
Germline		 Chr13:32339906 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387785957 rs_1555284265

3 SubmittersRCV000570605RCV001213951
NM_000059.4(BRCA2):c.1408G>A (p.Glu470Lys) SNV
Germline		 Chr13:32332886 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387764178 rs_1555281898

3 SubmittersRCV000570896RCV001240390
NM_000059.4(BRCA2):c.5629A>G (p.Asn1877Asp) SNV
Germline		 Chr13:32339984 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387786121 rs_1555284317

4 SubmittersRCV000562707RCV001591320RCV002527978
NM_000059.4(BRCA2):c.5789T>C (p.Leu1930Ser) SNV
Germline		 Chr13:32340144 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387787167 rs_397507805

3 SubmittersRCV000566221RCV001360314
NM_000059.4(BRCA2):c.1547T>A (p.Phe516Tyr) SNV
Germline		 Chr13:32333025 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940524 rs_768641298

3 SubmittersRCV000571171RCV001867881
NM_000059.4(BRCA2):c.5923T>C (p.Cys1975Arg) SNV
Germline		 Chr13:32340278 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387787537 rs_1555284462

3 SubmittersRCV000568115RCV001858083
NM_000059.4(BRCA2):c.5924G>A (p.Cys1975Tyr) SNV
Germline		 Chr13:32340279 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387787539 rs_767378196

6 SubmittersRCV000571254RCV001359518RCV003329310RCV004024480
NM_000059.4(BRCA2):c.2149T>G (p.Cys717Gly) SNV
Germline		 Chr13:32336504 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387770180 rs_1555282483

5 SubmittersRCV000575188RCV001563452RCV001858267
NM_000059.4(BRCA2):c.5996T>A (p.Val1999Glu) SNV
Germline		 Chr13:32340351 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387787667 rs_1555284494

3 SubmittersRCV000563619RCV003645038
NM_000059.4(BRCA2):c.8267C>G (p.Ala2756Gly) SNV
Germline		 Chr13:32363469 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387750021 rs_1555287069

3 SubmittersRCV000571440RCV001764659RCV002528115
NM_000059.4(BRCA2):c.2197G>T (p.Val733Phe) SNV
Germline		 Chr13:32336552 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387770484 rs_876658303

3 SubmittersRCV000576121RCV001858268
NM_000059.4(BRCA2):c.2244C>G (p.Tyr748Ter) SNV
Germline		 Chr13:32336599 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387770853 rs_1555282563

3 SubmittersRCV000569671RCV001283915RCV001389997
NM_000059.4(BRCA2):c.6121T>A (p.Ser2041Thr) SNV
Germline		 Chr13:32340476 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387788163 rs_1160083526

7 SubmittersRCV000575027RCV000808364RCV002250658RCV002509439RCV004000831
NM_000059.4(BRCA2):c.2321C>T (p.Thr774Ile) SNV
Germline		 Chr13:32336676 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387771456 rs_1239876081

5 SubmittersRCV000562056RCV001206256RCV002248789
NM_000059.4(BRCA2):c.6121T>C (p.Ser2041Pro) SNV
Germline		 Chr13:32340476 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387788165 rs_1160083526

6 SubmittersRCV000572108RCV000813354RCV001193886RCV001775881RCV004000832
NM_000059.4(BRCA2):c.2451G>T (p.Lys817Asn) SNV
Germline		 Chr13:32336806 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940605 rs_767686668

6 SubmittersRCV000569494RCV000781098RCV000758875RCV001307982
NM_000059.4(BRCA2):c.2452A>C (p.Asn818His) SNV
Germline		 Chr13:32336807 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6940606 rs_750667529

5 SubmittersRCV000571789RCV001368851RCV001821672
NM_000059.4(BRCA2):c.6554C>T (p.Ala2185Val) SNV
Germline		 Chr13:32340909 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA247514034 rs_980859921

8 SubmittersRCV000574498RCV000709328RCV000989053RCV004527661
NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe) SNV
Germline		 Chr13:32370522 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387752584 rs_80359094

8 SubmittersRCV000566230RCV001320393RCV001821668RCV003227793RCV003234782
NM_000059.4(BRCA2):c.2519T>C (p.Met840Thr) SNV
Germline		 Chr13:32336874 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940610 rs_758009637

5 SubmittersRCV000564018RCV000694649RCV004000926
NM_000059.4(BRCA2):c.8633-3T>G SNV
Germline		 Chr13:32376667 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA609092852 rs_1283205861

2 SubmittersRCV000570857RCV000637389
NM_000059.4(BRCA2):c.2648T>C (p.Phe883Ser) SNV
Germline		 Chr13:32337003 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387773290 rs_1555282770

3 SubmittersRCV000575458RCV001858086
NM_000059.4(BRCA2):c.6619A>G (p.Thr2207Ala) SNV
Germline		 Chr13:32340974 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16622064 rs_1555284772

4 SubmittersRCV000574573RCV001345669RCV002272286
NM_000059.4(BRCA2):c.8755-4A>G SNV
Germline		 Chr13:32379313 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658656400 rs_1555288363

2 SubmittersRCV000564095RCV002060459
NM_000059.4(BRCA2):c.2870A>G (p.Asn957Ser) SNV
Germline		 Chr13:32337225 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387774021 rs_1555282918

4 SubmittersRCV000566925RCV000799838
NM_000059.4(BRCA2):c.2922C>G (p.Asp974Glu) SNV
Germline		 Chr13:32337277 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA247503315 rs_929538989

6 SubmittersRCV000560988RCV000779991RCV001038891RCV003478203
NM_000059.4(BRCA2):c.9037A>G (p.Thr3013Ala) SNV
Germline		 Chr13:32379833 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387757515 rs_1555288470

4 SubmittersRCV000570012RCV001375531RCV002298665RCV003318596
NM_000059.4(BRCA2):c.3368G>A (p.Ser1123Asn) SNV
Germline		 Chr13:32337723 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387776393 rs_1555283202

4 SubmittersRCV000572509RCV001054565RCV001358197
NM_000059.4(BRCA2):c.9147C>G (p.Tyr3049Ter) SNV
Germline		 Chr13:32380036 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387757888 rs_886040823

4 SubmittersRCV000564771RCV001858183RCV003459319
NM_000059.4(BRCA2):c.3691A>T (p.Thr1231Ser) SNV
Germline		 Chr13:32338046 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387778030 rs_1555283363

3 SubmittersRCV000573243RCV001858161
NM_000059.4(BRCA2):c.3800A>G (p.Asp1267Gly) SNV
Germline		 Chr13:32338155 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387778411 rs_1555283400

5 SubmittersRCV000574675RCV000700360RCV002261125RCV004000913
NM_000059.4(BRCA2):c.9521A>G (p.Asn3174Ser) SNV
Germline		 Chr13:32396917 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA387762989 rs_1555289773

5 SubmittersRCV000571672RCV000709342RCV000989090RCV001002292
NM_000059.4(BRCA2):c.3941A>G (p.Lys1314Arg) SNV
Germline		 Chr13:32338296 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387778872 rs_1344698119

5 SubmittersRCV000567669RCV001299283RCV001800762
NM_000059.4(BRCA2):c.4113G>T (p.Gln1371His) SNV
Germline		 Chr13:32338468 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387779299 rs_1555283563

3 SubmittersRCV000566570RCV001358851
NM_000059.4(BRCA2):c.4390T>G (p.Ser1464Ala) SNV
Germline		 Chr13:32338745 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387781088 rs_1555283760

3 SubmittersRCV000561437RCV001052613
NM_000059.4(BRCA2):c.4400A>G (p.His1467Arg) SNV
Germline		 Chr13:32338755 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387781132 rs_1555283765

3 SubmittersRCV000576022RCV000807376
NM_000059.4(BRCA2):c.4447A>G (p.Thr1483Ala) SNV
Germline		 Chr13:32338802 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387781364 rs_1555283789

3 SubmittersRCV000570051RCV003645042
NM_000059.4(BRCA2):c.4462C>T (p.His1488Tyr) SNV
Germline		 Chr13:32338817 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387781418 rs_1555283795

3 SubmittersRCV000637316RCV000576055
NM_000059.4(BRCA2):c.5062G>A (p.Glu1688Lys) SNV
Germline		 Chr13:32339417 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387784041 rs_1555284052

4 SubmittersRCV000573634RCV001065242RCV004000930
NM_000059.4(BRCA2):c.8633-5C>G SNV
Germline		 Chr13:32376665 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658656392 rs_1555288114

3 SubmittersRCV000568865RCV000985606RCV001858269
NM_000059.4(BRCA2):c.5285A>G (p.Tyr1762Cys) SNV
Germline		 Chr13:32339640 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387784770 rs_80358753

5 SubmittersRCV000567861RCV000818067RCV001821673
NM_000059.4(BRCA2):c.5437C>A (p.Leu1813Ile) SNV
Germline		 Chr13:32339792 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387785511 rs_1555284228

5 SubmittersRCV000563793RCV001359184RCV003313106
NM_000059.4(BRCA2):c.5462A>G (p.Lys1821Arg) SNV
Germline		 Chr13:32339817 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387785647 rs_1555284238

3 SubmittersRCV000571216RCV003645043
NM_000059.4(BRCA2):c.5695G>A (p.Asp1899Asn) SNV
Germline		 Chr13:32340050 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940897 rs_371189402

5 SubmittersRCV000574011RCV001039196RCV001755941
NM_000059.4(BRCA2):c.5719T>G (p.Ser1907Ala) SNV
Germline		 Chr13:32340074 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940899 rs_753445027

3 SubmittersRCV000561520RCV001232076
NM_000059.4(BRCA2):c.5867A>T (p.Asp1956Val) SNV
Germline		 Chr13:32340222 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387787428 rs_1309562690

6 SubmittersRCV000563256RCV000637411RCV001584383
NM_000059.4(BRCA2):c.9193T>G (p.Phe3065Val) SNV
Germline		 Chr13:32380082 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387758213 rs_1555288546

2 SubmittersRCV000567520RCV003645026
NM_000059.4(BRCA2):c.6313A>C (p.Ile2105Leu) SNV
Germline		 Chr13:32340668 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387789051 rs_397507368

3 SubmittersRCV000574796RCV000705138
NM_000059.4(BRCA2):c.9310A>T (p.Lys3104Ter) SNV
Germline		 Chr13:32394742 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387760919 rs_1555289521

2 SubmittersRCV000574188RCV001064553
NM_000059.4(BRCA2):c.6448A>C (p.Lys2150Gln) SNV
Germline		 Chr13:32340803 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387789324 rs_1403648108

7 SubmittersRCV000565008RCV000662567RCV001724066RCV001858157
NM_000059.4(BRCA2):c.6496G>T (p.Val2166Leu) SNV
Germline		 Chr13:32340851 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940964 rs_750084851

5 SubmittersRCV000566050RCV000686167RCV004000925
NM_000059.4(BRCA2):c.6506C>T (p.Thr2169Ile) SNV
Germline		 Chr13:32340861 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387789560 rs_1555284726

4 SubmittersRCV000570270RCV000807789
NM_000059.4(BRCA2):c.6553G>C (p.Ala2185Pro) SNV
Germline		 Chr13:32340908 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387789803 rs_746070652

8 SubmittersRCV000576075RCV000759644RCV001340607RCV001821657
NM_000059.4(BRCA2):c.6646T>G (p.Ser2216Ala) SNV
Germline		 Chr13:32341001 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA247514266 rs_918816907

5 SubmittersRCV000568247RCV000699985RCV001824830
NM_000059.4(BRCA2):c.6650A>G (p.Lys2217Arg) SNV
Germline		 Chr13:32341005 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387790393 rs_1555284781

3 SubmittersRCV000575587RCV001318547
NM_000059.4(BRCA2):c.6712G>A (p.Asp2238Asn) SNV
Germline		 Chr13:32341067 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940976 rs_749590229

3 SubmittersRCV000564862RCV000700666
NM_000059.4(BRCA2):c.793+5G>A SNV
Germline		 Chr13:32331035 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940442 rs_779282053

2 SubmittersRCV000572419RCV000700583
NM_000059.4(BRCA2):c.1022G>A (p.Cys341Tyr) SNV
Germline		 Chr13:32332500 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387761127 rs_80358403

5 SubmittersRCV000575372RCV001230162RCV003441951RCV004001012
NM_000059.4(BRCA2):c.7121A>G (p.Asn2374Ser) SNV
Germline		 Chr13:32354974 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387738734 rs_1379054137

6 SubmittersRCV000575236RCV000804735RCV001591321RCV003233747
NM_000059.4(BRCA2):c.1196C>A (p.Thr399Asn) SNV
Germline		 Chr13:32332674 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387762043 rs_1555281772

3 SubmittersRCV000564758RCV003645025
NM_000059.4(BRCA2):c.7435+4T>A SNV
Germline		 Chr13:32355292 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658656423 rs_1555286131

2 SubmittersRCV000570194RCV001858263
NM_000059.4(BRCA2):c.7472A>G (p.Gln2491Arg) SNV
Germline		 Chr13:32356464 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA247469683 rs_185012573

4 SubmittersRCV000567018RCV000819102RCV000781138RCV003328599
NM_000059.4(BRCA2):c.1628A>G (p.His543Arg) SNV
Germline		 Chr13:32333106 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387764922 rs_1555281992

3 SubmittersRCV000570456RCV000691387
NM_000059.4(BRCA2):c.7524C>T (p.Gly2508=) SNV
Germline		 Chr13:32356516 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA483260392 rs_1555286266

4 SubmittersRCV000572246RCV000637482RCV003483674RCV003311851
NM_000059.4(BRCA2):c.1741T>C (p.Ser581Pro) SNV
Germline		 Chr13:32333219 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA247498087 rs_55667299

4 SubmittersRCV000572100RCV001072032RCV003999534
NM_000059.4(BRCA2):c.7570A>T (p.Lys2524Ter) SNV
Germline		 Chr13:32356562 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387743779 rs_1555286291

2 SubmittersRCV000561996RCV002265800
NM_000059.4(BRCA2):c.1991G>C (p.Gly664Ala) SNV
Germline		 Chr13:32336346 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387768655 rs_1555282391

3 SubmittersRCV000575118RCV001224116
NM_000059.4(BRCA2):c.2543A>G (p.Lys848Arg) SNV
Germline		 Chr13:32336898 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387772508 rs_1555282739

3 SubmittersRCV000570148RCV001315218
NM_000059.4(BRCA2):c.2893A>G (p.Met965Val) SNV
Germline		 Chr13:32337248 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387774131 rs_1555282927

3 SubmittersRCV000568564RCV000637340
NM_000059.4(BRCA2):c.2918C>G (p.Ser973Trp) SNV
Germline		 Chr13:32337273 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387774206 rs_397507296

4 SubmittersRCV000569352RCV001231889RCV003234563
NM_000059.4(BRCA2):c.8375T>G (p.Leu2792Arg) SNV
Germline		 Chr13:32370445 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387752450 rs_28897751

2 SubmittersRCV000561173RCV001219386
NM_000059.4(BRCA2):c.8407C>T (p.Leu2803=) SNV
Germline		 Chr13:32370477 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA483261212 rs_1555287631

6 SubmittersRCV000561149RCV000604881RCV001483422RCV003478249RCV004001017
NM_000059.4(BRCA2):c.8554G>A (p.Ala2852Thr) SNV
Germline		 Chr13:32371022 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387752784 rs_1555287769

3 SubmittersRCV000570948RCV001297064
NM_000059.4(BRCA2):c.9377A>C (p.Gln3126Pro) SNV
Germline		 Chr13:32394809 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387761238 rs_397507426

3 SubmittersRCV000562173RCV001045140RCV003459346
NM_000059.4(BRCA2):c.9531A>G (p.Glu3177=) SNV
Germline		 Chr13:32396927 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA483271601 rs_1555289774

3 SubmittersRCV000564601RCV000758979RCV002060390
NM_000059.4(BRCA2):c.9573G>C (p.Trp3191Cys) SNV
Germline		 Chr13:32396969 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387763366 rs_398122617

2 SubmittersRCV000570986RCV003645037
NM_000059.4(BRCA2):c.3106G>A (p.Glu1036Lys) SNV
Germline		 Chr13:32337461 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387775375 rs_1060502449

4 SubmittersRCV000566916RCV003441945RCV003645039
NM_000059.4(BRCA2):c.3134T>C (p.Val1045Ala) SNV
Germline		 Chr13:32337489 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387775735 rs_1555283061

3 SubmittersRCV000568190RCV002298673
NM_000059.4(BRCA2):c.3343T>C (p.Ser1115Pro) SNV
Germline		 Chr13:32337698 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387776321 rs_1204868565

6 SubmittersRCV000567148RCV001038261RCV001509438RCV004000928
NM_000059.4(BRCA2):c.3971A>G (p.Tyr1324Cys) SNV
Germline		 Chr13:32338326 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387778934 rs_1486461236

3 SubmittersRCV000568991RCV001345508
NM_000059.4(BRCA2):c.4106C>T (p.Ser1369Phe) SNV
Germline		 Chr13:32338461 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387779280 rs_1555283554

3 SubmittersRCV000561231RCV000816953
NM_000059.4(BRCA2):c.4137G>T (p.Gln1379His) SNV
Germline		 Chr13:32338492 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387779399 rs_768918982

4 SubmittersRCV000573009RCV001362913
NM_000059.4(BRCA2):c.4405G>A (p.Asp1469Asn) SNV
Germline		 Chr13:32338760 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387781153 rs_1555283770

3 SubmittersRCV000569976RCV001867882
NM_000059.4(BRCA2):c.4543A>G (p.Lys1515Glu) SNV
Germline		 Chr13:32338898 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387781755 rs_1555283834

4 SubmittersRCV000574586RCV000637547
NM_000059.4(BRCA2):c.4888T>C (p.Ser1630Pro) SNV
Germline		 Chr13:32339243 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387783515 rs_1555283977

3 SubmittersRCV000561809RCV001063299
NM_000059.4(BRCA2):c.5202A>C (p.Glu1734Asp) SNV
Germline		 Chr13:32339557 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387784594 rs_1243093278

6 SubmittersRCV000637330RCV000575961RCV001557187
NM_000059.4(BRCA2):c.5515G>A (p.Val1839Ile) SNV
Germline		 Chr13:32339870 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940881 rs_776630512

3 SubmittersRCV000574973RCV000637668
NM_000059.4(BRCA2):c.5533A>G (p.Arg1845Gly) SNV
Germline		 Chr13:32339888 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387785921 rs_1294545669

5 SubmittersRCV000561760RCV000806176RCV003478250RCV004001018
NM_000059.4(BRCA2):c.5578A>G (p.Lys1860Glu) SNV
Germline		 Chr13:32339933 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387786009 rs_431825332

4 SubmittersRCV000573798RCV000637562
NM_000059.4(BRCA2):c.6100C>A (p.Arg2034Ser) SNV
Germline		 Chr13:32340455 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387788089 rs_1799954

4 SubmittersRCV000565684RCV001348335RCV001800763
NM_000059.4(BRCA2):c.6298C>A (p.Gln2100Lys) SNV
Germline		 Chr13:32340653 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940941 rs_746661607

4 SubmittersRCV000566896RCV000637615RCV002508231
NM_000059.4(BRCA2):c.6301A>C (p.Asn2101His) SNV
Germline		 Chr13:32340656 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387789027 rs_1430866716

4 SubmittersRCV000565803RCV001208948
NM_000059.4(BRCA2):c.6715G>C (p.Glu2239Gln) SNV
Germline		 Chr13:32341070 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387791014 rs_276174876

4 SubmittersRCV000573449RCV003645049
NM_000059.4(BRCA2):c.7618-5T>C SNV
Germline		 Chr13:32357737 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA609453901 rs_1356264344

2 SubmittersRCV000564779RCV000944430
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter) SNV
Germline		 Chr16:23629936 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395125558 rs_1555460445

7 SubmittersRCV000567438RCV000587693RCV000989559RCV003318598
NM_000059.4(BRCA2):c.8164A>G (p.Thr2722Ala) SNV
Germline		 Chr13:32363366 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387749574 rs_1555287019

2 SubmittersRCV000561836RCV001213108
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn) SNV
Germline		 Chr13:32363369 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387749585 rs_41293511

5 SubmittersRCV000570332RCV001234934
NM_000059.4(BRCA2):c.8527A>C (p.Asn2843His) SNV
Germline		 Chr13:32370995 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387752728 rs_876660403

4 SubmittersRCV000573644RCV003530073RCV004569148
NM_000059.4(BRCA2):c.9873T>C (p.Ser3291=) SNV
Germline		 Chr13:32398386 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA483440209 rs_1555289984

3 SubmittersRCV000562898RCV002060431RCV003478232
NM_024675.4(PALB2):c.682C>T (p.Gln228Ter) SNV
Germline		 Chr16:23635864 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Reviewed By Expert Panel
 CA395136420 rs_1327399690

5 SubmittersRCV000573011RCV000635756RCV003987611
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter) SNV
Germline		 Chr16:23614075 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395141418 rs_766394024

5 SubmittersRCV000565870RCV000700246RCV003155951
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter) SNV
Germline		 Chr16:23629642 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395123923 rs_750650768

6 SubmittersRCV000561038RCV001053672RCV001553686
NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter) SNV
Germline		 Chr17:35103466 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8499397 rs_771007945

6 SubmittersRCV000561581RCV000576488RCV002298684RCV001268531
NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter) SNV
Germline		 Chr17:35103472 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8499398 rs_775365939

5 SubmittersRCV000566778RCV000576697RCV002298685RCV001268532
NM_007294.4(BRCA1):c.4987-1G>C SNV
Germline		 Chr17:43067696 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10591546 rs_730881495

3 SubmittersRCV000569777RCV001072943RCV001383012
NM_007294.4(BRCA1):c.5538G>C (p.Gln1846His) SNV
Germline		 Chr17:43045732 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA055269 rs_80356849

5 SubmittersRCV000569232RCV001076369RCV001858257
NM_007294.4(BRCA1):c.5404A>C (p.Thr1802Pro) SNV
Germline		 Chr17:43049123 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10590671 rs_1555575080

3 SubmittersRCV000569981RCV001076869RCV002528974
NM_007294.4(BRCA1):c.5111T>A (p.Phe1704Tyr) SNV
Germline		 Chr17:43063915 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10591308 rs_1555578598

4 SubmittersRCV000569177RCV001072271RCV001320061
NM_007294.4(BRCA1):c.4027G>T (p.Asp1343Tyr) SNV
Germline		 Chr17:43091504 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10593904 rs_1160287128

4 SubmittersRCV000561337RCV000699500
NM_007294.4(BRCA1):c.3889T>A (p.Ser1297Thr) SNV
Germline		 Chr17:43091642 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10594184 rs_1450793674

7 SubmittersRCV000574192RCV000694539RCV000589904RCV004000921
NM_007294.4(BRCA1):c.3632C>G (p.Ser1211Cys) SNV
Germline		 Chr17:43091899 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10594703 rs_1555587377

4 SubmittersRCV000570153RCV000706771RCV002307545
NM_007294.4(BRCA1):c.3508A>G (p.Ile1170Val) SNV
Germline		 Chr17:43092023 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10594954 rs_273899708

3 SubmittersRCV000568795RCV002527973
NM_007294.4(BRCA1):c.3383T>C (p.Leu1128Pro) SNV
Germline		 Chr17:43092148 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10595211 rs_1555587827

4 SubmittersRCV000573145RCV000812453
NM_007294.4(BRCA1):c.3339T>C (p.Tyr1113=) SNV
Germline		 Chr17:43092192 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA500232628 rs_80357421

3 SubmittersRCV000573732RCV002526905RCV003478278
NM_007294.4(BRCA1):c.3181A>C (p.Ile1061Leu) SNV
Germline		 Chr17:43092350 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10595625 rs_876658975

3 SubmittersRCV000575249RCV001867879
NM_007294.4(BRCA1):c.2747A>G (p.Asn916Ser) SNV
Germline		 Chr17:43092784 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10596495 rs_864622588

3 SubmittersRCV000567983RCV002528113
NM_007294.4(BRCA1):c.2587G>A (p.Val863Ile) SNV
Germline		 Chr17:43092944 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10596816 rs_1555589325

4 SubmittersRCV000569809RCV000758800RCV001229667
NM_007294.4(BRCA1):c.4352A>G (p.Glu1451Gly) SNV
Germline		 Chr17:43082409 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10593019 rs_949793708

4 SubmittersRCV000563313RCV000637803RCV001124850
NM_007294.4(BRCA1):c.5564T>C (p.Ile1855Thr) SNV
Germline		 Chr17:43045706 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10590196 rs_900082291

3 SubmittersRCV000567198RCV001316745RCV001077623
NM_007294.4(BRCA1):c.3889T>C (p.Ser1297Pro) SNV
Germline		 Chr17:43091642 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10594183 rs_1450793674

5 SubmittersRCV000569497RCV003151790RCV002526772RCV003999525
NM_007294.4(BRCA1):c.2227A>C (p.Asn743His) SNV
Germline		 Chr17:43093304 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10597547 rs_1212635015

3 SubmittersRCV000575370RCV001296814
NM_007294.4(BRCA1):c.5023A>G (p.Thr1675Ala) SNV
Germline		 Chr17:43067659 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10591468 rs_774452090

3 SubmittersRCV000573938RCV001076254RCV003645046
NM_007294.4(BRCA1):c.2135G>T (p.Cys712Phe) SNV
Germline		 Chr17:43093396 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10597733 rs_1555590395

3 SubmittersRCV000570229RCV000696958
NM_007294.4(BRCA1):c.4993G>C (p.Val1665Leu) SNV
Germline		 Chr17:43067689 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10591533 rs_80357169

4 SubmittersRCV000574073RCV001858075RCV001077898
NM_007294.4(BRCA1):c.1712T>A (p.Ile571Lys) SNV
Germline		 Chr17:43093819 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10598603 rs_80357159

3 SubmittersRCV000566244RCV003645034
NM_007294.4(BRCA1):c.3487A>G (p.Thr1163Ala) SNV
Germline		 Chr17:43092044 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA057835 rs_769456095

3 SubmittersRCV000567829RCV001320173
NM_007294.4(BRCA1):c.3484G>T (p.Asp1162Tyr) SNV
Germline		 Chr17:43092047 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10595008 rs_1555587619

4 SubmittersRCV000575250RCV000985399RCV003530067
NM_007294.4(BRCA1):c.3425C>T (p.Ala1142Val) SNV
Germline		 Chr17:43092106 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10595127 rs_1555587711

3 SubmittersRCV000568611RCV000812116
NM_007294.4(BRCA1):c.3267G>T (p.Leu1089Phe) SNV
Germline		 Chr17:43092264 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA058018 rs_767544239

7 SubmittersRCV000563038RCV000814517RCV000781005RCV003478279
NM_007294.4(BRCA1):c.1253A>C (p.Glu418Ala) SNV
Germline		 Chr17:43094278 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10599548 rs_1555592050

5 SubmittersRCV000576146RCV000819564RCV001357547RCV003228959
NM_007294.4(BRCA1):c.1181G>T (p.Gly394Val) SNV
Germline		 Chr17:43094350 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10599687 rs_1555592295

4 SubmittersRCV000566668RCV003645035RCV003387884
NM_007294.4(BRCA1):c.2981G>A (p.Cys994Tyr) SNV
Germline		 Chr17:43092550 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10596038 rs_1238452758

5 SubmittersRCV000561966RCV001326585RCV001764658
NM_007294.4(BRCA1):c.4054G>C (p.Glu1352Gln) SNV
Germline		 Chr17:43091477 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10593855 rs_80357202

5 SubmittersRCV000575305RCV001361212RCV001591326
NM_007294.4(BRCA1):c.2633C>T (p.Ala878Val) SNV
Germline		 Chr17:43092898 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10596726 rs_1555589255

3 SubmittersRCV000569858RCV001865705
NM_007294.4(BRCA1):c.3953T>C (p.Ile1318Thr) SNV
Germline		 Chr17:43091578 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10594054 rs_1388475291

3 SubmittersRCV000573336RCV001360071
NM_007294.4(BRCA1):c.2501G>T (p.Gly834Val) SNV
Germline		 Chr17:43093030 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10596995 rs_757383244

3 SubmittersRCV000575873RCV001070978
NM_007294.4(BRCA1):c.1154G>A (p.Trp385Ter) SNV
Germline		 Chr17:43094377 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10599747 rs_1555592354

2 SubmittersRCV000565892RCV001036173
NM_007294.4(BRCA1):c.3941A>T (p.Asp1314Val) SNV
Germline		 Chr17:43091590 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA059098 rs_759916956

4 SubmittersRCV000564809RCV001066344
NM_007294.4(BRCA1):c.1129A>G (p.Ser377Gly) SNV
Germline		 Chr17:43094402 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10599799 rs_1555592415

3 SubmittersRCV000565234RCV001369833
NM_007294.4(BRCA1):c.3784T>C (p.Ser1262Pro) SNV
Germline		 Chr17:43091747 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA10594403 rs_1011096937

6 SubmittersRCV000565656RCV000691605RCV001355865RCV001844197
NM_007294.4(BRCA1):c.1021G>T (p.Asp341Tyr) SNV
Germline		 Chr17:43094510 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA056973 rs_756987689

6 SubmittersRCV000570677RCV000985362RCV001858255RCV003114693
NM_007294.4(BRCA1):c.802A>G (p.Asn268Asp) SNV
Germline		 Chr17:43094729 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10600479 rs_1555593066

3 SubmittersRCV000574618RCV003645047
NM_007294.4(BRCA1):c.3611G>C (p.Arg1204Thr) SNV
Germline		 Chr17:43091920 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10594746 rs_1456509049

4 SubmittersRCV000572132RCV001853763
NM_007294.4(BRCA1):c.3418A>C (p.Ser1140Arg) SNV
Germline		 Chr17:43092113 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10595146 rs_2227945

3 SubmittersRCV000561504RCV001344901
NM_007294.4(BRCA1):c.2449G>A (p.Gly817Ser) SNV
Germline		 Chr17:43093082 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10597112 rs_1555589646

3 SubmittersRCV000565058RCV001865706
NM_007294.4(BRCA1):c.2404G>C (p.Val802Leu) SNV
Germline		 Chr17:43093127 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10597200 rs_876660885

4 SubmittersRCV000568741RCV001193161RCV001858181
NM_007294.4(BRCA1):c.3379T>C (p.Tyr1127His) SNV
Germline		 Chr17:43092152 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA10595220 rs_1451089848

6 SubmittersRCV000567123RCV000703254RCV001591319RCV002232396
NM_007294.4(BRCA1):c.2153T>G (p.Leu718Arg) SNV
Germline		 Chr17:43093378 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA058776 rs_748550848

6 SubmittersRCV000570542RCV001057152RCV004001008RCV004554808
NM_007294.4(BRCA1):c.2093C>T (p.Pro698Leu) SNV
Germline		 Chr17:43093438 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10597813 rs_1555590478

5 SubmittersRCV000573001RCV000820698RCV001527065
NM_007294.4(BRCA1):c.3150T>G (p.Ser1050Arg) SNV
Germline		 Chr17:43092381 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10595681 rs_1555588305

3 SubmittersRCV000571449RCV000800551
NM_007294.4(BRCA1):c.3134A>G (p.Asn1045Ser) SNV
Germline		 Chr17:43092397 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10595715 rs_1555588330

3 SubmittersRCV000568216RCV001060862
NM_007294.4(BRCA1):c.1996C>G (p.Leu666Val) SNV
Germline		 Chr17:43093535 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10598019 rs_1555590709

4 SubmittersRCV000574020RCV001218358
NM_007294.4(BRCA1):c.1882A>G (p.Ser628Gly) SNV
Germline		 Chr17:43093649 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10598258 rs_1555591000

3 SubmittersRCV000573245RCV000686430
NM_007294.4(BRCA1):c.1799T>C (p.Ile600Thr) SNV
Germline		 Chr17:43093732 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10598420 rs_398122643

5 SubmittersRCV000568135RCV000699677RCV003999527
NM_007294.4(BRCA1):c.1487G>T (p.Arg496Leu) SNV
Germline		 Chr17:43094044 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10599071 rs_28897677

3 SubmittersRCV000572180RCV001865734
NM_007294.4(BRCA1):c.2878G>A (p.Gly960Ser) SNV
Germline		 Chr17:43092653 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10596232 rs_1555588796

3 SubmittersRCV000572311RCV003530072
NM_007294.4(BRCA1):c.2724A>C (p.Glu908Asp) SNV
Germline		 Chr17:43092807 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10596545 rs_1350643283

3 SubmittersRCV000573491RCV001858179
NM_007294.4(BRCA1):c.1255G>A (p.Val419Ile) SNV
Germline		 Chr17:43094276 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10599543 rs_876658873

4 SubmittersRCV000570591RCV001360642
NM_007294.4(BRCA1):c.2663A>T (p.His888Leu) SNV
Germline		 Chr17:43092868 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA10596669 rs_876658843

4 SubmittersRCV000562208RCV001226311RCV003607318
NM_007294.4(BRCA1):c.1132A>G (p.Ser378Gly) SNV
Germline		 Chr17:43094399 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10599793 rs_1555592404

4 SubmittersRCV000575906RCV001295765
NM_007294.4(BRCA1):c.2575A>G (p.Asn859Asp) SNV
Germline		 Chr17:43092956 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10596842 rs_1555589354

3 SubmittersRCV000564136RCV001858177
NM_007294.4(BRCA1):c.2471A>G (p.Asn824Ser) SNV
Germline		 Chr17:43093060 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10597061 rs_1485586275

3 SubmittersRCV000569931RCV001858182
NM_007294.4(BRCA1):c.971G>A (p.Ser324Asn) SNV
Germline		 Chr17:43094560 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10600122 rs_1462728426

4 SubmittersRCV000573940RCV000807143RCV002509446
NM_007294.4(BRCA1):c.1859T>A (p.Ile620Asn) SNV
Germline		 Chr17:43093672 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10598302 rs_1555591085

3 SubmittersRCV000574834RCV001858258
NM_007294.4(BRCA1):c.1714G>A (p.Glu572Lys) SNV
Germline		 Chr17:43093817 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10598601 rs_730881473

3 SubmittersRCV000566780RCV001370219
NM_007294.4(BRCA1):c.595G>A (p.Val199Met) SNV
Germline		 Chr17:43095921 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10600919 rs_1555593622

5 SubmittersRCV000570594RCV001805191RCV003767122RCV003994020RCV004569146
NM_007294.4(BRCA1):c.1540C>A (p.Pro514Thr) SNV
Germline		 Chr17:43093991 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10598972 rs_1555591584

3 SubmittersRCV000571829RCV000792382
NM_007294.4(BRCA1):c.1460T>G (p.Val487Gly) SNV
Germline		 Chr17:43094071 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA057270 rs_748812609

4 SubmittersRCV000568521RCV003767174
NM_007294.4(BRCA1):c.948C>G (p.Ser316Arg) SNV
Germline		 Chr17:43094583 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10600171 rs_1555592782

6 SubmittersRCV000561351RCV001055289RCV001584381RCV004001007
NM_007294.4(BRCA1):c.841A>G (p.Ser281Gly) SNV
Germline		 Chr17:43094690 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10600402 rs_1300771163

3 SubmittersRCV000562697RCV003483675
NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe) SNV
Germline		 Chr17:43124017 Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10601996 rs_1064793052

3 SubmittersRCV000561214RCV000696469RCV001077723
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter) SNV
Germline		 Chr17:43115743 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10601926 rs_886040898

5 SubmittersRCV000574685RCV000763400RCV000780971RCV001076589
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter) SNV
Germline		 Chr17:61776557 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA400478637 rs_786202760

8 SubmittersRCV000565890RCV000657705RCV000690470RCV001526941RCV001783077RCV003335517
NM_002878.4(RAD51D):c.577-2A>G SNV
Germline		 Chr17:35103546 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA399088005 rs_1555567649

7 SubmittersRCV000567818RCV000760066RCV001041429RCV001192467
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter) SNV
Germline		 Chr17:61859808 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8690981 rs_575595017

7 SubmittersRCV000568753RCV000588194RCV000636179RCV000657727RCV003335485
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter) SNV
Germline		 Chr17:61801389 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA400484136 rs_1555607749

4 SubmittersRCV000570826RCV000815867RCV001280634RCV003335510
NM_007294.4(BRCA1):c.5215G>A (p.Asp1739Asn) SNV
Germline		 Chr17:43057114 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10591111 rs_80357283

3 SubmittersRCV000570314RCV001076224RCV001372578
NM_007294.4(BRCA1):c.4674A>G (p.Leu1558=) SNV
Germline		 Chr17:43074332 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA290831878 rs_996042036

4 SubmittersRCV000569235RCV001302590RCV004569094
NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=) SNV
Germline		 Chr17:43082417 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA500148350 rs_1250691798

6 SubmittersRCV000574391RCV000688632RCV000989885RCV002476212
NM_000546.6(TP53):c.738G>A (p.Met246Ile) SNV
Germline		 Chr17:7674225 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA287487993 rs_1019340046

3 SubmittersRCV000561491RCV000633390RCV003483672
NM_007294.4(BRCA1):c.4021G>A (p.Val1341Ile) SNV
Germline		 Chr17:43091510 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA059050 rs_762908108

4 SubmittersRCV000570578RCV000692212
NM_007294.4(BRCA1):c.3965A>G (p.Lys1322Arg) SNV
Germline		 Chr17:43091566 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10594039 rs_80357042

8 SubmittersRCV000568090RCV000637586RCV001193746RCV003230546RCV003480698
NM_007294.4(BRCA1):c.2840A>G (p.Lys947Arg) SNV
Germline		 Chr17:43092691 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA058260 rs_778118145

5 SubmittersRCV000568879RCV000792546RCV004000920
NM_007294.4(BRCA1):c.2822A>G (p.Asn941Ser) SNV
Germline		 Chr17:43092709 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA058293 rs_776512377

3 SubmittersRCV000566569RCV001240781
NM_007294.4(BRCA1):c.2609C>G (p.Ala870Gly) SNV
Germline		 Chr17:43092922 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10596776 rs_1060502324

3 SubmittersRCV000564221RCV001858260
NM_007294.4(BRCA1):c.2488A>T (p.Lys830Ter) SNV
Germline		 Chr17:43093043 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10597024 rs_1555589569

2 SubmittersRCV000562965RCV001070042
NM_007294.4(BRCA1):c.2264A>G (p.Glu755Gly) SNV
Germline		 Chr17:43093267 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10597471 rs_922908090

3 SubmittersRCV000569974RCV000697719
NM_007294.4(BRCA1):c.2215A>G (p.Lys739Glu) SNV
Germline		 Chr17:43093316 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA058738 rs_56329598

6 SubmittersRCV000561453RCV000587563RCV001203880RCV001821667
NM_007294.4(BRCA1):c.1910C>T (p.Thr637Ile) SNV
Germline		 Chr17:43093621 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10598201 rs_1555590925

4 SubmittersRCV000569073RCV001215742RCV001770501
NM_007294.4(BRCA1):c.1733C>T (p.Ser578Phe) SNV
Germline		 Chr17:43093798 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10598562 rs_80356939

4 SubmittersRCV000568992RCV001858077
NM_007294.4(BRCA1):c.1207T>C (p.Ser403Pro) SNV
Germline		 Chr17:43094324 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10599636 rs_1555592200

4 SubmittersRCV000560940RCV002466538RCV003645033
NM_007294.4(BRCA1):c.1114T>C (p.Trp372Arg) SNV
Germline		 Chr17:43094417 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10599829 rs_1306111238

4 SubmittersRCV000574370RCV000637338RCV002509450
NM_007294.4(BRCA1):c.1017G>T (p.Lys339Asn) SNV
Germline		 Chr17:43094514 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10600025 rs_863224416

3 SubmittersRCV000567096RCV002527975
NM_007294.4(BRCA1):c.919A>G (p.Lys307Glu) SNV
Germline		 Chr17:43094612 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10600231 rs_1216516227

5 SubmittersRCV000572449RCV000758853RCV000691850
NM_000059.4(BRCA2):c.1910-2A>T SNV
Germline		 Chr13:32336263 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387768195 rs_1228762581

2 SubmittersRCV000576839RCV001207879
NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter) SNV
Germline		 Chr13:32337044 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387773453 rs_979372317

4 SubmittersRCV000576646RCV000985486RCV001207149RCV002456272
NM_000059.4(BRCA2):c.9648+1G>A SNV
Germline		 Chr13:32397045 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387763856 rs_730881573

4 SubmittersRCV000576826RCV003159971RCV003767249
NM_007294.4(BRCA1):c.4888G>T (p.Glu1630Ter) SNV
Germline		 Chr17:43071026 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10591749 rs_1173155015

3 SubmittersRCV000576818RCV001853823RCV002341491
NM_007294.4(BRCA1):c.-1A>G SNV
Germline		 Chr17:43124097 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_587781565

5 SubmittersRCV000776814RCV001072288RCV001464656RCV001844204
NM_014252.4(SLC25A15):c.22C>T (p.Gln8Ter) SNV
Germline		 Chr13:40793248 Pathogenic Condition: not provided
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hereditary breast ovarian cancer syndrome
Cardiac arrhythmia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387916252 rs_1448259297

4 SubmittersRCV000579310RCV001382896RCV004543282RCV004526708
NM_000059.4(BRCA2):c.2299A>C (p.Ser767Arg) SNV
Germline		 Chr13:32336654 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6940594 rs_750755676

7 SubmittersRCV000579867RCV000637714RCV001821696RCV002307553
NM_000059.4(BRCA2):c.4374T>A (p.His1458Gln) SNV
Germline		 Chr13:32338729 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387781016 rs_1060504627

3 SubmittersRCV000580464RCV001360482
NM_000059.4(BRCA2):c.6406T>A (p.Leu2136Ile) SNV
Germline		 Chr13:32340761 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387789248 rs_1231977477

5 SubmittersRCV000579798RCV000758926RCV001340281
NM_000059.4(BRCA2):c.7925T>G (p.Phe2642Cys) SNV
Germline		 Chr13:32362642 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387747198 rs_1287337540

4 SubmittersRCV000579474RCV002529091RCV003459419
NM_000059.4(BRCA2):c.8009C>G (p.Ser2670Trp) SNV
Germline		 Chr13:32363211 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387748738 rs_80359035

4 SubmittersRCV000579856RCV001212985RCV003886416
NM_000059.4(BRCA2):c.8971C>T (p.Arg2991Cys) SNV
Germline		 Chr13:32379767 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6941325 rs_751787816

4 SubmittersRCV000580285RCV000810854RCV004001247
NM_000059.4(BRCA2):c.1327G>A (p.Glu443Lys) SNV
Germline		 Chr13:32332805 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387762663 rs_397507579

4 SubmittersRCV000580108RCV001059334RCV001566908
NM_000059.4(BRCA2):c.1613G>A (p.Ser538Asn) SNV
Germline		 Chr13:32333091 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA247497839 rs_994146384

5 SubmittersRCV000580001RCV001860038RCV002286761
NM_000059.4(BRCA2):c.3032C>T (p.Thr1011Ile) SNV
Germline		 Chr13:32337387 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387774928 rs_80358548

4 SubmittersRCV000580124RCV001312598
NM_000059.4(BRCA2):c.3340C>T (p.Leu1114Phe) SNV
Germline		 Chr13:32337695 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387776312 rs_1468014859

5 SubmittersRCV000580856RCV000816799RCV004001244
NM_000059.4(BRCA2):c.3368G>C (p.Ser1123Thr) SNV
Germline		 Chr13:32337723 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387776394 rs_1555283202

6 SubmittersRCV000581024RCV000706802RCV000985498
NM_000059.4(BRCA2):c.4331A>C (p.Asn1444Thr) SNV
Germline		 Chr13:32338686 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387780858 rs_587782661

4 SubmittersRCV000580803RCV002529090
NM_000059.4(BRCA2):c.1799A>T (p.Tyr600Phe) SNV
Germline		 Chr13:32333277 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387765838 rs_397507276

7 SubmittersRCV000580594RCV000813386RCV003117346RCV004001242
NM_000059.4(BRCA2):c.6587A>G (p.Lys2196Arg) SNV
Germline		 Chr13:32340942 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387790000 rs_1555284764

4 SubmittersRCV000580056RCV000796475
NM_000059.4(BRCA2):c.6659A>G (p.Glu2220Gly) SNV
Germline		 Chr13:32341014 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387790440 rs_1555284784

5 SubmittersRCV000580214RCV001860039RCV003117347
NM_000059.4(BRCA2):c.5897A>T (p.His1966Leu) SNV
Germline		 Chr13:32340252 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387787489 rs_80358823

3 SubmittersRCV000579681RCV003645057
NM_000059.4(BRCA2):c.6709G>C (p.Asp2237His) SNV
Germline		 Chr13:32341064 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387790985 rs_1174104045

6 SubmittersRCV000581060RCV000758931RCV001853868RCV003316753
NM_000059.4(BRCA2):c.2591A>C (p.Gln864Pro) SNV
Germline		 Chr13:32336946 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387772610 rs_876659547

5 SubmittersRCV000581027RCV001853867RCV004001243
NM_007294.4(BRCA1):c.5422G>T (p.Val1808Leu) SNV
Germline		 Chr17:43047688 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA10590599 rs_1555574756

5 SubmittersRCV000580194RCV000804227RCV003459418RCV003478305
NM_007294.4(BRCA1):c.5343A>C (p.Glu1781Asp) SNV
Germline		 Chr17:43049184 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10590778 rs_1555575182

5 SubmittersRCV000581039RCV000781018RCV000804010RCV001077241
NM_000059.4(BRCA2):c.7033C>G (p.Gln2345Glu) SNV
Germline		 Chr13:32354886 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387738116 rs_886040685

5 SubmittersRCV000579918RCV000805741RCV002289850RCV004001245
NM_000059.4(BRCA2):c.7955T>G (p.Val2652Gly) SNV
Germline		 Chr13:32362672 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA387747262 rs_1555286868

2 SubmittersRCV001211134
NM_007294.4(BRCA1):c.3533G>C (p.Ser1178Thr) SNV
Germline		 Chr17:43091998 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10594903 rs_1294360179

4 SubmittersRCV000579732RCV003645053
NM_007294.4(BRCA1):c.1489C>A (p.Pro497Thr) SNV
Germline		 Chr17:43094042 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10599070 rs_1555591695

3 SubmittersRCV000579767RCV001212511
NM_007294.4(BRCA1):c.1096G>C (p.Asp366His) SNV
Germline		 Chr17:43094435 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10599866 rs_1289961661

6 SubmittersRCV000579920RCV001302591RCV003338671
NM_007294.4(BRCA1):c.877A>C (p.Thr293Pro) SNV
Germline		 Chr17:43094654 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10600323 rs_1555592945

3 SubmittersRCV000579523RCV003645056
NM_007294.4(BRCA1):c.3359T>A (p.Val1120Asp) SNV
Germline		 Chr17:43092172 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10595262 rs_1361427704

6 SubmittersRCV000579400RCV000588904RCV001035931RCV003316752
NM_007294.4(BRCA1):c.2682A>T (p.Lys894Asn) SNV
Germline		 Chr17:43092849 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10596635 rs_1131692093

3 SubmittersRCV000581110RCV002530750
NM_007294.4(BRCA1):c.4006A>T (p.Ser1336Cys) SNV
Germline		 Chr17:43091525 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10593950 rs_976725810

5 SubmittersRCV000579559RCV000805852RCV001564750
NM_007294.4(BRCA1):c.701C>T (p.Thr234Ile) SNV
Germline		 Chr17:43094830 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10600684 rs_1555593290

5 SubmittersRCV000579970RCV001057472
NM_007294.4(BRCA1):c.694G>T (p.Asp232Tyr) SNV
Germline		 Chr17:43094837 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10600699 rs_55975699

3 SubmittersRCV000580023RCV001860037
NM_007294.4(BRCA1):c.758C>T (p.Ala253Val) SNV
Germline		 Chr17:43094773 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10600566 rs_1555593177

6 SubmittersRCV000580159RCV000985445RCV001320781
NM_007294.4(BRCA1):c.106T>A (p.Ser36Thr) SNV
Germline		 Chr17:43115754 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10601943 rs_905812561

5 SubmittersRCV000580607RCV001076581RCV002227184RCV000637402
NM_007294.4(BRCA1):c.3601G>C (p.Gly1201Arg) SNV
Germline		 Chr17:43091930 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10594764 rs_55725337

3 SubmittersRCV000580336RCV003645054
NM_007294.4(BRCA1):c.1131C>G (p.Ser377Arg) SNV
Germline		 Chr17:43094400 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10599795 rs_786203434

4 SubmittersRCV000579597RCV001071973RCV004001240
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter) SNV
Germline		 Chr2:214780669 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA64788006 rs_796666047

6 SubmittersRCV000584178RCV000780952RCV001042194
NM_000535.7(PMS2):c.24-4C>G SNV
Germline		 Chr7:6006035 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658683468 rs_2345056

4 SubmittersRCV000584647RCV000699503RCV003483681
NM_000059.4(BRCA2):c.1754A>G (p.Lys585Arg) SNV
Germline		 Chr13:32333232 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387765518 rs_1555282049

3 SubmittersRCV000582539RCV002529218
NM_000059.4(BRCA2):c.2054A>T (p.Asp685Val) SNV
Germline		 Chr13:32336409 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387768987 rs_1555282420

5 SubmittersRCV000584011RCV001853909RCV002248797
NM_000059.4(BRCA2):c.2939A>G (p.Asp980Gly) SNV
Germline		 Chr13:32337294 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387774296 rs_1250767974

5 SubmittersRCV000582501RCV001044370RCV001764704
NM_000059.4(BRCA2):c.3802T>A (p.Ser1268Thr) SNV
Germline		 Chr13:32338157 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940726 rs_751092504

3 SubmittersRCV000583146RCV001853910
NM_000059.4(BRCA2):c.4790C>A (p.Ser1597Tyr) SNV
Germline		 Chr13:32339145 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387783236 rs_876660146

4 SubmittersRCV000584306RCV000800220
NM_000059.4(BRCA2):c.2761A>G (p.Ile921Val) SNV
Germline		 Chr13:32337116 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387773662 rs_1555282836

4 SubmittersRCV000581752RCV001224864
NM_000059.4(BRCA2):c.3090C>G (p.Phe1030Leu) SNV
Germline		 Chr13:32337445 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940664 rs_756152752

4 SubmittersRCV000583902RCV000687547
NM_000059.4(BRCA2):c.3260C>T (p.Thr1087Ile) SNV
Germline		 Chr13:32337615 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387776013 rs_1555283123

5 SubmittersRCV000582950RCV001226691RCV003234785
NM_000059.4(BRCA2):c.3656T>C (p.Phe1219Ser) SNV
Germline		 Chr13:32338011 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387777964 rs_1555283341

5 SubmittersRCV000582706RCV001860074RCV003459439
NM_000059.4(BRCA2):c.3725G>A (p.Ser1242Asn) SNV
Germline		 Chr13:32338080 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387778095 rs_1555283378

4 SubmittersRCV000584216RCV002529220
NM_000059.4(BRCA2):c.3870C>A (p.Cys1290Ter) SNV
Germline		 Chr13:32338225 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387778704 rs_1555283445

3 SubmittersRCV000582374RCV001390681RCV002298698
NM_000059.4(BRCA2):c.4490T>C (p.Val1497Ala) SNV
Germline		 Chr13:32338845 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387781541 rs_80358681

4 SubmittersRCV000582167RCV002298699
NM_000059.4(BRCA2):c.7924T>C (p.Phe2642Leu) SNV
Germline		 Chr13:32362641 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387747194 rs_1555286856

3 SubmittersRCV000583322RCV001860077
NM_000059.4(BRCA2):c.4919A>G (p.His1640Arg) SNV
Germline		 Chr13:32339274 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA247508683 rs_373483754

4 SubmittersRCV000583557RCV001223708
NM_000059.4(BRCA2):c.9502-9T>C SNV
Germline		 Chr13:32396889 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA247507909 rs_372042471

3 SubmittersRCV000584180RCV002530791RCV003237951
NM_000059.4(BRCA2):c.631+13A>G SNV
Germline		 Chr13:32326626 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658683827 rs_1555281112

4 SubmittersRCV000581787RCV000609415RCV001442350
NM_024675.4(PALB2):c.3067C>T (p.Gln1023Ter) SNV
Germline		 Chr16:23621408 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA395142961 rs_1555459386

3 SubmittersRCV000803999RCV000584638RCV001269180
NM_000059.4(BRCA2):c.1803A>C (p.Lys601Asn) SNV
Germline		 Chr13:32333281 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA6940542 rs_768106492

7 SubmittersRCV000583149RCV000637541RCV001556198RCV003493672RCV004525979
NM_000059.4(BRCA2):c.8029G>T (p.Glu2677Ter) SNV
Germline		 Chr13:32363231 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387748934 rs_1555286958

2 SubmittersRCV000582544RCV001389053
NM_000059.4(BRCA2):c.3220A>T (p.Ser1074Cys) SNV
Germline		 Chr13:32337575 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940679 rs_145605603

6 SubmittersRCV000582140RCV001051481RCV002250664RCV004001318
NM_000059.4(BRCA2):c.3847G>A (p.Val1283Ile) SNV
Germline		 Chr13:32338202 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA6940728 rs_754974533

4 SubmittersRCV000584376RCV000811572
NM_000059.4(BRCA2):c.9454G>T (p.Glu3152Ter) SNV
Germline		 Chr13:32394886 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387761663 rs_80359218

2 SubmittersRCV000582913RCV002530790
NM_000059.4(BRCA2):c.9604C>T (p.Pro3202Ser) SNV
Germline		 Chr13:32397000 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387763595 rs_1555289789

4 SubmittersRCV000582090RCV000691367RCV004001325
NM_000059.4(BRCA2):c.4113G>C (p.Gln1371His) SNV
Germline		 Chr13:32338468 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387779298 rs_1555283563

4 SubmittersRCV000581592RCV001232649
NM_000059.4(BRCA2):c.9983T>G (p.Phe3328Cys) SNV
Germline		 Chr13:32398496 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA6941460 rs_770826575

3 SubmittersRCV000582534RCV001058719RCV002289860
NM_000059.4(BRCA2):c.5054C>G (p.Ser1685Ter) SNV
Germline		 Chr13:32339409 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387784027 rs_398122791

2 SubmittersRCV000582926RCV000805797
NM_000059.4(BRCA2):c.67+13T>C SNV
Germline		 Chr13:32316540 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA658683803 rs_1555280121

3 SubmittersRCV000583948RCV001503419RCV002222558
NM_000059.4(BRCA2):c.6488A>G (p.Gln2163Arg) SNV
Germline		 Chr13:32340843 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387789478 rs_1555284720

3 SubmittersRCV000584465RCV001322275
NM_000059.4(BRCA2):c.6866T>G (p.Leu2289Ter) SNV
Germline		 Chr13:32344582 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387792695 rs_1555285146

3 SubmittersRCV000583617RCV001584400
NM_002878.4(RAD51D):c.345G>A (p.Gln115=) SNV
Germline		 Chr17:35107366 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 4		 Criteria Provided
Conflicting Classifications
 CA499731862 rs_1555568469

4 SubmittersRCV000583256RCV003483683RCV004024644
NM_000059.4(BRCA2):c.9649-9T>G SNV
Germline		 Chr13:32398153 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6941436 rs_765352313

5 SubmittersRCV000581557RCV000759692RCV001174725RCV001084889RCV004001326
NM_000059.4(BRCA2):c.3497T>C (p.Val1166Ala) SNV
Germline		 Chr13:32337852 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940701 rs_762886975

6 SubmittersRCV000581934RCV001363535RCV003237950RCV004001320
NM_000059.4(BRCA2):c.3749A>T (p.Glu1250Val) SNV
Germline		 Chr13:32338104 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387778179 rs_56400215

3 SubmittersRCV000583002RCV000824172
NM_000059.4(BRCA2):c.5770A>T (p.Ile1924Phe) SNV
Germline		 Chr13:32340125 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387787102 rs_779020831

5 SubmittersRCV000581357RCV001040894RCV003478313
NM_000059.4(BRCA2):c.6916G>C (p.Ala2306Pro) SNV
Germline		 Chr13:32344632 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387792911 rs_730881550

4 SubmittersRCV000583812RCV000800022RCV002289859
NM_007294.4(BRCA1):c.5332+7G>T SNV
Germline		 Chr17:43051056 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA054553 rs_773655919

5 SubmittersRCV000583959RCV000590625RCV001073052RCV001087837
NM_000059.4(BRCA2):c.8351G>T (p.Arg2784Leu) SNV
Germline		 Chr13:32370421 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387752389 rs_80359076

4 SubmittersRCV000582573RCV001284109RCV003767300
NM_007294.4(BRCA1):c.5193+19A>G SNV
Germline		 Chr17:43063314 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658684096 rs_1555578276

4 SubmittersRCV000583504RCV000779896RCV001076178RCV000920541
NM_000059.4(BRCA2):c.8418A>T (p.Ser2806=) SNV
Germline		 Chr13:32370488 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA483261229 rs_1555287636

3 SubmittersRCV000581974RCV000927197
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr) SNV
Germline		 Chr17:43063361 Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10591215 rs_80357104

5 SubmittersRCV000582258RCV000637560RCV001077730
NM_007294.4(BRCA1):c.3400G>A (p.Glu1134Lys) SNV
Germline		 Chr17:43092131 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10595178 rs_80357018

5 SubmittersRCV000583019RCV000588879RCV000806646
NM_000059.4(BRCA2):c.9018C>G (p.Tyr3006Ter) SNV
Germline		 Chr13:32379814 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387757478 rs_80359154

3 SubmittersRCV000583561RCV001860079
NM_007294.4(BRCA1):c.1323A>G (p.Ile441Met) SNV
Germline		 Chr17:43094208 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10599406 rs_1555591935

5 SubmittersRCV000582632RCV001044492
NM_007294.4(BRCA1):c.1037C>A (p.Pro346His) SNV
Germline		 Chr17:43094494 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10599985 rs_1555592620

3 SubmittersRCV000584626RCV002295305
NM_007294.4(BRCA1):c.878C>T (p.Thr293Ile) SNV
Germline		 Chr17:43094653 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10600319 rs_747172803

3 SubmittersRCV000583425RCV001370800
NM_007294.4(BRCA1):c.2723A>C (p.Glu908Ala) SNV
Germline		 Chr17:43092808 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10596548 rs_1064794969

5 SubmittersRCV000582231RCV001284393RCV002529215
NM_007294.4(BRCA1):c.2663A>G (p.His888Arg) SNV
Germline		 Chr17:43092868 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10596670 rs_876658843

3 SubmittersRCV000581709RCV001346510
NM_007294.4(BRCA1):c.1309C>T (p.His437Tyr) SNV
Germline		 Chr17:43094222 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA057149 rs_759878392

5 SubmittersRCV000581830RCV001295915RCV003117353
NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg) SNV
Germline		 Chr17:43082550 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
not specified
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA059655 rs_80356916

7 SubmittersRCV000584590RCV001340130RCV001284545RCV002250663RCV001251289RCV003153756
NM_007294.4(BRCA1):c.2481A>G (p.Glu827=) SNV
Germline		 Chr17:43093050 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA290840072 rs_397508970

6 SubmittersRCV000581429RCV000637920RCV000759506RCV004001313
NM_007294.4(BRCA1):c.2564A>T (p.Gln855Leu) SNV
Germline		 Chr17:43092967 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA058462 rs_768001441

3 SubmittersRCV000582745RCV000706969
NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter) SNV
Germline		 Chr17:43092822 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 CA10596579 rs_1555589094

2 SubmittersRCV000585837RCV000585811RCV001867901
NM_002485.5(NBN):c.175C>T (p.Gln59Ter) SNV
Germline		 Chr8:89981520 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Condition: not provided
Aplastic anemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA371662638 rs_1554568427

6 SubmittersRCV000586448RCV000688264RCV001013002RCV003133388RCV003471944
NM_000059.4(BRCA2):c.-15A>T SNV
Germline		 Chr13:32316446 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658683801 rs_138705202

3 SubmittersRCV000588555RCV001178828RCV001455508
NM_000059.4(BRCA2):c.1103C>G (p.Ser368Ter) SNV
Germline		 Chr13:32332581 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA387761567 rs_80358407

4 SubmittersRCV000590792RCV000661666RCV001017319
NM_000059.4(BRCA2):c.2734A>G (p.Thr912Ala) SNV
Germline		 Chr13:32337089 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387773607 rs_1555282813

4 SubmittersRCV000585991RCV003157709RCV003530086
NM_000059.4(BRCA2):c.4213A>G (p.Asn1405Asp) SNV
Germline		 Chr13:32338568 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387780264 rs_1555283633

5 SubmittersRCV000587921RCV001042617RCV001821711RCV002331002
NM_000059.4(BRCA2):c.4288A>G (p.Thr1430Ala) SNV
Germline		 Chr13:32338643 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387780645 rs_1555283691

4 SubmittersRCV000588421RCV001022215RCV002530889
NM_000059.4(BRCA2):c.6097A>G (p.Ile2033Val) SNV
Germline		 Chr13:32340452 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA6940928 rs_772846629

5 SubmittersRCV000585954RCV001024890RCV001242746RCV004002394
NM_000059.4(BRCA2):c.6131G>A (p.Gly2044Asp) SNV
Germline		 Chr13:32340486 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387788208 rs_56191579

4 SubmittersRCV000590164RCV001024926RCV001867904
NM_000059.4(BRCA2):c.7419T>A (p.Cys2473Ter) SNV
Germline		 Chr13:32355272 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387741973 rs_1555286120

2 SubmittersRCV000589473RCV003159990
NM_000059.4(BRCA2):c.631+8T>C SNV
Germline		 Chr13:32326621 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA658683826 rs_1555281111

4 SubmittersRCV000588341RCV001086164RCV001181523
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter) SNV
Germline		 Chr13:32332680 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387762066 rs_80358413

4 SubmittersRCV000587751RCV003139885RCV003471933
NM_000059.4(BRCA2):c.1648G>T (p.Glu550Ter) SNV
Germline		 Chr13:32333126 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 CA387764993 rs_1555281999

1 SubmittersRCV000590498
NM_000059.4(BRCA2):c.2213G>A (p.Cys738Tyr) SNV
Germline		 Chr13:32336568 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387770594 rs_1219265131

5 SubmittersRCV000587463RCV001014811RCV002530888RCV004002392
NM_000059.4(BRCA2):c.2861A>G (p.Glu954Gly) SNV
Germline		 Chr13:32337216 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387773978 rs_1555282915

4 SubmittersRCV000589506RCV000691430RCV002438521
NM_000059.4(BRCA2):c.3247A>G (p.Asn1083Asp) SNV
Germline		 Chr13:32337602 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387775963 rs_777994248

3 SubmittersRCV000586777RCV003157711RCV003645071
NM_000059.4(BRCA2):c.5917A>C (p.Asn1973His) SNV
Germline		 Chr13:32340272 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387787523 rs_1555284460

5 SubmittersRCV000587760RCV000791674RCV001024680
NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter) SNV
Germline		 Chr13:32340471 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA387788150 rs_1555284559

2 SubmittersRCV000588279
NM_000059.4(BRCA2):c.6268C>T (p.His2090Tyr) SNV
Germline		 Chr13:32340623 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387788967 rs_1405631299

6 SubmittersRCV000589502RCV000773071RCV001853971
NM_000059.4(BRCA2):c.6356A>T (p.Asn2119Ile) SNV
Germline		 Chr13:32340711 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387789139 rs_1555284650

3 SubmittersRCV000586871RCV001853972RCV003157720
NM_000059.4(BRCA2):c.6744T>A (p.His2248Gln) SNV
Germline		 Chr13:32341099 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387791117 rs_1555284842

5 SubmittersRCV000588646RCV001066930RCV001185319
NM_000059.4(BRCA2):c.6915G>A (p.Lys2305=) SNV
Germline		 Chr13:32344631 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA483275534 rs_1555285156

6 SubmittersRCV000587051RCV000929536RCV001025798RCV001448843RCV002272296
NM_000059.4(BRCA2):c.1254A>C (p.Ser418=) SNV
Germline		 Chr13:32332732 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA483436508 rs_1052409595

4 SubmittersRCV000588164RCV000985462RCV002420557RCV003767324
NM_000059.4(BRCA2):c.2951A>G (p.Glu984Gly) SNV
Germline		 Chr13:32337306 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940647 rs_767964776

5 SubmittersRCV000586715RCV001867903RCV002255465
NM_000059.4(BRCA2):c.3419G>A (p.Ser1140Asn) SNV
Germline		 Chr13:32337774 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387776510 rs_80358585

5 SubmittersRCV000589884RCV000704802RCV001020255
NM_000059.4(BRCA2):c.1816C>T (p.Pro606Ser) SNV
Germline		 Chr13:32333294 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387766024 rs_765924757

6 SubmittersRCV000585914RCV000814790RCV002413663
NM_000059.4(BRCA2):c.1939T>C (p.Cys647Arg) SNV
Germline		 Chr13:32336294 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387768352 rs_1555282367

6 SubmittersRCV000589864RCV001054194RCV001525794
NM_000059.4(BRCA2):c.4429A>G (p.Ile1477Val) SNV
Germline		 Chr13:32338784 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387781283 rs_1159807733

6 SubmittersRCV000586178RCV000637705RCV001022464RCV004002393
NM_000059.4(BRCA2):c.5734G>A (p.Glu1912Lys) SNV
Germline		 Chr13:32340089 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387786929 rs_397507800

3 SubmittersRCV000588009RCV001853970RCV003157718
NM_000059.4(BRCA2):c.5867A>G (p.Asp1956Gly) SNV
Germline		 Chr13:32340222 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387787427 rs_1309562690

5 SubmittersRCV000589077RCV001051475RCV003157719
NM_000059.4(BRCA2):c.9839C>G (p.Pro3280Arg) SNV
Germline		 Chr13:32398352 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387766409 rs_80359246

4 SubmittersRCV000588196RCV000704666RCV002384281RCV003321691
NM_000059.4(BRCA2):c.6454T>A (p.Ser2152Thr) SNV
Germline		 Chr13:32340809 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387789336 rs_1555284705

3 SubmittersRCV000587208RCV002304217RCV003157722
NM_000059.4(BRCA2):c.6760T>C (p.Phe2254Leu) SNV
Germline		 Chr13:32341115 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387791178 rs_1555284847

4 SubmittersRCV000590351RCV000701143RCV001001315RCV003157723
NM_007294.4(BRCA1):c.4096+17T>C SNV
Germline		 Chr17:43091418 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658684093 rs_1555586455

2 SubmittersRCV000587003RCV002530939
NM_007294.4(BRCA1):c.2953C>T (p.Pro985Ser) SNV
Germline		 Chr17:43092578 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10596090 rs_1555588649

4 SubmittersRCV000589591RCV003157730RCV002532355
NM_007294.4(BRCA1):c.441+9A>G SNV
Germline		 Chr17:43104113 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA658684043 rs_1555596273

3 SubmittersRCV000586789RCV001418017RCV001821713
NM_007294.4(BRCA1):c.301+11A>C SNV
Germline		 Chr17:43104857 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658684088 rs_1555596621

4 SubmittersRCV000586019RCV000607541RCV002061988
NM_007194.4(CHEK2):c.908+1G>C SNV
Germline		 Chr22:28703504 Likely pathogenic Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA411100868 rs_587781699

3 SubmittersRCV000589468RCV001867911
NM_007294.4(BRCA1):c.2387C>G (p.Thr796Arg) SNV
Germline		 Chr17:43093144 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597232 rs_80357364

3 SubmittersRCV000589991RCV001369507RCV003157728
NM_007294.4(BRCA1):c.2346T>A (p.Ser782Arg) SNV
Germline		 Chr17:43093185 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10597314 rs_1555589837

5 SubmittersRCV000588839RCV000693241RCV001185320RCV003488709
NM_007294.4(BRCA1):c.1589A>G (p.Glu530Gly) SNV
Germline		 Chr17:43093942 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10598869 rs_1555591512

5 SubmittersRCV000589930RCV000776381RCV001867912
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val) SNV
Germline		 Chr17:58703225 Conflicting classifications of pathogenicity Condition: not provided
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA8677280 rs_531838785

8 SubmittersRCV000586663RCV000808711RCV000776221RCV001122911RCV003482150
NM_007294.4(BRCA1):c.5528C>T (p.Ala1843Val) SNV
Germline		 Chr17:43045742 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10590262 rs_730881447

5 SubmittersRCV000590708RCV000691407RCV001024228RCV001076359
NM_007294.4(BRCA1):c.3454G>C (p.Asp1152His) SNV
Germline		 Chr17:43092077 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10595076 rs_80357175

7 SubmittersRCV000794896RCV001731799RCV001178185RCV001770537RCV004002447
NM_007294.4(BRCA1):c.3391G>A (p.Asp1131Asn) SNV
Germline		 Chr17:43092140 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595197 rs_1555587816

4 SubmittersRCV000590319RCV001325244RCV003157731
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr) SNV
Germline		 Chr17:43092451 Conflicting classifications of pathogenicity Condition: not provided
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10595829 rs_80357386

8 SubmittersRCV000587381RCV000764121RCV001018505RCV001053353RCV001328037RCV004002446
NM_007294.4(BRCA1):c.5333-18T>G SNV
Germline		 Chr17:43049212 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658684045 rs_1555575227

2 SubmittersRCV000589060RCV003645074
NM_007294.4(BRCA1):c.2447A>T (p.His816Leu) SNV
Germline		 Chr17:43093084 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597115 rs_80357108

3 SubmittersRCV000589023RCV001853989RCV003157729
NM_007294.4(BRCA1):c.442-17T>C SNV
Germline		 Chr17:43099897 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658684037 rs_1555595010

2 SubmittersRCV000590137RCV003645072
NM_007294.4(BRCA1):c.3642G>C (p.Glu1214Asp) SNV
Germline		 Chr17:43091889 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10594684 rs_398122675

3 SubmittersRCV000587458RCV000802342RCV003157732
NM_007294.4(BRCA1):c.3042G>A (p.Met1014Ile) SNV
Germline		 Chr17:43092489 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10595909 rs_1555588493

4 SubmittersRCV000587781RCV001018285RCV001867913
NM_007294.4(BRCA1):c.2483G>T (p.Gly828Val) SNV
Germline		 Chr17:43093048 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10597035 rs_1555589578

5 SubmittersRCV000586074RCV001525222RCV002532354
NM_007294.4(BRCA1):c.2147G>C (p.Ser716Thr) SNV
Germline		 Chr17:43093384 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597710 rs_1555590369

3 SubmittersRCV000588733RCV002222188RCV003157726
NM_007294.4(BRCA1):c.614T>G (p.Leu205Ter) SNV
Germline		 Chr17:43095902 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 CA10600875 rs_1555593598

1 SubmittersRCV000587443
NM_007294.4(BRCA1):c.81-15C>A SNV
Germline		 Chr17:43115794 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658684106 rs_1555599314

3 SubmittersRCV001077738RCV000587922RCV001498992
NM_000059.4(BRCA2):c.7007+53G>A SNV
Germline		 Chr13:32346949 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA247519786 rs_56014558

5 SubmittersRCV000611264RCV000732059RCV001511262RCV002256414RCV004533250
NM_000059.4(BRCA2):c.9087G>T (p.Ala3029=) SNV
Germline		 Chr13:32379883 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA483439884 rs_368576266

4 SubmittersRCV000604018RCV002448851RCV004002492RCV003767465
NM_000059.4(BRCA2):c.-56C>A SNV
Germline		 Chr13:32315651 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658798079 rs_1555279958

2 SubmittersRCV000605195RCV001854149
NM_000059.4(BRCA2):c.476-11T>C SNV
Germline		 Chr13:32326231 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA658798099 rs_1555280973

5 SubmittersRCV000772392RCV001447673RCV001712688RCV004002605
NM_000059.4(BRCA2):c.3096A>G (p.Lys1032=) SNV
Germline		 Chr13:32337451 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA483437557 rs_1555283050

3 SubmittersRCV000612248RCV001370126RCV002325157
NM_000059.4(BRCA2):c.7595C>T (p.Pro2532Leu) SNV
Germline		 Chr13:32356587 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387743924 rs_967458408

3 SubmittersRCV000606559RCV001026600RCV001308784
NM_000059.4(BRCA2):c.7618-3T>C SNV
Germline		 Chr13:32357739 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA658798120 rs_1555286385

2 SubmittersRCV000606784RCV001368759
NM_000059.4(BRCA2):c.9117+12T>A SNV
Germline		 Chr13:32379925 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA609453944 rs_1212956665

3 SubmittersRCV000603849RCV000637980
NM_007294.4(BRCA1):c.-19-7G>A SNV
Germline		 Chr17:43124122 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA626086885 rs_1415813169

3 SubmittersRCV000601725RCV000924511RCV002257854
NM_007294.4(BRCA1):c.4485-8C>A SNV
Germline		 Chr17:43074529 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA658798845 rs_397507234

4 SubmittersRCV000609609RCV000772448RCV001440497RCV003150300
NM_007294.4(BRCA1):c.1011A>G (p.Glu337=) SNV
Germline		 Chr17:43094520 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA500234038 rs_1555592670

6 SubmittersRCV000613817RCV000758782RCV001016995RCV001476680
NM_000059.4(BRCA2):c.9649-1G>T SNV
Germline		 Chr13:32398161 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387765053 rs_1555289898

5 SubmittersRCV000600110RCV001724086RCV002528808
NM_000059.4(BRCA2):c.2399G>A (p.Gly800Asp) SNV
Germline		 Chr13:32336754 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387771962 rs_276174821

6 SubmittersRCV000624979RCV001296661RCV001692232RCV003157738
NM_000059.4(BRCA2):c.3845C>T (p.Thr1282Ile) SNV
Germline		 Chr13:32338200 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387778591 rs_1555283423

6 SubmittersRCV000624982RCV000692781RCV002360483
NM_000059.4(BRCA2):c.6661A>T (p.Asn2221Tyr) SNV
Germline		 Chr13:32341016 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387790452 rs_1555284785

4 SubmittersRCV000625271RCV001303623RCV001692237RCV003157740
NM_000059.4(BRCA2):c.331A>G (p.Asn111Asp) SNV
Germline		 Chr13:32325090 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA387756534 rs_1555280839

3 SubmittersRCV000625753RCV001564741RCV003645078
NM_000059.4(BRCA2):c.2063A>G (p.Tyr688Cys) SNV
Germline		 Chr13:32336418 Conflicting classifications of pathogenicity Melanoma
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA247500518 rs_28897713

5 SubmittersRCV000626573RCV000772733RCV000807590
NM_000059.4(BRCA2):c.5126A>G (p.Asp1709Gly) SNV
Germline		 Chr13:32339481 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387784165 rs_786202836

6 SubmittersRCV000627120RCV000637544RCV001764746RCV004002760
NM_007294.4(BRCA1):c.4358-2725T>C SNV
Germline		 Chr17:43079339 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA060047 rs_374519494

2 SubmittersRCV000627118RCV000709469
NM_000059.4(BRCA2):c.1388C>G (p.Thr463Arg) SNV
Germline		 Chr13:32332866 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA6940517 rs_151011453

4 SubmittersRCV000637561RCV001011217RCV003330856
NM_000059.4(BRCA2):c.1910-6G>A SNV
Germline		 Chr13:32336259 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA658798095 rs_1555282344

2 SubmittersRCV000637995RCV000658674
NM_000059.4(BRCA2):c.2035A>G (p.Asn679Asp) SNV
Germline		 Chr13:32336390 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387768900 rs_786202617

3 SubmittersRCV000637405RCV000772334
NM_000059.4(BRCA2):c.475+2T>A SNV
Germline		 Chr13:32326152 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 CA387757263 rs_1555280966

1 SubmittersRCV000637465
NM_000059.4(BRCA2):c.809C>T (p.Ser270Leu) SNV
Germline		 Chr13:32332287 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387760390 rs_276174902

5 SubmittersRCV000637717RCV000772854RCV003238794
NM_000059.4(BRCA2):c.959T>C (p.Leu320Pro) SNV
Germline		 Chr13:32332437 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387760880 rs_1334767632

4 SubmittersRCV000637613RCV002386029RCV003607339
NM_000059.4(BRCA2):c.2306T>C (p.Leu769Pro) SNV
Germline		 Chr13:32336661 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387771352 rs_1555282603

2 SubmittersRCV000637727RCV003157791
NM_000059.4(BRCA2):c.1186T>A (p.Ser396Thr) SNV
Germline		 Chr13:32332664 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387762004 rs_1555281765

2 SubmittersRCV000637756RCV003157796
NM_000059.4(BRCA2):c.1234C>T (p.Pro412Ser) SNV
Germline		 Chr13:32332712 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387762204 rs_1555281787

3 SubmittersRCV000637474RCV001010473
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser) SNV
Germline		 Chr13:32332995 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
8 conditions		 Criteria Provided
Conflicting Classifications
 CA387764543 rs_1249900164

5 SubmittersRCV000637551RCV001570107RCV002388048RCV002492982
NM_000059.4(BRCA2):c.1551T>A (p.Asn517Lys) SNV
Germline		 Chr13:32333029 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387764664 rs_760647691

2 SubmittersRCV000637356RCV003157748
NM_000059.4(BRCA2):c.2398G>T (p.Gly800Cys) SNV
Germline		 Chr13:32336753 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387771953 rs_431825297

3 SubmittersRCV000637446RCV003157755
NM_000059.4(BRCA2):c.1588A>G (p.Lys530Glu) SNV
Germline		 Chr13:32333066 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387764787 rs_879255325

3 SubmittersRCV000637813RCV003157801
NM_000059.4(BRCA2):c.3284A>G (p.Gln1095Arg) SNV
Germline		 Chr13:32337639 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387776104 rs_1555283143

2 SubmittersRCV000637692RCV003157788
NM_000059.4(BRCA2):c.3475T>C (p.Cys1159Arg) SNV
Germline		 Chr13:32337830 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387776824 rs_886037814

4 SubmittersRCV000637617RCV000989022RCV001186730
NM_000059.4(BRCA2):c.1882C>T (p.Pro628Ser) SNV
Germline		 Chr13:32333360 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387766670 rs_1163156807

6 SubmittersRCV000758869RCV000781045RCV000637807RCV002406371
NM_000059.4(BRCA2):c.3885A>C (p.Gln1295His) SNV
Germline		 Chr13:32338240 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387778752 rs_876659864

2 SubmittersRCV000637593RCV003157771
NM_000059.4(BRCA2):c.4033G>A (p.Asp1345Asn) SNV
Germline		 Chr13:32338388 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387779070 rs_1555283516

3 SubmittersRCV000637578RCV002325232
NM_000059.4(BRCA2):c.2468C>A (p.Ala823Asp) SNV
Germline		 Chr13:32336823 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387772354 rs_1555282694

2 SubmittersRCV000637787RCV003157799
NM_000059.4(BRCA2):c.2627A>G (p.Asn876Ser) SNV
Germline		 Chr13:32336982 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA247502734 rs_997313713

5 SubmittersRCV000637455RCV000985484RCV002424404
NM_000059.4(BRCA2):c.4359A>T (p.Lys1453Asn) SNV
Germline		 Chr13:32338714 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387780960 rs_774446640

2 SubmittersRCV000637488RCV003157760
NM_000059.4(BRCA2):c.2998A>G (p.Ile1000Val) SNV
Germline		 Chr13:32337353 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387774656 rs_1555282999

4 SubmittersRCV000637546RCV003478361RCV003157768
NM_000059.4(BRCA2):c.5392A>G (p.Asn1798Asp) SNV
Germline		 Chr13:32339747 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387785272 rs_1555284208

4 SubmittersRCV000637775RCV001186733
NM_000059.4(BRCA2):c.5606G>A (p.Ser1869Asn) SNV
Germline		 Chr13:32339961 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387786072 rs_1555284296

5 SubmittersRCV000637799RCV001024317RCV002268228
NM_000059.4(BRCA2):c.3409T>A (p.Leu1137Met) SNV
Germline		 Chr13:32337764 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA247504958 rs_1054724641

3 SubmittersRCV000637336RCV003157746
NM_000059.4(BRCA2):c.3463A>C (p.Thr1155Pro) SNV
Germline		 Chr13:32337818 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387776750 rs_1555283257

3 SubmittersRCV000637456RCV002334085
NM_000059.4(BRCA2):c.5902T>C (p.Ser1968Pro) SNV
Germline		 Chr13:32340257 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387787498 rs_1555284455

4 SubmittersRCV000637778RCV001186734
NM_000059.4(BRCA2):c.3481G>A (p.Asp1161Asn) SNV
Germline		 Chr13:32337836 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387776859 rs_1555283261

3 SubmittersRCV000637777RCV004003851RCV003157797
NM_000059.4(BRCA2):c.4094G>C (p.Cys1365Ser) SNV
Germline		 Chr13:32338449 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387779231 rs_80358657

3 SubmittersRCV000637712RCV002325233
NM_000059.4(BRCA2):c.4162A>C (p.Thr1388Pro) SNV
Germline		 Chr13:32338517 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387780044 rs_1555283603

2 SubmittersRCV000637738RCV003157793
NM_000059.4(BRCA2):c.4545G>T (p.Lys1515Asn) SNV
Germline		 Chr13:32338900 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387781765 rs_1555283835

2 SubmittersRCV000637587RCV003157770
NM_000059.4(BRCA2):c.4749T>G (p.Ile1583Met) SNV
Germline		 Chr13:32339104 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387783080 rs_1555283929

2 SubmittersRCV000637647RCV003157779
NM_000059.4(BRCA2):c.4889C>T (p.Ser1630Leu) SNV
Germline		 Chr13:32339244 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387783518 rs_80358711

3 SubmittersRCV000637475RCV003157759
NM_000059.4(BRCA2):c.6731A>G (p.Lys2244Arg) SNV
Germline		 Chr13:32341086 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387791074 rs_1555284837

2 SubmittersRCV000637804RCV003157800
NM_000059.4(BRCA2):c.6782A>G (p.Glu2261Gly) SNV
Germline		 Chr13:32341137 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387791272 rs_1555284854

2 SubmittersRCV000637558RCV003157769
NM_000059.4(BRCA2):c.5271T>A (p.Tyr1757Ter) SNV
Germline		 Chr13:32339626 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387784744 rs_1555284139

3 SubmittersRCV000637580RCV001023837RCV003234786
NM_000059.4(BRCA2):c.5459G>C (p.Cys1820Ser) SNV
Germline		 Chr13:32339814 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387785631 rs_1555284235

2 SubmittersRCV000637622RCV003157776
NM_000059.4(BRCA2):c.5851A>G (p.Ser1951Gly) SNV
Germline		 Chr13:32340206 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387787395 rs_1212547389

3 SubmittersRCV000637445RCV003493687RCV003157754
NM_000059.4(BRCA2):c.5884A>G (p.Ile1962Val) SNV
Germline		 Chr13:32340239 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940908 rs_747406932

4 SubmittersRCV000656611RCV000637377RCV002358791
NM_000059.4(BRCA2):c.5890A>C (p.Lys1964Gln) SNV
Germline		 Chr13:32340245 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387787475 rs_1555284445

2 SubmittersRCV000637633RCV003157777
NM_000059.4(BRCA2):c.6278A>T (p.His2093Leu) SNV
Germline		 Chr13:32340633 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387788986 rs_1218113889

3 SubmittersRCV000637524RCV002358792
NM_000059.4(BRCA2):c.7007+2T>C SNV
Germline		 Chr13:32346898 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387793208 rs_886040937

4 SubmittersRCV000637553RCV001724110RCV002377382
NM_000059.4(BRCA2):c.8562T>A (p.Tyr2854Ter) SNV
Germline		 Chr13:32371030 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387752802 rs_786201333

2 SubmittersRCV000637354RCV003303008
NM_000059.4(BRCA2):c.10114G>A (p.Ala3372Thr) SNV
Germline		 Chr13:32398627 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387768044 rs_1555290046

3 SubmittersRCV000637769RCV004003850RCV003303010
NM_000059.4(BRCA2):c.516+2T>C SNV
Germline		 Chr13:32326284 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 CA387757754 rs_397507764

2 SubmittersRCV000637550
NM_000059.4(BRCA2):c.899T>G (p.Val300Gly) SNV
Germline		 Chr13:32332377 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387760677 rs_1555281625

2 SubmittersRCV000637733RCV003157792
NM_000059.4(BRCA2):c.1052A>T (p.Lys351Ile) SNV
Germline		 Chr13:32332530 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387761288 rs_1555281710

3 SubmittersRCV000637696RCV001186732
NM_000059.4(BRCA2):c.1415A>G (p.Gln472Arg) SNV
Germline		 Chr13:32332893 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387764207 rs_1555281903

2 SubmittersRCV000637543RCV003157767
NM_000059.4(BRCA2):c.1436A>C (p.Asp479Ala) SNV
Germline		 Chr13:32332914 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387764286 rs_1555281910

2 SubmittersRCV000637335RCV003157745
NM_000059.4(BRCA2):c.1490C>G (p.Ser497Ter) SNV
Germline		 Chr13:32332968 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387764450 rs_1064794018

3 SubmittersRCV000637545RCV000774812
NM_000059.4(BRCA2):c.1594G>C (p.Glu532Gln) SNV
Germline		 Chr13:32333072 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940529 rs_138734772

3 SubmittersRCV000637607RCV003157774
NM_000059.4(BRCA2):c.1728T>A (p.Asn576Lys) SNV
Germline		 Chr13:32333206 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA387765371 rs_1555282035

4 SubmittersRCV000637460RCV002406369RCV002509483
NM_000059.4(BRCA2):c.1820A>G (p.Lys607Arg) SNV
Germline		 Chr13:32333298 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 CA387766073 rs_55962656

6 SubmittersRCV001013305RCV000637739RCV001823155RCV004003848RCV001844207
NM_000059.4(BRCA2):c.2836G>T (p.Asp946Tyr) SNV
Germline		 Chr13:32337191 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387773871 rs_80358534

2 SubmittersRCV000637458RCV003157757
NM_000059.4(BRCA2):c.2842G>A (p.Val948Ile) SNV
Germline		 Chr13:32337197 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387773896 rs_1555282901

4 SubmittersRCV000637414RCV001016754
NM_000059.4(BRCA2):c.3002C>G (p.Ser1001Ter) SNV
Germline		 Chr13:32337357 Pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387774682 rs_1555283001

3 SubmittersRCV000637719RCV002469227RCV003352955
NM_000059.4(BRCA2):c.3184C>T (p.Pro1062Ser) SNV
Germline		 Chr13:32337539 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387775836 rs_1555283083

4 SubmittersRCV000637707RCV001019046RCV004003847
NM_000059.4(BRCA2):c.3323A>C (p.Lys1108Thr) SNV
Germline		 Chr13:32337678 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1		 Criteria Provided
Conflicting Classifications
 CA6940687 rs_765232270

4 SubmittersRCV000637783RCV003157798RCV003338700
NM_000059.4(BRCA2):c.3472G>A (p.Glu1158Lys) SNV
Germline		 Chr13:32337827 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387776802 rs_1555283258

2 SubmittersRCV000637537RCV003157764
NM_000059.4(BRCA2):c.3610G>T (p.Ala1204Ser) SNV
Germline		 Chr13:32337965 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA387777536 rs_1555283309

4 SubmittersRCV000637609RCV002458024RCV003144409
NM_000059.4(BRCA2):c.4327T>C (p.Phe1443Leu) SNV
Germline		 Chr13:32338682 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387780838 rs_1555283725

2 SubmittersRCV000637649RCV003157780
NM_000059.4(BRCA2):c.4337T>C (p.Ile1446Thr) SNV
Germline		 Chr13:32338692 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387780878 rs_1555283730

3 SubmittersRCV000637694RCV000758895RCV003157789
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile) SNV
Germline		 Chr13:32338751 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions		 Criteria Provided
Conflicting Classifications
 CA387781117 rs_1555283763

4 SubmittersRCV000637538RCV003157765RCV004003844RCV002499068
NM_000059.4(BRCA2):c.4454T>G (p.Ile1485Arg) SNV
Germline		 Chr13:32338809 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387781386 rs_1555283790

6 SubmittersRCV000637514RCV000985526RCV000989030RCV002331145
NM_000059.4(BRCA2):c.4501A>T (p.Asn1501Tyr) SNV
Germline		 Chr13:32338856 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387781582 rs_1555283811

2 SubmittersRCV000637512RCV003157762
NM_000059.4(BRCA2):c.4789T>G (p.Ser1597Ala) SNV
Germline		 Chr13:32339144 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387783235 rs_1555283935

3 SubmittersRCV000637772RCV002334089
NM_000059.4(BRCA2):c.4900T>C (p.Phe1634Leu) SNV
Germline		 Chr13:32339255 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387783553 rs_1555283982

2 SubmittersRCV000637663RCV003157783
NM_000059.4(BRCA2):c.4952C>G (p.Pro1651Arg) SNV
Germline		 Chr13:32339307 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387783762 rs_565268514

4 SubmittersRCV000637644RCV001192450RCV003157778
NM_000059.4(BRCA2):c.5432A>C (p.Glu1811Ala) SNV
Germline		 Chr13:32339787 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387785483 rs_1555284221

5 SubmittersRCV000637592RCV001186729RCV004003845
NM_000059.4(BRCA2):c.5872T>C (p.Cys1958Arg) SNV
Germline		 Chr13:32340227 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387787438 rs_1555284436

2 SubmittersRCV000637594RCV003157772
NM_000059.4(BRCA2):c.6415G>T (p.Glu2139Ter) SNV
Germline		 Chr13:32340770 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 CA387789266 rs_763639231

1 SubmittersRCV000637421
NM_000059.4(BRCA2):c.8332-2A>C SNV
Germline		 Chr13:32370400 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 CA387752308 rs_587782774

1 SubmittersRCV000637339
NM_000059.4(BRCA2):c.328C>A (p.Pro110Thr) SNV
Germline		 Chr13:32325087 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387756520 rs_1555280838

2 SubmittersRCV000637426RCV001019705
NM_000059.4(BRCA2):c.8954-1G>A SNV
Germline		 Chr13:32379749 Likely pathogenic Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387757355 rs_1555288435

4 SubmittersRCV000637479RCV001358060RCV003472000
NM_000059.4(BRCA2):c.978C>G (p.Ser326Arg) SNV
Germline		 Chr13:32332456 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA387760945 rs_28897706

6 SubmittersRCV000637859RCV002377386RCV003478365RCV002469228
NM_000059.4(BRCA2):c.1233A>G (p.Ile411Met) SNV
Germline		 Chr13:32332711 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387762198 rs_1555281784

4 SubmittersRCV000637579RCV001010467RCV003314631
NM_000059.4(BRCA2):c.1987T>C (p.Phe663Leu) SNV
Germline		 Chr13:32336342 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 CA387768631 rs_1555282387

3 SubmittersRCV000637323RCV003157742RCV004003838
NM_000059.4(BRCA2):c.2111C>T (p.Pro704Leu) SNV
Germline		 Chr13:32336466 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA6940581 rs_768323836

3 SubmittersRCV000637734RCV002420715
NM_000059.4(BRCA2):c.2489A>T (p.Asn830Ile) SNV
Germline		 Chr13:32336844 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387772405 rs_786202809

4 SubmittersRCV000637393RCV001756058RCV002424403
NM_000059.4(BRCA2):c.2527G>A (p.Ala843Thr) SNV
Germline		 Chr13:32336882 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387772480 rs_1555282730

2 SubmittersRCV000637751RCV003157795
NM_000059.4(BRCA2):c.3779T>G (p.Leu1260Ter) SNV
Germline		 Chr13:32338134 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387778317 rs_1555283397

2 SubmittersRCV000637372RCV000663247
NM_000059.4(BRCA2):c.3809T>C (p.Val1270Ala) SNV
Germline		 Chr13:32338164 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387778444 rs_1555283403

3 SubmittersRCV000637650RCV003157781
NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter) SNV
Germline		 Chr13:32338509 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387780011 rs_886038101

6 SubmittersRCV000637324RCV002223894RCV002272311RCV004568400
NM_020937.4(FANCM):c.5026G>A (p.Glu1676Lys) SNV
Germline		 Chr14:45189048 Conflicting classifications of pathogenicity Fanconi anemia
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7169893 rs_769919966

3 SubmittersRCV000631000RCV001030553RCV001797116
NM_000059.4(BRCA2):c.4433T>G (p.Leu1478Arg) SNV
Germline		 Chr13:32338788 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387781303 rs_1382689372

2 SubmittersRCV000637608RCV003157775
NM_000059.4(BRCA2):c.4876A>C (p.Asn1626His) SNV
Germline		 Chr13:32339231 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387783477 rs_1555283968

3 SubmittersRCV000637532RCV002331146
NM_000059.4(BRCA2):c.5075G>A (p.Trp1692Ter) SNV
Germline		 Chr13:32339430 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA387784070 rs_1555284058

2 SubmittersRCV000637341RCV003139964
NM_000059.4(BRCA2):c.6233G>A (p.Gly2078Glu) SNV
Germline		 Chr13:32340588 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387788896 rs_769883812

3 SubmittersRCV000637800RCV002360547
NM_000059.4(BRCA2):c.6409A>G (p.Asn2137Asp) SNV
Germline		 Chr13:32340764 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387789256 rs_1555284672

2 SubmittersRCV000637665RCV003157784
NM_000059.4(BRCA2):c.6649A>G (p.Lys2217Glu) SNV
Germline		 Chr13:32341004 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA387790385 rs_1555284779

3 SubmittersRCV000637437RCV003157753
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile) SNV
Germline		 Chr13:32370412 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA387752356 rs_1434821822

5 SubmittersRCV000637364RCV000772450RCV002477402RCV004568401
NM_000059.4(BRCA2):c.8954-11T>A SNV
Germline		 Chr13:32379739 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA658798072 rs_1555288427

2 SubmittersRCV000637834RCV001805769
NM_000059.4(BRCA2):c.9257-20T>G SNV
Germline		 Chr13:32394669 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA609093417 rs_1223021680

2 SubmittersRCV000637960RCV001193925
NM_000057.4(BLM):c.4022C>T (p.Ala1341Val) SNV
Germline		 Chr15:90811352 Conflicting classifications of pathogenicity Bloom syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA7739175 rs_201149857

3 SubmittersRCV000628645RCV001021691RCV001030462
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr) SNV
Germline		 Chr17:43067626 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10591407 rs_1555579648

5 SubmittersRCV000637812RCV000765358RCV001186735RCV001076299
NM_007294.4(BRCA1):c.3800T>G (p.Leu1267Ter) SNV
Germline		 Chr17:43091731 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Reviewed By Expert Panel
 CA10594370 rs_587782190

2 SubmittersRCV000637806RCV000661211
NM_007294.4(BRCA1):c.3750G>T (p.Glu1250Asp) SNV
Germline		 Chr17:43091781 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10594471 rs_145903082

3 SubmittersRCV000637671RCV003157785
NM_007294.4(BRCA1):c.1685T>C (p.Ile562Thr) SNV
Germline		 Chr17:43093846 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598660 rs_1555591375

3 SubmittersRCV000637496RCV001524262
NM_007294.4(BRCA1):c.1624A>G (p.Asn542Asp) SNV
Germline		 Chr17:43093907 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598793 rs_1555591461

3 SubmittersRCV000637565RCV002404782
NM_007294.4(BRCA1):c.1187A>G (p.Asp396Gly) SNV
Germline		 Chr17:43094344 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10599677 rs_1555592280

2 SubmittersRCV000637457RCV003157756
NM_007294.4(BRCA1):c.704A>G (p.Asn235Ser) SNV
Germline		 Chr17:43094827 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10600679 rs_1555593283

3 SubmittersRCV000637327RCV003157743RCV004003839
NM_007294.4(BRCA1):c.53T>G (p.Met18Arg) SNV
Germline		 Chr17:43124044 Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602052 rs_80356929

3 SubmittersRCV000637401RCV001072375
NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp) SNV
Germline		 Chr17:43057093 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10591069 rs_80357146

5 SubmittersRCV000637721RCV001072554RCV002334088RCV003478362
NM_007294.4(BRCA1):c.4897A>C (p.Ser1633Arg) SNV
Germline		 Chr17:43071017 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10591733 rs_1555580711

3 SubmittersRCV000637623RCV001023212RCV001073122
NM_007294.4(BRCA1):c.4676-2A>C SNV
Germline		 Chr17:43071240 Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 CA10592158 rs_80358096

2 SubmittersRCV000637605RCV003493689
NM_007294.4(BRCA1):c.4039A>T (p.Arg1347Ter) SNV
Germline		 Chr17:43091492 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10593880 rs_28897689

3 SubmittersRCV000637508RCV000776976
NM_007294.4(BRCA1):c.3791A>G (p.Lys1264Arg) SNV
Germline		 Chr17:43091740 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10594389 rs_1555587039

2 SubmittersRCV000637412RCV003157752
NM_007294.4(BRCA1):c.3548A>T (p.Lys1183Ile) SNV
Germline		 Chr17:43091983 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10594869 rs_16942

4 SubmittersRCV000776822RCV000637591
NM_007294.4(BRCA1):c.3344A>T (p.Glu1115Val) SNV
Germline		 Chr17:43092187 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595285 rs_1555587933

3 SubmittersRCV000637390RCV001020046
NM_007294.4(BRCA1):c.3238T>G (p.Leu1080Val) SNV
Germline		 Chr17:43092293 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595506 rs_754597283

4 SubmittersRCV000637367RCV004003840RCV003157749
NM_007294.4(BRCA1):c.3200A>G (p.Asn1067Ser) SNV
Germline		 Chr17:43092331 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595581 rs_1555588214

3 SubmittersRCV000637610RCV001019158
NM_007294.4(BRCA1):c.3194A>T (p.Asp1065Val) SNV
Germline		 Chr17:43092337 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595596 rs_1555588228

2 SubmittersRCV000637656RCV003157782
NM_007294.4(BRCA1):c.2985G>T (p.Lys995Asn) SNV
Germline		 Chr17:43092546 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596027 rs_1555588591

2 SubmittersRCV000637726RCV003157790
NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala) SNV
Germline		 Chr17:43049164 Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 CA10590739 rs_80357069

4 SubmittersRCV000637802RCV001076846
NM_007294.4(BRCA1):c.2816T>C (p.Val939Ala) SNV
Germline		 Chr17:43092715 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10596359 rs_1555588894

6 SubmittersRCV000637329RCV000773237RCV001294024RCV001766361
NM_007294.4(BRCA1):c.2728C>G (p.Gln910Glu) SNV
Germline		 Chr17:43092803 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596535 rs_397509004

3 SubmittersRCV000637654RCV002458025
NM_007294.4(BRCA1):c.2564A>G (p.Gln855Arg) SNV
Germline		 Chr17:43092967 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596864 rs_768001441

3 SubmittersRCV000637557RCV002424405
NM_007294.4(BRCA1):c.2217A>C (p.Lys739Asn) SNV
Germline		 Chr17:43093314 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597564 rs_200521980

2 SubmittersRCV000637595RCV003157773
NM_007294.4(BRCA1):c.5269G>A (p.Asp1757Asn) SNV
Germline		 Chr17:43057060 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10591017 rs_863224764

4 SubmittersRCV000637363RCV001072596RCV001192498RCV002334084
NM_007294.4(BRCA1):c.2174G>C (p.Ser725Thr) SNV
Germline		 Chr17:43093357 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10597655 rs_1555590284

2 SubmittersRCV000637333RCV003157744
NM_007294.4(BRCA1):c.1934C>G (p.Ser645Cys) SNV
Germline		 Chr17:43093597 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10598158 rs_80357129

4 SubmittersRCV000637408RCV001013643RCV004003842
NM_007294.4(BRCA1):c.1701T>G (p.Asn567Lys) SNV
Germline		 Chr17:43093830 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10598622 rs_1555591359

6 SubmittersRCV000637745RCV002509486RCV003157794RCV004003849RCV003317311
NM_007294.4(BRCA1):c.1620G>C (p.Glu540Asp) SNV
Germline		 Chr17:43093911 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598803 rs_1555591465

3 SubmittersRCV000637540RCV003157766
NM_007294.4(BRCA1):c.1538A>G (p.His513Arg) SNV
Germline		 Chr17:43093993 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598976 rs_1356078500

2 SubmittersRCV000637676RCV003157786
NM_007294.4(BRCA1):c.1142A>G (p.Lys381Arg) SNV
Germline		 Chr17:43094389 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10599774 rs_1555592379

5 SubmittersRCV000637403RCV001591422RCV003330855RCV003157751
NM_007294.4(BRCA1):c.881A>G (p.Lys294Arg) SNV
Germline		 Chr17:43094650 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10600314 rs_1555592934

2 SubmittersRCV000637501RCV003157761
NM_007294.4(BRCA1):c.3368A>T (p.Asp1123Val) SNV
Germline		 Chr17:43092163 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595243 rs_1555587851

3 SubmittersRCV000637531RCV001193190RCV003157763
NM_007294.4(BRCA1):c.3361A>G (p.Asn1121Asp) SNV
Germline		 Chr17:43092170 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595259 rs_876660526

3 SubmittersRCV000637495RCV002325231
NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala) SNV
Germline		 Chr17:43092427 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10595778 rs_1555588389

4 SubmittersRCV000637337RCV000764120RCV003157747
NM_007294.4(BRCA1):c.2734A>C (p.Lys912Gln) SNV
Germline		 Chr17:43092797 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596524 rs_1555589048

3 SubmittersRCV000637379RCV002438688
NM_007294.4(BRCA1):c.2215A>C (p.Lys739Gln) SNV
Germline		 Chr17:43093316 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10597568 rs_56329598

5 SubmittersRCV000637400RCV000773027RCV001354965
NM_007294.4(BRCA1):c.134+3A>T SNV
Germline		 Chr17:43115723 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA658798847 rs_80358064

5 SubmittersRCV000637525RCV001076221RCV001284530RCV002386027
NM_007294.4(BRCA1):c.1762A>G (p.Ser588Gly) SNV
Germline		 Chr17:43093769 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10598504 rs_1169162396

4 SubmittersRCV000637392RCV000772446RCV003478360
NM_007294.4(BRCA1):c.1201G>A (p.Gly401Arg) SNV
Germline		 Chr17:43094330 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10599648 rs_1555592242

4 SubmittersRCV000637378RCV001525444RCV004003841
NM_007294.4(BRCA1):c.5211A>G (p.Arg1737=) SNV
Germline		 Chr17:43057118 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA500144828 rs_1555576963

6 SubmittersRCV000637871RCV001077035RCV001190949
NM_007294.4(BRCA1):c.4576G>A (p.Glu1526Lys) SNV
Germline		 Chr17:43074430 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10592363 rs_878853294

2 SubmittersRCV000637480RCV002334086
NM_007294.4(BRCA1):c.3556C>T (p.Leu1186Phe) SNV
Germline		 Chr17:43091975 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA1-related disorder
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10594852 rs_1555587505

8 SubmittersRCV000637424RCV001186451RCV002282275RCV003441987RCV004554814RCV004003843
NM_007294.4(BRCA1):c.2941C>A (p.Pro981Thr) SNV
Germline		 Chr17:43092590 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596116 rs_1555588677

3 SubmittersRCV000637395RCV002258980
NM_007294.4(BRCA1):c.2579C>T (p.Thr860Ile) SNV
Germline		 Chr17:43092952 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10596831 rs_1555589337

2 SubmittersRCV000637394RCV003157750
NM_007294.4(BRCA1):c.1969C>A (p.Gln657Lys) SNV
Germline		 Chr17:43093562 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10598080 rs_397508926

2 SubmittersRCV000637688RCV003157787
NM_007294.4(BRCA1):c.1000C>A (p.Pro334Thr) SNV
Germline		 Chr17:43094531 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10600062 rs_1555592700

3 SubmittersRCV000637736RCV001009655
NM_007294.4(BRCA1):c.742A>G (p.Thr248Ala) SNV
Germline		 Chr17:43094789 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10600599 rs_879255288

4 SubmittersRCV000637693RCV001269131RCV002386030
NM_007294.4(BRCA1):c.423A>G (p.Glu141=) SNV
Germline		 Chr17:43104140 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA500126666 rs_777102216

4 SubmittersRCV000637951RCV001022115RCV001766363RCV000779892
NM_007294.4(BRCA1):c.302-8T>C SNV
Germline		 Chr17:43104269 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA658798835 rs_878854942

2 SubmittersRCV000637928RCV003478366
NM_007294.4(BRCA1):c.302-9A>G SNV
Germline		 Chr17:43104270 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA658798836 rs_1389128798

3 SubmittersRCV000637888RCV000774862RCV001800836
NM_000059.4(BRCA2):c.4025G>A (p.Ser1342Asn) SNV
Germline		 Chr13:32338380 Conflicting classifications of pathogenicity Breast cancer, susceptibility to
Infiltrating duct carcinoma of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Ovarian cancer
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1270552356

7 SubmittersRCV000656474RCV000677837RCV000774996RCV002534246RCV003153793RCV004527716
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile) SNV
Germline		 Chr13:32363367 Likely pathogenic Breast cancer, susceptibility to
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80359062

3 SubmittersRCV000656473RCV000818447RCV001027236
NM_000059.4(BRCA2):c.4045A>G (p.Ile1349Val) SNV
Germline		 Chr13:32338400 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_780544697

4 SubmittersRCV000656600RCV001855349RCV003234787RCV003157804
NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter) SNV
Germline		 Chr13:32338058 Pathogenic/Likely pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555283366

5 SubmittersRCV000657710RCV000781127RCV002343403
NM_058216.3(RAD51C):c.532C>T (p.Gln178Ter) SNV
Germline		 Chr17:58696820 Pathogenic/Likely pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555594861

3 SubmittersRCV000657584RCV003323660RCV003465427
NM_000059.4(BRCA2):c.2133C>A (p.Cys711Ter) SNV
Germline		 Chr13:32336488 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Reviewed By Expert Panel
 rs_535547513

3 SubmittersRCV000661794RCV000807132RCV003472058
NM_000535.7(PMS2):c.1798A>G (p.Met600Val) SNV
Germline		 Chr7:5986967 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Lynch syndrome		 Criteria Provided
Conflicting Classifications
 rs_1304634005

9 SubmittersRCV000772030RCV000662640RCV001061729RCV001358228RCV001030721RCV004004206
NM_007294.4(BRCA1):c.5194-10T>C SNV
Germline		 Chr17:43057145 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555576995

4 SubmittersRCV000663006RCV000943923RCV001177938
NM_007294.4(BRCA1):c.1016A>G (p.Lys339Arg) SNV
Germline		 Chr17:43094515 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587781737

3 SubmittersRCV000664302RCV003157805
NM_000051.4(ATM):c.7708G>T (p.Glu2570Ter) SNV
Germline		 Chr11:108331957 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555124587

3 SubmittersRCV000675185RCV001026738RCV004026140
NM_000059.4(BRCA2):c.3875T>A (p.Leu1292Gln) SNV
Germline		 Chr13:32338230 Conflicting classifications of pathogenicity Ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283446

3 SubmittersRCV000677828RCV001208588RCV003157807
NM_000059.4(BRCA2):c.2803G>T (p.Asp935Tyr) SNV
Germline		 Chr13:32337158 Conflicting classifications of pathogenicity Ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_28897716

4 SubmittersRCV000677849RCV001205781RCV002440415
NM_000059.4(BRCA2):c.5368G>C (p.Val1790Leu) SNV
Germline		 Chr13:32339723 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566232328

4 SubmittersRCV000679177RCV001302750RCV002343424
NM_000465.4(BARD1):c.159-1G>A SNV
Germline		 Chr2:214797118 Pathogenic/Likely pathogenic Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_879254139

4 SubmittersRCV000702035RCV000780948RCV004026577
NM_000465.4(BARD1):c.1569-7T>G SNV
Germline		 Chr2:214752562 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1559395026

3 SubmittersRCV000703040RCV003482152
NM_000059.4(BRCA2):c.283G>A (p.Val95Ile) SNV
Germline		 Chr13:32319292 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566216059

2 SubmittersRCV000707604RCV002440557
NM_000059.4(BRCA2):c.794-2A>G SNV
Germline		 Chr13:32332270 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 rs_1566222053

8 SubmittersRCV000688852RCV000985594RCV002422484RCV003472195
NM_000059.4(BRCA2):c.1235C>G (p.Pro412Arg) SNV
Germline		 Chr13:32332713 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876659628

3 SubmittersRCV000687886RCV003157827
NM_000059.4(BRCA2):c.1706A>G (p.Gln569Arg) SNV
Germline		 Chr13:32333184 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566224153

4 SubmittersRCV000704219RCV001184333
NM_000059.4(BRCA2):c.1864G>A (p.Ala622Thr) SNV
Germline		 Chr13:32333342 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566224537

3 SubmittersRCV000689741RCV002406552
NM_000059.4(BRCA2):c.2039C>G (p.Thr680Arg) SNV
Germline		 Chr13:32336394 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566226005

3 SubmittersRCV000704126RCV002422589
NM_000059.4(BRCA2):c.2183A>C (p.Asp728Ala) SNV
Germline		 Chr13:32336538 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_757577670

4 SubmittersRCV000692499RCV001014716
NM_000059.4(BRCA2):c.2266C>G (p.Gln756Glu) SNV
Germline		 Chr13:32336621 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1057518637

4 SubmittersRCV000700822RCV001775972RCV002442500
NM_000059.4(BRCA2):c.2347G>C (p.Val783Leu) SNV
Germline		 Chr13:32336702 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566226546

2 SubmittersRCV000690022RCV003157833
NM_000059.4(BRCA2):c.2408A>C (p.Tyr803Ser) SNV
Germline		 Chr13:32336763 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566226664

2 SubmittersRCV000685915RCV003157817
NM_000059.4(BRCA2):c.2983G>A (p.Gly995Arg) SNV
Germline		 Chr13:32337338 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_886040457

3 SubmittersRCV000704538RCV001184335
NM_000059.4(BRCA2):c.2992G>A (p.Gly998Ser) SNV
Germline		 Chr13:32337347 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_777615894

3 SubmittersRCV000693894RCV002440465
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val) SNV
Germline		 Chr13:32337375 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions		 Criteria Provided
Conflicting Classifications
 rs_1566227648

4 SubmittersRCV000691289RCV001018076RCV002485644
NM_000059.4(BRCA2):c.3104A>G (p.Glu1035Gly) SNV
Germline		 Chr13:32337459 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566227803

2 SubmittersRCV000706668RCV003158082
NM_000059.4(BRCA2):c.3636T>G (p.Asn1212Lys) SNV
Germline		 Chr13:32337991 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283324

4 SubmittersRCV000696502RCV000773895
NM_000059.4(BRCA2):c.3768T>A (p.His1256Gln) SNV
Germline		 Chr13:32338123 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566229121

3 SubmittersRCV000692959RCV002343469
NM_000059.4(BRCA2):c.3779T>A (p.Leu1260Ter) SNV
Germline		 Chr13:32338134 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1555283397

1 SubmittersRCV000702361
NM_000059.4(BRCA2):c.3859A>C (p.Asn1287His) SNV
Germline		 Chr13:32338214 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566229283

2 SubmittersRCV000699122RCV003158054
NM_000059.4(BRCA2):c.3901A>T (p.Thr1301Ser) SNV
Germline		 Chr13:32338256 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_779899032

5 SubmittersRCV000698638RCV000772743RCV001293520
NM_000059.4(BRCA2):c.4096C>G (p.Leu1366Val) SNV
Germline		 Chr13:32338451 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566229657

2 SubmittersRCV000695644RCV003158038
NM_000059.4(BRCA2):c.4381T>G (p.Ser1461Ala) SNV
Germline		 Chr13:32338736 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060502490

3 SubmittersRCV000688123RCV002331339
NM_000059.4(BRCA2):c.4712A>T (p.Glu1571Val) SNV
Germline		 Chr13:32339067 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_766833528

3 SubmittersRCV000704203RCV002250686RCV003158073
NM_000059.4(BRCA2):c.4735G>C (p.Ala1579Pro) SNV
Germline		 Chr13:32339090 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566231045

2 SubmittersRCV000703403RCV003158069
NM_000059.4(BRCA2):c.5049G>C (p.Gln1683His) SNV
Germline		 Chr13:32339404 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_773973434

3 SubmittersRCV000703400RCV002334370
NM_000059.4(BRCA2):c.5074T>A (p.Trp1692Arg) SNV
Germline		 Chr13:32339429 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566231669

2 SubmittersRCV000689387RCV003157829
NM_000059.4(BRCA2):c.5161A>G (p.Asn1721Asp) SNV
Germline		 Chr13:32339516 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1443102794

3 SubmittersRCV000689790RCV001525329
NM_000059.4(BRCA2):c.5327T>G (p.Leu1776Trp) SNV
Germline		 Chr13:32339682 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566232213

4 SubmittersRCV000691267RCV000777629
NM_000059.4(BRCA2):c.6001T>C (p.Ser2001Pro) SNV
Germline		 Chr13:32340356 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_939633265

3 SubmittersRCV000686403RCV001024794
NM_000059.4(BRCA2):c.6057C>A (p.Asn2019Lys) SNV
Germline		 Chr13:32340412 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_147961615

4 SubmittersRCV000702139RCV001183819
NM_000059.4(BRCA2):c.6072G>T (p.Gln2024His) SNV
Germline		 Chr13:32340427 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566233838

3 SubmittersRCV000701875RCV002352194
NM_000059.4(BRCA2):c.6269A>T (p.His2090Leu) SNV
Germline		 Chr13:32340624 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507366

3 SubmittersRCV000686229RCV002360715
NM_000059.4(BRCA2):c.6302A>G (p.Asn2101Ser) SNV
Germline		 Chr13:32340657 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566234294

3 SubmittersRCV000688725RCV001025110
NM_000059.4(BRCA2):c.6647C>T (p.Ser2216Phe) SNV
Germline		 Chr13:32341002 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555284777

3 SubmittersRCV000699491RCV000773526
NM_000059.4(BRCA2):c.6714T>A (p.Asp2238Glu) SNV
Germline		 Chr13:32341069 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_28897742

4 SubmittersRCV000688362RCV002360727RCV004004280
NM_000059.4(BRCA2):c.7435+2T>A SNV
Germline		 Chr13:32355290 Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1434072252

2 SubmittersRCV000705322RCV004026685
NM_000059.4(BRCA2):c.8755-2A>C SNV
Germline		 Chr13:32379315 Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566252482

2 SubmittersRCV000688029RCV003316797
NM_000059.4(BRCA2):c.8920A>G (p.Ile2974Val) SNV
Germline		 Chr13:32379482 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1197950867

2 SubmittersRCV000704729RCV002369955
NM_000059.4(BRCA2):c.998T>C (p.Phe333Ser) SNV
Germline		 Chr13:32332476 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_781464949

4 SubmittersRCV000704702RCV001190684
NM_000059.4(BRCA2):c.1142A>G (p.Asp381Gly) SNV
Germline		 Chr13:32332620 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_769297468

3 SubmittersRCV000701259RCV001017418
NM_000059.4(BRCA2):c.1312G>T (p.Asp438Tyr) SNV
Germline		 Chr13:32332790 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_765436962

6 SubmittersRCV000690507RCV000774909RCV003478411RCV003999547
NM_000059.4(BRCA2):c.1358C>G (p.Pro453Arg) SNV
Germline		 Chr13:32332836 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_754587041

4 SubmittersRCV000687015RCV000758863RCV003157822RCV004004257
NM_000059.4(BRCA2):c.1453A>G (p.Lys485Glu) SNV
Germline		 Chr13:32332931 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566223599

5 SubmittersRCV000706447RCV001184337
NM_000059.4(BRCA2):c.1726A>G (p.Asn576Asp) SNV
Germline		 Chr13:32333204 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566224180

3 SubmittersRCV000706183RCV003158079
NM_000059.4(BRCA2):c.1765A>G (p.Lys589Glu) SNV
Germline		 Chr13:32333243 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587781801

5 SubmittersRCV000695613RCV002256475
NM_000059.4(BRCA2):c.2144G>C (p.Gly715Ala) SNV
Germline		 Chr13:32336499 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566226193

3 SubmittersRCV000691258RCV001756181RCV003158023
NM_000059.4(BRCA2):c.2154A>C (p.Glu718Asp) SNV
Germline		 Chr13:32336509 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566226220

2 SubmittersRCV000704771RCV003158074
NM_000059.4(BRCA2):c.2633A>G (p.Asp878Gly) SNV
Germline		 Chr13:32336988 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_765618026

5 SubmittersRCV000697478RCV001555337RCV001797785RCV003158048RCV003999666
NM_000059.4(BRCA2):c.3274T>C (p.Phe1092Leu) SNV
Germline		 Chr13:32337629 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566228206

3 SubmittersRCV000699591RCV002442490
NM_000059.4(BRCA2):c.3311C>T (p.Thr1104Ile) SNV
Germline		 Chr13:32337666 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566228273

3 SubmittersRCV000706587RCV002325433
NM_000059.4(BRCA2):c.3443A>T (p.Gln1148Leu) SNV
Germline		 Chr13:32337798 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_200808363

2 SubmittersRCV000705911RCV003158077
NM_000059.4(BRCA2):c.3949A>G (p.Thr1317Ala) SNV
Germline		 Chr13:32338304 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122773

2 SubmittersRCV000700895RCV003158060
NM_000059.4(BRCA2):c.3986G>A (p.Arg1329Lys) SNV
Germline		 Chr13:32338341 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566229484

2 SubmittersRCV000691965RCV003158026
NM_000059.4(BRCA2):c.4004A>G (p.Glu1335Gly) SNV
Germline		 Chr13:32338359 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566229501

2 SubmittersRCV000688598RCV003157828
NM_000059.4(BRCA2):c.4298G>A (p.Gly1433Glu) SNV
Germline		 Chr13:32338653 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_758795405

4 SubmittersRCV000702761RCV000758892RCV002332491
NM_000059.4(BRCA2):c.4823A>G (p.Glu1608Gly) SNV
Germline		 Chr13:32339178 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_766855850

2 SubmittersRCV000696621RCV003158044
NM_000059.4(BRCA2):c.4952C>T (p.Pro1651Leu) SNV
Germline		 Chr13:32339307 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_565268514

6 SubmittersRCV000705847RCV000985536RCV001524910RCV003999771
NM_000059.4(BRCA2):c.5192A>G (p.His1731Arg) SNV
Germline		 Chr13:32339547 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_765259371

5 SubmittersRCV000699255RCV001284090RCV002334341
NM_000057.4(BLM):c.137A>G (p.Asn46Ser) SNV
Germline		 Chr15:90749405 Conflicting classifications of pathogenicity Bloom syndrome
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1237910576

4 SubmittersRCV000699899RCV001030678RCV002386236
NM_000059.4(BRCA2):c.5504A>G (p.Asn1835Ser) SNV
Germline		 Chr13:32339859 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1282916502

3 SubmittersRCV000700320RCV003158058RCV003478433
NM_000059.4(BRCA2):c.5567A>G (p.His1856Arg) SNV
Germline		 Chr13:32339922 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566232680

4 SubmittersRCV000690379RCV003234788RCV003158020
NM_000059.4(BRCA2):c.5736A>C (p.Glu1912Asp) SNV
Germline		 Chr13:32340091 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566233116

2 SubmittersRCV000685985RCV003157818
NM_000059.4(BRCA2):c.5911T>C (p.Ser1971Pro) SNV
Germline		 Chr13:32340266 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566233504

2 SubmittersRCV000707701RCV003158086
NM_000059.4(BRCA2):c.6061C>T (p.His2021Tyr) SNV
Germline		 Chr13:32340416 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566233813

3 SubmittersRCV000706136RCV002352214
NM_000059.4(BRCA2):c.6196G>T (p.Val2066Phe) SNV
Germline		 Chr13:32340551 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507365

2 SubmittersRCV000691596RCV003158024
NM_000059.4(BRCA2):c.6220C>T (p.His2074Tyr) SNV
Germline		 Chr13:32340575 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_34309943

3 SubmittersRCV000697640RCV000776357
NM_000059.4(BRCA2):c.6282T>A (p.Tyr2094Ter) SNV
Germline		 Chr13:32340637 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1566234249

1 SubmittersRCV000695620
NM_000059.4(BRCA2):c.6286C>T (p.Pro2096Ser) SNV
Germline		 Chr13:32340641 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1309257585

3 SubmittersRCV000700111RCV002360793
NM_000059.4(BRCA2):c.6505A>T (p.Thr2169Ser) SNV
Germline		 Chr13:32340860 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1471965041

4 SubmittersRCV000700191RCV001186495RCV003483711
NM_000059.4(BRCA2):c.6511G>A (p.Val2171Met) SNV
Germline		 Chr13:32340866 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566234797

2 SubmittersRCV000690783RCV003158021
NM_000059.4(BRCA2):c.6821G>A (p.Gly2274Glu) SNV
Germline		 Chr13:32341176 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_55712212

2 SubmittersRCV000698869RCV003158053
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter) SNV
Germline		 Chr13:32344575 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_876661261

2 SubmittersRCV000697327RCV002360780
NM_000059.4(BRCA2):c.8210T>A (p.Leu2737Ter) SNV
Germline		 Chr13:32363412 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1566245715

1 SubmittersRCV000695375
NM_000059.4(BRCA2):c.9270C>G (p.Phe3090Leu) SNV
Germline		 Chr13:32394702 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587780873

2 SubmittersRCV000686805RCV002369831
NM_000059.4(BRCA2):c.9706A>T (p.Lys3236Ter) SNV
Germline		 Chr13:32398219 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80359239

2 SubmittersRCV000706708RCV003141708
NM_024675.4(PALB2):c.97G>C (p.Ala33Pro) SNV
Germline		 Chr16:23638081 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_747302288

2 SubmittersRCV000689943RCV003483707
NM_000059.4(BRCA2):c.818C>T (p.Ser273Leu) SNV
Germline		 Chr13:32332296 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_80359068

5 SubmittersRCV000686235RCV002424586RCV003478403RCV004004244
NM_000059.4(BRCA2):c.1418A>C (p.His473Pro) SNV
Germline		 Chr13:32332896 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358430

2 SubmittersRCV000697642RCV003158049
NM_000059.4(BRCA2):c.2008T>C (p.Cys670Arg) SNV
Germline		 Chr13:32336363 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566225927

2 SubmittersRCV000699997RCV003158057
NM_000059.4(BRCA2):c.2078G>A (p.Cys693Tyr) SNV
Germline		 Chr13:32336433 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_771226774

4 SubmittersRCV000703516RCV000772734
NM_000059.4(BRCA2):c.2183A>T (p.Asp728Val) SNV
Germline		 Chr13:32336538 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_757577670

2 SubmittersRCV000701244RCV003158062
NM_000059.4(BRCA2):c.2476G>A (p.Glu826Lys) SNV
Germline		 Chr13:32336831 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1566226803

5 SubmittersRCV000694642RCV001015652RCV001193885
NM_000059.4(BRCA2):c.2815A>G (p.Thr939Ala) SNV
Germline		 Chr13:32337170 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566227305

2 SubmittersRCV000701932RCV003158066
NM_000059.4(BRCA2):c.3044A>C (p.Lys1015Thr) SNV
Germline		 Chr13:32337399 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1000398743

6 SubmittersRCV000696911RCV000985490RCV001186599RCV003999662
NM_000059.4(BRCA2):c.3110A>G (p.Gln1037Arg) SNV
Germline		 Chr13:32337465 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566227808

3 SubmittersRCV000686068RCV000775691
NM_000059.4(BRCA2):c.3611C>T (p.Ala1204Val) SNV
Germline		 Chr13:32337966 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566228843

3 SubmittersRCV000691212RCV002458230
NM_000059.4(BRCA2):c.3659A>G (p.Tyr1220Cys) SNV
Germline		 Chr13:32338014 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566228915

2 SubmittersRCV000690016RCV003157832
NM_000059.4(BRCA2):c.3989A>T (p.Asn1330Ile) SNV
Germline		 Chr13:32338344 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1057520792

2 SubmittersRCV000706055RCV003158078
NM_000059.4(BRCA2):c.4295G>A (p.Ser1432Asn) SNV
Germline		 Chr13:32338650 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566230025

3 SubmittersRCV000694470RCV001022228
NM_000059.4(BRCA2):c.4559C>G (p.Thr1520Ser) SNV
Germline		 Chr13:32338914 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_747993489

6 SubmittersRCV000687215RCV000772749RCV003442019RCV003493703
NM_000059.4(BRCA2):c.4633C>T (p.Leu1545Phe) SNV
Germline		 Chr13:32338988 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566230846

2 SubmittersRCV000698794RCV003158052
NM_000059.4(BRCA2):c.4654G>A (p.Gly1552Ser) SNV
Germline		 Chr13:32339009 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566230890

2 SubmittersRCV000687114RCV003157823
NM_000059.4(BRCA2):c.5131G>T (p.Val1711Leu) SNV
Germline		 Chr13:32339486 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782067

3 SubmittersRCV000695492RCV001023596
NM_000059.4(BRCA2):c.5145G>C (p.Leu1715Phe) SNV
Germline		 Chr13:32339500 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566231804

3 SubmittersRCV000695099RCV002334311
NM_000059.4(BRCA2):c.5284T>C (p.Tyr1762His) SNV
Germline		 Chr13:32339639 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1192019733

3 SubmittersRCV000702897RCV003158068
NM_000059.4(BRCA2):c.5300A>G (p.Lys1767Arg) SNV
Germline		 Chr13:32339655 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1375943534

2 SubmittersRCV000704116RCV003158072
NM_000059.4(BRCA2):c.5806A>G (p.Met1936Val) SNV
Germline		 Chr13:32340161 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1566233265

5 SubmittersRCV000695128RCV001184332RCV001798960RCV003999633
NM_000059.4(BRCA2):c.5871A>G (p.Ile1957Met) SNV
Germline		 Chr13:32340226 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566233369

3 SubmittersRCV000702885RCV002352197
NM_000059.4(BRCA2):c.5878T>C (p.Cys1960Arg) SNV
Germline		 Chr13:32340233 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566233377

2 SubmittersRCV000693579RCV003158033
NM_000059.4(BRCA2):c.5917A>G (p.Asn1973Asp) SNV
Germline		 Chr13:32340272 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555284460

2 SubmittersRCV000696858RCV003158046
NM_000059.4(BRCA2):c.6053G>T (p.Ser2018Ile) SNV
Germline		 Chr13:32340408 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566233796

2 SubmittersRCV000687254RCV003157824
NM_000059.4(BRCA2):c.6067G>T (p.Asp2023Tyr) SNV
Germline		 Chr13:32340422 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1478738690

2 SubmittersRCV000696234RCV003158042
NM_000059.4(BRCA2):c.6117A>C (p.Leu2039Phe) SNV
Germline		 Chr13:32340472 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1566233950

4 SubmittersRCV000685899RCV001024910RCV001193357
NM_000059.4(BRCA2):c.6279C>A (p.His2093Gln) SNV
Germline		 Chr13:32340634 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566234239

2 SubmittersRCV000696755RCV003158045
NM_000059.4(BRCA2):c.6655T>G (p.Ser2219Ala) SNV
Germline		 Chr13:32341010 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566235100

2 SubmittersRCV000687456RCV003157826
NM_000059.4(BRCA2):c.6769C>T (p.Pro2257Ser) SNV
Germline		 Chr13:32341124 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566235374

2 SubmittersRCV000703424RCV003158070
NM_000059.4(BRCA2):c.6815G>A (p.Arg2272Lys) SNV
Germline		 Chr13:32341170 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_199522406

5 SubmittersRCV000689614RCV000758936RCV001025681RCV002509514
NM_000059.4(BRCA2):c.7867C>T (p.His2623Tyr) SNV
Germline		 Chr13:32362584 Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566244783

2 SubmittersRCV000695105RCV002406594
NM_000059.4(BRCA2):c.8417C>G (p.Ser2806Ter) SNV
Germline		 Chr13:32370487 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_587782785

1 SubmittersRCV000697446
NM_000059.4(BRCA2):c.9421G>A (p.Gly3141Arg) SNV
Germline		 Chr13:32394853 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566259143

3 SubmittersRCV000696193RCV003584716
NM_007294.4(BRCA1):c.5540G>T (p.Cys1847Phe) SNV
Germline		 Chr17:43045730 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1182000313

3 SubmittersRCV000706010RCV001077575RCV003303193
NM_007294.4(BRCA1):c.5267A>G (p.Gln1756Arg) SNV
Germline		 Chr17:43057062 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1567764257

4 SubmittersRCV000704503RCV001077105RCV002334379RCV003478442
NM_007294.4(BRCA1):c.5176A>T (p.Arg1726Ter) SNV
Germline		 Chr17:43063350 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 rs_80357501

2 SubmittersRCV000690817RCV001072429
NM_007294.4(BRCA1):c.4084G>A (p.Asp1362Asn) SNV
Germline		 Chr17:43091447 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_775463394

3 SubmittersRCV000697954RCV001524537
NM_007294.4(BRCA1):c.3532A>G (p.Ser1178Gly) SNV
Germline		 Chr17:43091999 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567791298

3 SubmittersRCV000707064RCV000758811RCV003158085
NM_007294.4(BRCA1):c.3476T>A (p.Ile1159Lys) SNV
Germline		 Chr17:43092055 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567791496

2 SubmittersRCV000701374RCV003158063
NM_007294.4(BRCA1):c.3230G>A (p.Gly1077Glu) SNV
Germline		 Chr17:43092301 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_1567792424

7 SubmittersRCV000702858RCV000773902RCV000758808RCV003493714
NM_007294.4(BRCA1):c.3223A>G (p.Asn1075Asp) SNV
Germline		 Chr17:43092308 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567792459

3 SubmittersRCV000694966RCV002442460
NM_007294.4(BRCA1):c.2845G>A (p.Gly949Ser) SNV
Germline		 Chr17:43092686 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1324818767

2 SubmittersRCV000702344RCV003158067
NM_007294.4(BRCA1):c.2758G>T (p.Val920Leu) SNV
Germline		 Chr17:43092773 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_80357361

4 SubmittersRCV000687910RCV001016516RCV001251258
NM_007294.4(BRCA1):c.2563C>A (p.Gln855Lys) SNV
Germline		 Chr17:43092968 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357131

3 SubmittersRCV000689658RCV001001340RCV003157830
NM_007294.4(BRCA1):c.2437G>A (p.Gly813Arg) SNV
Germline		 Chr17:43093094 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357186

3 SubmittersRCV000686164RCV000773714
NM_007294.4(BRCA1):c.2345G>T (p.Ser782Ile) SNV
Germline		 Chr17:43093186 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567796012

3 SubmittersRCV000689668RCV001015243
NM_007294.4(BRCA1):c.1892T>C (p.Leu631Pro) SNV
Germline		 Chr17:43093639 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1386991114

2 SubmittersRCV000692858RCV003158030
NM_007294.4(BRCA1):c.1792T>G (p.Leu598Val) SNV
Germline		 Chr17:43093739 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060504554

3 SubmittersRCV000698351RCV002406607
NM_007294.4(BRCA1):c.1531G>A (p.Gly511Ser) SNV
Germline		 Chr17:43094000 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1567799248

4 SubmittersRCV000705840RCV002397481RCV003999770
NM_007294.4(BRCA1):c.638G>A (p.Arg213Lys) SNV
Germline		 Chr17:43095878 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567803140

2 SubmittersRCV000701969RCV002360803
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr) SNV
Germline		 Chr17:43115739 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1060502353

7 SubmittersRCV000704369RCV001077001RCV001184334
NM_007294.4(BRCA1):c.14C>T (p.Ala5Val) SNV
Germline		 Chr17:43124083 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1335137805

4 SubmittersRCV000698926RCV001077640RCV002388292
NM_000546.6(TP53):c.534C>A (p.His178Gln) SNV
Germline		 Chr17:7675078 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555526001

3 SubmittersRCV000698003RCV001023959RCV002307599
NM_007294.4(BRCA1):c.3976C>T (p.His1326Tyr) SNV
Germline		 Chr17:43091555 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567789376

2 SubmittersRCV000693921RCV003158034
NM_007294.4(BRCA1):c.3772G>A (p.Glu1258Lys) SNV
Germline		 Chr17:43091759 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397509105

3 SubmittersRCV000694081RCV002343480
NM_007294.4(BRCA1):c.3036A>C (p.Arg1012Ser) SNV
Germline		 Chr17:43092495 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567793150

3 SubmittersRCV000690841RCV001177425
NM_007294.4(BRCA1):c.2583C>G (p.Phe861Leu) SNV
Germline		 Chr17:43092948 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555589334

2 SubmittersRCV000689771RCV003157831
NM_007294.4(BRCA1):c.2344A>G (p.Ser782Gly) SNV
Germline		 Chr17:43093187 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1433746078

3 SubmittersRCV000691586RCV001177426
NM_007294.4(BRCA1):c.2297G>A (p.Ser766Asn) SNV
Germline		 Chr17:43093234 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567796224

2 SubmittersRCV000701552RCV003158065
NM_007294.4(BRCA1):c.1907G>C (p.Cys636Ser) SNV
Germline		 Chr17:43093624 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122649

3 SubmittersRCV000702848RCV002406632
NM_007294.4(BRCA1):c.1773A>G (p.Ile591Met) SNV
Germline		 Chr17:43093758 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1555591259

3 SubmittersRCV000696414RCV003158043RCV003478426
NM_007294.4(BRCA1):c.1484A>C (p.Glu495Ala) SNV
Germline		 Chr17:43094047 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567799498

4 SubmittersRCV000698146RCV003316799RCV003158050
NM_007294.4(BRCA1):c.1061A>G (p.Asn354Ser) SNV
Germline		 Chr17:43094470 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555592577

2 SubmittersRCV000691148RCV003158022
NM_007294.4(BRCA1):c.1022A>C (p.Asp341Ala) SNV
Germline		 Chr17:43094509 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567801162

3 SubmittersRCV000696720RCV001017033
NM_007294.4(BRCA1):c.953A>G (p.His318Arg) SNV
Germline		 Chr17:43094578 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 rs_776278453

7 SubmittersRCV000689929RCV000775182RCV001565727RCV001771944RCV003493704
NM_007294.4(BRCA1):c.878C>G (p.Thr293Ser) SNV
Germline		 Chr17:43094653 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_747172803

5 SubmittersRCV000691325RCV001018322RCV001766481
NM_007294.4(BRCA1):c.520C>T (p.Gln174Ter) SNV
Germline		 Chr17:43099802 Pathogenic Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Single Submitter
 rs_1567806048

2 SubmittersRCV000698243RCV002250684
NM_007294.4(BRCA1):c.4485-2A>C SNV
Germline		 Chr17:43074523 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80358054

3 SubmittersRCV000688168RCV001191823RCV001283905
NM_007294.4(BRCA1):c.3875C>G (p.Ser1292Cys) SNV
Germline		 Chr17:43091656 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876658340

3 SubmittersRCV000699231RCV001021335
NM_007294.4(BRCA1):c.3812G>C (p.Ser1271Thr) SNV
Germline		 Chr17:43091719 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567789989

2 SubmittersRCV000691690RCV003158025
NM_007294.4(BRCA1):c.3769G>A (p.Glu1257Lys) SNV
Germline		 Chr17:43091762 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567790183

2 SubmittersRCV000703675RCV003158071
NM_007294.4(BRCA1):c.3557T>A (p.Leu1186His) SNV
Germline		 Chr17:43091974 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567791164

3 SubmittersRCV000693761RCV002458243
NM_007294.4(BRCA1):c.3460T>A (p.Leu1154Ile) SNV
Germline		 Chr17:43092071 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567791553

2 SubmittersRCV000706928RCV003158084
NM_007294.4(BRCA1):c.3424G>T (p.Ala1142Ser) SNV
Germline		 Chr17:43092107 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357101

2 SubmittersRCV000692533RCV003158028
NM_007294.4(BRCA1):c.3244G>A (p.Ala1082Thr) SNV
Germline		 Chr17:43092287 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_779459487

2 SubmittersRCV000685669RCV003157815
NM_007294.4(BRCA1):c.2906A>G (p.Asn969Ser) SNV
Germline		 Chr17:43092625 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567793695

3 SubmittersRCV000687029RCV002440428
NM_007294.4(BRCA1):c.2171C>T (p.Pro724Leu) SNV
Germline		 Chr17:43093360 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_751104940

4 SubmittersRCV000705073RCV001183206
NM_007294.4(BRCA1):c.2126T>G (p.Phe709Cys) SNV
Germline		 Chr17:43093405 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567796937

2 SubmittersRCV000690178RCV003157834
NM_007294.4(BRCA1):c.1960A>C (p.Lys654Gln) SNV
Germline		 Chr17:43093571 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357355

3 SubmittersRCV000693765RCV001013854
NM_007294.4(BRCA1):c.1666A>G (p.Lys556Glu) SNV
Germline		 Chr17:43093865 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587783041

4 SubmittersRCV000701801RCV001290659RCV002397455
NM_007294.4(BRCA1):c.1291T>A (p.Leu431Ile) SNV
Germline		 Chr17:43094240 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_960381964

6 SubmittersRCV000700651RCV001532307RCV003158059RCV003321721
NM_007294.4(BRCA1):c.1258G>A (p.Asp420Asn) SNV
Germline		 Chr17:43094273 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_80357488

3 SubmittersRCV000694638RCV003158036RCV003999621
NM_007294.4(BRCA1):c.1031C>A (p.Ala344Asp) SNV
Germline		 Chr17:43094500 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876658636

2 SubmittersRCV000685674RCV003157816
NM_007294.4(BRCA1):c.982T>G (p.Cys328Gly) SNV
Germline		 Chr17:43094549 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_748156170

3 SubmittersRCV000686850RCV000758855RCV003157821
NM_000546.6(TP53):c.116C>T (p.Ala39Val) SNV
Germline		 Chr17:7676253 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1353016807

4 SubmittersRCV000690309RCV002225719RCV002289967RCV002289968
NM_000059.4(BRCA2):c.476-1G>C SNV
Germline		 Chr13:32326241 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_397507340

1 SubmittersRCV000697675
NM_000059.4(BRCA2):c.808T>G (p.Ser270Ala) SNV
Germline		 Chr13:32332286 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1566222098

3 SubmittersRCV000699149RCV003158055RCV003994086
NM_000059.4(BRCA2):c.871C>G (p.Leu291Val) SNV
Germline		 Chr13:32332349 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566222250

2 SubmittersRCV000700985RCV003158061
NM_000059.4(BRCA2):c.1168T>C (p.Ser390Pro) SNV
Germline		 Chr13:32332646 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566222903

2 SubmittersRCV000697319RCV003158047
NM_000059.4(BRCA2):c.1366G>A (p.Glu456Lys) SNV
Germline		 Chr13:32332844 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_778142232

4 SubmittersRCV000704282RCV000773074
NM_000059.4(BRCA2):c.2116G>A (p.Ala706Thr) SNV
Germline		 Chr13:32336471 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1453451895

4 SubmittersRCV000695922RCV002509517RCV002422526
NM_000059.4(BRCA2):c.2498T>C (p.Leu833Pro) SNV
Germline		 Chr13:32336853 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566226846

2 SubmittersRCV000693433RCV003158031
NM_000059.4(BRCA2):c.3262C>G (p.Pro1088Ala) SNV
Germline		 Chr13:32337617 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358572

2 SubmittersRCV000696144RCV003158041
NM_000059.4(BRCA2):c.3506A>G (p.Asn1169Ser) SNV
Germline		 Chr13:32337861 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1194031580

4 SubmittersRCV000705467RCV001805823RCV002458312
NM_000059.4(BRCA2):c.3637G>T (p.Glu1213Ter) SNV
Germline		 Chr13:32337992 Pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566228876

2 SubmittersRCV000691926RCV001283921
NM_000059.4(BRCA2):c.3691A>G (p.Thr1231Ala) SNV
Germline		 Chr13:32338046 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283363

2 SubmittersRCV000685084RCV003157813
NM_000059.4(BRCA2):c.3926T>G (p.Ile1309Ser) SNV
Germline		 Chr13:32338281 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566229403

2 SubmittersRCV000686771RCV003157819
NM_000059.4(BRCA2):c.4043G>A (p.Cys1348Tyr) SNV
Germline		 Chr13:32338398 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1307056903

4 SubmittersRCV000692198RCV001177427
NM_000059.4(BRCA2):c.4334A>C (p.Lys1445Thr) SNV
Germline		 Chr13:32338689 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566230096

3 SubmittersRCV000688055RCV002331336
NM_000059.4(BRCA2):c.4452C>A (p.Asp1484Glu) SNV
Germline		 Chr13:32338807 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566230343

2 SubmittersRCV000696101RCV003158040
NM_000059.4(BRCA2):c.4638T>A (p.Phe1546Leu) SNV
Germline		 Chr13:32338993 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_777505242

3 SubmittersRCV000686790RCV003157820RCV004004253
NM_000059.4(BRCA2):c.4804A>G (p.Lys1602Glu) SNV
Germline		 Chr13:32339159 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566231167

2 SubmittersRCV000701471RCV003158064
NM_000059.4(BRCA2):c.4937A>G (p.Glu1646Gly) SNV
Germline		 Chr13:32339292 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_762394148

5 SubmittersRCV000698099RCV001023296RCV001766515
NM_000059.4(BRCA2):c.4982A>T (p.Tyr1661Phe) SNV
Germline		 Chr13:32339337 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_771921490

4 SubmittersRCV000705607RCV003158076RCV003999767RCV002477629
NM_000059.4(BRCA2):c.5573C>A (p.Thr1858Lys) SNV
Germline		 Chr13:32339928 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566232699

2 SubmittersRCV000706735RCV003158083
NM_000059.4(BRCA2):c.5651T>G (p.Ile1884Ser) SNV
Germline		 Chr13:32340006 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358788

2 SubmittersRCV000699745RCV003158056
NM_000059.4(BRCA2):c.5695G>T (p.Asp1899Tyr) SNV
Germline		 Chr13:32340050 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_371189402

2 SubmittersRCV000694572RCV003158035
NM_000059.4(BRCA2):c.5930T>A (p.Ile1977Asn) SNV
Germline		 Chr13:32340285 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566233570

2 SubmittersRCV000687425RCV003157825
NM_000059.4(BRCA2):c.6143A>G (p.Asn2048Ser) SNV
Germline		 Chr13:32340498 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358853

2 SubmittersRCV000694937RCV003158037
NM_000059.4(BRCA2):c.6230A>C (p.Lys2077Thr) SNV
Germline		 Chr13:32340585 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_955263930

3 SubmittersRCV000707293RCV002360837
NM_000059.4(BRCA2):c.8632+13A>G SNV
Germline		 Chr13:32371113 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1566249453

3 SubmittersRCV000697372RCV000773820RCV001260397
NM_007294.4(BRCA1):c.5518G>A (p.Asp1840Asn) SNV
Germline		 Chr17:43045752 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567756588

4 SubmittersRCV000704104RCV001076346RCV003126915RCV004026653
NM_007294.4(BRCA1):c.4986+13A>G SNV
Germline		 Chr17:43070915 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_5031012

2 SubmittersRCV000701323RCV000773121
NM_007294.4(BRCA1):c.4954A>T (p.Met1652Leu) SNV
Germline		 Chr17:43070960 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1348949389

3 SubmittersRCV001023316RCV000695271RCV001077350
NM_007294.4(BRCA1):c.3565A>T (p.Ser1189Cys) SNV
Germline		 Chr17:43091966 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567791142

3 SubmittersRCV000706453RCV002334389
NM_007294.4(BRCA1):c.3526G>A (p.Val1176Ile) SNV
Germline		 Chr17:43092005 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_777796838

5 SubmittersRCV000685249RCV001540322RCV003157814RCV003229598
NM_007294.4(BRCA1):c.3506A>G (p.Asp1169Gly) SNV
Germline		 Chr17:43092025 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1323940169

2 SubmittersRCV000692819RCV003158029
NM_007294.4(BRCA1):c.2917C>A (p.Leu973Ile) SNV
Germline		 Chr17:43092614 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_80357080

5 SubmittersRCV000700169RCV001525330RCV003999701
NM_007294.4(BRCA1):c.2885A>G (p.Glu962Gly) SNV
Germline		 Chr17:43092646 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Burkitt lymphoma
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_780367532

8 SubmittersRCV000695819RCV000985394RCV002249412RCV002285401RCV003158039RCV003999645
NM_007294.4(BRCA1):c.2654T>A (p.Phe885Tyr) SNV
Germline		 Chr17:43092877 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567794788

2 SubmittersRCV000706428RCV003158080
NM_007294.4(BRCA1):c.2608G>A (p.Ala870Thr) SNV
Germline		 Chr17:43092923 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_753256448

3 SubmittersRCV000687202RCV002440429
NM_007294.4(BRCA1):c.2402G>A (p.Cys801Tyr) SNV
Germline		 Chr17:43093129 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1567795821

5 SubmittersRCV000705618RCV001184336RCV003999768
NM_007294.4(BRCA1):c.2393C>G (p.Pro798Arg) SNV
Germline		 Chr17:43093138 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660005

3 SubmittersRCV000691468RCV002424624
NM_007294.4(BRCA1):c.2314G>A (p.Val772Ile) SNV
Germline		 Chr17:43093217 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567796129

2 SubmittersRCV000698553RCV003158051
NM_007294.4(BRCA1):c.1979T>C (p.Val660Ala) SNV
Germline		 Chr17:43093552 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567797385

3 SubmittersRCV000695052RCV001013939
NM_007294.4(BRCA1):c.1684A>G (p.Ile562Val) SNV
Germline		 Chr17:43093847 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567798727

4 SubmittersRCV000704532RCV000775711
NM_007294.4(BRCA1):c.1553T>C (p.Ile518Thr) SNV
Germline		 Chr17:43093978 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567799193

3 SubmittersRCV000706575RCV003158081
NM_007294.4(BRCA1):c.1450G>A (p.Gly484Arg) SNV
Germline		 Chr17:43094081 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_80357304

6 SubmittersRCV000688568RCV001177424RCV003317341RCV004004284
NM_007294.4(BRCA1):c.1136T>C (p.Ile379Thr) SNV
Germline		 Chr17:43094395 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567800757

3 SubmittersRCV000703801RCV002325427
NM_007294.4(BRCA1):c.1036C>G (p.Pro346Ala) SNV
Germline		 Chr17:43094495 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_80357015

7 SubmittersRCV000695469RCV000759484RCV001017092RCV001797784
NM_007294.4(BRCA1):c.869T>C (p.Leu290Ser) SNV
Germline		 Chr17:43094662 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_730881468

2 SubmittersRCV000693440RCV003158032
NM_007294.4(BRCA1):c.523A>G (p.Lys175Glu) SNV
Germline		 Chr17:43099799 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 rs_1567806027

5 SubmittersRCV000697900RCV001192477RCV002334336RCV003607342
NM_000059.4(BRCA2):c.3547G>C (p.Glu1183Gln) SNV
Germline		 Chr13:32337902 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566228768

3 SubmittersRCV000708681RCV003117505
NM_000059.4(BRCA2):c.3608G>A (p.Ser1203Asn) SNV
Germline		 Chr13:32337963 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_745817393

4 SubmittersRCV000708682RCV003117506
NM_133510.4(RAD51B):c.25G>A (p.Val9Met) SNV
Germline		 Chr14:67823568 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_34583846

2 SubmittersRCV000708742RCV002225720
NM_002907.4(RECQL):c.1382A>G (p.His461Arg) SNV
Germline		 Chr12:21473616 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_201573409

6 SubmittersRCV000709205RCV001303915RCV001030655RCV004026767
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile) SNV
Germline		 Chr12:21486579 Conflicting classifications of pathogenicity Seizure
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Hereditary cancer
RECQL-related disorder		 Criteria Provided
Conflicting Classifications
 rs_150306543

8 SubmittersRCV001262455RCV001374530RCV001494287RCV002477639RCV003492146RCV003945728
NM_000059.4(BRCA2):c.967G>A (p.Val323Ile) SNV
Germline		 Chr13:32332445 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566222487

6 SubmittersRCV000709296RCV000759693RCV000988997RCV001779067RCV002386279
NM_000059.4(BRCA2):c.1471A>G (p.Thr491Ala) SNV
Germline		 Chr13:32332949 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566223650

4 SubmittersRCV000709298RCV000989000RCV001011762
NM_000059.4(BRCA2):c.2576T>C (p.Val859Ala) SNV
Germline		 Chr13:32336931 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566226964

4 SubmittersRCV000989016RCV000709304RCV003158089
NM_000059.4(BRCA2):c.2998A>C (p.Ile1000Leu) SNV
Germline		 Chr13:32337353 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282999

5 SubmittersRCV000709306RCV000779970RCV000989020RCV002440559
NM_000059.4(BRCA2):c.6386A>G (p.Glu2129Gly) SNV
Germline		 Chr13:32340741 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566234469

4 SubmittersRCV000709326RCV000758924RCV000989052RCV003158090
NM_000059.4(BRCA2):c.8488-2A>C SNV
Germline		 Chr13:32370954 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_773272765

2 SubmittersRCV000709335RCV000989071
NM_000059.4(BRCA2):c.8754+9G>A SNV
Germline		 Chr13:32376800 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_749435255

3 SubmittersRCV000989072RCV000709336
NM_002878.4(RAD51D):c.192C>T (p.Phe64=) SNV
Germline		 Chr17:35118572 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4		 Criteria Provided
Conflicting Classifications
 rs_1567735397

3 SubmittersRCV000709450RCV002406653RCV002067001
NM_002878.4(RAD51D):c.86T>C (p.Val29Ala) SNV
Germline		 Chr17:35119169 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567735899

4 SubmittersRCV000709455RCV000792440RCV003165938
NM_007294.4(BRCA1):c.3682C>T (p.His1228Tyr) SNV
Germline		 Chr17:43091849 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567790599

4 SubmittersRCV000709474RCV002458332
NM_007294.4(BRCA1):c.3047A>G (p.Asn1016Ser) SNV
Germline		 Chr17:43092484 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567793123

6 SubmittersRCV000709478RCV000989894RCV001188466
NM_007294.4(BRCA1):c.2209A>G (p.Thr737Ala) SNV
Germline		 Chr17:43093322 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567796585

4 SubmittersRCV000709481RCV000989897RCV001182697
NM_007294.4(BRCA1):c.1997T>C (p.Leu666Pro) SNV
Germline		 Chr17:43093534 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567797346

3 SubmittersRCV000709483RCV000989899RCV003158091
NM_007294.4(BRCA1):c.5073A>T (p.Thr1691=) SNV
Germline		 Chr17:43067609 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 rs_80356853

3 SubmittersRCV000735896RCV001078000
NM_000059.4(BRCA2):c.6443C>T (p.Ser2148Phe) SNV
Germline		 Chr13:32340798 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358880

4 SubmittersRCV000755871RCV001215857RCV003158094
NM_007294.4(BRCA1):c.2283A>C (p.Glu761Asp) SNV
Germline		 Chr17:43093248 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567796302

3 SubmittersRCV000757933RCV001187961
NM_000059.4(BRCA2):c.249G>C (p.Glu83Asp) SNV
Germline		 Chr13:32319258 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1442324599

4 SubmittersRCV000758876RCV001193141RCV001855910RCV004027165
NM_000059.4(BRCA2):c.931T>G (p.Cys311Gly) SNV
Germline		 Chr13:32332409 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_61754140

4 SubmittersRCV000758973RCV001186867RCV001855911
NM_000059.4(BRCA2):c.1053A>G (p.Lys351=) SNV
Germline		 Chr13:32332531 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566222664

3 SubmittersRCV000758857RCV001492812RCV003166011
NM_000059.4(BRCA2):c.1311A>G (p.Lys437=) SNV
Germline		 Chr13:32332789 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566223261

2 SubmittersRCV000758862RCV001456445
NM_000059.4(BRCA2):c.1447G>T (p.Ala483Ser) SNV
Germline		 Chr13:32332925 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_80358432

6 SubmittersRCV000759575RCV000772721RCV003645088RCV003999904
NM_000059.4(BRCA2):c.2375A>G (p.Tyr792Cys) SNV
Germline		 Chr13:32336730 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566226599

3 SubmittersRCV000758873RCV001301542RCV003158097
NM_000059.4(BRCA2):c.2603C>T (p.Thr868Ile) SNV
Germline		 Chr13:32336958 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566227012

4 SubmittersRCV000759590RCV001016079RCV003768282
NM_000059.4(BRCA2):c.3617G>A (p.Gly1206Asp) SNV
Germline		 Chr13:32337972 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1410689747

4 SubmittersRCV000759600RCV003158105RCV003645089
NM_000059.4(BRCA2):c.3639A>T (p.Glu1213Asp) SNV
Germline		 Chr13:32337994 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1303026901

4 SubmittersRCV000759601RCV001047451RCV002458366
NM_000059.4(BRCA2):c.4062G>T (p.Thr1354=) SNV
Germline		 Chr13:32338417 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_768735660

4 SubmittersRCV000759611RCV002061030RCV002325460RCV002509528
NM_000059.4(BRCA2):c.4538A>T (p.Asp1513Val) SNV
Germline		 Chr13:32338893 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566230577

3 SubmittersRCV000759617RCV001302164RCV003158106
NM_000059.4(BRCA2):c.4568G>A (p.Gly1523Asp) SNV
Germline		 Chr13:32338923 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_879255451

5 SubmittersRCV000759618RCV001312310RCV003158107
NM_000059.4(BRCA2):c.4642G>A (p.Glu1548Lys) SNV
Germline		 Chr13:32338997 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566230862

4 SubmittersRCV000759619RCV000791852RCV003158108
NM_000059.4(BRCA2):c.5141A>T (p.Tyr1714Phe) SNV
Germline		 Chr13:32339496 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566231796

4 SubmittersRCV000758906RCV003158099RCV003768279
NM_000059.4(BRCA2):c.5384A>G (p.Lys1795Arg) SNV
Germline		 Chr13:32339739 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566232357

3 SubmittersRCV000759623RCV002298757RCV003158109
NM_000059.4(BRCA2):c.5667T>C (p.Ile1889=) SNV
Germline		 Chr13:32340022 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1053022395

4 SubmittersRCV000758911RCV001176103RCV001462564
NM_000059.4(BRCA2):c.5905G>A (p.Val1969Ile) SNV
Germline		 Chr13:32340260 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566233487

4 SubmittersRCV000759632RCV002352269RCV003645090
NM_000059.4(BRCA2):c.6141T>G (p.Tyr2047Ter) SNV
Germline		 Chr13:32340496 Pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1466688245

3 SubmittersRCV000758919RCV000781134RCV001024938
NM_000059.4(BRCA2):c.6148G>T (p.Val2050Leu) SNV
Germline		 Chr13:32340503 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358854

3 SubmittersRCV000758920RCV001319995RCV003158100
NM_000059.4(BRCA2):c.6253T>C (p.Leu2085=) SNV
Germline		 Chr13:32340608 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_761996223

2 SubmittersRCV000759637RCV002067197
NM_000059.4(BRCA2):c.6410A>G (p.Asn2137Ser) SNV
Germline		 Chr13:32340765 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566234528

4 SubmittersRCV000758927RCV001025240RCV001230790
NM_000059.4(BRCA2):c.6448A>G (p.Lys2150Glu) SNV
Germline		 Chr13:32340803 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1403648108

5 SubmittersRCV000758930RCV001184370RCV001370990
NM_000059.4(BRCA2):c.6817A>G (p.Arg2273Gly) SNV
Germline		 Chr13:32341172 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566235443

4 SubmittersRCV000758937RCV000799494RCV002360871
NM_000059.4(BRCA2):c.6839T>C (p.Val2280Ala) SNV
Germline		 Chr13:32341194 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566235479

4 SubmittersRCV000758940RCV000772891RCV003483716
NM_000059.4(BRCA2):c.7390C>G (p.Gln2464Glu) SNV
Germline		 Chr13:32355243 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_572945276

4 SubmittersRCV000758946RCV000779962RCV001055218RCV004027166
NM_000059.4(BRCA2):c.7422A>G (p.Glu2474=) SNV
Germline		 Chr13:32355275 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566241334

3 SubmittersRCV000758947RCV001026420RCV001502819
NM_000059.4(BRCA2):c.7494A>G (p.Lys2498=) SNV
Germline		 Chr13:32356486 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566241948

3 SubmittersRCV000759656RCV001494034RCV002388382
NM_000059.4(BRCA2):c.8469A>G (p.Gln2823=) SNV
Germline		 Chr13:32370539 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566248932

3 SubmittersRCV000758962RCV001017847RCV001059501
NM_000059.4(BRCA2):c.8562T>G (p.Tyr2854Ter) SNV
Germline		 Chr13:32371030 Pathogenic/Likely pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_786201333

2 SubmittersRCV000759674RCV001051589
NM_007294.4(BRCA1):c.4698T>G (p.Ser1566=) SNV
Germline		 Chr17:43071216 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1246456207

5 SubmittersRCV000759544RCV001462491RCV002334423RCV003999903
NM_007294.4(BRCA1):c.3963C>G (p.Ser1321=) SNV
Germline		 Chr17:43091568 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567789440

3 SubmittersRCV000759531RCV001399337RCV002370016
NM_007294.4(BRCA1):c.2833A>G (p.Ser945Gly) SNV
Germline		 Chr17:43092698 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1567794085

6 SubmittersRCV000759510RCV001183591RCV001869033RCV003229602
NM_007294.4(BRCA1):c.2538A>C (p.Glu846Asp) SNV
Germline		 Chr17:43092993 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567795266

4 SubmittersRCV000758795RCV001212955RCV002458363
NM_007294.4(BRCA1):c.2058A>T (p.Glu686Asp) SNV
Germline		 Chr17:43093473 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1262148583

5 SubmittersRCV000758791RCV003158096RCV003645086RCV003999897
NM_007294.4(BRCA1):c.1864G>A (p.Ala622Thr) SNV
Germline		 Chr17:43093667 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567797954

4 SubmittersRCV000759500RCV001855918RCV003158103
NM_007294.4(BRCA1):c.1813G>C (p.Ala605Pro) SNV
Germline		 Chr17:43093718 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587781613

4 SubmittersRCV000759498RCV001322526RCV001824875RCV003158102
NM_007294.4(BRCA1):c.1766G>A (p.Ser589Asn) SNV
Germline		 Chr17:43093765 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1567798335

4 SubmittersRCV000759497RCV001307422RCV003158101RCV003999902
NM_007294.4(BRCA1):c.1683T>C (p.Ser561=) SNV
Germline		 Chr17:43093848 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567798735

2 SubmittersRCV000758789RCV003645085
NM_007294.4(BRCA1):c.1233T>C (p.Asp411=) SNV
Germline		 Chr17:43094298 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357024

3 SubmittersRCV000759493RCV001010470RCV001442456
NM_000059.4(BRCA2):c.1910-1G>T SNV
Germline		 Chr13:32336264 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566225769

5 SubmittersRCV000759582RCV000772386RCV001378610RCV003999905
NM_000059.4(BRCA2):c.7806-1G>A SNV
Germline		 Chr13:32362522 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_81002860

3 SubmittersRCV000758953RCV001026831RCV003530094
NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter) SNV
Germline		 Chr13:32339808 Pathogenic Fanconi anemia complementation group D1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566232471

4 SubmittersRCV000761285RCV001024132RCV003478452RCV003768291
NM_000059.4(BRCA2):c.5860A>G (p.Thr1954Ala) SNV
Germline		 Chr13:32340215 Conflicting classifications of pathogenicity Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 rs_1566233345

7 SubmittersRCV000770728RCV000812307RCV001024614RCV003478453RCV003607344RCV003153829
NM_002485.5(NBN):c.297T>C (p.Phe99=) SNV
Germline		 Chr8:89981398 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1563580668

4 SubmittersRCV000772238RCV001413593RCV002225725
NM_000059.4(BRCA2):c.797T>G (p.Phe266Cys) SNV
Germline		 Chr13:32332275 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1566222067

5 SubmittersRCV000773473RCV000791518RCV004000015
NM_000059.4(BRCA2):c.822T>A (p.Phe274Leu) SNV
Germline		 Chr13:32332300 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1566222119

5 SubmittersRCV000775822RCV001856122RCV003159161
NM_000059.4(BRCA2):c.1004A>G (p.Glu335Gly) SNV
Germline		 Chr13:32332482 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566222581

4 SubmittersRCV000773844RCV001055035
NM_000059.4(BRCA2):c.1051A>G (p.Lys351Glu) SNV
Germline		 Chr13:32332529 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1003779807

4 SubmittersRCV000775857RCV002304219
NM_000059.4(BRCA2):c.1058C>T (p.Ser353Leu) SNV
Germline		 Chr13:32332536 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_769368098

5 SubmittersRCV000771533RCV001064596RCV003323718
NM_000059.4(BRCA2):c.1097T>C (p.Leu366Ser) SNV
Germline		 Chr13:32332575 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_886040345

7 SubmittersRCV000775963RCV000824337RCV002265880RCV002477777RCV004001466
NM_000059.4(BRCA2):c.1159G>A (p.Val387Ile) SNV
Germline		 Chr13:32332637 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_869320791

4 SubmittersRCV000777328RCV001869120
NM_000059.4(BRCA2):c.1222A>G (p.Met408Val) SNV
Germline		 Chr13:32332700 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566223036

4 SubmittersRCV000773547RCV001246888
NM_000059.4(BRCA2):c.1271C>T (p.Ser424Leu) SNV
Germline		 Chr13:32332749 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566223138

3 SubmittersRCV000774250RCV003768369
NM_000059.4(BRCA2):c.1322C>A (p.Thr441Asn) SNV
Germline		 Chr13:32332800 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1064793062

4 SubmittersRCV000773894RCV003493725RCV003645103
NM_000059.4(BRCA2):c.1357C>G (p.Pro453Ala) SNV
Germline		 Chr13:32332835 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566223373

3 SubmittersRCV000774061RCV001299678
NM_000059.4(BRCA2):c.1388C>T (p.Thr463Ile) SNV
Germline		 Chr13:32332866 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_151011453

6 SubmittersRCV000777160RCV003493728RCV003530107RCV004001491
NM_000059.4(BRCA2):c.1545T>G (p.Thr515=) SNV
Germline		 Chr13:32333023 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_786202158

7 SubmittersRCV000775000RCV001000339RCV000831596RCV001088922RCV004001425
NM_000059.4(BRCA2):c.1570A>G (p.Met524Val) SNV
Germline		 Chr13:32333048 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566223875

3 SubmittersRCV000772465RCV003645096
NM_000059.4(BRCA2):c.1655C>A (p.Ser552Tyr) SNV
Germline		 Chr13:32333133 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1566224045

5 SubmittersRCV000777355RCV001211446RCV001290668
NM_000059.4(BRCA2):c.1661G>A (p.Cys554Tyr) SNV
Germline		 Chr13:32333139 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_748215651

7 SubmittersRCV000772730RCV000810961RCV001284413
NM_000059.4(BRCA2):c.1718C>G (p.Ala573Gly) SNV
Germline		 Chr13:32333196 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1262187089

5 SubmittersRCV000774021RCV000779995RCV000791628
NM_000059.4(BRCA2):c.1819A>G (p.Lys607Glu) SNV
Germline		 Chr13:32333297 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358471

3 SubmittersRCV000775835RCV002536702
NM_000059.4(BRCA2):c.1843A>T (p.Asn615Tyr) SNV
Germline		 Chr13:32333321 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_777641881

3 SubmittersRCV000777064RCV001065241
NM_000059.4(BRCA2):c.1903G>C (p.Asp635His) SNV
Germline		 Chr13:32333381 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1566224604

5 SubmittersRCV000776413RCV001856127RCV004001469
NM_000059.4(BRCA2):c.2016A>C (p.Arg672Ser) SNV
Germline		 Chr13:32336371 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566225944

3 SubmittersRCV000772166RCV003645094
NM_000059.4(BRCA2):c.2030C>G (p.Ser677Cys) SNV
Germline		 Chr13:32336385 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1555282410

4 SubmittersRCV000771649RCV001856000RCV002307610
NM_000059.4(BRCA2):c.2039C>T (p.Thr680Ile) SNV
Germline		 Chr13:32336394 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566226005

4 SubmittersRCV000772333RCV001201832
NM_000059.4(BRCA2):c.2048C>T (p.Ser683Phe) SNV
Germline		 Chr13:32336403 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566226030

3 SubmittersRCV000773916RCV003530101
NM_000059.4(BRCA2):c.2182G>T (p.Asp728Tyr) SNV
Germline		 Chr13:32336537 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566226248

3 SubmittersRCV000773466RCV001856050
NM_000059.4(BRCA2):c.2221G>C (p.Val741Leu) SNV
Germline		 Chr13:32336576 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358493

3 SubmittersRCV000773603RCV001035545
NM_000059.4(BRCA2):c.2270A>G (p.Lys757Arg) SNV
Germline		 Chr13:32336625 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_763035556

7 SubmittersRCV000772735RCV000942367RCV001487620RCV003999980
NM_000059.4(BRCA2):c.2581C>A (p.Gln861Lys) SNV
Germline		 Chr13:32336936 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_773356478

3 SubmittersRCV000772736RCV002222190
NM_000059.4(BRCA2):c.2602A>C (p.Thr868Pro) SNV
Germline		 Chr13:32336957 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1368861313

4 SubmittersRCV000776901RCV000801001
NM_000059.4(BRCA2):c.2725C>T (p.Leu909Phe) SNV
Germline		 Chr13:32337080 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660858

4 SubmittersRCV000777493RCV000819764
NM_000059.4(BRCA2):c.2838T>A (p.Asp946Glu) SNV
Germline		 Chr13:32337193 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_149753706

4 SubmittersRCV000777316RCV002535604RCV004001494
NM_000059.4(BRCA2):c.3068A>C (p.Asn1023Thr) SNV
Germline		 Chr13:32337423 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_776196396

5 SubmittersRCV000772738RCV002250693RCV002536637
NM_000059.4(BRCA2):c.3169A>C (p.Lys1057Gln) SNV
Germline		 Chr13:32337524 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566227924

4 SubmittersRCV000773389RCV003645100
NM_000059.4(BRCA2):c.3325G>A (p.Ala1109Thr) SNV
Germline		 Chr13:32337680 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_752886421

5 SubmittersRCV000773764RCV002534095RCV003238810
NM_000059.4(BRCA2):c.3346A>C (p.Thr1116Pro) SNV
Germline		 Chr13:32337701 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_786204212

4 SubmittersRCV000773034RCV001850970
NM_000059.4(BRCA2):c.3379T>C (p.Phe1127Leu) SNV
Germline		 Chr13:32337734 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566228395

4 SubmittersRCV000777126RCV001367116
NM_000059.4(BRCA2):c.3463A>G (p.Thr1155Ala) SNV
Germline		 Chr13:32337818 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1555283257

6 SubmittersRCV000776847RCV000803792RCV000985501RCV003453609
NM_000059.4(BRCA2):c.3598T>G (p.Cys1200Gly) SNV
Germline		 Chr13:32337953 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358607

3 SubmittersRCV000774657RCV001873148
NM_000059.4(BRCA2):c.3638A>G (p.Glu1213Gly) SNV
Germline		 Chr13:32337993 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566228880

3 SubmittersRCV000773512RCV001856052
NM_000059.4(BRCA2):c.3643G>A (p.Gly1215Arg) SNV
Germline		 Chr13:32337998 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1366773950

4 SubmittersRCV000772219RCV001232512
NM_000059.4(BRCA2):c.3649A>T (p.Arg1217Trp) SNV
Germline		 Chr13:32338004 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1410046826

4 SubmittersRCV000772440RCV001207043
NM_000059.4(BRCA2):c.3679C>G (p.Leu1227Val) SNV
Germline		 Chr13:32338034 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1566228950

6 SubmittersRCV000771765RCV001775988RCV001856003RCV003999962
NM_000059.4(BRCA2):c.3854A>G (p.Glu1285Gly) SNV
Germline		 Chr13:32338209 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_747103920

4 SubmittersRCV000771443RCV000797506RCV003483717
NM_000059.4(BRCA2):c.3902C>T (p.Thr1301Ile) SNV
Germline		 Chr13:32338257 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1455648880

5 SubmittersRCV000773740RCV001328440RCV001355499RCV001873133
NM_000059.4(BRCA2):c.3904A>T (p.Thr1302Ser) SNV
Germline		 Chr13:32338259 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_543339423

4 SubmittersRCV000772744RCV002061072
NM_000059.4(BRCA2):c.3979G>T (p.Ala1327Ser) SNV
Germline		 Chr13:32338334 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566229476

4 SubmittersRCV000775013RCV002534170
NM_000059.4(BRCA2):c.3982A>T (p.Ser1328Cys) SNV
Germline		 Chr13:32338337 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566229480

4 SubmittersRCV000772926RCV001856034
NM_000059.4(BRCA2):c.4306A>G (p.Ile1436Val) SNV
Germline		 Chr13:32338661 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_778282885

5 SubmittersRCV000772747RCV000989028RCV001217070
NM_000059.4(BRCA2):c.4363G>T (p.Glu1455Ter) SNV
Germline		 Chr13:32338718 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566230144

5 SubmittersRCV000776401RCV001235864RCV002477778RCV004569466
NM_000059.4(BRCA2):c.4514C>T (p.Thr1505Ile) SNV
Germline		 Chr13:32338869 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566230463

4 SubmittersRCV000775846RCV003530104
NM_000059.4(BRCA2):c.4690G>T (p.Ala1564Ser) SNV
Germline		 Chr13:32339045 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566230953

3 SubmittersRCV000771673RCV000796263
NM_000059.4(BRCA2):c.4717T>C (p.Cys1573Arg) SNV
Germline		 Chr13:32339072 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_56054233

3 SubmittersRCV000772751RCV003645097
NM_000059.4(BRCA2):c.4748T>C (p.Ile1583Thr) SNV
Germline		 Chr13:32339103 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566231072

4 SubmittersRCV000772262RCV001225173
NM_000059.4(BRCA2):c.4868A>C (p.Gln1623Pro) SNV
Germline		 Chr13:32339223 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_75381894

4 SubmittersRCV000776972RCV001234641
NM_000059.4(BRCA2):c.4912A>G (p.Lys1638Glu) SNV
Germline		 Chr13:32339267 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_886040553

3 SubmittersRCV000774220RCV003530102
NM_000059.4(BRCA2):c.4919A>C (p.His1640Pro) SNV
Germline		 Chr13:32339274 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_373483754

4 SubmittersRCV000773732RCV000808987
NM_000059.4(BRCA2):c.4943C>T (p.Ala1648Val) SNV
Germline		 Chr13:32339298 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1449458592

4 SubmittersRCV000773190RCV002534052
NM_000059.4(BRCA2):c.5221A>G (p.Ser1741Gly) SNV
Germline		 Chr13:32339576 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566232001

4 SubmittersRCV000776931RCV003645110
NM_000059.4(BRCA2):c.5293A>G (p.Lys1765Glu) SNV
Germline		 Chr13:32339648 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_879255458

3 SubmittersRCV000772792RCV001348718
NM_000059.4(BRCA2):c.5317G>A (p.Glu1773Lys) SNV
Germline		 Chr13:32339672 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1566232201

4 SubmittersRCV000777419RCV001042289RCV001772036
NM_000059.4(BRCA2):c.5317G>C (p.Glu1773Gln) SNV
Germline		 Chr13:32339672 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1566232201

5 SubmittersRCV000772421RCV003645095RCV003999967
NM_000059.4(BRCA2):c.5431G>A (p.Glu1811Lys) SNV
Germline		 Chr13:32339786 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566232430

3 SubmittersRCV000777130RCV003530106
NM_000059.4(BRCA2):c.5450C>T (p.Ser1817Phe) SNV
Germline		 Chr13:32339805 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_759741090

3 SubmittersRCV000776665RCV003645108
NM_000059.4(BRCA2):c.5525C>T (p.Pro1842Leu) SNV
Germline		 Chr13:32339880 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1331207836

4 SubmittersRCV000777584RCV001036780
NM_000059.4(BRCA2):c.5604C>T (p.Asp1868=) SNV
Germline		 Chr13:32339959 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1401654517

4 SubmittersRCV000774480RCV001113819RCV001113820RCV001464209
NM_000059.4(BRCA2):c.5660C>G (p.Thr1887Arg) SNV
Germline		 Chr13:32340015 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507795

3 SubmittersRCV000774367RCV000820814
NM_000059.4(BRCA2):c.5757G>T (p.Lys1919Asn) SNV
Germline		 Chr13:32340112 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566233164

4 SubmittersRCV000773451RCV001216131
NM_000059.4(BRCA2):c.5968G>A (p.Asp1990Asn) SNV
Germline		 Chr13:32340323 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1566233648

5 SubmittersRCV000776818RCV001215284RCV004001484
NM_000059.4(BRCA2):c.6026A>G (p.Gln2009Arg) SNV
Germline		 Chr13:32340381 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1285547765

3 SubmittersRCV000772961RCV001057879
NM_000059.4(BRCA2):c.6043T>C (p.Leu2015=) SNV
Germline		 Chr13:32340398 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566233782

3 SubmittersRCV000773622RCV000985556RCV003645102
NM_000059.4(BRCA2):c.6202A>T (p.Ile2068Phe) SNV
Germline		 Chr13:32340557 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_755523944

3 SubmittersRCV000772971RCV000795104
NM_000059.4(BRCA2):c.6382A>G (p.Lys2128Glu) SNV
Germline		 Chr13:32340737 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358875

6 SubmittersRCV000772759RCV000985564RCV002534032
NM_000059.4(BRCA2):c.6397T>C (p.Ser2133Pro) SNV
Germline		 Chr13:32340752 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566234482

4 SubmittersRCV000771488RCV000793662
NM_000059.4(BRCA2):c.6400A>G (p.Asn2134Asp) SNV
Germline		 Chr13:32340755 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1434431480

3 SubmittersRCV000776831RCV001869114
NM_000059.4(BRCA2):c.6437A>G (p.Asn2146Ser) SNV
Germline		 Chr13:32340792 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_768512381

7 SubmittersRCV000772761RCV001856025RCV003153830RCV003493723RCV003999981
NM_000059.4(BRCA2):c.6472T>C (p.Phe2158Leu) SNV
Germline		 Chr13:32340827 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566234702

3 SubmittersRCV000773436RCV001856049
NM_000059.4(BRCA2):c.6477A>G (p.Gln2159=) SNV
Germline		 Chr13:32340832 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566234713

3 SubmittersRCV000773994RCV001230495
NM_000059.4(BRCA2):c.6509A>G (p.Lys2170Arg) SNV
Germline		 Chr13:32340864 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1252272917

5 SubmittersRCV000773364RCV001344373RCV004000006
NM_000059.4(BRCA2):c.6517C>T (p.Leu2173Phe) SNV
Germline		 Chr13:32340872 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566234827

3 SubmittersRCV000773928RCV003768353
NM_000059.4(BRCA2):c.6700T>C (p.Phe2234Leu) SNV
Germline		 Chr13:32341055 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_769956199

6 SubmittersRCV000772767RCV000985571RCV002534033
NM_000059.4(BRCA2):c.6766T>A (p.Cys2256Ser) SNV
Germline		 Chr13:32341121 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_559106452

3 SubmittersRCV000776904RCV002298766
NM_000059.4(BRCA2):c.6781G>A (p.Glu2261Lys) SNV
Germline		 Chr13:32341136 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660812

4 SubmittersRCV000773485RCV001856051
NM_000059.4(BRCA2):c.7025A>C (p.Gln2342Pro) SNV
Germline		 Chr13:32354878 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555285981

3 SubmittersRCV000777109RCV001216834
NM_000059.4(BRCA2):c.7847C>T (p.Ser2616Phe) SNV
Germline		 Chr13:32362564 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1174303167

5 SubmittersRCV000776833RCV001362915
NM_000059.4(BRCA2):c.9008G>A (p.Gly3003Glu) SNV
Germline		 Chr13:32379804 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 rs_1566253139

5 SubmittersRCV000773599RCV000799463RCV003472294
NM_000059.4(BRCA2):c.9403C>A (p.Leu3135Ile) SNV
Germline		 Chr13:32394835 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_55704151

3 SubmittersRCV000773137RCV000820508
NM_000059.4(BRCA2):c.9785A>C (p.Gln3262Pro) SNV
Germline		 Chr13:32398298 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566261012

3 SubmittersRCV000773733RCV001037554
NM_000059.4(BRCA2):c.10070C>G (p.Thr3357Arg) SNV
Germline		 Chr13:32398583 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_80358388

4 SubmittersRCV000772032RCV001065564RCV003317361RCV003478457
NM_000059.4(BRCA2):c.10138C>G (p.Leu3380Val) SNV
Germline		 Chr13:32398651 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566261456

2 SubmittersRCV000775006RCV001856102
NM_000059.4(BRCA2):c.10163C>A (p.Thr3388Lys) SNV
Germline		 Chr13:32398676 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1431008455

3 SubmittersRCV000773252RCV001856043
NM_000059.4(BRCA2):c.10192C>T (p.Gln3398Ter) SNV
Germline		 Chr13:32398705 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1566261530

3 SubmittersRCV000777586RCV001470794RCV001532897
NM_000059.4(BRCA2):c.10254C>G (p.Ile3418Met) SNV
Germline		 Chr13:32398767 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566261647

3 SubmittersRCV000776610RCV001307275
NM_024675.4(PALB2):c.73A>T (p.Lys25Ter) SNV
Germline		 Chr16:23638105 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1248579792

5 SubmittersRCV000772890RCV001030115RCV003155956
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly) SNV
Germline		 Chr17:43063874 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567769155

6 SubmittersRCV000772239RCV001076083RCV001050456
NM_007294.4(BRCA1):c.5141T>C (p.Val1714Ala) SNV
Germline		 Chr17:43063885 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_80357243

4 SubmittersRCV000774667RCV001061740RCV001072337
NM_007294.4(BRCA1):c.5140G>T (p.Val1714Phe) SNV
Germline		 Chr17:43063886 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1567769244

5 SubmittersRCV000777099RCV001072335RCV001254332RCV001759466
NM_007294.4(BRCA1):c.5087T>C (p.Val1696Ala) SNV
Germline		 Chr17:43063939 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_397509226

4 SubmittersRCV000777631RCV001350949RCV001072239
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser) SNV
Germline		 Chr17:43067679 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567772408

5 SubmittersRCV000773950RCV001077433RCV003155308
NM_007294.4(BRCA1):c.4973C>A (p.Thr1658Asn) SNV
Germline		 Chr17:43070941 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1015073230

5 SubmittersRCV000775095RCV001042739RCV001779075
NM_007294.4(BRCA1):c.4895T>G (p.Val1632Gly) SNV
Germline		 Chr17:43071019 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1397965282

6 SubmittersRCV000776974RCV001036972RCV001072804
NM_007294.4(BRCA1):c.4130G>A (p.Ser1377Asn) SNV
Germline		 Chr17:43090999 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567788442

3 SubmittersRCV000771507RCV003645092
NM_007294.4(BRCA1):c.4111G>A (p.Gly1371Arg) SNV
Germline		 Chr17:43091018 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_774593602

4 SubmittersRCV000775147RCV003316805RCV003768385
NM_007294.4(BRCA1):c.3753T>G (p.Cys1251Trp) SNV
Germline		 Chr17:43091778 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_397509098

4 SubmittersRCV000777511RCV001869125
NM_007294.4(BRCA1):c.3706A>G (p.Asn1236Asp) SNV
Germline		 Chr17:43091825 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567790509

4 SubmittersRCV000774962RCV001856101
NM_007294.4(BRCA1):c.3602G>A (p.Gly1201Asp) SNV
Germline		 Chr17:43091929 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567790971

4 SubmittersRCV000774966RCV001038890
NM_007294.4(BRCA1):c.3551G>A (p.Gly1184Glu) SNV
Germline		 Chr17:43091980 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567791181

3 SubmittersRCV000775324RCV001856110
NM_007294.4(BRCA1):c.3316C>T (p.Pro1106Ser) SNV
Germline		 Chr17:43092215 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_45599040

3 SubmittersRCV000775159RCV002536696
NM_007294.4(BRCA1):c.3218G>A (p.Gly1073Asp) SNV
Germline		 Chr17:43092313 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_757632961

4 SubmittersRCV000775161RCV001856106
NM_007294.4(BRCA1):c.3184G>A (p.Gly1062Ser) SNV
Germline		 Chr17:43092347 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567792594

3 SubmittersRCV000773019RCV000799621
NM_007294.4(BRCA1):c.3159A>C (p.Glu1053Asp) SNV
Germline		 Chr17:43092372 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567792698

6 SubmittersRCV000777018RCV003323719RCV003478473RCV003768414
NM_007294.4(BRCA1):c.3116C>T (p.Ala1039Val) SNV
Germline		 Chr17:43092415 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1173254670

4 SubmittersRCV000772846RCV001218973
NM_007294.4(BRCA1):c.3086A>G (p.Asn1029Ser) SNV
Germline		 Chr17:43092445 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_753286589

6 SubmittersRCV000775164RCV001357345RCV001302703RCV002477770
NM_007294.4(BRCA1):c.3000G>C (p.Glu1000Asp) SNV
Germline		 Chr17:43092531 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_748410422

5 SubmittersRCV000773648RCV001564802RCV001856059
NM_007294.4(BRCA1):c.2993T>A (p.Leu998Gln) SNV
Germline		 Chr17:43092538 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567793330

5 SubmittersRCV000773595RCV002268274RCV003645101
NM_007294.4(BRCA1):c.2908A>G (p.Lys970Glu) SNV
Germline		 Chr17:43092623 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567793674

3 SubmittersRCV000774970RCV003530103
NM_007294.4(BRCA1):c.2818G>C (p.Asp940His) SNV
Germline		 Chr17:43092713 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357077

3 SubmittersRCV000776919RCV001856138
NM_007294.4(BRCA1):c.2791G>A (p.Val931Met) SNV
Germline		 Chr17:43092740 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_763639161

5 SubmittersRCV000776796RCV002535576RCV004001483
NM_007294.4(BRCA1):c.2736G>T (p.Lys912Asn) SNV
Germline		 Chr17:43092795 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555589046

3 SubmittersRCV000772271RCV001856013
NM_007294.4(BRCA1):c.2626G>A (p.Gly876Arg) SNV
Germline		 Chr17:43092905 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567794885

4 SubmittersRCV000777401RCV003645113
NM_007294.4(BRCA1):c.2618C>T (p.Ser873Leu) SNV
Germline		 Chr17:43092913 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567794912

4 SubmittersRCV000776926RCV003645109
NM_007294.4(BRCA1):c.2546A>G (p.Glu849Gly) SNV
Germline		 Chr17:43092985 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567795227

4 SubmittersRCV000777420RCV001856144
NM_007294.4(BRCA1):c.2531G>A (p.Ser844Asn) SNV
Germline		 Chr17:43093000 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_56051266

6 SubmittersRCV000775167RCV000811474RCV003478465RCV004001430
NM_007294.4(BRCA1):c.2355A>C (p.Leu785Phe) SNV
Germline		 Chr17:43093176 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567795966

5 SubmittersRCV000773754RCV001290640RCV001210889
NM_007294.4(BRCA1):c.2300G>C (p.Ser767Thr) SNV
Germline		 Chr17:43093231 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567796202

3 SubmittersRCV000772876RCV003530098
NM_007294.4(BRCA1):c.2228A>G (p.Asn743Ser) SNV
Germline		 Chr17:43093303 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1567796489

5 SubmittersRCV000773409RCV001071988RCV001824878
NM_007294.4(BRCA1):c.2117C>T (p.Pro706Leu) SNV
Germline		 Chr17:43093414 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_759655692

5 SubmittersRCV000773202RCV001212251RCV001553218
NM_007294.4(BRCA1):c.2099T>C (p.Leu700Pro) SNV
Germline		 Chr17:43093432 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567797015

4 SubmittersRCV000777311RCV002535603
NM_007294.4(BRCA1):c.2078A>G (p.Asp693Gly) SNV
Germline		 Chr17:43093453 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_756748588

4 SubmittersRCV000775170RCV001193223RCV001220512
NM_007294.4(BRCA1):c.2042G>A (p.Ser681Asn) SNV
Germline		 Chr17:43093489 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1452826319

6 SubmittersRCV000775859RCV000814382RCV001585702RCV002465771RCV004001465
NM_007294.4(BRCA1):c.2038A>G (p.Lys680Glu) SNV
Germline		 Chr17:43093493 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1135401850

4 SubmittersRCV000773721RCV001856066
NM_007294.4(BRCA1):c.1954A>G (p.Lys652Glu) SNV
Germline		 Chr17:43093577 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1567797589

4 SubmittersRCV000773193RCV001217297RCV001356675
NM_007294.4(BRCA1):c.1903A>G (p.Asn635Asp) SNV
Germline		 Chr17:43093628 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567797783

3 SubmittersRCV000771181RCV002533984
NM_007294.4(BRCA1):c.1853G>C (p.Arg618Thr) SNV
Germline		 Chr17:43093678 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_876659527

3 SubmittersRCV000773028RCV003530099
NM_007294.4(BRCA1):c.1805A>G (p.Asn602Ser) SNV
Germline		 Chr17:43093726 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567798189

4 SubmittersRCV000772956RCV003645098
NM_007294.4(BRCA1):c.1679A>T (p.Asp560Val) SNV
Germline		 Chr17:43093852 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567798739

3 SubmittersRCV000773073RCV001850971
NM_007294.4(BRCA1):c.1676G>A (p.Gly559Asp) SNV
Germline		 Chr17:43093855 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_80356980

6 SubmittersRCV000774960RCV001221835RCV001766609RCV001825515
NM_007294.4(BRCA1):c.1670C>T (p.Thr557Ile) SNV
Germline		 Chr17:43093861 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567798771

3 SubmittersRCV000777127RCV001063252
NM_007294.4(BRCA1):c.1655G>A (p.Gly552Asp) SNV
Germline		 Chr17:43093876 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_397508893

3 SubmittersRCV000777432RCV001856145
NM_007294.4(BRCA1):c.1639A>T (p.Asn547Tyr) SNV
Germline		 Chr17:43093892 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060502351

3 SubmittersRCV000772385RCV002534016
NM_007294.4(BRCA1):c.1631A>T (p.Gln544Leu) SNV
Germline		 Chr17:43093900 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_397508892

5 SubmittersRCV000777334RCV001283886RCV002535607
NM_007294.4(BRCA1):c.1409G>A (p.Ser470Asn) SNV
Germline		 Chr17:43094122 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567799713

4 SubmittersRCV000771411RCV001203599
NM_007294.4(BRCA1):c.1270G>A (p.Gly424Ser) SNV
Germline		 Chr17:43094261 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_763051683

4 SubmittersRCV000775180RCV001856107RCV003413561
NM_007294.4(BRCA1):c.1187A>T (p.Asp396Val) SNV
Germline		 Chr17:43094344 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555592280

4 SubmittersRCV000773824RCV002536662
NM_007294.4(BRCA1):c.1160C>G (p.Ser387Cys) SNV
Germline		 Chr17:43094371 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567800665

3 SubmittersRCV000774825RCV003645105
NM_007294.4(BRCA1):c.1108G>C (p.Val370Leu) SNV
Germline		 Chr17:43094423 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567800850

3 SubmittersRCV000773010RCV002534048
NM_007294.4(BRCA1):c.932C>T (p.Pro311Leu) SNV
Germline		 Chr17:43094599 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1301795658

6 SubmittersRCV000773301RCV000810336RCV000985452RCV004000000
NM_007294.4(BRCA1):c.910T>C (p.Phe304Leu) SNV
Germline		 Chr17:43094621 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567801570

3 SubmittersRCV000774310RCV001044939
NM_007294.4(BRCA1):c.701C>A (p.Thr234Lys) SNV
Germline		 Chr17:43094830 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1555593290

6 SubmittersRCV000772908RCV001227361RCV001175429
NM_007294.4(BRCA1):c.697G>A (p.Val233Ile) SNV
Germline		 Chr17:43094834 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_959797914

5 SubmittersRCV000775097RCV000793987RCV004001427
NM_007294.4(BRCA1):c.483T>G (p.Thr161=) SNV
Germline		 Chr17:43099839 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060504575

4 SubmittersRCV000773594RCV001204476
NM_000059.4(BRCA2):c.9117+15T>C SNV
Germline		 Chr13:32379928 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566253419

2 SubmittersRCV000773407RCV002534061
NM_000059.4(BRCA2):c.7977-20A>G SNV
Germline		 Chr13:32363159 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555286924

2 SubmittersRCV000774414RCV002067296
NM_007294.4(BRCA1):c.5468-20C>T SNV
Germline		 Chr17:43045822 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1313891279

3 SubmittersRCV000774256RCV001412010RCV001788345
NM_000059.4(BRCA2):c.7805+6C>T SNV
Germline		 Chr13:32357935 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_81002819

3 SubmittersRCV000774274RCV001233744RCV003316804
NM_007294.4(BRCA1):c.5193+11G>T SNV
Germline		 Chr17:43063322 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567768534

4 SubmittersRCV000772863RCV000989870RCV001431204
NM_000059.4(BRCA2):c.8487+8G>T SNV
Germline		 Chr13:32370565 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_81002838

3 SubmittersRCV000773107RCV000924771RCV003478461
NM_000059.4(BRCA2):c.8488-3C>T SNV
Germline		 Chr13:32370953 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566249158

3 SubmittersRCV000774992RCV001873153
NM_007294.4(BRCA1):c.4485-11T>C SNV
Germline		 Chr17:43074532 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567778440

2 SubmittersRCV000771737RCV002061058
NM_007294.4(BRCA1):c.5333-483T>G SNV
Germline		 Chr17:43049677 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_967027857

2 SubmittersRCV000773065RCV001856040
NM_007294.4(BRCA1):c.301+3A>G SNV
Germline		 Chr17:43104865 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567810999

3 SubmittersRCV000772957RCV001072786RCV000811476
NM_007194.4(CHEK2):c.320-1G>T SNV
Germline		 Chr22:28725368 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_864622613

7 SubmittersRCV000777567RCV001355188RCV002535623RCV003479217
NM_000059.4(BRCA2):c.8332-13T>G SNV
Germline		 Chr13:32370389 Pathogenic Hereditary breast ovarian cancer syndrome No Assertion Criteria Provided
 rs_1593930050

1 SubmittersRCV000845283
NM_000059.4(BRCA2):c.8954-2A>T SNV
Germline		 Chr13:32379748 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1135401928

2 SubmittersRCV000845285
NM_024675.4(PALB2):c.3201+5G>T SNV
Germline		 Chr16:23613999 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1597073208

1 SubmittersRCV000845286
NM_007294.4(BRCA1):c.4185+4105C>T SNV
Germline		 Chr17:43086839 Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597853155

3 SubmittersRCV000845280RCV002332564RCV003461051
NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter) SNV
Germline		 Chr13:32325135 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555280859

4 SubmittersRCV000781157RCV001775998RCV002343639
NM_000059.4(BRCA2):c.1153A>C (p.Lys385Gln) SNV
Germline		 Chr13:32332631 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358411

5 SubmittersRCV000781133RCV001800882RCV002535689RCV003158128
NM_000059.4(BRCA2):c.1378A>C (p.Asn460His) SNV
Germline		 Chr13:32332856 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1270441968

6 SubmittersRCV000779960RCV001011236RCV002250695RCV003106057
NM_000059.4(BRCA2):c.1876G>A (p.Glu626Lys) SNV
Germline		 Chr13:32333354 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566224551

3 SubmittersRCV000779964RCV002535665RCV003158114
NM_000059.4(BRCA2):c.2480A>G (p.Asn827Ser) SNV
Germline		 Chr13:32336835 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566226814

3 SubmittersRCV000780033RCV001035152RCV003158118
NM_000059.4(BRCA2):c.2633A>T (p.Asp878Val) SNV
Germline		 Chr13:32336988 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_765618026

4 SubmittersRCV000781117RCV001064636RCV003158127RCV004569489
NM_000059.4(BRCA2):c.3185C>G (p.Pro1062Arg) SNV
Germline		 Chr13:32337540 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_564316199

5 SubmittersRCV000780005RCV001284418RCV001856181RCV002325479
NM_000059.4(BRCA2):c.3512C>T (p.Pro1171Leu) SNV
Germline		 Chr13:32337867 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 rs_1566228707

6 SubmittersRCV000781144RCV001856193RCV002290028RCV002458399RCV003492170
NM_000059.4(BRCA2):c.3796C>T (p.His1266Tyr) SNV
Germline		 Chr13:32338151 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566229153

3 SubmittersRCV000780009RCV003158115RCV003768452
NM_000059.4(BRCA2):c.3972T>G (p.Tyr1324Ter) SNV
Germline		 Chr13:32338327 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1131692119

1 SubmittersRCV000779939
NM_000059.4(BRCA2):c.4190A>C (p.Glu1397Ala) SNV
Germline		 Chr13:32338545 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566229868

4 SubmittersRCV000779973RCV002332567RCV003530111
NM_000059.4(BRCA2):c.4822G>T (p.Glu1608Ter) SNV
Germline		 Chr13:32339177 Likely pathogenic Hereditary breast ovarian cancer syndrome
Gastric cancer		 Criteria Provided
Single Submitter
 rs_1566231194

2 SubmittersRCV000780037RCV003166068
NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter) SNV
Germline		 Chr13:32339276 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566231364

3 SubmittersRCV000779928RCV002334452
NM_000059.4(BRCA2):c.6641C>T (p.Thr2214Ile) SNV
Germline		 Chr13:32340996 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566235063

6 SubmittersRCV000781158RCV000795801RCV001025490
NM_000059.4(BRCA2):c.6787G>A (p.Val2263Ile) SNV
Germline		 Chr13:32341142 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1566235410

6 SubmittersRCV000779956RCV001025643RCV001327053RCV001577122RCV004527809
NM_000059.4(BRCA2):c.7423G>T (p.Glu2475Ter) SNV
Germline		 Chr13:32355276 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566241336

2 SubmittersRCV000781099RCV002386365
NM_000059.4(BRCA2):c.8923G>A (p.Val2975Ile) SNV
Germline		 Chr13:32379485 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1006688520

4 SubmittersRCV000781152RCV001018512RCV001869158RCV003493730
NM_000059.4(BRCA2):c.9748T>A (p.Ser3250Thr) SNV
Germline		 Chr13:32398261 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1173590589

5 SubmittersRCV000781068RCV002535688RCV003478483RCV004569488RCV004027322
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter) SNV
Germline		 Chr16:23630142 Pathogenic/Likely pathogenic Familial cancer of breast
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_755263466

7 SubmittersRCV000780570RCV001355597RCV002422668RCV003155957
NM_007294.4(BRCA1):c.3674G>C (p.Cys1225Ser) SNV
Germline		 Chr17:43091857 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567790638

4 SubmittersRCV000779864RCV000820271RCV002458394
NM_007294.4(BRCA1):c.3524C>T (p.Ala1175Val) SNV
Germline		 Chr17:43092007 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567791322

4 SubmittersRCV000779870RCV001856180RCV003158112
NM_007294.4(BRCA1):c.2404G>A (p.Val802Met) SNV
Germline		 Chr17:43093127 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660885

3 SubmittersRCV000780983RCV001309194RCV003158120
NM_007294.4(BRCA1):c.2090T>A (p.Phe697Tyr) SNV
Germline		 Chr17:43093441 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_730881476

5 SubmittersRCV000780993RCV001525937RCV002536869
NM_007294.4(BRCA1):c.1310A>G (p.His437Arg) SNV
Germline		 Chr17:43094221 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_80357255

6 SubmittersRCV000780979RCV001010894RCV001051363RCV003316807
NM_000059.4(BRCA2):c.476-8A>G SNV
Germline		 Chr13:32326234 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1311844326

2 SubmittersRCV000781063RCV002535687
NM_000059.4(BRCA2):c.682-13A>T SNV
Germline		 Chr13:32330906 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_81002888

3 SubmittersRCV000781087RCV001188241RCV002067376
NM_000059.4(BRCA2):c.8953+8T>A SNV
Germline		 Chr13:32379523 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566252871

2 SubmittersRCV000781119RCV001051698
NM_000059.4(BRCA2):c.9649-17T>C SNV
Germline		 Chr13:32398145 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566260726

3 SubmittersRCV000781161RCV002535690RCV004017738
NM_000546.6(TP53):c.919+2T>A SNV
Germline		 Chr17:7673699 Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 rs_1131691016

2 SubmittersRCV000782138RCV003884726
NM_007294.4(BRCA1):c.4093T>G (p.Leu1365Val) SNV
Germline		 Chr17:43091438 Conflicting classifications of pathogenicity Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567788936

4 SubmittersRCV000785412RCV002325488RCV003530112
NM_000251.3(MSH2):c.2209A>G (p.Arg737Gly) SNV
Germline		 Chr2:47476570 Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1573570754

4 SubmittersRCV000798577RCV001014790RCV001030714RCV001592981
NM_021930.6(RINT1):c.448A>C (p.Ser150Arg) SNV
Germline		 Chr7:105542582 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_780699445

4 SubmittersRCV000812606RCV001030663RCV004028774
NM_021930.6(RINT1):c.1603C>T (p.Arg535Ter) SNV
Germline		 Chr7:105555159 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_764298491

3 SubmittersRCV000813788RCV001030666RCV004028801
NM_000059.4(BRCA2):c.314T>A (p.Leu105Ter) SNV
Germline		 Chr13:32319323 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_80358561

1 SubmittersRCV000802493
NM_000059.4(BRCA2):c.497A>G (p.His166Arg) SNV
Germline		 Chr13:32326263 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_876658364

3 SubmittersRCV000791834RCV002334464RCV003453638
NM_000059.4(BRCA2):c.748G>A (p.Val250Met) SNV
Germline		 Chr13:32330985 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 rs_1593890284

4 SubmittersRCV000794730RCV001188264RCV004569531
NM_000059.4(BRCA2):c.855G>T (p.Lys285Asn) SNV
Germline		 Chr13:32332333 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1389778857

4 SubmittersRCV000806953RCV001189240
NM_000059.4(BRCA2):c.866A>G (p.Asn289Ser) SNV
Germline		 Chr13:32332344 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593891336

3 SubmittersRCV000822597RCV002372354
NM_000059.4(BRCA2):c.875A>C (p.Glu292Ala) SNV
Germline		 Chr13:32332353 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593891360

2 SubmittersRCV000821316RCV003158243
NM_000059.4(BRCA2):c.886T>A (p.Tyr296Asn) SNV
Germline		 Chr13:32332364 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1347459118

2 SubmittersRCV000814047RCV003158212
NM_000059.4(BRCA2):c.901G>T (p.Asp301Tyr) SNV
Germline		 Chr13:32332379 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555281626

2 SubmittersRCV000822323RCV003158249
NM_000059.4(BRCA2):c.989A>G (p.Lys330Arg) SNV
Germline		 Chr13:32332467 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593891700

2 SubmittersRCV000806356RCV003158188
NM_000059.4(BRCA2):c.1016A>G (p.Asp339Gly) SNV
Germline		 Chr13:32332494 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1244056899

3 SubmittersRCV001017009RCV000804389
NM_000059.4(BRCA2):c.1064T>C (p.Val355Ala) SNV
Germline		 Chr13:32332542 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593891845

2 SubmittersRCV000814843RCV003158214
NM_000059.4(BRCA2):c.1281C>A (p.Asp427Glu) SNV
Germline		 Chr13:32332759 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_772430226

2 SubmittersRCV000803854RCV003158174
NM_000059.4(BRCA2):c.1347T>G (p.Ile449Met) SNV
Germline		 Chr13:32332825 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_755908353

2 SubmittersRCV000803832RCV003158173
NM_000059.4(BRCA2):c.1384G>T (p.Glu462Ter) SNV
Germline		 Chr13:32332862 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1593892698

2 SubmittersRCV000815236RCV002390651
NM_000059.4(BRCA2):c.1386A>C (p.Glu462Asp) SNV
Germline		 Chr13:32332864 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593892709

2 SubmittersRCV000806938RCV003158191
NM_000059.4(BRCA2):c.1463T>A (p.Ile488Lys) SNV
Germline		 Chr13:32332941 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358436

2 SubmittersRCV000802370RCV003158168
NM_000059.4(BRCA2):c.1592A>G (p.Lys531Arg) SNV
Germline		 Chr13:32333070 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876658771

2 SubmittersRCV000814013RCV003158211
NM_000059.4(BRCA2):c.1606T>A (p.Ser536Thr) SNV
Germline		 Chr13:32333084 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1227088794

3 SubmittersRCV000805866RCV002397639
NM_000059.4(BRCA2):c.1639T>A (p.Ser547Thr) SNV
Germline		 Chr13:32333117 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593893412

2 SubmittersRCV000805775RCV003158186
NM_000059.4(BRCA2):c.1682G>T (p.Gly561Val) SNV
Germline		 Chr13:32333160 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593893593

3 SubmittersRCV000804687RCV002397634
NM_000059.4(BRCA2):c.1718C>T (p.Ala573Val) SNV
Germline		 Chr13:32333196 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1262187089

4 SubmittersRCV000816917RCV002397700RCV004001793
NM_000059.4(BRCA2):c.1741T>G (p.Ser581Ala) SNV
Germline		 Chr13:32333219 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_55667299

2 SubmittersRCV000819863RCV003158235
NM_000059.4(BRCA2):c.1796C>G (p.Ser599Cys) SNV
Germline		 Chr13:32333274 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1046984

3 SubmittersRCV000813884RCV001805890
NM_000059.4(BRCA2):c.1802A>G (p.Lys601Arg) SNV
Germline		 Chr13:32333280 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593893911

3 SubmittersRCV000815121RCV001525408
NM_000059.4(BRCA2):c.1871C>T (p.Ala624Val) SNV
Germline		 Chr13:32333349 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Ovarian cancer
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_769698255

4 SubmittersRCV000815133RCV003153856RCV002406850
NM_000059.4(BRCA2):c.1874T>C (p.Phe625Ser) SNV
Germline		 Chr13:32333352 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587779359

2 SubmittersRCV000795506RCV003158146
NM_000059.4(BRCA2):c.1942T>A (p.Ser648Thr) SNV
Germline		 Chr13:32336297 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 rs_1593895835

3 SubmittersRCV000801031RCV003158164RCV003607361
NM_000059.4(BRCA2):c.1955C>T (p.Ser652Phe) SNV
Germline		 Chr13:32336310 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593895864

2 SubmittersRCV000808092RCV003158196
NM_000059.4(BRCA2):c.1964C>T (p.Pro655Leu) SNV
Germline		 Chr13:32336319 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_28897712

5 SubmittersRCV000822326RCV003158250RCV004002840
NM_000059.4(BRCA2):c.2030C>A (p.Ser677Tyr) SNV
Germline		 Chr13:32336385 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282410

3 SubmittersRCV000820096RCV003150355RCV003158238
NM_000059.4(BRCA2):c.2143G>A (p.Gly715Arg) SNV
Germline		 Chr13:32336498 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1007336407

3 SubmittersRCV000801531RCV001014596
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val) SNV
Germline		 Chr13:32336604 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
8 conditions
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282574

4 SubmittersRCV000821788RCV002495176RCV003158246
NM_000059.4(BRCA2):c.2280A>C (p.Leu760Phe) SNV
Germline		 Chr13:32336635 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593896537

3 SubmittersRCV000816378RCV001186346
NM_000059.4(BRCA2):c.2406T>A (p.Asn802Lys) SNV
Germline		 Chr13:32336761 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593896868

3 SubmittersRCV000815751RCV003158218
NM_000059.4(BRCA2):c.2413T>C (p.Ser805Pro) SNV
Germline		 Chr13:32336768 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593896883

2 SubmittersRCV000806908RCV003158190
NM_000059.4(BRCA2):c.2429C>G (p.Thr810Ser) SNV
Germline		 Chr13:32336784 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358509

3 SubmittersRCV000793669RCV000985480RCV003158141
NM_000059.4(BRCA2):c.2504C>T (p.Pro835Leu) SNV
Germline		 Chr13:32336859 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593897100

3 SubmittersRCV000796259RCV003158149
NM_000059.4(BRCA2):c.2506C>T (p.Pro836Ser) SNV
Germline		 Chr13:32336861 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593897105

3 SubmittersRCV000792341RCV002424793
NM_000059.4(BRCA2):c.2512A>T (p.Lys838Ter) SNV
Germline		 Chr13:32336867 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_747578057

2 SubmittersRCV000800380RCV000989013
NM_000059.4(BRCA2):c.2544G>C (p.Lys848Asn) SNV
Germline		 Chr13:32336899 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_78879762

3 SubmittersRCV000821730RCV002427062
NM_000059.4(BRCA2):c.2574A>C (p.Arg858Ser) SNV
Germline		 Chr13:32336929 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593897255

2 SubmittersRCV000810185RCV003158199
NM_000059.4(BRCA2):c.2580C>G (p.Ile860Met) SNV
Germline		 Chr13:32336935 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593897261

3 SubmittersRCV000800875RCV002234722RCV003158163
NM_000059.4(BRCA2):c.2651C>T (p.Ser884Leu) SNV
Germline		 Chr13:32337006 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_777421358

4 SubmittersRCV000814978RCV001016215RCV004001769
NM_000059.4(BRCA2):c.2672T>A (p.Val891Asp) SNV
Germline		 Chr13:32337027 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1593897497

5 SubmittersRCV000803661RCV001180889RCV001526975
NM_000059.4(BRCA2):c.2689G>C (p.Glu897Gln) SNV
Germline		 Chr13:32337044 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_979372317

3 SubmittersRCV000822513RCV002453896
NM_000059.4(BRCA2):c.2782G>A (p.Val928Ile) SNV
Germline		 Chr13:32337137 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593897751

2 SubmittersRCV000802528RCV003158170
NM_000059.4(BRCA2):c.2892A>C (p.Lys964Asn) SNV
Germline		 Chr13:32337247 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587778119

2 SubmittersRCV000818818RCV003158232
NM_000059.4(BRCA2):c.2956A>G (p.Asn986Asp) SNV
Germline		 Chr13:32337311 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_760142268

3 SubmittersRCV000818579RCV003158230RCV004001813
NM_000059.4(BRCA2):c.2962G>T (p.Asp988Tyr) SNV
Germline		 Chr13:32337317 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593898237

2 SubmittersRCV000807939RCV003158194
NM_000059.4(BRCA2):c.3011G>A (p.Ser1004Asn) SNV
Germline		 Chr13:32337366 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593898366

3 SubmittersRCV000793104RCV001191420
NM_000059.4(BRCA2):c.3043A>C (p.Lys1015Gln) SNV
Germline		 Chr13:32337398 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507652

2 SubmittersRCV000808370RCV003158197
NM_000059.4(BRCA2):c.3054G>C (p.Lys1018Asn) SNV
Germline		 Chr13:32337409 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_368404583

2 SubmittersRCV000820687RCV003158241
NM_000059.4(BRCA2):c.3064C>A (p.His1022Asn) SNV
Germline		 Chr13:32337419 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_765882871

2 SubmittersRCV000819707RCV003158234
NM_000059.4(BRCA2):c.3081C>A (p.Ser1027Arg) SNV
Germline		 Chr13:32337436 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593898540

2 SubmittersRCV000792575RCV003158133
NM_000059.4(BRCA2):c.3094A>T (p.Lys1032Ter) SNV
Germline		 Chr13:32337449 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1593898563

1 SubmittersRCV000812292
NM_000059.4(BRCA2):c.3125T>C (p.Leu1042Ser) SNV
Germline		 Chr13:32337480 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593898642

2 SubmittersRCV000806071RCV003158187
NM_000059.4(BRCA2):c.3139A>G (p.Ile1047Val) SNV
Germline		 Chr13:32337494 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593898670

2 SubmittersRCV000797217RCV003158152
NM_000059.4(BRCA2):c.3172A>C (p.Lys1058Gln) SNV
Germline		 Chr13:32337527 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_730881521

4 SubmittersRCV000817759RCV001192229
NM_000059.4(BRCA2):c.3320A>C (p.Gln1107Pro) SNV
Germline		 Chr13:32337675 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593899174

3 SubmittersRCV000804215RCV002325556
NM_000059.4(BRCA2):c.3352T>G (p.Leu1118Val) SNV
Germline		 Chr13:32337707 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593899300

2 SubmittersRCV000799918RCV003158159
NM_000059.4(BRCA2):c.3355G>C (p.Glu1119Gln) SNV
Germline		 Chr13:32337710 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593899314

2 SubmittersRCV000816667RCV003158221
NM_000059.4(BRCA2):c.3400A>G (p.Ser1134Gly) SNV
Germline		 Chr13:32337755 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593899420

2 SubmittersRCV000823869RCV003158253
NM_000059.4(BRCA2):c.3448A>T (p.Thr1150Ser) SNV
Germline		 Chr13:32337803 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_367789070

2 SubmittersRCV000804974RCV003158180
NM_000059.4(BRCA2):c.3491T>A (p.Leu1164His) SNV
Germline		 Chr13:32337846 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_746847103

2 SubmittersRCV000821736RCV003158245
NM_000059.4(BRCA2):c.3514T>G (p.Ser1172Ala) SNV
Germline		 Chr13:32337869 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593899773

2 SubmittersRCV000793238RCV003158139
NM_000059.4(BRCA2):c.3530A>C (p.Asp1177Ala) SNV
Germline		 Chr13:32337885 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_761130568

3 SubmittersRCV000818474RCV001020540
NM_000059.4(BRCA2):c.3554C>T (p.Thr1185Ile) SNV
Germline		 Chr13:32337909 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593899867

2 SubmittersRCV000804164RCV003158176
NM_000059.4(BRCA2):c.3569G>T (p.Arg1190Leu) SNV
Germline		 Chr13:32337924 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358605

2 SubmittersRCV000824635RCV003158256
NM_000059.4(BRCA2):c.3600T>A (p.Cys1200Ter) SNV
Germline		 Chr13:32337955 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_786203359

2 SubmittersRCV000811958RCV000985508
NM_000059.4(BRCA2):c.3635A>G (p.Asn1212Ser) SNV
Germline		 Chr13:32337990 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358609

3 SubmittersRCV000824352RCV002453905
NM_000059.4(BRCA2):c.3650G>C (p.Arg1217Thr) SNV
Germline		 Chr13:32338005 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1306577496

2 SubmittersRCV000795630RCV003158147
NM_000059.4(BRCA2):c.3709G>A (p.Ala1237Thr) SNV
Germline		 Chr13:32338064 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122770

3 SubmittersRCV000794603RCV003158144
NM_000059.4(BRCA2):c.3822G>T (p.Lys1274Asn) SNV
Germline		 Chr13:32338177 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283410

2 SubmittersRCV000804303RCV003158177
NM_000059.4(BRCA2):c.3827A>G (p.Glu1276Gly) SNV
Germline		 Chr13:32338182 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060502487

6 SubmittersRCV000794044RCV000985513RCV001021235
NM_000059.4(BRCA2):c.3859A>T (p.Asn1287Tyr) SNV
Germline		 Chr13:32338214 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1566229283

5 SubmittersRCV000813451RCV001021305RCV003322828
NM_000059.4(BRCA2):c.3932A>G (p.Glu1311Gly) SNV
Germline		 Chr13:32338287 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593900953

3 SubmittersRCV000807530RCV002370154
NM_000059.4(BRCA2):c.3950C>T (p.Thr1317Ile) SNV
Germline		 Chr13:32338305 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901002

2 SubmittersRCV000815820RCV003158219
NM_000059.4(BRCA2):c.3968A>G (p.Lys1323Arg) SNV
Germline		 Chr13:32338323 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1593901051

4 SubmittersRCV000795521RCV002325513RCV003478492
NM_000059.4(BRCA2):c.4031A>C (p.Asn1344Thr) SNV
Germline		 Chr13:32338386 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901214

2 SubmittersRCV000792764RCV003158134
NM_000059.4(BRCA2):c.4042T>A (p.Cys1348Ser) SNV
Germline		 Chr13:32338397 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_199863034

2 SubmittersRCV000792854RCV003158135
NM_000059.4(BRCA2):c.4063G>A (p.Asp1355Asn) SNV
Germline		 Chr13:32338418 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901299

2 SubmittersRCV000821925RCV003158247
NM_000059.4(BRCA2):c.4220A>G (p.Glu1407Gly) SNV
Germline		 Chr13:32338575 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901726

4 SubmittersRCV000817887RCV001805894
NM_000059.4(BRCA2):c.4256A>T (p.Lys1419Ile) SNV
Germline		 Chr13:32338611 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901833

2 SubmittersRCV000797911RCV003158153
NM_000059.4(BRCA2):c.4268C>T (p.Thr1423Ile) SNV
Germline		 Chr13:32338623 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901864

5 SubmittersRCV000824190RCV001022181
NM_000059.4(BRCA2):c.4281T>G (p.Phe1427Leu) SNV
Germline		 Chr13:32338636 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901912

2 SubmittersRCV000793051RCV003158138
NM_000059.4(BRCA2):c.4351G>A (p.Asp1451Asn) SNV
Germline		 Chr13:32338706 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593902107

2 SubmittersRCV000794166RCV003158143
NM_000059.4(BRCA2):c.4384T>G (p.Leu1462Val) SNV
Germline		 Chr13:32338739 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593902198

3 SubmittersRCV000816482RCV001022395
NM_000059.4(BRCA2):c.4442A>T (p.Glu1481Val) SNV
Germline		 Chr13:32338797 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593902385

2 SubmittersRCV000793500RCV003158140
NM_000059.4(BRCA2):c.4451A>G (p.Asp1484Gly) SNV
Germline		 Chr13:32338806 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1327059542

3 SubmittersRCV000795494RCV001188267
NM_000059.4(BRCA2):c.4582A>G (p.Ser1528Gly) SNV
Germline		 Chr13:32338937 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593902831

2 SubmittersRCV000803666RCV003158172
NM_000059.4(BRCA2):c.4612T>C (p.Ser1538Pro) SNV
Germline		 Chr13:32338967 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566230812

2 SubmittersRCV000821646RCV003158244
NM_000059.4(BRCA2):c.4696A>T (p.Thr1566Ser) SNV
Germline		 Chr13:32339051 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283904

2 SubmittersRCV000820718RCV003158242
NM_000059.4(BRCA2):c.4735G>A (p.Ala1579Thr) SNV
Germline		 Chr13:32339090 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566231045

2 SubmittersRCV000807955RCV003158195
NM_000059.4(BRCA2):c.4808A>C (p.Asn1603Thr) SNV
Germline		 Chr13:32339163 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_890665355

2 SubmittersRCV000792219RCV003158132
NM_000059.4(BRCA2):c.4849A>G (p.Ser1617Gly) SNV
Germline		 Chr13:32339204 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358707

2 SubmittersRCV000822052RCV003158248
NM_000059.4(BRCA2):c.4853A>G (p.Asp1618Gly) SNV
Germline		 Chr13:32339208 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593903587

2 SubmittersRCV000804509RCV003158178
NM_000059.4(BRCA2):c.4906A>C (p.Lys1636Gln) SNV
Germline		 Chr13:32339261 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122788

2 SubmittersRCV000811045RCV003158204
NM_000059.4(BRCA2):c.4907A>G (p.Lys1636Arg) SNV
Germline		 Chr13:32339262 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593903754

2 SubmittersRCV000799810RCV003158158
NM_000059.4(BRCA2):c.4923A>C (p.Glu1641Asp) SNV
Germline		 Chr13:32339278 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566231372

3 SubmittersRCV000818758RCV001023272
NM_000059.4(BRCA2):c.4952C>A (p.Pro1651His) SNV
Germline		 Chr13:32339307 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_565268514

3 SubmittersRCV000811504RCV001597217RCV003158205
NM_000059.4(BRCA2):c.5029A>G (p.Arg1677Gly) SNV
Germline		 Chr13:32339384 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593904196

3 SubmittersRCV000820530RCV002336708
NM_000059.4(BRCA2):c.5036C>G (p.Thr1679Ser) SNV
Germline		 Chr13:32339391 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593904210

2 SubmittersRCV000801443RCV003158166
NM_000059.4(BRCA2):c.5048A>C (p.Gln1683Pro) SNV
Germline		 Chr13:32339403 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782738

2 SubmittersRCV000819147RCV003158233
NM_000059.4(BRCA2):c.5077C>T (p.Leu1693Phe) SNV
Germline		 Chr13:32339432 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593904331

2 SubmittersRCV000792020RCV003158131
NM_000059.4(BRCA2):c.5086G>A (p.Gly1696Arg) SNV
Germline		 Chr13:32339441 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593904356

3 SubmittersRCV000791533RCV001023511
NM_000059.4(BRCA2):c.5108A>G (p.Glu1703Gly) SNV
Germline		 Chr13:32339463 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_746177907

2 SubmittersRCV000803856RCV003158175
NM_000059.4(BRCA2):c.5135G>A (p.Gly1712Glu) SNV
Germline		 Chr13:32339490 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1453037467

3 SubmittersRCV000798735RCV002334506
NM_000059.4(BRCA2):c.5146T>C (p.Tyr1716His) SNV
Germline		 Chr13:32339501 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593904536

4 SubmittersRCV000810197RCV002336665
NM_000059.4(BRCA2):c.5174C>T (p.Ala1725Val) SNV
Germline		 Chr13:32339529 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593904638

3 SubmittersRCV000817832RCV003158225
NM_000059.4(BRCA2):c.5211T>A (p.Asp1737Glu) SNV
Germline		 Chr13:32339566 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593904769

2 SubmittersRCV000815694RCV003158217
NM_000059.4(BRCA2):c.5213C>A (p.Thr1738Asn) SNV
Germline		 Chr13:32339568 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593904785

3 SubmittersRCV000823385RCV003158251
NM_000059.4(BRCA2):c.5294A>G (p.Lys1765Arg) SNV
Germline		 Chr13:32339649 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593905069

2 SubmittersRCV000793010RCV003158137
NM_000059.4(BRCA2):c.5312G>C (p.Gly1771Ala) SNV
Germline		 Chr13:32339667 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358755

3 SubmittersRCV000821740RCV001023906
NM_000059.4(BRCA2):c.5385A>T (p.Lys1795Asn) SNV
Germline		 Chr13:32339740 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593905343

2 SubmittersRCV000823594RCV003158252
NM_000059.4(BRCA2):c.5427C>A (p.Cys1809Ter) SNV
Germline		 Chr13:32339782 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_80359791

1 SubmittersRCV000817829
NM_000059.4(BRCA2):c.5487G>C (p.Leu1829Phe) SNV
Germline		 Chr13:32339842 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_779967765

3 SubmittersRCV000810669RCV003158203
NM_000059.4(BRCA2):c.5500A>T (p.Ser1834Cys) SNV
Germline		 Chr13:32339855 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_760602053

3 SubmittersRCV000795909RCV003158148
NM_000059.4(BRCA2):c.5514G>T (p.Glu1838Asp) SNV
Germline		 Chr13:32339869 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593905671

2 SubmittersRCV000805672RCV003158185
NM_000059.4(BRCA2):c.5518G>A (p.Gly1840Arg) SNV
Germline		 Chr13:32339873 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_398122533

4 SubmittersRCV000813362RCV003158210RCV003994125
NM_000059.4(BRCA2):c.5624A>C (p.Lys1875Thr) SNV
Germline		 Chr13:32339979 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 rs_587782583

5 SubmittersRCV000791555RCV001182539RCV002250697
NM_000059.4(BRCA2):c.5807T>G (p.Met1936Arg) SNV
Germline		 Chr13:32340162 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1376128381

2 SubmittersRCV000792996RCV003158136
NM_000059.4(BRCA2):c.5819A>G (p.Glu1940Gly) SNV
Germline		 Chr13:32340174 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1593906648

4 SubmittersRCV000800782RCV002352359RCV004001638
NM_000059.4(BRCA2):c.5835A>G (p.Ile1945Met) SNV
Germline		 Chr13:32340190 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1593906680

4 SubmittersRCV000817783RCV002352440RCV004001808
NM_000059.4(BRCA2):c.5885T>G (p.Ile1962Arg) SNV
Germline		 Chr13:32340240 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060502377

2 SubmittersRCV000805492RCV003158183
NM_000059.4(BRCA2):c.5912C>T (p.Ser1971Phe) SNV
Germline		 Chr13:32340267 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593906913

3 SubmittersRCV000819622RCV002352449
NM_000059.4(BRCA2):c.5936G>A (p.Ser1979Asn) SNV
Germline		 Chr13:32340291 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593906980

3 SubmittersRCV000793447RCV002352317
NM_000059.4(BRCA2):c.6076A>T (p.Thr2026Ser) SNV
Germline		 Chr13:32340431 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782249

4 SubmittersRCV000807367RCV001024864
NM_000059.4(BRCA2):c.6130G>C (p.Gly2044Arg) SNV
Germline		 Chr13:32340485 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593907627

3 SubmittersRCV000791734RCV003158130
NM_000059.4(BRCA2):c.6224A>G (p.Lys2075Arg) SNV
Germline		 Chr13:32340579 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593907916

2 SubmittersRCV000820445RCV003158240
NM_000059.4(BRCA2):c.6232G>T (p.Gly2078Ter) SNV
Germline		 Chr13:32340587 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555284605

2 SubmittersRCV000791739RCV003472331
NM_000059.4(BRCA2):c.6260G>C (p.Arg2087Thr) SNV
Germline		 Chr13:32340615 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593908026

3 SubmittersRCV000801266RCV003158165
NM_000059.4(BRCA2):c.6319C>A (p.Pro2107Thr) SNV
Germline		 Chr13:32340674 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1593908231

6 SubmittersRCV000817607RCV001177191RCV001759593
NM_000059.4(BRCA2):c.6406T>G (p.Leu2136Val) SNV
Germline		 Chr13:32340761 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1231977477

3 SubmittersRCV000822457RCV002363169
NM_000059.4(BRCA2):c.6422G>T (p.Gly2141Val) SNV
Germline		 Chr13:32340777 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_756885337

3 SubmittersRCV000807839RCV001191355
NM_000059.4(BRCA2):c.6446T>G (p.Ile2149Ser) SNV
Germline		 Chr13:32340801 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593908714

2 SubmittersRCV000814468RCV003158213
NM_000059.4(BRCA2):c.6455C>G (p.Ser2152Cys) SNV
Germline		 Chr13:32340810 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358881

2 SubmittersRCV000818496RCV003158228
NM_000059.4(BRCA2):c.6529A>G (p.Ile2177Val) SNV
Germline		 Chr13:32340884 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1593908997

4 SubmittersRCV000799468RCV001577655RCV003158157RCV004001626
NM_000059.4(BRCA2):c.6704T>C (p.Met2235Thr) SNV
Germline		 Chr13:32341059 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593909552

2 SubmittersRCV000811850RCV003158206
NM_000059.4(BRCA2):c.6751C>T (p.His2251Tyr) SNV
Germline		 Chr13:32341106 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1260385979

3 SubmittersRCV000795503RCV001025612
NM_000059.4(BRCA2):c.6766T>C (p.Cys2256Arg) SNV
Germline		 Chr13:32341121 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_559106452

3 SubmittersRCV000820020RCV003158236
NM_000059.4(BRCA2):c.7399G>A (p.Ala2467Thr) SNV
Germline		 Chr13:32355252 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593918596

2 SubmittersRCV000793625RCV002386386
NM_000059.4(BRCA2):c.7714A>G (p.Ser2572Gly) SNV
Germline		 Chr13:32357838 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060502442

3 SubmittersRCV000820515RCV001178490
NM_000059.4(BRCA2):c.9667G>T (p.Glu3223Ter) SNV
Germline		 Chr13:32398180 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1593201632

1 SubmittersRCV000792617
NM_000059.4(BRCA2):c.10078A>G (p.Lys3360Glu) SNV
Germline		 Chr13:32398591 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1593202262

4 SubmittersRCV001009673RCV000803795RCV002268293
NM_003384.3(VRK1):c.683C>T (p.Thr228Met) SNV
Germline		 Chr14:96855330 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Pontocerebellar hypoplasia type 1A
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_146113610

5 SubmittersRCV001374508RCV001830759RCV003226397RCV004028265
NM_007294.4(BRCA1):c.5407G>T (p.Gly1803Cys) SNV
Germline		 Chr17:43047703 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_876659510

5 SubmittersRCV000807420RCV001178400RCV001077366
NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr) SNV
Germline		 Chr17:43049167 Likely pathogenic Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597801649

7 SubmittersRCV000820100RCV001004839RCV001073117RCV003442114RCV004029025
NM_007294.4(BRCA1):c.5201T>G (p.Phe1734Cys) SNV
Germline		 Chr17:43057128 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397509237

4 SubmittersRCV000800802RCV001072514RCV001524488
NM_007294.4(BRCA1):c.5195A>G (p.His1732Arg) SNV
Germline		 Chr17:43057134 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597811076

3 SubmittersRCV000809365RCV001076203RCV002336658
NM_007294.4(BRCA1):c.5067G>A (p.Met1689Ile) SNV
Germline		 Chr17:43067615 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597825629

3 SubmittersRCV000798297RCV001076311RCV002334499
NM_007294.4(BRCA1):c.4970T>C (p.Leu1657Pro) SNV
Germline		 Chr17:43070944 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597830263

3 SubmittersRCV000818954RCV001072901RCV001023347
NM_007294.4(BRCA1):c.4942A>T (p.Lys1648Ter) SNV
Germline		 Chr17:43070972 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_747694453

4 SubmittersRCV000805806RCV001073183RCV002345809
NM_007294.4(BRCA1):c.4082T>C (p.Met1361Thr) SNV
Germline		 Chr17:43091449 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_763596987

3 SubmittersRCV000803534RCV002325552
NM_007294.4(BRCA1):c.4057G>A (p.Glu1353Lys) SNV
Germline		 Chr17:43091474 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357178

3 SubmittersRCV000811766RCV001525026
NM_007294.4(BRCA1):c.3886T>C (p.Phe1296Leu) SNV
Germline		 Chr17:43091645 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597860658

2 SubmittersRCV000815649RCV003158216
NM_007294.4(BRCA1):c.3843G>T (p.Gln1281His) SNV
Germline		 Chr17:43091688 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597860926

2 SubmittersRCV000793802RCV003158142
NM_007294.4(BRCA1):c.3737C>T (p.Thr1246Ile) SNV
Germline		 Chr17:43091794 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_878854949

2 SubmittersRCV000805482RCV003158182
NM_007294.4(BRCA1):c.3614G>T (p.Gly1205Val) SNV
Germline		 Chr17:43091917 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597862536

2 SubmittersRCV000806757RCV003158189
NM_007294.4(BRCA1):c.3521C>G (p.Ser1174Cys) SNV
Germline		 Chr17:43092010 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1055368753

4 SubmittersRCV000806901RCV001020516RCV002279542
NM_007294.4(BRCA1):c.3510T>G (p.Ile1170Met) SNV
Germline		 Chr17:43092021 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_183119644

3 SubmittersRCV000805699RCV001176484
NM_007294.4(BRCA1):c.3479A>C (p.Lys1160Thr) SNV
Germline		 Chr17:43092052 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597863410

2 SubmittersRCV000824010RCV003158254
NM_007294.4(BRCA1):c.3472G>A (p.Glu1158Lys) SNV
Germline		 Chr17:43092059 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397509072

3 SubmittersRCV000805960RCV002453803
NM_007294.4(BRCA1):c.3385A>G (p.Ile1129Val) SNV
Germline		 Chr17:43092146 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597863986

2 SubmittersRCV000804677RCV003158179
NM_007294.4(BRCA1):c.3338A>G (p.Tyr1113Cys) SNV
Germline		 Chr17:43092193 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1225577943

2 SubmittersRCV000798832RCV003158155
NM_007294.4(BRCA1):c.3301A>G (p.Ser1101Gly) SNV
Germline		 Chr17:43092230 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597864528

2 SubmittersRCV000812507RCV003158207
NM_007294.4(BRCA1):c.3281A>G (p.Tyr1094Cys) SNV
Germline		 Chr17:43092250 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597864637

3 SubmittersRCV000792169RCV001805857
NM_007294.4(BRCA1):c.3242A>G (p.Asn1081Ser) SNV
Germline		 Chr17:43092289 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_753440254

2 SubmittersRCV000820078RCV003158237
NM_007294.4(BRCA1):c.3199A>T (p.Asn1067Tyr) SNV
Germline		 Chr17:43092332 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597865137

4 SubmittersRCV000817971RCV003158226
NM_007294.4(BRCA1):c.3139G>A (p.Val1047Ile) SNV
Germline		 Chr17:43092392 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597865476

2 SubmittersRCV000816784RCV003158222
NM_007294.4(BRCA1):c.3124A>C (p.Ser1042Arg) SNV
Germline		 Chr17:43092407 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597865563

2 SubmittersRCV000807696RCV003158193
NM_007294.4(BRCA1):c.3029C>T (p.Pro1010Leu) SNV
Germline		 Chr17:43092502 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1597866094

4 SubmittersRCV000822403RCV001018167RCV004002841
NM_007294.4(BRCA1):c.2993T>G (p.Leu998Arg) SNV
Germline		 Chr17:43092538 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567793330

4 SubmittersRCV000803204RCV001175762
NM_007294.4(BRCA1):c.2981G>T (p.Cys994Phe) SNV
Germline		 Chr17:43092550 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1238452758

3 SubmittersRCV000812262RCV002440758
NM_007294.4(BRCA1):c.2913T>G (p.His971Gln) SNV
Germline		 Chr17:43092618 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786203804

3 SubmittersRCV000791669RCV002440622
NM_007294.4(BRCA1):c.2909A>G (p.Lys970Arg) SNV
Germline		 Chr17:43092622 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_756559408

3 SubmittersRCV000801727RCV001800888RCV003158167
NM_007294.4(BRCA1):c.2881A>T (p.Asn961Tyr) SNV
Germline		 Chr17:43092650 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786203786

4 SubmittersRCV000811331RCV001184409
NM_007294.4(BRCA1):c.2851A>G (p.Arg951Gly) SNV
Germline		 Chr17:43092680 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1347533994

3 SubmittersRCV000804254RCV002440706
NM_007294.4(BRCA1):c.2823T>G (p.Asn941Lys) SNV
Germline		 Chr17:43092708 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1465630651

3 SubmittersRCV000818928RCV002434005
NM_007294.4(BRCA1):c.2560G>A (p.Ala854Thr) SNV
Germline		 Chr17:43092971 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597869238

2 SubmittersRCV000796518RCV003158150
NM_007294.4(BRCA1):c.2543A>G (p.Glu848Gly) SNV
Germline		 Chr17:43092988 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597869343

2 SubmittersRCV000800497RCV003158162
NM_007294.4(BRCA1):c.2479G>C (p.Glu827Gln) SNV
Germline		 Chr17:43093052 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597869731

3 SubmittersRCV000799604RCV002458451
NM_007294.4(BRCA1):c.2366G>A (p.Ser789Asn) SNV
Germline		 Chr17:43093165 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597870436

2 SubmittersRCV000816921RCV003158223
NM_007294.4(BRCA1):c.2324C>T (p.Thr775Ile) SNV
Germline		 Chr17:43093207 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567796086

2 SubmittersRCV000800306RCV003158161
NM_007294.4(BRCA1):c.2288C>A (p.Ser763Tyr) SNV
Germline		 Chr17:43093243 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660112

3 SubmittersRCV000812664RCV002442721
NM_007294.4(BRCA1):c.2279C>T (p.Thr760Ile) SNV
Germline		 Chr17:43093252 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1161074446

3 SubmittersRCV000815937RCV002442733
NM_007294.4(BRCA1):c.2242A>G (p.Lys748Glu) SNV
Germline		 Chr17:43093289 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_760810832

2 SubmittersRCV000824094RCV003158255
NM_007294.4(BRCA1):c.2116C>T (p.Pro706Ser) SNV
Germline		 Chr17:43093415 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597872071

5 SubmittersRCV000813482RCV000985380RCV002422807
NM_007294.4(BRCA1):c.2029G>A (p.Gly677Arg) SNV
Germline		 Chr17:43093502 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597872603

2 SubmittersRCV000795162RCV003158145
NM_007294.4(BRCA1):c.2023G>A (p.Ala675Thr) SNV
Germline		 Chr17:43093508 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597872640

2 SubmittersRCV000812793RCV003158208
NM_007294.4(BRCA1):c.2017G>C (p.Glu673Gln) SNV
Germline		 Chr17:43093514 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357391

2 SubmittersRCV000818443RCV003158227
NM_007294.4(BRCA1):c.1951A>G (p.Lys651Glu) SNV
Germline		 Chr17:43093580 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1555590804

4 SubmittersRCV000795174RCV002422700RCV003994120
NM_007294.4(BRCA1):c.1933T>C (p.Ser645Pro) SNV
Germline		 Chr17:43093598 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597873252

2 SubmittersRCV000810379RCV003158200
NM_007294.4(BRCA1):c.1865C>G (p.Ala622Gly) SNV
Germline		 Chr17:43093666 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_56039126

3 SubmittersRCV000818598RCV003158231
NM_007294.4(BRCA1):c.1796A>G (p.Asn599Ser) SNV
Germline		 Chr17:43093735 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1174268388

3 SubmittersRCV000808081RCV001013123
NM_007294.4(BRCA1):c.1774A>C (p.Ser592Arg) SNV
Germline		 Chr17:43093757 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597874233

2 SubmittersRCV000810380RCV003158201
NM_007294.4(BRCA1):c.1760T>C (p.Ile587Thr) SNV
Germline		 Chr17:43093771 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597874348

2 SubmittersRCV000802849RCV003158171
NM_007294.4(BRCA1):c.1759A>G (p.Ile587Val) SNV
Germline		 Chr17:43093772 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597874361

4 SubmittersRCV000819819RCV001178488
NM_007294.4(BRCA1):c.1696A>G (p.Lys566Glu) SNV
Germline		 Chr17:43093835 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597874665

3 SubmittersRCV000792371RCV001184608
NM_007294.4(BRCA1):c.1424G>A (p.Ser475Asn) SNV
Germline		 Chr17:43094107 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567799668

2 SubmittersRCV000799058RCV003158156
NM_007294.4(BRCA1):c.1423A>G (p.Ser475Gly) SNV
Germline		 Chr17:43094108 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1064794047

2 SubmittersRCV000818533RCV003158229
NM_007294.4(BRCA1):c.1418A>C (p.Asn473Thr) SNV
Germline		 Chr17:43094113 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357057

3 SubmittersRCV000809419RCV001011438
NM_007294.4(BRCA1):c.1345T>C (p.Ser449Pro) SNV
Germline		 Chr17:43094186 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597876653

2 SubmittersRCV000800234RCV003158160
NM_007294.4(BRCA1):c.1343A>C (p.His448Pro) SNV
Germline		 Chr17:43094188 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597876676

2 SubmittersRCV000815026RCV003158215
NM_007294.4(BRCA1):c.1204G>A (p.Glu402Lys) SNV
Germline		 Chr17:43094327 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_273897655

2 SubmittersRCV000805495RCV003158184
NM_007294.4(BRCA1):c.1193C>T (p.Ser398Leu) SNV
Germline		 Chr17:43094338 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357068

3 SubmittersRCV000807543RCV003158192
NM_007294.4(BRCA1):c.1190A>T (p.Asp397Val) SNV
Germline		 Chr17:43094341 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_747727601

4 SubmittersRCV000810514RCV003158202RCV003478511
NM_007294.4(BRCA1):c.1108G>A (p.Val370Ile) SNV
Germline		 Chr17:43094423 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567800850

2 SubmittersRCV000798126RCV003158154
NM_007294.4(BRCA1):c.1025T>A (p.Leu342Gln) SNV
Germline		 Chr17:43094506 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555592634

2 SubmittersRCV000809940RCV003158198
NM_007294.4(BRCA1):c.967G>A (p.Gly323Arg) SNV
Germline		 Chr17:43094564 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597878824

3 SubmittersRCV000797128RCV003158151
NM_007294.4(BRCA1):c.945G>C (p.Arg315Ser) SNV
Germline		 Chr17:43094586 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555592789

2 SubmittersRCV000802372RCV003158169
NM_007294.4(BRCA1):c.929A>C (p.Gln310Pro) SNV
Germline		 Chr17:43094602 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597879098

4 SubmittersRCV000811780RCV001185093
NM_007294.4(BRCA1):c.835C>T (p.His279Tyr) SNV
Germline		 Chr17:43094696 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1380919500

3 SubmittersRCV000815959RCV003158220RCV003493742
NM_007294.4(BRCA1):c.821G>A (p.Cys274Tyr) SNV
Germline		 Chr17:43094710 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597879808

3 SubmittersRCV000822340RCV002408991
NM_007294.4(BRCA1):c.809A>G (p.His270Arg) SNV
Germline		 Chr17:43094722 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597879864

4 SubmittersRCV000811099RCV001184407
NM_007294.4(BRCA1):c.765G>C (p.Glu255Asp) SNV
Germline		 Chr17:43094766 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_62625299

2 SubmittersRCV000820290RCV003158239
NM_007294.4(BRCA1):c.733G>C (p.Asp245His) SNV
Germline		 Chr17:43094798 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_147519994

2 SubmittersRCV000812819RCV003158209
NM_007294.4(BRCA1):c.707C>T (p.Thr236Ile) SNV
Germline		 Chr17:43094824 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80356990

3 SubmittersRCV000823389RCV001026013
NM_007294.4(BRCA1):c.235T>G (p.Phe79Val) SNV
Germline		 Chr17:43104934 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified		 Criteria Provided
Conflicting Classifications
 rs_1597898362

3 SubmittersRCV000819624RCV001076039RCV003317382
NM_007294.4(BRCA1):c.139T>C (p.Cys47Arg) SNV
Germline		 Chr17:43106529 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80357370

3 SubmittersRCV000807432RCV001077071
NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp) SNV
Germline		 Chr17:43115728 Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 rs_876658362

2 SubmittersRCV000802596RCV001077014
NM_007294.4(BRCA1):c.72T>G (p.Cys24Trp) SNV
Germline		 Chr17:43124025 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 rs_1597923232

2 SubmittersRCV000807975RCV001077757
NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly) SNV
Germline		 Chr17:43124027 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80357410

3 SubmittersRCV000804266RCV001077752RCV002360967
NM_007294.4(BRCA1):c.70T>A (p.Cys24Ser) SNV
Germline		 Chr17:43124027 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80357410

4 SubmittersRCV000791635RCV001077716RCV001284301RCV001026042
NM_007294.4(BRCA1):c.16C>T (p.Leu6Phe) SNV
Germline		 Chr17:43124081 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1315262605

5 SubmittersRCV000815437RCV001077646RCV002397692
NM_000059.4(BRCA2):c.7976+1G>T SNV
Germline		 Chr13:32362694 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_81002873

4 SubmittersRCV000823129RCV000995059RCV002415943
NM_000059.4(BRCA2):c.7007+2T>G SNV
Germline		 Chr13:32346898 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_886040937

2 SubmittersRCV000797902RCV001525988
NM_000059.4(BRCA2):c.476-10T>A SNV
Germline		 Chr13:32326232 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593886998

2 SubmittersRCV000808777RCV001177507
NM_007294.4(BRCA1):c.4484+5G>A SNV
Germline		 Chr17:43076483 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_886040910

2 SubmittersRCV000813015RCV000989883
NM_000059.4(BRCA2):c.-40+2T>C SNV
Germline		 Chr13:32315669 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1		 Criteria Provided
Conflicting Classifications
 rs_1593879845

3 SubmittersRCV000797145RCV002352335RCV003330094
NM_007294.4(BRCA1):c.213-2A>T SNV
Germline		 Chr17:43104958 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 rs_397508940

2 SubmittersRCV000820428RCV001076023
NM_000059.4(BRCA2):c.6841+1G>A SNV
Germline		 Chr13:32341197 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_773863936

2 SubmittersRCV000815333
NM_000059.4(BRCA2):c.7008-1G>C SNV
Germline		 Chr13:32354860 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_786204280

1 SubmittersRCV000795988
NM_007294.4(BRCA1):c.5074+2T>A SNV
Germline		 Chr17:43067606 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80358089

3 SubmittersRCV000798936RCV001072198RCV001784419
NM_007294.4(BRCA1):c.212+4T>G SNV
Germline		 Chr17:43106452 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_398122652

3 SubmittersRCV000817737RCV001014516RCV001072653
NM_000059.4(BRCA2):c.9784C>T (p.Gln3262Ter) SNV
Germline/somatic		 Chr13:32398297 Likely pathogenic Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Single Submitter
 rs_1566261010

2 SubmittersRCV000826157RCV003332267
NM_007294.4(BRCA1):c.4358-13A>G SNV
Germline		 Chr17:43076627 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567780008

3 SubmittersRCV000841693RCV001193797RCV003645116
NM_000059.4(BRCA2):c.6841+2T>G SNV
Germline		 Chr13:32341198 Likely pathogenic Breast carcinoma
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1593909960

3 SubmittersRCV000850288RCV001378758RCV003169081
NM_000059.4(BRCA2):c.2632G>C (p.Asp878His) SNV
Germline		 Chr13:32336987 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593897379

5 SubmittersRCV001005029RCV001805906RCV002064416
NM_007294.4(BRCA1):c.4224G>C (p.Gln1408His) SNV
Unknown		 Chr17:43082537 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1597848407

1 SubmittersRCV000855546
NM_014967.5(FAN1):c.149T>G (p.Met50Arg) SNV
Germline		 Chr15:30904812 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer
FAN1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_148404807

6 SubmittersRCV001374488RCV000879461RCV003492183RCV003908387
NM_002907.4(RECQL):c.2T>C (p.Met1Thr) SNV
Germline		 Chr12:21499569 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
RECQL-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 rs_146924988

6 SubmittersRCV000905173RCV001030660RCV003923055RCV004028556
NM_000051.4(ATM):c.8787-6C>T SNV
Germline		 Chr11:108354805 Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1591313765

4 SubmittersRCV000897587RCV002255572RCV002225765
NM_000059.4(BRCA2):c.9257-11T>G SNV
Germline		 Chr13:32394678 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1593199545

2 SubmittersRCV001492632RCV003232161
NM_007294.4(BRCA1):c.4097-11T>G SNV
Germline		 Chr17:43091043 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358072

3 SubmittersRCV001193195RCV001482383RCV002259054
NM_000059.4(BRCA2):c.1662T>C (p.Cys554=) SNV
Germline		 Chr13:32333140 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358451

3 SubmittersRCV000942458RCV001401547RCV002400080
NM_000059.4(BRCA2):c.4035T>C (p.Asp1345=) SNV
Germline		 Chr13:32338390 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Inherited breast cancer and ovarian cancer		 Criteria Provided
Conflicting Classifications
 rs_1304787573

3 SubmittersRCV000943980RCV004004329RCV004584145
NM_000059.4(BRCA2):c.9753G>A (p.Lys3251=) SNV
Germline		 Chr13:32398266 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_730881576

3 SubmittersRCV001422060RCV003169390RCV004003275
NM_007294.4(BRCA1):c.2619A>T (p.Ser873=) SNV
Germline		 Chr17:43092912 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome Criteria Provided
Conflicting Classifications
 rs_1597868763

2 SubmittersRCV000928719
NM_000059.4(BRCA2):c.8754+18C>T SNV
Germline		 Chr13:32376809 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_768949172

2 SubmittersRCV001406482RCV003317401
NM_007294.4(BRCA1):c.5382G>A (p.Glu1794=) SNV
Germline		 Chr17:43049145 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_397509275

5 SubmittersRCV001073148RCV001024010RCV000978428RCV001088978
NM_000059.4(BRCA2):c.8954-6A>G SNV
Germline		 Chr13:32379744 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593937220

2 SubmittersRCV001176574RCV001423011
NM_000059.4(BRCA2):c.317-17T>A SNV
Germline		 Chr13:32325059 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593885822

4 SubmittersRCV000975297RCV001280618RCV001189537
NM_000059.4(BRCA2):c.939T>C (p.Ser313=) SNV
Germline		 Chr13:32332417 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1593891536

5 SubmittersRCV000985627RCV001184395RCV001192452RCV001430626RCV004004411
NM_000059.4(BRCA2):c.1071A>G (p.Glu357=) SNV
Germline		 Chr13:32332549 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593891870

2 SubmittersRCV000985460RCV003645121
NM_000059.4(BRCA2):c.2474A>G (p.Asn825Ser) SNV
Germline		 Chr13:32336829 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1593897016

5 SubmittersRCV000985481RCV001365273RCV003158264RCV003317405
NM_000059.4(BRCA2):c.2477A>C (p.Glu826Ala) SNV
Germline		 Chr13:32336832 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1214763097

4 SubmittersRCV000985482RCV001858621RCV002454231
NM_000059.4(BRCA2):c.2569C>G (p.Leu857Val) SNV
Germline		 Chr13:32336924 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_767596766

4 SubmittersRCV000985483RCV001054996RCV003158265
NM_000059.4(BRCA2):c.2635T>C (p.Ser879Pro) SNV
Germline		 Chr13:32336990 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_753266636

3 SubmittersRCV000985485RCV002549648RCV003158266
NM_000059.4(BRCA2):c.3166C>G (p.Gln1056Glu) SNV
Germline		 Chr13:32337521 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_79728106

4 SubmittersRCV000985494RCV001858622RCV002320198
NM_000059.4(BRCA2):c.3650G>A (p.Arg1217Lys) SNV
Germline		 Chr13:32338005 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1306577496

4 SubmittersRCV000985509RCV001020805RCV001359613
NM_000059.4(BRCA2):c.4225T>G (p.Leu1409Val) SNV
Germline		 Chr13:32338580 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901749

3 SubmittersRCV000985518RCV002549649RCV003158269
NM_000059.4(BRCA2):c.5207A>G (p.Gln1736Arg) SNV
Germline		 Chr13:32339562 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1183489363

7 SubmittersRCV000985539RCV000989038RCV001041172RCV001180721
NM_000059.4(BRCA2):c.5491A>G (p.Ile1831Val) SNV
Germline		 Chr13:32339846 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593905631

4 SubmittersRCV000985547RCV001869329RCV003158270
NM_000059.4(BRCA2):c.5585T>G (p.Val1862Gly) SNV
Germline		 Chr13:32339940 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593905868

4 SubmittersRCV000985548RCV001024299RCV001858624
NM_000059.4(BRCA2):c.5807T>C (p.Met1936Thr) SNV
Germline		 Chr13:32340162 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1376128381

6 SubmittersRCV000985550RCV001024558RCV001243303RCV004004409
NM_000059.4(BRCA2):c.6202A>G (p.Ile2068Val) SNV
Germline		 Chr13:32340557 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_755523944

3 SubmittersRCV000985561RCV002550591RCV003158271
NM_007294.4(BRCA1):c.5133A>G (p.Lys1711=) SNV
Germline		 Chr17:43063893 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597820025

4 SubmittersRCV000985430RCV001072315RCV002067566RCV002337038
NM_007294.4(BRCA1):c.5091T>G (p.Cys1697Trp) SNV
Germline		 Chr17:43063935 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597820426

4 SubmittersRCV000985428RCV001077567RCV003530120
NM_007294.4(BRCA1):c.4393A>G (p.Ile1465Val) SNV
Germline		 Chr17:43076579 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1567779778

6 SubmittersRCV000985415RCV001060438RCV001182302RCV001819691RCV004004407
NM_007294.4(BRCA1):c.4075C>A (p.Gln1359Lys) SNV
Germline		 Chr17:43091456 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357456

6 SubmittersRCV000985412RCV001042582RCV001193115RCV003158261
NM_007294.4(BRCA1):c.3244G>T (p.Ala1082Ser) SNV
Germline		 Chr17:43092287 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_779459487

3 SubmittersRCV000985397RCV001052052RCV003158259
NM_007294.4(BRCA1):c.2936G>T (p.Arg979Leu) SNV
Germline		 Chr17:43092595 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80356985

3 SubmittersRCV000985395RCV003158258RCV003645119
NM_007294.4(BRCA1):c.2812C>T (p.Pro938Ser) SNV
Germline		 Chr17:43092719 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597867531

5 SubmittersRCV000985392RCV001122179RCV001016661RCV001297776
NM_007294.4(BRCA1):c.1766G>T (p.Ser589Ile) SNV
Germline		 Chr17:43093765 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1567798335

7 SubmittersRCV000985375RCV001013036RCV001175507RCV001869328RCV004004406
NM_007294.4(BRCA1):c.976G>C (p.Glu326Gln) SNV
Germline		 Chr17:43094555 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_773433679

9 SubmittersRCV000985453RCV001052638RCV001824909RCV002382218RCV003229606
NM_007294.4(BRCA1):c.894T>C (p.Asn298=) SNV
Germline		 Chr17:43094637 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597879373

2 SubmittersRCV000985451RCV001440103
NM_007294.4(BRCA1):c.817C>T (p.Pro273Ser) SNV
Germline		 Chr17:43094714 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1597879824

7 SubmittersRCV000985450RCV001858620RCV002427437RCV004004408
NM_007294.4(BRCA1):c.207C>T (p.Thr69=) SNV
Germline		 Chr17:43106461 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567812175

4 SubmittersRCV000985378RCV001077760RCV002549647RCV004030099
NM_007294.4(BRCA1):c.170G>C (p.Gly57Ala) SNV
Germline		 Chr17:43106498 Conflicting classifications of pathogenicity Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597900455

4 SubmittersRCV000985372RCV001076703RCV001215723RCV002400157
NM_007294.4(BRCA1):c.4484+3A>C SNV
Germline		 Chr17:43076485 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597838973

2 SubmittersRCV000985418RCV003645120
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu) SNV
Germline		 Chr9:95117322 Conflicting classifications of pathogenicity Fanconi anemia complementation group A
Fanconi anemia
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1588070592

5 SubmittersRCV000988208RCV001064625RCV001030699RCV003160115
NM_000059.4(BRCA2):c.4129A>G (p.Asn1377Asp) SNV
Germline		 Chr13:32338484 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901487

3 SubmittersRCV000989025RCV001208386RCV003158274
NM_000059.4(BRCA2):c.4973A>G (p.Gln1658Arg) SNV
Germline		 Chr13:32339328 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593903991

3 SubmittersRCV000989033RCV001858699RCV003158276
NM_000059.4(BRCA2):c.5206C>G (p.Gln1736Glu) SNV
Germline		 Chr13:32339561 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_886037802

4 SubmittersRCV000989037RCV001237147RCV002337047
NM_000059.4(BRCA2):c.6272G>A (p.Ser2091Asn) SNV
Germline		 Chr13:32340627 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060502389

3 SubmittersRCV000989049RCV001858700RCV003158279
NM_000059.4(BRCA2):c.7977-7C>T SNV
Germline		 Chr13:32363172 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507948

2 SubmittersRCV000989068RCV002067582
NM_002878.4(RAD51D):c.263+1551G>T SNV
Germline		 Chr17:35116950 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_780006577

2 SubmittersRCV000989837RCV001030593
NM_007294.4(BRCA1):c.5277+7C>T SNV
Germline		 Chr17:43057045 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597810359

3 SubmittersRCV000989868RCV001397856
NM_007294.4(BRCA1):c.1350A>T (p.Lys450Asn) SNV
Germline		 Chr17:43094181 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597876640

4 SubmittersRCV000989904RCV003158282RCV003530121
NM_000059.4(BRCA2):c.622G>C (p.Val208Leu) SNV
Germline		 Chr13:32326604 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 rs_1593887544

3 SubmittersRCV000995054RCV001295693RCV003607364
NM_000059.4(BRCA2):c.2674T>C (p.Phe892Leu) SNV
Germline		 Chr13:32337029 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593897508

3 SubmittersRCV001002149RCV001860510RCV003158285
NM_007294.4(BRCA1):c.3358G>C (p.Val1120Leu) SNV
Germline		 Chr17:43092173 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_748894760

3 SubmittersRCV001002496RCV003158286RCV003530123
NM_000059.4(BRCA2):c.942A>G (p.Lys314=) SNV
Germline		 Chr13:32332420 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1384322636

4 SubmittersRCV001019336RCV001109311RCV001114950RCV002549502
NM_000059.4(BRCA2):c.954A>C (p.Lys318Asn) SNV
Germline		 Chr13:32332432 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593891571

3 SubmittersRCV001019472RCV001317883
NM_000059.4(BRCA2):c.1000C>A (p.His334Asn) SNV
Germline		 Chr13:32332478 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593891725

3 SubmittersRCV001009656RCV001860609
NM_000059.4(BRCA2):c.1114A>G (p.Asn372Asp) SNV
Germline		 Chr13:32332592 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_144848

3 SubmittersRCV001017368RCV001319297
NM_000059.4(BRCA2):c.1133G>A (p.Ser378Asn) SNV
Germline		 Chr13:32332611 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1593892009

5 SubmittersRCV001009962RCV001207859RCV003321771RCV004004480
NM_000059.4(BRCA2):c.1185G>T (p.Trp395Cys) SNV
Germline		 Chr13:32332663 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_886039315

3 SubmittersRCV001010213RCV001341557
NM_000059.4(BRCA2):c.1220A>G (p.Gln407Arg) SNV
Germline		 Chr13:32332698 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1593892264

5 SubmittersRCV001010386RCV001860635RCV002466600
NM_000059.4(BRCA2):c.1234C>A (p.Pro412Thr) SNV
Germline		 Chr13:32332712 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1555281787

4 SubmittersRCV001010471RCV003645122RCV004004486
NM_000059.4(BRCA2):c.1298A>G (p.Asn433Ser) SNV
Germline		 Chr13:32332776 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593892451

3 SubmittersRCV001010821RCV001373829
NM_000059.4(BRCA2):c.1328A>G (p.Glu443Gly) SNV
Germline		 Chr13:32332806 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593892542

3 SubmittersRCV001011048RCV002551737
NM_000059.4(BRCA2):c.1405G>A (p.Asp469Asn) SNV
Germline		 Chr13:32332883 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_398122727

4 SubmittersRCV001011409RCV001071150RCV003327476
NM_000059.4(BRCA2):c.1435G>A (p.Asp479Asn) SNV
Germline		 Chr13:32332913 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593892861

3 SubmittersRCV001011565RCV001210067
NM_000059.4(BRCA2):c.1454A>G (p.Lys485Arg) SNV
Germline		 Chr13:32332932 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593892915

4 SubmittersRCV001011663RCV003117690RCV003769446
NM_000059.4(BRCA2):c.1505A>G (p.Lys502Arg) SNV
Germline		 Chr13:32332983 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_990094915

3 SubmittersRCV001011941RCV001037998
NM_000059.4(BRCA2):c.1522A>G (p.Ile508Val) SNV
Germline		 Chr13:32333000 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593893116

3 SubmittersRCV001011999RCV002550772
NM_000059.4(BRCA2):c.1524A>G (p.Ile508Met) SNV
Germline		 Chr13:32333002 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593893119

3 SubmittersRCV001012007RCV001233557
NM_000059.4(BRCA2):c.1579C>T (p.Pro527Ser) SNV
Germline		 Chr13:32333057 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_758025325

4 SubmittersRCV001012273RCV001345073
NM_000059.4(BRCA2):c.1604C>T (p.Ala535Val) SNV
Germline		 Chr13:32333082 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593893344

3 SubmittersRCV001012345RCV002550776
NM_000059.4(BRCA2):c.1764T>G (p.Asn588Lys) SNV
Germline		 Chr13:32333242 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1235065739

3 SubmittersRCV001013026RCV001860732
NM_000059.4(BRCA2):c.1775A>T (p.Tyr592Phe) SNV
Germline		 Chr13:32333253 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_772156559

3 SubmittersRCV001013100RCV001067410
NM_000059.4(BRCA2):c.1783C>A (p.His595Asn) SNV
Germline		 Chr13:32333261 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_587781906

4 SubmittersRCV001013139RCV001873242RCV004004523
NM_000059.4(BRCA2):c.1847G>A (p.Cys616Tyr) SNV
Germline		 Chr13:32333325 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1230674723

3 SubmittersRCV001013399RCV001056360
NM_000059.4(BRCA2):c.1847G>C (p.Cys616Ser) SNV
Germline		 Chr13:32333325 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1230674723

3 SubmittersRCV001013400RCV001860738
NM_000059.4(BRCA2):c.1905T>A (p.Asp635Glu) SNV
Germline		 Chr13:32333383 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282154

4 SubmittersRCV001013576RCV001326443
NM_000059.4(BRCA2):c.1939T>A (p.Cys647Ser) SNV
Germline		 Chr13:32336294 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282367

3 SubmittersRCV001013753RCV003645127
NM_000059.4(BRCA2):c.1952A>G (p.Asp651Gly) SNV
Germline		 Chr13:32336307 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_747387987

3 SubmittersRCV001013819RCV001873252
NM_000059.4(BRCA2):c.1964C>A (p.Pro655Gln) SNV
Germline		 Chr13:32336319 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_28897712

3 SubmittersRCV001013884RCV001230113
NM_000059.4(BRCA2):c.1991G>A (p.Gly664Glu) SNV
Germline		 Chr13:32336346 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1555282391

5 SubmittersRCV001013974RCV001320186RCV001766833RCV003483753
NM_000059.4(BRCA2):c.2021A>G (p.Glu674Gly) SNV
Germline		 Chr13:32336376 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_56311811

3 SubmittersRCV001014119RCV001217478
NM_000059.4(BRCA2):c.2060A>G (p.Asp687Gly) SNV
Germline		 Chr13:32336415 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593896033

3 SubmittersRCV001014275RCV003530125
NM_000059.4(BRCA2):c.2087A>G (p.Glu696Gly) SNV
Germline		 Chr13:32336442 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593896068

3 SubmittersRCV001014383RCV003645128
NM_000059.4(BRCA2):c.2123C>A (p.Ser708Tyr) SNV
Germline		 Chr13:32336478 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593896146

4 SubmittersRCV001014526RCV002550795
NM_000059.4(BRCA2):c.2159A>T (p.Asp720Val) SNV
Germline		 Chr13:32336514 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593896239

3 SubmittersRCV001014623RCV001321973
NM_000059.4(BRCA2):c.2273G>A (p.Ser758Asn) SNV
Germline		 Chr13:32336628 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1593896511

5 SubmittersRCV001014863RCV001233111RCV003483754
NM_000059.4(BRCA2):c.2306T>G (p.Leu769Arg) SNV
Germline		 Chr13:32336661 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282603

3 SubmittersRCV001015147RCV002304224
NM_000059.4(BRCA2):c.2308A>G (p.Ile770Val) SNV
Germline		 Chr13:32336663 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1593896607

4 SubmittersRCV001015152RCV001217998RCV001201235
NM_000059.4(BRCA2):c.2458G>C (p.Asp820His) SNV
Germline		 Chr13:32336813 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593896974

3 SubmittersRCV001015603RCV001860799
NM_000059.4(BRCA2):c.2477A>G (p.Glu826Gly) SNV
Germline		 Chr13:32336832 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1214763097

3 SubmittersRCV001015654RCV003645132
NM_000059.4(BRCA2):c.2594A>G (p.Glu865Gly) SNV
Germline		 Chr13:32336949 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1593897302

4 SubmittersRCV001015891RCV001234291RCV004004553
NM_000059.4(BRCA2):c.2742G>C (p.Leu914Phe) SNV
Germline		 Chr13:32337097 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_759767392

5 SubmittersRCV001016466RCV001284080RCV001860830
NM_000059.4(BRCA2):c.2880G>C (p.Lys960Asn) SNV
Germline		 Chr13:32337235 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_55891436

3 SubmittersRCV001016850RCV001308894
NM_000059.4(BRCA2):c.2975A>T (p.Lys992Ile) SNV
Germline		 Chr13:32337330 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1370517493

3 SubmittersRCV001017734RCV001860873
NM_000059.4(BRCA2):c.3022A>G (p.Ser1008Gly) SNV
Germline		 Chr13:32337377 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1386536852

3 SubmittersRCV001018122RCV001860894
NM_000059.4(BRCA2):c.3040A>G (p.Asn1014Asp) SNV
Germline		 Chr13:32337395 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1390034820

4 SubmittersRCV001018252RCV002298831
NM_000059.4(BRCA2):c.3042T>G (p.Asn1014Lys) SNV
Germline		 Chr13:32337397 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593898407

4 SubmittersRCV001018287RCV001860901
NM_000059.4(BRCA2):c.3235T>G (p.Ser1079Ala) SNV
Germline		 Chr13:32337590 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593898984

3 SubmittersRCV001019345RCV002551817
NM_000059.4(BRCA2):c.3350T>C (p.Ile1117Thr) SNV
Germline		 Chr13:32337705 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_558973276

3 SubmittersRCV001020061RCV001216809
NM_000059.4(BRCA2):c.3375T>A (p.Phe1125Leu) SNV
Germline		 Chr13:32337730 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593899361

3 SubmittersRCV001020130RCV001860973
NM_000059.4(BRCA2):c.3500T>C (p.Ile1167Thr) SNV
Germline		 Chr13:32337855 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593899750

3 SubmittersRCV001020469RCV001042565
NM_000059.4(BRCA2):c.3501A>G (p.Ile1167Met) SNV
Germline		 Chr13:32337856 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593899752

3 SubmittersRCV001020470RCV003645141
NM_000059.4(BRCA2):c.3719T>C (p.Leu1240Pro) SNV
Germline		 Chr13:32338074 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593900306

5 SubmittersRCV001020966RCV001800932RCV003530130
NM_000059.4(BRCA2):c.3764T>G (p.Val1255Gly) SNV
Germline		 Chr13:32338119 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593900450

3 SubmittersRCV001021084RCV001213355
NM_000059.4(BRCA2):c.3785C>A (p.Ser1262Ter) SNV
Germline		 Chr13:32338140 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80358620

4 SubmittersRCV001021129RCV001355500RCV002551835
NM_000059.4(BRCA2):c.3794G>A (p.Cys1265Tyr) SNV
Germline		 Chr13:32338149 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507315

3 SubmittersRCV001021158RCV001246894
NM_000059.4(BRCA2):c.3974C>T (p.Thr1325Ile) SNV
Germline		 Chr13:32338329 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901084

3 SubmittersRCV001021565RCV003645143
NM_000059.4(BRCA2):c.4128A>T (p.Gly1376=) SNV
Germline		 Chr13:32338483 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901482

2 SubmittersRCV001021920RCV001862198
NM_000059.4(BRCA2):c.4169T>G (p.Leu1390Trp) SNV
Germline		 Chr13:32338524 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901612

4 SubmittersRCV001021979RCV002549546
NM_000059.4(BRCA2):c.4171G>A (p.Glu1391Lys) SNV
Germline		 Chr13:32338526 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1593901620

4 SubmittersRCV001021986RCV001862199RCV003478646
NM_000059.4(BRCA2):c.4229C>A (p.Thr1410Asn) SNV
Germline		 Chr13:32338584 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1593901756

4 SubmittersRCV001022091RCV001309899RCV004004623
NM_000059.4(BRCA2):c.4315G>T (p.Ala1439Ser) SNV
Germline		 Chr13:32338670 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358666

3 SubmittersRCV001022280RCV003645144
NM_000059.4(BRCA2):c.4382C>T (p.Ser1461Phe) SNV
Germline		 Chr13:32338737 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593902185

4 SubmittersRCV001022393RCV001873355
NM_000059.4(BRCA2):c.4480A>G (p.Ser1494Gly) SNV
Germline		 Chr13:32338835 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1593902515

5 SubmittersRCV001022552RCV001873361RCV002281148
NM_000059.4(BRCA2):c.4498G>A (p.Gly1500Arg) SNV
Germline		 Chr13:32338853 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_765328255

3 SubmittersRCV001022577RCV001300026
NM_000059.4(BRCA2):c.4502A>G (p.Asn1501Ser) SNV
Germline		 Chr13:32338857 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_545444016

4 SubmittersRCV001022599RCV001069791
NM_000059.4(BRCA2):c.4520A>G (p.Gln1507Arg) SNV
Germline		 Chr13:32338875 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1473942366

4 SubmittersRCV001022631RCV002479218RCV002550002
NM_000059.4(BRCA2):c.4531G>T (p.Glu1511Ter) SNV
Germline		 Chr13:32338886 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_376338226

3 SubmittersRCV001022652RCV003318656RCV003530131
NM_000059.4(BRCA2):c.4532A>G (p.Glu1511Gly) SNV
Germline		 Chr13:32338887 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593902650

3 SubmittersRCV001022653RCV003530132
NM_000059.4(BRCA2):c.4534C>A (p.Arg1512Ser) SNV
Germline		 Chr13:32338889 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358684

3 SubmittersRCV001022658RCV002551858
NM_000059.4(BRCA2):c.4726C>G (p.Leu1576Val) SNV
Germline		 Chr13:32339081 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_758051329

3 SubmittersRCV001022957RCV002298841
NM_000059.4(BRCA2):c.4772G>A (p.Cys1591Tyr) SNV
Germline		 Chr13:32339127 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283933

4 SubmittersRCV001038885RCV001023021
NM_000059.4(BRCA2):c.4790C>T (p.Ser1597Phe) SNV
Germline		 Chr13:32339145 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660146

4 SubmittersRCV001023050RCV001862247
NM_000059.4(BRCA2):c.4858T>G (p.Leu1620Val) SNV
Germline		 Chr13:32339213 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_528771743

4 SubmittersRCV001023156RCV001862252
NM_000059.4(BRCA2):c.4895G>C (p.Ser1632Thr) SNV
Germline		 Chr13:32339250 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593903713

4 SubmittersRCV001023211RCV001862256
NM_000059.4(BRCA2):c.4900T>A (p.Phe1634Ile) SNV
Germline		 Chr13:32339255 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283982

4 SubmittersRCV001023238RCV001356062RCV001327896
NM_000059.4(BRCA2):c.4915G>T (p.Val1639Leu) SNV
Germline		 Chr13:32339270 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358716

3 SubmittersRCV001023257RCV001308598
NM_000059.4(BRCA2):c.4927G>T (p.Val1643Leu) SNV
Germline		 Chr13:32339282 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_879254182

3 SubmittersRCV001023273RCV001304818
NM_000059.4(BRCA2):c.5027G>T (p.Ser1676Ile) SNV
Germline		 Chr13:32339382 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660686

3 SubmittersRCV001023441RCV001301918
NM_000059.4(BRCA2):c.5042T>G (p.Val1681Gly) SNV
Germline		 Chr13:32339397 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593904227

3 SubmittersRCV001023463RCV003530134
NM_000059.4(BRCA2):c.5083G>A (p.Glu1695Lys) SNV
Germline		 Chr13:32339438 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_938190132

3 SubmittersRCV001023508RCV003530135
NM_000059.4(BRCA2):c.5210A>G (p.Asp1737Gly) SNV
Germline		 Chr13:32339565 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_587778120

3 SubmittersRCV001023736RCV001067560
NM_000059.4(BRCA2):c.5286T>G (p.Tyr1762Ter) SNV
Germline		 Chr13:32339641 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80358754

4 SubmittersRCV001023865RCV001063211RCV001355845
NM_000059.4(BRCA2):c.5371A>G (p.Ile1791Val) SNV
Germline		 Chr13:32339726 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1214903860

3 SubmittersRCV001023990RCV003645148
NM_000059.4(BRCA2):c.5377A>C (p.Asn1793His) SNV
Germline		 Chr13:32339732 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1593905298

5 SubmittersRCV001023994RCV001222464RCV004004644
NM_000059.4(BRCA2):c.5450C>G (p.Ser1817Cys) SNV
Germline		 Chr13:32339805 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_759741090

3 SubmittersRCV001024130RCV001339958
NM_000059.4(BRCA2):c.5534G>A (p.Arg1845Lys) SNV
Germline		 Chr13:32339889 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593905700

5 SubmittersRCV001024241RCV002250717RCV003645150
NM_000059.4(BRCA2):c.5546G>A (p.Gly1849Asp) SNV
Germline		 Chr13:32339901 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_764527357

5 SubmittersRCV001024258RCV001055240
NM_000059.4(BRCA2):c.5561T>C (p.Val1854Ala) SNV
Germline		 Chr13:32339916 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1371364232

4 SubmittersRCV001024277RCV001862282RCV004004646
NM_000059.4(BRCA2):c.5637G>T (p.Glu1879Asp) SNV
Germline		 Chr13:32339992 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1057521044

4 SubmittersRCV001024347RCV001593189RCV002550897
NM_000059.4(BRCA2):c.5639A>G (p.Asn1880Ser) SNV
Germline		 Chr13:32339994 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1302337975

3 SubmittersRCV001024349RCV001364198
NM_000059.4(BRCA2):c.5713C>A (p.His1905Asn) SNV
Germline		 Chr13:32340068 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593906278

3 SubmittersRCV001024441RCV003530139
NM_000059.4(BRCA2):c.5775G>C (p.Gln1925His) SNV
Germline		 Chr13:32340130 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1593906484

4 SubmittersRCV001024518RCV001873382RCV004528340
NM_000059.4(BRCA2):c.5821A>G (p.Lys1941Glu) SNV
Germline		 Chr13:32340176 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1555284411

5 SubmittersRCV001024574RCV001420903RCV002550898RCV003478654
NM_000059.4(BRCA2):c.5839C>G (p.Pro1947Ala) SNV
Germline		 Chr13:32340194 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_80358812

6 SubmittersRCV001024585RCV001065066RCV001193317RCV004030854
NM_000059.4(BRCA2):c.5887G>A (p.Gly1963Arg) SNV
Germline		 Chr13:32340242 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593906819

3 SubmittersRCV001024640RCV002552387
NM_000059.4(BRCA2):c.6007A>G (p.Ile2003Val) SNV
Germline		 Chr13:32340362 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593907199

4 SubmittersRCV001024799RCV001323629
NM_000059.4(BRCA2):c.6158C>G (p.Ser2053Cys) SNV
Germline		 Chr13:32340513 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555284574

3 SubmittersRCV001024957RCV001862308
NM_000059.4(BRCA2):c.6277C>T (p.His2093Tyr) SNV
Germline		 Chr13:32340632 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1593908107

4 SubmittersRCV001025068RCV001214457RCV001811624
NM_000059.4(BRCA2):c.6328G>C (p.Asp2110His) SNV
Germline		 Chr13:32340683 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593908267

5 SubmittersRCV001025138RCV001779103RCV002551918
NM_000059.4(BRCA2):c.6329A>G (p.Asp2110Gly) SNV
Germline		 Chr13:32340684 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358873

3 SubmittersRCV001025139RCV003645152
NM_000059.4(BRCA2):c.6337A>C (p.Asn2113His) SNV
Germline		 Chr13:32340692 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555284644

3 SubmittersRCV001025147RCV001316257
NM_000059.4(BRCA2):c.6365T>C (p.Met2122Thr) SNV
Germline		 Chr13:32340720 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566234419

3 SubmittersRCV001025181RCV001873391
NM_000059.4(BRCA2):c.6372A>C (p.Lys2124Asn) SNV
Germline		 Chr13:32340727 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593908412

3 SubmittersRCV001025186RCV001045500
NM_000059.4(BRCA2):c.6545A>G (p.Lys2182Arg) SNV
Germline		 Chr13:32340900 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593909056

3 SubmittersRCV001025391RCV002550910
NM_000059.4(BRCA2):c.6551A>G (p.Gln2184Arg) SNV
Germline		 Chr13:32340906 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1216313735

3 SubmittersRCV001025403RCV003645153
NM_000059.4(BRCA2):c.6638C>G (p.Ser2213Cys) SNV
Germline		 Chr13:32340993 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_75925841

4 SubmittersRCV001025483RCV002550913RCV003493778
NM_000059.4(BRCA2):c.6649A>T (p.Lys2217Ter) SNV
Germline		 Chr13:32341004 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555284779

5 SubmittersRCV001025495RCV001264523RCV003160183
NM_000059.4(BRCA2):c.6725A>G (p.Asp2242Gly) SNV
Germline		 Chr13:32341080 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593909627

3 SubmittersRCV001025579RCV001862332
NM_000059.4(BRCA2):c.7043A>G (p.Asn2348Ser) SNV
Germline		 Chr13:32354896 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_747817752

3 SubmittersRCV001025964RCV001216628RCV003493780
NM_000059.4(BRCA2):c.7388A>G (p.Asn2463Ser) SNV
Germline		 Chr13:32355241 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593918551

2 SubmittersRCV001026358RCV003645155
NM_000059.4(BRCA2):c.7390C>T (p.Gln2464Ter) SNV
Germline		 Chr13:32355243 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_572945276

2 SubmittersRCV001026368RCV001380612
NM_000059.4(BRCA2):c.7855T>C (p.Trp2619Arg) SNV
Germline		 Chr13:32362572 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593923998

3 SubmittersRCV001026877RCV001340662
NM_000059.4(BRCA2):c.8303T>C (p.Leu2768Pro) SNV
Germline		 Chr13:32363505 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782732

3 SubmittersRCV001027388RCV001341364
NM_000059.4(BRCA2):c.8488T>A (p.Trp2830Arg) SNV
Germline		 Chr13:32370956 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1304085334

2 SubmittersRCV001017886RCV001305408
NM_000059.4(BRCA2):c.8634A>G (p.Glu2878=) SNV
Germline		 Chr13:32376671 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593934742

2 SubmittersRCV001018109RCV003645135
NM_000059.4(BRCA2):c.8641A>G (p.Thr2881Ala) SNV
Germline		 Chr13:32376678 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1593934753

4 SubmittersRCV001018116RCV001772193RCV002549472RCV004004574
NM_000059.4(BRCA2):c.8672C>T (p.Thr2891Ile) SNV
Germline		 Chr13:32376709 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1401510742

3 SubmittersRCV001018152RCV002551807RCV004030408
NM_000059.4(BRCA2):c.9620T>C (p.Ile3207Thr) SNV
Germline		 Chr13:32397016 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_876658942

3 SubmittersRCV001019576RCV002549507
NM_000059.4(BRCA2):c.9692C>A (p.Ser3231Ter) SNV
Germline		 Chr13:32398205 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1593201677

3 SubmittersRCV001019628RCV002549508RCV003485676
NM_000059.4(BRCA2):c.10072G>A (p.Gly3358Arg) SNV
Germline		 Chr13:32398585 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593202253

3 SubmittersRCV001016972RCV002290532RCV003645133
NM_024675.4(PALB2):c.1451T>G (p.Leu484Ter) SNV
Germline		 Chr16:23635095 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_786203714

2 SubmittersRCV001011656RCV001030651
NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter) SNV
Germline		 Chr16:23635162 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597096243

4 SubmittersRCV001011273RCV001030221RCV001030652RCV003160174
NM_002878.4(RAD51D):c.385C>T (p.Gln129Ter) SNV
Germline		 Chr17:35107083 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 4		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597862732

3 SubmittersRCV001021308RCV001030590RCV003642942
NM_007294.4(BRCA1):c.5324T>C (p.Met1775Thr) SNV
Germline		 Chr17:43051071 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_41293463

3 SubmittersRCV001023929RCV001077186RCV003530138
NM_007294.4(BRCA1):c.5023A>T (p.Thr1675Ser) SNV
Germline		 Chr17:43067659 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_774452090

6 SubmittersRCV001023439RCV001076255RCV001315220RCV003148913
NM_007294.4(BRCA1):c.4034A>T (p.Glu1345Val) SNV
Germline		 Chr17:43091497 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_745638837

4 SubmittersRCV001021722RCV001862193
NM_007294.4(BRCA1):c.3971T>C (p.Met1324Thr) SNV
Germline		 Chr17:43091560 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597860147

3 SubmittersRCV001021560RCV002550869
NM_007294.4(BRCA1):c.3892T>A (p.Ser1298Thr) SNV
Germline		 Chr17:43091639 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597860615

3 SubmittersRCV001021375RCV002295322
NM_007294.4(BRCA1):c.3792G>C (p.Lys1264Asn) SNV
Germline		 Chr17:43091739 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_894781955

4 SubmittersRCV001021154RCV003645142RCV003987764
NM_007294.4(BRCA1):c.3782T>A (p.Leu1261Ter) SNV
Germline		 Chr17:43091749 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_397507219

2 SubmittersRCV001021125RCV001861006
NM_007294.4(BRCA1):c.3541G>T (p.Val1181Phe) SNV
Germline		 Chr17:43091990 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_56336919

4 SubmittersRCV001020561RCV001212287RCV003230620
NM_007294.4(BRCA1):c.3523G>A (p.Ala1175Thr) SNV
Germline		 Chr17:43092008 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597863144

3 SubmittersRCV001020521RCV001068024
NM_007294.4(BRCA1):c.3481G>A (p.Glu1161Lys) SNV
Germline		 Chr17:43092050 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_786203438

5 SubmittersRCV001020406RCV001297039RCV001283897RCV004004602
NM_007294.4(BRCA1):c.3406C>T (p.Pro1136Ser) SNV
Germline		 Chr17:43092125 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_431825395

5 SubmittersRCV001020222RCV001860975RCV003233926
NM_007294.4(BRCA1):c.3182T>C (p.Ile1061Thr) SNV
Germline		 Chr17:43092349 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567792602

3 SubmittersRCV001019041RCV002551815
NM_007294.4(BRCA1):c.3149G>C (p.Ser1050Thr) SNV
Germline		 Chr17:43092382 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597865440

3 SubmittersRCV001018812RCV001873312
NM_007294.4(BRCA1):c.3008T>C (p.Phe1003Ser) SNV
Germline		 Chr17:43092523 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1344422504

3 SubmittersRCV001018016RCV001057205
NM_007294.4(BRCA1):c.3001G>A (p.Glu1001Lys) SNV
Germline		 Chr17:43092530 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_886038007

4 SubmittersRCV001017993RCV001192474RCV003530126
NM_007294.4(BRCA1):c.2990A>G (p.Asn997Ser) SNV
Germline		 Chr17:43092541 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597866298

3 SubmittersRCV001017808RCV001228594
NM_007294.4(BRCA1):c.2950T>C (p.Phe984Leu) SNV
Germline		 Chr17:43092581 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597866542

3 SubmittersRCV001017632RCV001042215
NM_007294.4(BRCA1):c.2900C>T (p.Thr967Ile) SNV
Germline		 Chr17:43092631 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1249532992

4 SubmittersRCV001016916RCV002549444
NM_007294.4(BRCA1):c.2836A>G (p.Ile946Val) SNV
Germline		 Chr17:43092695 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_876660901

4 SubmittersRCV001016569RCV001236389RCV002268405
NM_007294.4(BRCA1):c.2737A>G (p.Asn913Asp) SNV
Germline		 Chr17:43092794 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597867982

3 SubmittersRCV001016444RCV002549440
NM_007294.4(BRCA1):c.2708G>A (p.Cys903Tyr) SNV
Germline		 Chr17:43092823 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597868170

3 SubmittersRCV001016243RCV002295320
NM_007294.4(BRCA1):c.2620A>G (p.Asn874Asp) SNV
Germline		 Chr17:43092911 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1064795862

3 SubmittersRCV001016127RCV001860817
NM_007294.4(BRCA1):c.2578A>G (p.Thr860Ala) SNV
Germline		 Chr17:43092953 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_373207084

3 SubmittersRCV001015998RCV001873271
NM_007294.4(BRCA1):c.2516A>G (p.His839Arg) SNV
Germline		 Chr17:43093015 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1050289746

6 SubmittersRCV001015822RCV001207636RCV002298828RCV003478624
NM_007294.4(BRCA1):c.2476A>C (p.Thr826Pro) SNV
Germline		 Chr17:43093055 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597869768

3 SubmittersRCV001015651RCV001873265
NM_007294.4(BRCA1):c.2419G>A (p.Ala807Thr) SNV
Germline		 Chr17:43093112 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357240

3 SubmittersRCV001015484RCV002549420
NM_007294.4(BRCA1):c.2372T>G (p.Leu791Arg) SNV
Germline		 Chr17:43093159 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_774730386

4 SubmittersRCV001015338RCV001337936RCV003328644
NM_007294.4(BRCA1):c.2329T>C (p.Tyr777His) SNV
Germline		 Chr17:43093202 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507199

4 SubmittersRCV001015207RCV001210224
NM_007294.4(BRCA1):c.2290G>A (p.Val764Ile) SNV
Germline		 Chr17:43093241 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_768904580

4 SubmittersRCV001015089RCV002295319RCV003155337
NM_007294.4(BRCA1):c.2113G>A (p.Ala705Thr) SNV
Germline		 Chr17:43093418 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597872085

3 SubmittersRCV001014507RCV003645129
NM_007294.4(BRCA1):c.2099T>A (p.Leu700Gln) SNV
Germline		 Chr17:43093432 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567797015

4 SubmittersRCV001014429RCV002550792
NM_007294.4(BRCA1):c.2096A>G (p.Glu699Gly) SNV
Germline		 Chr17:43093435 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597872173

4 SubmittersRCV001014415RCV001225659
NM_007294.4(BRCA1):c.2062A>G (p.Thr688Ala) SNV
Germline		 Chr17:43093469 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597872432

3 SubmittersRCV001014279RCV001062994
NM_007294.4(BRCA1):c.2029G>T (p.Gly677Ter) SNV
Germline		 Chr17:43093502 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597872603

2 SubmittersRCV001014134RCV001860758
NM_007294.4(BRCA1):c.2027C>T (p.Thr676Ile) SNV
Germline		 Chr17:43093504 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597872628

3 SubmittersRCV001014110RCV001059917
NM_007294.4(BRCA1):c.1906T>G (p.Cys636Gly) SNV
Germline		 Chr17:43093625 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1334848140

3 SubmittersRCV001013580RCV001873247
NM_007294.4(BRCA1):c.1888A>T (p.Asn630Tyr) SNV
Germline		 Chr17:43093643 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597873547

3 SubmittersRCV001013564RCV001051758
NM_007294.4(BRCA1):c.1861C>T (p.His621Tyr) SNV
Germline		 Chr17:43093670 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597873711

3 SubmittersRCV001013430RCV001873244
NM_007294.4(BRCA1):c.1854G>T (p.Arg618Ser) SNV
Germline		 Chr17:43093677 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060504585

3 SubmittersRCV001013353RCV001349100
NM_007294.4(BRCA1):c.1841A>G (p.Lys614Arg) SNV
Germline		 Chr17:43093690 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_1597873869

6 SubmittersRCV001013367RCV001361991RCV001766832RCV003987761
NM_007294.4(BRCA1):c.1742A>G (p.Lys581Arg) SNV
Germline		 Chr17:43093789 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1597874458

4 SubmittersRCV001012923RCV001308523RCV003478617
NM_007294.4(BRCA1):c.1717T>A (p.Ser573Thr) SNV
Germline		 Chr17:43093814 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_876660448

4 SubmittersRCV001012857RCV002295317RCV003483752
NM_007294.4(BRCA1):c.1706A>G (p.Asn569Ser) SNV
Germline		 Chr17:43093825 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060502329

3 SubmittersRCV001012753RCV002549377
NM_007294.4(BRCA1):c.1661A>G (p.Glu554Gly) SNV
Germline		 Chr17:43093870 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1597874812

4 SubmittersRCV001012634RCV001216000RCV004004513
NM_007294.4(BRCA1):c.1607C>T (p.Thr536Ile) SNV
Germline		 Chr17:43093924 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122638

3 SubmittersRCV001012401RCV001860706
NM_007294.4(BRCA1):c.1552A>G (p.Ile518Val) SNV
Germline		 Chr17:43093979 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597875402

4 SubmittersRCV001012129RCV003645125
NM_007294.4(BRCA1):c.1501A>C (p.Lys501Gln) SNV
Germline		 Chr17:43094030 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1064793883

3 SubmittersRCV001011900RCV003645124
NM_007294.4(BRCA1):c.1457T>C (p.Phe486Ser) SNV
Germline		 Chr17:43094074 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_774159828

3 SubmittersRCV001011676RCV001066776
NM_007294.4(BRCA1):c.1436A>G (p.Glu479Gly) SNV
Germline		 Chr17:43094095 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597876039

3 SubmittersRCV001011570RCV001860669
NM_007294.4(BRCA1):c.1412T>C (p.Leu471Pro) SNV
Germline		 Chr17:43094119 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1167718207

3 SubmittersRCV001011475RCV003645123
NM_007294.4(BRCA1):c.1363A>G (p.Asn455Asp) SNV
Germline		 Chr17:43094168 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1468740591

4 SubmittersRCV001011133RCV003769441
NM_007294.4(BRCA1):c.1334A>G (p.Glu445Gly) SNV
Germline		 Chr17:43094197 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597876729

3 SubmittersRCV001011106RCV001860658
NM_007294.4(BRCA1):c.1322T>C (p.Ile441Thr) SNV
Germline		 Chr17:43094209 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1163497041

4 SubmittersRCV001011013RCV001218808
NM_007294.4(BRCA1):c.1207T>G (p.Ser403Ala) SNV
Germline		 Chr17:43094324 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555592200

4 SubmittersRCV001010285RCV001034788
NM_007294.4(BRCA1):c.1181G>A (p.Gly394Asp) SNV
Germline		 Chr17:43094350 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555592295

3 SubmittersRCV001010186RCV002551727
NM_007294.4(BRCA1):c.1144G>T (p.Val382Phe) SNV
Germline		 Chr17:43094387 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1160165083

3 SubmittersRCV001017448RCV001211353
NM_007294.4(BRCA1):c.1007C>G (p.Thr336Arg) SNV
Germline		 Chr17:43094524 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1597878639

4 SubmittersRCV001009674RCV001374318RCV003316818
NM_007294.4(BRCA1):c.914G>T (p.Cys305Phe) SNV
Germline		 Chr17:43094617 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_751124745

3 SubmittersRCV001018918RCV001860931
NM_007294.4(BRCA1):c.896T>C (p.Val299Ala) SNV
Germline		 Chr17:43094635 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597879349

3 SubmittersRCV001018575RCV001234635
NM_007294.4(BRCA1):c.852G>C (p.Gln284His) SNV
Germline		 Chr17:43094679 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1597879571

4 SubmittersRCV001017965RCV002550836RCV004004570
NM_007294.4(BRCA1):c.769C>T (p.His257Tyr) SNV
Germline		 Chr17:43094762 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597880077

3 SubmittersRCV001026724RCV001202280
NM_007294.4(BRCA1):c.512T>C (p.Ile171Thr) SNV
Germline		 Chr17:43099810 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597887805

2 SubmittersRCV001023594RCV001046899
NM_007294.4(BRCA1):c.176C>T (p.Ser59Leu) SNV
Germline		 Chr17:43106492 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_199522616

5 SubmittersRCV001072604RCV001013089RCV001254343RCV002298823
NM_007294.4(BRCA1):c.80G>A (p.Cys27Tyr) SNV
Germline		 Chr17:43124017 Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1064793052

5 SubmittersRCV001027178RCV001049303RCV001077721RCV004554845
NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter) SNV
Germline		 Chr17:58692776 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1598449660

4 SubmittersRCV001010939RCV001030585RCV001860653RCV004030308
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter) SNV
Germline		 Chr17:61808721 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1603346983

3 SubmittersRCV001025497RCV001381445RCV002236282
NM_000059.4(BRCA2):c.67+3A>G SNV
Germline		 Chr13:32316530 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1593880835

4 SubmittersRCV001025553RCV001356037RCV001862331
NM_000059.4(BRCA2):c.475+2T>C SNV
Germline		 Chr13:32326152 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555280966

2 SubmittersRCV001022990RCV001388345
NM_000059.4(BRCA2):c.8755-1G>T SNV
Germline		 Chr13:32379316 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_81002812

2 SubmittersRCV001018279RCV004017774
NM_000059.4(BRCA2):c.8954-3C>T SNV
Germline		 Chr13:32379747 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_81002844

4 SubmittersRCV001018543RCV001585924RCV002551811
NM_032043.3(BRIP1):c.918+2T>C SNV
Germline		 Chr17:61808465 Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1603346587

2 SubmittersRCV001018964RCV001030544
NM_007194.4(CHEK2):c.908+2T>C SNV
Germline		 Chr22:28703503 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1601752066

4 SubmittersRCV001018803RCV001239956RCV002298833
NM_000251.3(MSH2):c.448G>T (p.Val150Phe) SNV
Germline		 Chr2:47410175 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1558459157

4 SubmittersRCV001030706RCV001357699RCV002249638RCV002327243
NM_000249.4(MLH1):c.1855G>A (p.Ala619Thr) SNV
Germline		 Chr3:37047642 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_267607866

4 SubmittersRCV001030631RCV002409352RCV003758991RCV004555612
NM_139076.3(ABRAXAS1):c.1022C>T (p.Pro341Leu) SNV
Germline		 Chr4:83462677 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_1722173605

3 SubmittersRCV001030694RCV001056044RCV004030923
NM_021930.6(RINT1):c.311G>A (p.Arg104Gln) SNV
Germline		 Chr7:105542445 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_866948739

3 SubmittersRCV001030662RCV001307212RCV004030920
NM_002907.4(RECQL):c.742G>A (p.Ala248Thr) SNV
Germline		 Chr12:21477928 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_202110155

4 SubmittersRCV001030659RCV001046741RCV004030918
NM_000057.4(BLM):c.3751+2T>C SNV
Germline		 Chr15:90804361 Likely pathogenic Hereditary breast ovarian cancer syndrome
Bloom syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1897239414

2 SubmittersRCV001030460RCV002552042
NM_001042492.3(NF1):c.2351G>C (p.Trp784Ser) SNV
Germline		 Chr17:31227548 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Neurofibromatosis, type 1		 Criteria Provided
Conflicting Classifications
 rs_2067038047

3 SubmittersRCV001030573RCV001221530
NM_000059.4(BRCA2):c.3737A>G (p.Asn1246Ser) SNV
Germline		 Chr13:32338092 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660679

3 SubmittersRCV001034467RCV002346235
NM_000051.4(ATM):c.2813C>T (p.Pro938Leu) SNV
Germline		 Chr11:108268584 Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1183804155

2 SubmittersRCV001070304RCV002225793
NM_000059.4(BRCA2):c.919A>G (p.Ser307Gly) SNV
Germline		 Chr13:32332397 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1039490629

2 SubmittersRCV001070682RCV003158418
NM_000059.4(BRCA2):c.946A>G (p.Arg316Gly) SNV
Germline		 Chr13:32332424 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072400992

2 SubmittersRCV001061993RCV003158388
NM_000059.4(BRCA2):c.967G>T (p.Val323Leu) SNV
Germline		 Chr13:32332445 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566222487

2 SubmittersRCV001064990RCV003158400
NM_000059.4(BRCA2):c.1007C>A (p.Ala336Glu) SNV
Germline		 Chr13:32332485 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072402481

2 SubmittersRCV001047607RCV003158340
NM_000059.4(BRCA2):c.1048G>T (p.Glu350Ter) SNV
Germline		 Chr13:32332526 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2072403231

2 SubmittersRCV001044365RCV002400253
NM_000059.4(BRCA2):c.1063G>T (p.Val355Leu) SNV
Germline		 Chr13:32332541 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072403612

2 SubmittersRCV001061333RCV003158386
NM_000059.4(BRCA2):c.1148T>A (p.Ile383Asn) SNV
Germline		 Chr13:32332626 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072405281

2 SubmittersRCV001067731RCV003158408
NM_000059.4(BRCA2):c.1241T>G (p.Leu414Trp) SNV
Germline		 Chr13:32332719 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507576

2 SubmittersRCV001037421RCV003158299
NM_000059.4(BRCA2):c.1252T>C (p.Ser418Pro) SNV
Germline		 Chr13:32332730 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072407631

3 SubmittersRCV001039888RCV002416341
NM_000059.4(BRCA2):c.1271C>G (p.Ser424Ter) SNV
Germline		 Chr13:32332749 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1566223138

1 SubmittersRCV001060024
NM_000059.4(BRCA2):c.1283T>C (p.Leu428Pro) SNV
Germline		 Chr13:32332761 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072408424

2 SubmittersRCV001041673RCV003158315
NM_000059.4(BRCA2):c.1287A>T (p.Leu429Phe) SNV
Germline		 Chr13:32332765 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80359782

2 SubmittersRCV001063939RCV003158397
NM_000059.4(BRCA2):c.1349C>T (p.Ser450Phe) SNV
Germline		 Chr13:32332827 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876659037

2 SubmittersRCV001056034RCV003158371
NM_000059.4(BRCA2):c.1364C>T (p.Ser455Leu) SNV
Germline		 Chr13:32332842 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072410817

2 SubmittersRCV001059155RCV003158380
NM_000059.4(BRCA2):c.1384G>A (p.Glu462Lys) SNV
Germline		 Chr13:32332862 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1593892698

3 SubmittersRCV001036152RCV003158296RCV003478664
NM_000059.4(BRCA2):c.1444C>A (p.Leu482Ile) SNV
Germline		 Chr13:32332922 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587776460

2 SubmittersRCV001061205RCV003158385
NM_000059.4(BRCA2):c.1534C>T (p.Pro512Ser) SNV
Germline		 Chr13:32333012 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072415642

2 SubmittersRCV001035987RCV003158295
NM_000059.4(BRCA2):c.1549A>G (p.Asn517Asp) SNV
Germline		 Chr13:32333027 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072416152

2 SubmittersRCV001039582RCV003158305
NM_000059.4(BRCA2):c.1661G>C (p.Cys554Ser) SNV
Germline		 Chr13:32333139 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_748215651

2 SubmittersRCV001063001RCV003158394
NM_000059.4(BRCA2):c.1732G>A (p.Gly578Ser) SNV
Germline		 Chr13:32333210 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282036

2 SubmittersRCV001042959RCV003158321
NM_000059.4(BRCA2):c.1738A>G (p.Ile580Val) SNV
Germline		 Chr13:32333216 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072420748

2 SubmittersRCV001038252RCV003158303
NM_000059.4(BRCA2):c.1740A>G (p.Ile580Met) SNV
Germline		 Chr13:32333218 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_750989404

4 SubmittersRCV001042317RCV001191189
NM_000059.4(BRCA2):c.1787A>G (p.Asp596Gly) SNV
Germline		 Chr13:32333265 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072422145

2 SubmittersRCV001044137RCV003158325
NM_000059.4(BRCA2):c.1927G>C (p.Val643Leu) SNV
Germline		 Chr13:32336282 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_748394046

2 SubmittersRCV001043129RCV003158323
NM_000059.4(BRCA2):c.1943C>T (p.Ser648Leu) SNV
Germline		 Chr13:32336298 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_886040398

2 SubmittersRCV001065340RCV003158401
NM_000059.4(BRCA2):c.1967C>T (p.Thr656Ile) SNV
Germline		 Chr13:32336322 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_876660857

4 SubmittersRCV001048220RCV002416371RCV003141973
NM_000059.4(BRCA2):c.2020G>T (p.Glu674Ter) SNV
Germline		 Chr13:32336375 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_879255439

3 SubmittersRCV001055104RCV002416407RCV003473656
NM_000059.4(BRCA2):c.2041G>C (p.Val681Leu) SNV
Germline		 Chr13:32336396 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072449369

2 SubmittersRCV001058278RCV003158378
NM_000059.4(BRCA2):c.2107A>G (p.Thr703Ala) SNV
Germline		 Chr13:32336462 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2072450524

3 SubmittersRCV001037941RCV003158301RCV003223689
NM_000059.4(BRCA2):c.2254G>A (p.Asp752Asn) SNV
Germline		 Chr13:32336609 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072453633

2 SubmittersRCV001057062RCV003158375
NM_000059.4(BRCA2):c.2254G>C (p.Asp752His) SNV
Germline		 Chr13:32336609 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072453633

2 SubmittersRCV001062217RCV003158389
NM_000059.4(BRCA2):c.2344C>G (p.Leu782Val) SNV
Germline		 Chr13:32336699 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_749810048

4 SubmittersRCV001057605RCV001176135RCV004000091
NM_000059.4(BRCA2):c.2352G>A (p.Met784Ile) SNV
Germline		 Chr13:32336707 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072455836

3 SubmittersRCV001035492RCV002445208
NM_000059.4(BRCA2):c.2455C>G (p.Gln819Glu) SNV
Germline		 Chr13:32336810 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507629

2 SubmittersRCV001055854RCV003158370
NM_000059.4(BRCA2):c.2466T>A (p.Cys822Ter) SNV
Germline		 Chr13:32336821 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2072458139

2 SubmittersRCV001038402RCV003346265
NM_000059.4(BRCA2):c.2518A>G (p.Met840Val) SNV
Germline		 Chr13:32336873 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072459289

4 SubmittersRCV001050467RCV001524605
NM_000059.4(BRCA2):c.2590C>A (p.Gln864Lys) SNV
Germline		 Chr13:32336945 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060502414

2 SubmittersRCV001035243RCV003158291
NM_000059.4(BRCA2):c.2614A>G (p.Lys872Glu) SNV
Germline		 Chr13:32336969 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072461201

2 SubmittersRCV001035592RCV003158293
NM_000059.4(BRCA2):c.2834A>T (p.Lys945Ile) SNV
Germline		 Chr13:32337189 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1434920074

2 SubmittersRCV001049216RCV003158352
NM_000059.4(BRCA2):c.3051C>G (p.Ile1017Met) SNV
Germline		 Chr13:32337406 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786201561

2 SubmittersRCV001047793RCV003158342
NM_000059.4(BRCA2):c.3136G>A (p.Glu1046Lys) SNV
Germline		 Chr13:32337491 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_772342691

3 SubmittersRCV001070717RCV002320350
NM_000059.4(BRCA2):c.3215T>G (p.Leu1072Ter) SNV
Germline		 Chr13:32337570 Pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2072475273

3 SubmittersRCV001043702RCV001784589RCV004031328
NM_000059.4(BRCA2):c.3250A>G (p.Ser1084Gly) SNV
Germline		 Chr13:32337605 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_369907107

2 SubmittersRCV001054962RCV003158368
NM_000059.4(BRCA2):c.3306T>A (p.Asn1102Lys) SNV
Germline		 Chr13:32337661 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1300305757

3 SubmittersRCV001071164RCV003158421RCV003478691
NM_000059.4(BRCA2):c.3307T>G (p.Leu1103Val) SNV
Germline		 Chr13:32337662 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_773303914

2 SubmittersRCV001068762RCV003158414
NM_000059.4(BRCA2):c.3325G>C (p.Ala1109Pro) SNV
Germline		 Chr13:32337680 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_752886421

2 SubmittersRCV001050065RCV003158357
NM_000059.4(BRCA2):c.3391A>G (p.Arg1131Gly) SNV
Germline		 Chr13:32337746 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072479150

3 SubmittersRCV001038124RCV003158302RCV004004719
NM_000059.4(BRCA2):c.3404A>G (p.Tyr1135Cys) SNV
Germline		 Chr13:32337759 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072479515

5 SubmittersRCV001049830RCV001189035RCV004004796
NM_000059.4(BRCA2):c.3407T>G (p.Ile1136Arg) SNV
Germline		 Chr13:32337762 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122765

2 SubmittersRCV001047288RCV003158338
NM_000059.4(BRCA2):c.3482A>T (p.Asp1161Val) SNV
Germline		 Chr13:32337837 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060502458

2 SubmittersRCV001071715RCV003158424
NM_000059.4(BRCA2):c.3521G>T (p.Gly1174Val) SNV
Germline		 Chr13:32337876 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283272

3 SubmittersRCV001059937RCV002451254
NM_000059.4(BRCA2):c.3601A>G (p.Asn1201Asp) SNV
Germline		 Chr13:32337956 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072484460

2 SubmittersRCV001060716RCV003158384
NM_000059.4(BRCA2):c.3677A>C (p.Lys1226Thr) SNV
Germline		 Chr13:32338032 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358612

2 SubmittersRCV001039978RCV003158308
NM_000059.4(BRCA2):c.3688T>C (p.Ser1230Pro) SNV
Germline		 Chr13:32338043 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_876659979

3 SubmittersRCV001065416RCV003158402RCV004000145
NM_000059.4(BRCA2):c.3752C>A (p.Thr1251Asn) SNV
Germline		 Chr13:32338107 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283384

2 SubmittersRCV001041271RCV003158313
NM_000059.4(BRCA2):c.3763G>A (p.Val1255Ile) SNV
Germline		 Chr13:32338118 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358617

3 SubmittersRCV001035008RCV002346240
NM_000059.4(BRCA2):c.3926T>C (p.Ile1309Thr) SNV
Germline		 Chr13:32338281 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566229403

3 SubmittersRCV001062785RCV002374959
NM_000059.4(BRCA2):c.3996T>G (p.His1332Gln) SNV
Germline		 Chr13:32338351 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901143

2 SubmittersRCV001048321RCV003158346
NM_000059.4(BRCA2):c.4011T>G (p.Asp1337Glu) SNV
Germline		 Chr13:32338366 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072493596

2 SubmittersRCV001035232RCV003158290
NM_000059.4(BRCA2):c.4049A>C (p.His1350Pro) SNV
Germline		 Chr13:32338404 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072494442

2 SubmittersRCV001045263RCV003158329
NM_000059.4(BRCA2):c.4049A>G (p.His1350Arg) SNV
Germline		 Chr13:32338404 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072494442

2 SubmittersRCV001052298RCV003158363
NM_000059.4(BRCA2):c.4124A>G (p.Glu1375Gly) SNV
Germline		 Chr13:32338479 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072496648

2 SubmittersRCV001067995RCV003158410
NM_000059.4(BRCA2):c.4132A>G (p.Thr1378Ala) SNV
Germline		 Chr13:32338487 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1204269313

2 SubmittersRCV001056735RCV003158374
NM_000059.4(BRCA2):c.4135C>T (p.Gln1379Ter) SNV
Germline		 Chr13:32338490 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2072497088

2 SubmittersRCV001053734RCV004570202
NM_000059.4(BRCA2):c.4255A>C (p.Lys1419Gln) SNV
Germline		 Chr13:32338610 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072499955

2 SubmittersRCV001047307RCV003158339
NM_000059.4(BRCA2):c.4322A>C (p.Glu1441Ala) SNV
Germline		 Chr13:32338677 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1198430908

2 SubmittersRCV001070822RCV003158419
NM_000059.4(BRCA2):c.4364A>T (p.Glu1455Val) SNV
Germline		 Chr13:32338719 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072502464

3 SubmittersRCV001070105RCV003158416
NM_000059.4(BRCA2):c.4391C>G (p.Ser1464Cys) SNV
Germline		 Chr13:32338746 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587776464

4 SubmittersRCV001062386RCV003158392
NM_000059.4(BRCA2):c.4415A>G (p.Lys1472Arg) SNV
Germline		 Chr13:32338770 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072503705

4 SubmittersRCV001041779RCV003158316
NM_000059.4(BRCA2):c.4463A>G (p.His1488Arg) SNV
Germline		 Chr13:32338818 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1335405008

3 SubmittersRCV001068027RCV002327353
NM_000059.4(BRCA2):c.4474A>G (p.Lys1492Glu) SNV
Germline		 Chr13:32338829 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1057517636

2 SubmittersRCV001056309RCV003158372
NM_000059.4(BRCA2):c.4499G>A (p.Gly1500Glu) SNV
Germline		 Chr13:32338854 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072505831

2 SubmittersRCV001049507RCV003158355
NM_000059.4(BRCA2):c.4574A>T (p.His1525Leu) SNV
Germline		 Chr13:32338929 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_397507336

5 SubmittersRCV001040512RCV001524520RCV001776098RCV004004732
NM_000059.4(BRCA2):c.4584C>A (p.Ser1528Arg) SNV
Germline		 Chr13:32338939 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80359788

2 SubmittersRCV001039919RCV003158306
NM_000059.4(BRCA2):c.4586G>A (p.Gly1529Glu) SNV
Germline		 Chr13:32338941 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072508418

2 SubmittersRCV001047042RCV003158337
NM_000059.4(BRCA2):c.4645A>G (p.Lys1549Glu) SNV
Germline		 Chr13:32339000 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072509841

3 SubmittersRCV001037491RCV002337098
NM_000059.4(BRCA2):c.4651C>G (p.Gln1551Glu) SNV
Germline		 Chr13:32339006 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876661062

3 SubmittersRCV001063661RCV002339317
NM_000059.4(BRCA2):c.4688G>C (p.Trp1563Ser) SNV
Germline		 Chr13:32339043 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_864622546

2 SubmittersRCV001064296RCV003158398
NM_000059.4(BRCA2):c.4707C>G (p.Tyr1569Ter) SNV
Germline		 Chr13:32339062 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_878853585

2 SubmittersRCV001071210RCV002339348
NM_000059.4(BRCA2):c.4715C>G (p.Ala1572Gly) SNV
Germline		 Chr13:32339070 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072511378

3 SubmittersRCV001042578RCV002339212
NM_000059.4(BRCA2):c.4745C>T (p.Thr1582Ile) SNV
Germline		 Chr13:32339100 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_746821851

2 SubmittersRCV001039927RCV003158307
NM_000059.4(BRCA2):c.4750G>C (p.Glu1584Gln) SNV
Germline		 Chr13:32339105 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_745632282

2 SubmittersRCV001047796RCV003158343
NM_000059.4(BRCA2):c.4800T>G (p.Asn1600Lys) SNV
Germline		 Chr13:32339155 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072513080

2 SubmittersRCV001070307RCV003158417
NM_000059.4(BRCA2):c.4852G>A (p.Asp1618Asn) SNV
Germline		 Chr13:32339207 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072514226

4 SubmittersRCV001053525RCV001800946RCV003158367
NM_000059.4(BRCA2):c.4883A>G (p.Lys1628Arg) SNV
Germline		 Chr13:32339238 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072514952

3 SubmittersRCV001049917RCV003158356
NM_000059.4(BRCA2):c.4899C>G (p.Ile1633Met) SNV
Germline		 Chr13:32339254 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1028371302

2 SubmittersRCV001067292RCV003158407
NM_000059.4(BRCA2):c.4936G>C (p.Glu1646Gln) SNV
Germline		 Chr13:32339291 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_886038111

2 SubmittersRCV001071202RCV003158422
NM_000059.4(BRCA2):c.5054C>T (p.Ser1685Leu) SNV
Germline		 Chr13:32339409 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_398122791

3 SubmittersRCV001034946RCV003158289RCV004004685
NM_000059.4(BRCA2):c.5065G>A (p.Ala1689Thr) SNV
Germline		 Chr13:32339420 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_767200163

3 SubmittersRCV001050538RCV002339254
NM_000059.4(BRCA2):c.5083G>T (p.Glu1695Ter) SNV
Germline		 Chr13:32339438 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_938190132

3 SubmittersRCV001036686RCV002337091RCV003461433
NM_000059.4(BRCA2):c.5139T>A (p.Asn1713Lys) SNV
Germline		 Chr13:32339494 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072521292

2 SubmittersRCV001044251RCV003158326
NM_000059.4(BRCA2):c.5164A>C (p.Ser1722Arg) SNV
Germline		 Chr13:32339519 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358741

2 SubmittersRCV001042910RCV003158319
NM_000059.4(BRCA2):c.5180A>G (p.Asn1727Ser) SNV
Germline		 Chr13:32339535 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072522543

2 SubmittersRCV001062352RCV003158391
NM_000059.4(BRCA2):c.5201A>T (p.Glu1734Val) SNV
Germline		 Chr13:32339556 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1200008651

4 SubmittersRCV001065373RCV001181459
NM_000059.4(BRCA2):c.5208A>G (p.Gln1736=) SNV
Germline		 Chr13:32339563 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072523424

2 SubmittersRCV001036187RCV004030973
NM_000059.4(BRCA2):c.5309C>G (p.Ser1770Cys) SNV
Germline		 Chr13:32339664 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072526480

2 SubmittersRCV001055039RCV003158369
NM_000059.4(BRCA2):c.5435A>T (p.Glu1812Val) SNV
Germline		 Chr13:32339790 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072529304

2 SubmittersRCV001071882RCV003158425
NM_000059.4(BRCA2):c.5476G>C (p.Ala1826Pro) SNV
Germline		 Chr13:32339831 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072530360

2 SubmittersRCV001053218RCV003158365
NM_000059.4(BRCA2):c.5486T>C (p.Leu1829Ser) SNV
Germline		 Chr13:32339841 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072530512

3 SubmittersRCV001060580RCV002348439
NM_000059.4(BRCA2):c.5512G>T (p.Glu1838Ter) SNV
Germline		 Chr13:32339867 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2072531117

1 SubmittersRCV001066367
NM_000059.4(BRCA2):c.5566C>T (p.His1856Tyr) SNV
Germline		 Chr13:32339921 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_755791142

5 SubmittersRCV001043657RCV001819757RCV003158324RCV004004763
NM_000059.4(BRCA2):c.5617G>T (p.Val1873Leu) SNV
Germline		 Chr13:32339972 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072533593

2 SubmittersRCV001041217RCV003158312
NM_000059.4(BRCA2):c.5702A>G (p.Glu1901Gly) SNV
Germline		 Chr13:32340057 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_773600818

2 SubmittersRCV001048085RCV003158344
NM_000059.4(BRCA2):c.5741G>T (p.Ser1914Ile) SNV
Germline		 Chr13:32340096 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358801

3 SubmittersRCV001051485RCV003158361
NM_000059.4(BRCA2):c.5796T>G (p.His1932Gln) SNV
Germline		 Chr13:32340151 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786203515

3 SubmittersRCV001042249RCV003158317
NM_000059.4(BRCA2):c.5836T>G (p.Ser1946Ala) SNV
Germline		 Chr13:32340191 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358811

2 SubmittersRCV001052809RCV003158364
NM_000059.4(BRCA2):c.5998T>C (p.Phe2000Leu) SNV
Germline		 Chr13:32340353 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_730881541

2 SubmittersRCV001045630RCV003158332
NM_000059.4(BRCA2):c.6020C>T (p.Thr2007Ile) SNV
Germline		 Chr13:32340375 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507363

3 SubmittersRCV001040701RCV001356070RCV003158311
NM_000059.4(BRCA2):c.6076A>C (p.Thr2026Pro) SNV
Germline		 Chr13:32340431 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_587782249

4 SubmittersRCV001066255RCV002355083RCV002509607
NM_000059.4(BRCA2):c.6085G>A (p.Glu2029Lys) SNV
Germline		 Chr13:32340440 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507828

2 SubmittersRCV001035558RCV003158292
NM_000059.4(BRCA2):c.6101G>C (p.Arg2034Pro) SNV
Germline		 Chr13:32340456 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358849

2 SubmittersRCV001042259RCV003158318
NM_000059.4(BRCA2):c.6104C>T (p.Thr2035Ile) SNV
Germline		 Chr13:32340459 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072546585

2 SubmittersRCV001035596RCV003158294
NM_000059.4(BRCA2):c.6137C>T (p.Ser2046Leu) SNV
Germline		 Chr13:32340492 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072547315

2 SubmittersRCV001065891RCV003158403
NM_000059.4(BRCA2):c.6214T>C (p.Ser2072Pro) SNV
Germline		 Chr13:32340569 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_878853594

2 SubmittersRCV001034943RCV003158288
NM_000059.4(BRCA2):c.6229A>T (p.Lys2077Ter) SNV
Germline		 Chr13:32340584 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2072549579

1 SubmittersRCV001056984
NM_000059.4(BRCA2):c.6249T>A (p.Phe2083Leu) SNV
Germline		 Chr13:32340604 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072550078

2 SubmittersRCV001066833RCV003158406
NM_000059.4(BRCA2):c.6275T>C (p.Leu2092Pro) SNV
Germline		 Chr13:32340630 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072550918

3 SubmittersRCV001057688RCV002355051
NM_000059.4(BRCA2):c.6279C>G (p.His2093Gln) SNV
Germline		 Chr13:32340634 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566234239

2 SubmittersRCV001048641RCV003158348
NM_000059.4(BRCA2):c.6340C>T (p.Pro2114Ser) SNV
Germline		 Chr13:32340695 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072552879

2 SubmittersRCV001048485RCV003158347
NM_000059.4(BRCA2):c.6421G>T (p.Gly2141Cys) SNV
Germline		 Chr13:32340776 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_907252547

3 SubmittersRCV001067291RCV002365767
NM_000059.4(BRCA2):c.6442T>G (p.Ser2148Ala) SNV
Germline		 Chr13:32340797 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1314863621

3 SubmittersRCV001041355RCV003117715RCV003158314
NM_000059.4(BRCA2):c.6553G>T (p.Ala2185Ser) SNV
Germline		 Chr13:32340908 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_746070652

4 SubmittersRCV001066253RCV001800951RCV003158404
NM_000059.4(BRCA2):c.6604G>C (p.Asp2202His) SNV
Germline		 Chr13:32340959 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072560535

4 SubmittersRCV001044245RCV002363591RCV004004768
NM_000059.4(BRCA2):c.6667T>A (p.Phe2223Ile) SNV
Germline		 Chr13:32341022 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072562075

2 SubmittersRCV001062299RCV003158390
NM_000059.4(BRCA2):c.6685G>A (p.Glu2229Lys) SNV
Germline		 Chr13:32341040 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_730881548

3 SubmittersRCV001037623RCV003158300RCV004004711
NM_000059.4(BRCA2):c.6701T>C (p.Phe2234Ser) SNV
Germline		 Chr13:32341056 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072563010

2 SubmittersRCV001042948RCV003158320
NM_000059.4(BRCA2):c.6851C>G (p.Ser2284Ter) SNV
Germline		 Chr13:32344567 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2072597446

1 SubmittersRCV001050383
NM_000059.4(BRCA2):c.7433T>G (p.Leu2478Ter) SNV
Germline		 Chr13:32355286 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2072685323

1 SubmittersRCV001046085
NM_007294.4(BRCA1):c.5509T>A (p.Trp1837Arg) SNV
Germline		 Chr17:43045761 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 rs_80356959

2 SubmittersRCV001058297RCV001077537
NM_007294.4(BRCA1):c.5416C>T (p.Pro1806Ser) SNV
Germline		 Chr17:43047694 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357241

3 SubmittersRCV001076899RCV001034823RCV002346238
NM_007294.4(BRCA1):c.5311C>T (p.Pro1771Ser) SNV
Germline		 Chr17:43051084 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_576727185

3 SubmittersRCV001066378RCV001077176RCV002348461
NM_007294.4(BRCA1):c.5227G>T (p.Gly1743Ter) SNV
Germline		 Chr17:43057102 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 rs_2051517323

2 SubmittersRCV001051852RCV001075900
NM_007294.4(BRCA1):c.5213G>T (p.Gly1738Val) SNV
Germline		 Chr17:43057116 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 rs_80357450

2 SubmittersRCV001048610RCV001072530
NM_007294.4(BRCA1):c.4069G>C (p.Glu1357Gln) SNV
Germline		 Chr17:43091462 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_886040195

2 SubmittersRCV001040049RCV003158309
NM_007294.4(BRCA1):c.3852C>A (p.His1284Gln) SNV
Germline		 Chr17:43091679 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_776070899

5 SubmittersRCV001071209RCV001799039RCV003229614RCV003158423
NM_007294.4(BRCA1):c.3842A>G (p.Gln1281Arg) SNV
Germline		 Chr17:43091689 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357483

2 SubmittersRCV001056649RCV003158373
NM_007294.4(BRCA1):c.3824T>A (p.Ile1275Lys) SNV
Germline		 Chr17:43091707 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053516476

2 SubmittersRCV001063425RCV003158395
NM_007294.4(BRCA1):c.3820G>C (p.Val1274Leu) SNV
Germline		 Chr17:43091711 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053517601

2 SubmittersRCV001067862RCV003158409
NM_007294.4(BRCA1):c.3819G>C (p.Gln1273His) SNV
Germline		 Chr17:43091712 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1293826790

3 SubmittersRCV001058044RCV003158377RCV004000095
NM_007294.4(BRCA1):c.3818A>T (p.Gln1273Leu) SNV
Germline		 Chr17:43091713 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_431825400

3 SubmittersRCV001045445RCV003158331RCV004004777
NM_007294.4(BRCA1):c.3740T>C (p.Val1247Ala) SNV
Germline		 Chr17:43091791 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053534509

2 SubmittersRCV001036312RCV003158297
NM_007294.4(BRCA1):c.3686T>A (p.Leu1229Ter) SNV
Germline		 Chr17:43091845 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2053543910

1 SubmittersRCV001046226
NM_007294.4(BRCA1):c.3542T>G (p.Val1181Gly) SNV
Germline		 Chr17:43091989 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357032

2 SubmittersRCV001050873RCV003158360
NM_007294.4(BRCA1):c.3540C>G (p.Ser1180Arg) SNV
Germline		 Chr17:43091991 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_928545955

2 SubmittersRCV001049226RCV003158353
NM_007294.4(BRCA1):c.3518G>T (p.Ser1173Ile) SNV
Germline		 Chr17:43092013 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_746949187

2 SubmittersRCV001070904RCV003158420
NM_007294.4(BRCA1):c.3419G>A (p.Ser1140Asn) SNV
Germline		 Chr17:43092112 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053590016

2 SubmittersRCV001057074RCV003158376
NM_007294.4(BRCA1):c.3280T>G (p.Tyr1094Asp) SNV
Germline		 Chr17:43092251 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555588026

3 SubmittersRCV001060345RCV003158383
NM_007294.4(BRCA1):c.3272C>T (p.Pro1091Leu) SNV
Germline		 Chr17:43092259 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053616216

4 SubmittersRCV001036731RCV001805980
NM_007294.4(BRCA1):c.3148A>G (p.Ser1050Gly) SNV
Germline		 Chr17:43092383 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053635674

2 SubmittersRCV001068758RCV003158413
NM_007294.4(BRCA1):c.3131T>G (p.Ile1044Ser) SNV
Germline		 Chr17:43092400 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053637993

2 SubmittersRCV001064351RCV003158399
NM_007294.4(BRCA1):c.3035G>C (p.Arg1012Thr) SNV
Germline		 Chr17:43092496 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876658464

3 SubmittersRCV001047117RCV002436576
NM_007294.4(BRCA1):c.3032A>G (p.Glu1011Gly) SNV
Germline		 Chr17:43092499 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053652997

2 SubmittersRCV001036605RCV003158298
NM_007294.4(BRCA1):c.2902C>T (p.Pro968Ser) SNV
Germline		 Chr17:43092629 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1182090591

5 SubmittersRCV001062516RCV001524483RCV003493790
NM_007294.4(BRCA1):c.2893C>T (p.Leu965Phe) SNV
Germline		 Chr17:43092638 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1060502344

5 SubmittersRCV001063596RCV001192250RCV002240501
NM_007294.4(BRCA1):c.2768T>C (p.Val923Ala) SNV
Germline		 Chr17:43092763 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053698662

2 SubmittersRCV001068347RCV003158412
NM_007294.4(BRCA1):c.2599C>G (p.Gln867Glu) SNV
Germline		 Chr17:43092932 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_886038001

2 SubmittersRCV001069056RCV003158415
NM_007294.4(BRCA1):c.2585A>G (p.Lys862Arg) SNV
Germline		 Chr17:43092946 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053734181

3 SubmittersRCV001048939RCV003158351
NM_007294.4(BRCA1):c.2569T>A (p.Leu857Met) SNV
Germline		 Chr17:43092962 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_779895958

2 SubmittersRCV001063453RCV003158396
NM_007294.4(BRCA1):c.2498T>A (p.Leu833Ter) SNV
Germline		 Chr17:43093033 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2053749811

2 SubmittersRCV001040112RCV001524443
NM_007294.4(BRCA1):c.2477C>T (p.Thr826Ile) SNV
Germline		 Chr17:43093054 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_28897683

2 SubmittersRCV001046530RCV003158336
NM_007294.4(BRCA1):c.2435A>G (p.Lys812Arg) SNV
Germline		 Chr17:43093096 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053760679

4 SubmittersRCV001048451RCV002258104
NM_007294.4(BRCA1):c.2375G>A (p.Gly792Glu) SNV
Germline		 Chr17:43093156 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053771901

2 SubmittersRCV001044842RCV003158327
NM_007294.4(BRCA1):c.2365A>G (p.Ser789Gly) SNV
Germline		 Chr17:43093166 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053773104

3 SubmittersRCV001048100RCV003158345
NM_007294.4(BRCA1):c.2351C>G (p.Ser784Trp) SNV
Germline		 Chr17:43093180 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_55914168

3 SubmittersRCV001062433RCV001760028RCV003158393
NM_007294.4(BRCA1):c.2274G>T (p.Leu758Phe) SNV
Germline		 Chr17:43093257 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660823

2 SubmittersRCV001060009RCV003158381
NM_007294.4(BRCA1):c.2125T>G (p.Phe709Val) SNV
Germline		 Chr17:43093406 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053822369

2 SubmittersRCV001047725RCV003158341
NM_007294.4(BRCA1):c.2087C>T (p.Thr696Ile) SNV
Germline		 Chr17:43093444 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1334969117

2 SubmittersRCV001068252RCV003158411
NM_007294.4(BRCA1):c.2036A>C (p.Lys679Thr) SNV
Germline		 Chr17:43093495 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053838870

3 SubmittersRCV001040400RCV003158310
NM_007294.4(BRCA1):c.1905T>G (p.Asn635Lys) SNV
Germline		 Chr17:43093626 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_369373293

3 SubmittersRCV001053866RCV002409448
NM_007294.4(BRCA1):c.1885A>G (p.Arg629Gly) SNV
Germline		 Chr17:43093646 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555590987

2 SubmittersRCV001042978RCV003158322
NM_007294.4(BRCA1):c.1787T>C (p.Leu596Pro) SNV
Germline		 Chr17:43093744 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053883873

3 SubmittersRCV001049754RCV002409427
NM_007294.4(BRCA1):c.1761A>G (p.Ile587Met) SNV
Germline		 Chr17:43093770 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1057523389

2 SubmittersRCV001058665RCV003158379
NM_007294.4(BRCA1):c.1729G>C (p.Glu577Gln) SNV
Germline		 Chr17:43093802 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397508903

3 SubmittersRCV001066382RCV003158405
NM_007294.4(BRCA1):c.1696A>C (p.Lys566Gln) SNV
Germline		 Chr17:43093835 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597874665

2 SubmittersRCV001046377RCV003158335
NM_007294.4(BRCA1):c.1568T>A (p.Leu523Ter) SNV
Germline		 Chr17:43093963 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_397508885

1 SubmittersRCV001050826
NM_007294.4(BRCA1):c.1495A>C (p.Thr499Pro) SNV
Germline		 Chr17:43094036 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053931342

2 SubmittersRCV001050167RCV003158359
NM_007294.4(BRCA1):c.1477A>C (p.Ile493Leu) SNV
Germline		 Chr17:43094054 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053933371

3 SubmittersRCV001062021RCV002393303
NM_007294.4(BRCA1):c.1441C>A (p.Leu481Ile) SNV
Germline		 Chr17:43094090 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1397842308

3 SubmittersRCV001061735RCV002286807RCV003158387
NM_007294.4(BRCA1):c.1408A>G (p.Ser470Gly) SNV
Germline		 Chr17:43094123 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053942184

2 SubmittersRCV001049443RCV003158354
NM_007294.4(BRCA1):c.1379T>C (p.Ile460Thr) SNV
Germline		 Chr17:43094152 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122634

3 SubmittersRCV001045787RCV003238285RCV003158333
NM_007294.4(BRCA1):c.1316C>G (p.Ala439Gly) SNV
Germline		 Chr17:43094215 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_777132211

3 SubmittersRCV001069716RCV002379617
NM_007294.4(BRCA1):c.1300A>C (p.Ser434Arg) SNV
Germline		 Chr17:43094231 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786203753

2 SubmittersRCV001039220RCV003158304
NM_007294.4(BRCA1):c.1289A>G (p.Asp430Gly) SNV
Germline		 Chr17:43094242 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053963023

3 SubmittersRCV001058777RCV002379575
NM_007294.4(BRCA1):c.1258G>C (p.Asp420His) SNV
Germline		 Chr17:43094273 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357488

3 SubmittersRCV001043690RCV002429598
NM_007294.4(BRCA1):c.1206G>C (p.Glu402Asp) SNV
Germline		 Chr17:43094325 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1283231905

2 SubmittersRCV001048811RCV003158350
NM_007294.4(BRCA1):c.1147A>C (p.Asn383His) SNV
Germline		 Chr17:43094384 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053985160

2 SubmittersRCV001045041RCV003158328
NM_007294.4(BRCA1):c.1069A>T (p.Lys357Ter) SNV
Germline		 Chr17:43094462 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2053998767

1 SubmittersRCV001052426
NM_007294.4(BRCA1):c.1069A>G (p.Lys357Glu) SNV
Germline		 Chr17:43094462 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053998767

2 SubmittersRCV001060262RCV003158382
NM_007294.4(BRCA1):c.885C>G (p.Asp295Glu) SNV
Germline		 Chr17:43094646 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060504557

2 SubmittersRCV001048743RCV003158349
NM_007294.4(BRCA1):c.866G>C (p.Ser289Thr) SNV
Germline		 Chr17:43094665 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_776999497

2 SubmittersRCV001053515RCV003158366
NM_007294.4(BRCA1):c.839C>A (p.Ala280Asp) SNV
Germline		 Chr17:43094692 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357199

2 SubmittersRCV001045361RCV003158330
NM_007294.4(BRCA1):c.820T>C (p.Cys274Arg) SNV
Germline		 Chr17:43094711 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_755285181

4 SubmittersRCV001043878RCV001525555
NM_007294.4(BRCA1):c.808C>T (p.His270Tyr) SNV
Germline		 Chr17:43094723 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054044790

2 SubmittersRCV001045888RCV003158334
NM_007294.4(BRCA1):c.779A>G (p.Lys260Arg) SNV
Germline		 Chr17:43094752 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054049431

3 SubmittersRCV001052703RCV002409439
NM_007294.4(BRCA1):c.778A>T (p.Lys260Ter) SNV
Germline		 Chr17:43094753 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_786202263

2 SubmittersRCV001054485RCV002409452
NM_007294.4(BRCA1):c.725G>A (p.Ser242Asn) SNV
Germline		 Chr17:43094806 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054059120

2 SubmittersRCV001051863RCV003158362
NM_007294.4(BRCA1):c.700A>G (p.Thr234Ala) SNV
Germline		 Chr17:43094831 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054062966

2 SubmittersRCV001050102RCV003158358
NM_007294.4(BRCA1):c.350A>T (p.His117Leu) SNV
Germline		 Chr17:43104213 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054632888

3 SubmittersRCV001065043RCV001806009
NM_000059.4(BRCA2):c.7806-1G>C SNV
Germline		 Chr13:32362522 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_81002860

2 SubmittersRCV001055024RCV002409457
NM_007294.4(BRCA1):c.212+3A>T SNV
Germline		 Chr17:43106453 Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Single Submitter
 rs_80358083

2 SubmittersRCV001044820RCV001072652
NM_000059.4(BRCA2):c.475+6A>G SNV
Germline		 Chr13:32326156 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072344881

2 SubmittersRCV001071899RCV001188571
NM_000059.4(BRCA2):c.7805+2T>C SNV
Germline		 Chr13:32357931 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_886040941

1 SubmittersRCV001045776
NM_058216.3(RAD51C):c.966-1G>C SNV
Germline		 Chr17:58732483 Conflicting classifications of pathogenicity Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_876658272

4 SubmittersRCV001055703RCV001328346RCV002379568RCV003478682
NM_007294.4(BRCA1):c.5557T>C (p.Tyr1853His) SNV
Germline		 Chr17:43045713 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_2050860958

2 SubmittersRCV001072340RCV001862798
NM_007294.4(BRCA1):c.5524G>A (p.Val1842Ile) SNV
Germline		 Chr17:43045746 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1296005499

3 SubmittersRCV001078028RCV002555931RCV002348543
NM_007294.4(BRCA1):c.5523T>G (p.Ser1841Arg) SNV
Germline		 Chr17:43045747 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_878854960

2 SubmittersRCV001078027RCV003645194
NM_007294.4(BRCA1):c.5522G>T (p.Ser1841Ile) SNV
Germline		 Chr17:43045748 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_80357368

2 SubmittersRCV001078025RCV002555930
NM_007294.4(BRCA1):c.5503C>G (p.Arg1835Gly) SNV
Germline		 Chr17:43045767 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_41293465

3 SubmittersRCV001072247RCV001862475
NM_007294.4(BRCA1):c.5484T>A (p.Cys1828Ter) SNV
Germline		 Chr17:43045786 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_2050885130

2 SubmittersRCV001077507RCV003530167
NM_007294.4(BRCA1):c.5476C>T (p.Gln1826Ter) SNV
Germline		 Chr17:43045794 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_587782887

3 SubmittersRCV001077978RCV001844266RCV001181150
NM_007294.4(BRCA1):c.5465A>G (p.His1822Arg) SNV
Germline		 Chr17:43047645 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2050976068

3 SubmittersRCV001077438RCV002348533RCV002554790
NM_007294.4(BRCA1):c.5437G>A (p.Asp1813Asn) SNV
Germline		 Chr17:43047673 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1303996018

3 SubmittersRCV001072939RCV002348502RCV003530151
NM_007294.4(BRCA1):c.5428G>A (p.Val1810Met) SNV
Germline		 Chr17:43047682 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2050988927

3 SubmittersRCV001076062RCV001367487RCV003339465
NM_007294.4(BRCA1):c.5420T>C (p.Ile1807Thr) SNV
Germline		 Chr17:43047690 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 rs_2050991229

3 SubmittersRCV001077387RCV003530166RCV003153928
NM_007294.4(BRCA1):c.5405C>T (p.Thr1802Ile) SNV
Germline		 Chr17:43049122 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2051072173

4 SubmittersRCV001076874RCV001862643RCV002348518
NM_007294.4(BRCA1):c.5398C>T (p.Leu1800Phe) SNV
Germline		 Chr17:43049129 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2051074344

3 SubmittersRCV001072836RCV002348500RCV003645161
NM_007294.4(BRCA1):c.5386T>C (p.Ser1796Pro) SNV
Germline		 Chr17:43049141 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2051078701

4 SubmittersRCV001077301RCV002348526RCV002554788
NM_007294.4(BRCA1):c.5380G>A (p.Glu1794Lys) SNV
Germline		 Chr17:43049147 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_776323117

6 SubmittersRCV001073143RCV001254349RCV002348505RCV004554847
NM_007294.4(BRCA1):c.5366C>A (p.Ala1789Asp) SNV
Germline		 Chr17:43049161 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_2051085308

2 SubmittersRCV001077272RCV003645182
NM_007294.4(BRCA1):c.5297T>C (p.Ile1766Thr) SNV
Germline		 Chr17:43051098 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_80357463

2 SubmittersRCV001076764RCV003645176
NM_007294.4(BRCA1):c.5259A>C (p.Arg1753Ser) SNV
Germline		 Chr17:43057070 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_771577266

2 SubmittersRCV001072584RCV003645160
NM_007294.4(BRCA1):c.5249A>G (p.Lys1750Arg) SNV
Germline		 Chr17:43057080 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2051506626

3 SubmittersRCV001075928RCV002348506RCV003645165
NM_007294.4(BRCA1):c.5248A>T (p.Lys1750Ter) SNV
Germline		 Chr17:43057081 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_2051507325

2 SubmittersRCV001072570RCV001234372
NM_007294.4(BRCA1):c.5228G>A (p.Gly1743Glu) SNV
Germline		 Chr17:43057101 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_1346819781

2 SubmittersRCV001075901RCV003483779
NM_007294.4(BRCA1):c.5227G>A (p.Gly1743Arg) SNV
Germline		 Chr17:43057102 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2051517323

3 SubmittersRCV001072545RCV003645159
NM_007294.4(BRCA1):c.5206G>T (p.Val1736Phe) SNV
Germline		 Chr17:43057123 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_377595653

2 SubmittersRCV001076623RCV002307681
NM_007294.4(BRCA1):c.5162A>C (p.Gln1721Pro) SNV
Germline		 Chr17:43063364 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2051867806

3 SubmittersRCV001076517RCV001254333RCV003584827
NM_007294.4(BRCA1):c.5117G>T (p.Gly1706Val) SNV
Germline		 Chr17:43063909 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_80356860

2 SubmittersRCV001077616RCV001308653
NM_007294.4(BRCA1):c.5111T>C (p.Phe1704Ser) SNV
Germline		 Chr17:43063915 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555578598

3 SubmittersRCV001072272RCV001314841
NM_007294.4(BRCA1):c.5105A>T (p.Lys1702Ile) SNV
Germline		 Chr17:43063921 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2051924695

4 SubmittersRCV001077592RCV002339381RCV003645189
NM_007294.4(BRCA1):c.5092G>T (p.Glu1698Ter) SNV
Germline		 Chr17:43063934 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Gastric cancer		 Criteria Provided
Single Submitter
 rs_2051929740

3 SubmittersRCV001077570RCV001194430RCV003160605
NM_007294.4(BRCA1):c.5090G>T (p.Cys1697Phe) SNV
Germline		 Chr17:43063936 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_397507241

2 SubmittersRCV001076366RCV001862640
NM_007294.4(BRCA1):c.5062G>T (p.Val1688Phe) SNV
Germline		 Chr17:43067620 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_2052159968

2 SubmittersRCV001077987RCV001254331
NM_007294.4(BRCA1):c.4957G>T (p.Val1653Leu) SNV
Germline		 Chr17:43070957 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Gastric cancer
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357261

4 SubmittersRCV001077861RCV001420879RCV003160607RCV003339468
NM_007294.4(BRCA1):c.4940A>G (p.Asn1647Ser) SNV
Germline		 Chr17:43070974 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2052370581

3 SubmittersRCV001073177RCV002298868RCV004031176
NM_007294.4(BRCA1):c.4935G>T (p.Arg1645Ser) SNV
Germline		 Chr17:43070979 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357373

3 SubmittersRCV001077844RCV001260425RCV003645192
NM_007294.4(BRCA1):c.4925C>A (p.Ser1642Ter) SNV
Germline		 Chr17:43070989 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_2052376303

2 SubmittersRCV001077837RCV002307683
NM_007294.4(BRCA1):c.4912G>A (p.Glu1638Lys) SNV
Germline		 Chr17:43071002 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2052380758

3 SubmittersRCV001077293RCV002339371RCV001302266
NM_007294.4(BRCA1):c.281A>G (p.Gln94Arg) SNV
Germline		 Chr17:43104888 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054675893

4 SubmittersRCV001073085RCV001190598RCV002557891
NM_007294.4(BRCA1):c.273T>A (p.Cys91Ter) SNV
Germline		 Chr17:43104896 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_397509006

2 SubmittersRCV001077222RCV001231656
NM_007294.4(BRCA1):c.233G>A (p.Arg78Lys) SNV
Germline		 Chr17:43104936 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054692582

3 SubmittersRCV001073027RCV001862485RCV003293868
NM_007294.4(BRCA1):c.134A>G (p.Lys45Arg) SNV
Germline		 Chr17:43115726 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80356863

4 SubmittersRCV001072510RCV001358213RCV001343435RCV002379635
NM_007294.4(BRCA1):c.131G>C (p.Cys44Ser) SNV
Germline		 Chr17:43115729 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_80357446

2 SubmittersRCV001077012RCV003530163
NM_007294.4(BRCA1):c.121C>G (p.His41Asp) SNV
Germline		 Chr17:43115739 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_1060502353

2 SubmittersRCV001077000RCV003645178
NM_007294.4(BRCA1):c.94A>T (p.Lys32Ter) SNV
Germline		 Chr17:43115766 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_2055258887

2 SubmittersRCV001076565RCV001238158
NM_007294.4(BRCA1):c.71G>C (p.Cys24Ser) SNV
Germline		 Chr17:43124026 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_80357198

2 SubmittersRCV001077753RCV002222196
NM_007294.4(BRCA1):c.65T>G (p.Leu22Ter) SNV
Germline		 Chr17:43124032 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80357438

3 SubmittersRCV001076492RCV002557931
NM_007294.4(BRCA1):c.56A>C (p.Gln19Pro) SNV
Germline		 Chr17:43124041 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2055725680

4 SubmittersRCV001076481RCV002348515RCV001340949
NM_007294.4(BRCA1):c.43A>G (p.Ile15Val) SNV
Germline		 Chr17:43124054 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357031

3 SubmittersRCV001072363RCV001224243RCV002327373
NM_007294.4(BRCA1):c.35A>C (p.Gln12Pro) SNV
Germline		 Chr17:43124062 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555601006

3 SubmittersRCV001076454RCV001351289RCV004031199
NM_007294.4(BRCA1):c.22G>T (p.Val8Phe) SNV
Germline		 Chr17:43124075 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_528902306

3 SubmittersRCV001076436RCV002445373RCV001254339
NM_007294.4(BRCA1):c.17T>G (p.Leu6Arg) SNV
Germline		 Chr17:43124080 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2055741739

3 SubmittersRCV001078107RCV001593258RCV003645195
NM_007294.4(BRCA1):c.5467+19C>T SNV
Germline		 Chr17:43047624 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2050971735

3 SubmittersRCV001077463RCV001806020RCV002554791
NM_007294.4(BRCA1):c.5407-13C>A SNV
Germline		 Chr17:43047716 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_761772657

3 SubmittersRCV001073204RCV001185952RCV002554650
NM_007294.4(BRCA1):c.5406+1G>C SNV
Germline		 Chr17:43049120 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_80358028

2 SubmittersRCV001077325RCV002557935
NM_007294.4(BRCA1):c.5333-13A>G SNV
Germline		 Chr17:43049207 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2051099941

3 SubmittersRCV001077216RCV002067735
NM_007294.4(BRCA1):c.5278-2A>C SNV
Germline		 Chr17:43051119 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_397509253

2 SubmittersRCV001077157RCV001254334
NM_007294.4(BRCA1):c.5277+5A>G SNV
Germline		 Chr17:43057047 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397509252

3 SubmittersRCV001075973RCV001862638RCV002348507
NM_007294.4(BRCA1):c.5193+15T>A SNV
Germline		 Chr17:43063318 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2051850619

3 SubmittersRCV001076979RCV001194350RCV001506471
NM_007294.4(BRCA1):c.5153-2A>C SNV
Germline		 Chr17:43063375 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_786202545

3 SubmittersRCV001077719RCV002307682RCV002249674
NM_007294.4(BRCA1):c.5152+5G>T SNV
Germline		 Chr17:43063869 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80358165

3 SubmittersRCV001076462RCV002339366RCV001199923
NM_007294.4(BRCA1):c.5074+3A>T SNV
Germline		 Chr17:43067605 Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80358181

3 SubmittersRCV001076324RCV001376745RCV003293871
NM_007294.4(BRCA1):c.4987-7A>G SNV
Germline		 Chr17:43067702 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1025136518

3 SubmittersRCV001077402RCV001219567RCV002339372
NM_007294.4(BRCA1):c.4986+2T>A SNV
Germline		 Chr17:43070926 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_397509210

4 SubmittersRCV001076909RCV001385887RCV002339367
NM_007294.4(BRCA1):c.213-7A>G SNV
Germline		 Chr17:43104963 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054700180

3 SubmittersRCV001226872RCV001072665RCV002429747
NM_007294.4(BRCA1):c.212+5A>T SNV
Germline		 Chr17:43106451 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054767462

3 SubmittersRCV001077766RCV001203661RCV003160606
NM_007294.4(BRCA1):c.134+2T>A SNV
Germline		 Chr17:43115724 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80358131

3 SubmittersRCV001076219RCV002379637RCV002557930
NM_007294.4(BRCA1):c.81-12C>A SNV
Germline		 Chr17:43115791 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358055

3 SubmittersRCV001076139RCV001456268
NM_007294.4(BRCA1):c.80+3A>C SNV
Germline		 Chr17:43124014 Pathogenic Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_1567823106

2 SubmittersRCV001072412RCV003530146
NM_007294.4(BRCA1):c.2075A>C (p.His692Pro) SNV
Germline		 Chr17:43093456 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_2053831947

5 SubmittersRCV001092624RCV001202161RCV002418576RCV004000219
NM_000059.4(BRCA2):c.9648+127G>A SNV
Germline		 Chr13:32397171 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_182622896

4 SubmittersRCV001171421RCV001593262RCV002069616RCV002256680
NM_000059.3(BRCA2):c.-220G>T SNV
Germline		 Chr13:32315487 Conflicting classifications of pathogenicity Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1036870835

4 SubmittersRCV001111445RCV001111446RCV001425606RCV002511042RCV002259082
NM_000059.4(BRCA2):c.632-3C>T SNV
Germline		 Chr13:32329440 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_568027879

3 SubmittersRCV001113538RCV001113539RCV001188038RCV003530175
NM_007294.4(BRCA1):c.3688T>G (p.Leu1230Val) SNV
Germline		 Chr17:43091843 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786201581

5 SubmittersRCV001125829RCV001856649RCV002451334
NM_007294.4(BRCA1):c.1866G>C (p.Ala622=) SNV
Germline		 Chr17:43093665 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1800064

2 SubmittersRCV001125932RCV002556729
NM_007294.4(BRCA1):c.727A>T (p.Asn243Tyr) SNV
Germline		 Chr17:43094804 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782123

4 SubmittersRCV001125054RCV002379655RCV002558235
NM_000059.4(BRCA2):c.4940C>A (p.Thr1647Lys) SNV
Germline		 Chr13:32339295 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593903891

3 SubmittersRCV001174613RCV001319187RCV003158429
NM_000059.4(BRCA2):c.8611G>T (p.Glu2871Ter) SNV
Germline		 Chr13:32371079 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_587782860

1 SubmittersRCV001174721
NM_000059.4(BRCA2):c.8633-17T>C SNV
Germline		 Chr13:32376653 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566251324

2 SubmittersRCV001174879RCV002068131
NM_000059.4(BRCA2):c.147A>C (p.Glu49Asp) SNV
Germline		 Chr13:32319156 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_779648876

3 SubmittersRCV001179125RCV001216808
NM_000059.4(BRCA2):c.443G>A (p.Cys148Tyr) SNV
Germline		 Chr13:32326118 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Ovarian cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1204909245

5 SubmittersRCV001188487RCV002282474RCV003153938RCV002295334
NM_000059.4(BRCA2):c.921T>A (p.Ser307Arg) SNV
Germline		 Chr13:32332399 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555281636

4 SubmittersRCV001183886RCV002560849
NM_000059.4(BRCA2):c.1000C>T (p.His334Tyr) SNV
Germline		 Chr13:32332478 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593891725

4 SubmittersRCV001181496RCV001876028
NM_000059.4(BRCA2):c.1039C>T (p.Gln347Ter) SNV
Germline		 Chr13:32332517 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_794726967

3 SubmittersRCV001188249RCV002560923
NM_000059.4(BRCA2):c.1045A>G (p.Lys349Glu) SNV
Germline		 Chr13:32332523 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_2072403180

4 SubmittersRCV001185594RCV001876172RCV002249768
NM_000059.4(BRCA2):c.1160T>G (p.Val387Gly) SNV
Germline		 Chr13:32332638 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_373945846

3 SubmittersRCV001186981RCV001876190
NM_000059.4(BRCA2):c.1258G>C (p.Asp420His) SNV
Germline		 Chr13:32332736 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072407813

3 SubmittersRCV001191987RCV003645215
NM_000059.4(BRCA2):c.1309A>G (p.Lys437Glu) SNV
Germline		 Chr13:32332787 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072409220

3 SubmittersRCV001185419RCV001862911
NM_000059.4(BRCA2):c.1424A>G (p.Glu475Gly) SNV
Germline		 Chr13:32332902 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1213277350

5 SubmittersRCV001177170RCV001326348RCV001773419
NM_000059.4(BRCA2):c.1466C>T (p.Ser489Phe) SNV
Germline		 Chr13:32332944 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_587782535

5 SubmittersRCV001180735RCV002560804RCV003478711
NM_000059.4(BRCA2):c.1497G>C (p.Gln499His) SNV
Germline		 Chr13:32332975 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072414803

3 SubmittersRCV001182846RCV001876075
NM_000059.4(BRCA2):c.1548C>G (p.Phe516Leu) SNV
Germline		 Chr13:32333026 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072416104

4 SubmittersRCV001190788RCV001315126
NM_000059.4(BRCA2):c.1674T>G (p.Ile558Met) SNV
Germline		 Chr13:32333152 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072419497

4 SubmittersRCV001183618RCV001876107
NM_000059.4(BRCA2):c.1689G>T (p.Trp563Cys) SNV
Germline		 Chr13:32333167 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358456

4 SubmittersRCV001177806RCV001875859
NM_000059.4(BRCA2):c.1955C>G (p.Ser652Cys) SNV
Germline		 Chr13:32336310 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1593895864

5 SubmittersRCV001190989RCV001315197RCV004528407
NM_000059.4(BRCA2):c.2037T>A (p.Asn679Lys) SNV
Germline		 Chr13:32336392 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1406955615

3 SubmittersRCV001181747RCV003530185
NM_000059.4(BRCA2):c.2129C>T (p.Ser710Leu) SNV
Germline		 Chr13:32336484 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_886040405

4 SubmittersRCV001183963RCV002560851
NM_000059.4(BRCA2):c.2194G>C (p.Glu732Gln) SNV
Germline		 Chr13:32336549 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1244303575

5 SubmittersRCV001187741RCV001788423RCV001862962
NM_000059.4(BRCA2):c.2458G>A (p.Asp820Asn) SNV
Germline		 Chr13:32336813 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593896974

4 SubmittersRCV001192023RCV001337564
NM_000059.4(BRCA2):c.2514A>C (p.Lys838Asn) SNV
Germline		 Chr13:32336869 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072459198

3 SubmittersRCV001183368RCV001876097
NM_000059.4(BRCA2):c.2705C>T (p.Ala902Val) SNV
Germline		 Chr13:32337060 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_749258007

5 SubmittersRCV001182572RCV001238034RCV003479286
NM_000059.4(BRCA2):c.2750T>C (p.Val917Ala) SNV
Germline		 Chr13:32337105 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072463944

3 SubmittersRCV001188200RCV001297509
NM_000059.4(BRCA2):c.2882A>T (p.Gln961Leu) SNV
Germline		 Chr13:32337237 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072467086

3 SubmittersRCV001177746RCV002558860
NM_000059.4(BRCA2):c.3007C>A (p.His1003Asn) SNV
Germline		 Chr13:32337362 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_878853565

4 SubmittersRCV001176261RCV001302722
NM_000059.4(BRCA2):c.3009C>A (p.His1003Gln) SNV
Germline		 Chr13:32337364 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072470391

3 SubmittersRCV001189804RCV002298896
NM_000059.4(BRCA2):c.3014T>C (p.Phe1005Ser) SNV
Germline		 Chr13:32337369 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072470533

4 SubmittersRCV001183128RCV001876086
NM_000059.4(BRCA2):c.3406A>T (p.Ile1136Leu) SNV
Germline		 Chr13:32337761 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_876658683

3 SubmittersRCV001192323RCV001327807
NM_000059.4(BRCA2):c.4259A>T (p.Asp1420Val) SNV
Germline		 Chr13:32338614 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2072500081

5 SubmittersRCV001185375RCV001210739RCV001292803RCV003478721
NM_000059.4(BRCA2):c.4388A>G (p.Asn1463Ser) SNV
Germline		 Chr13:32338743 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1305070555

3 SubmittersRCV001183612RCV001876105
NM_000059.4(BRCA2):c.4470A>G (p.Ile1490Met) SNV
Germline		 Chr13:32338825 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1593902461

5 SubmittersRCV001187153RCV001362914RCV003448372
NM_000059.4(BRCA2):c.4620C>G (p.Asp1540Glu) SNV
Germline		 Chr13:32338975 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283875

4 SubmittersRCV001189443RCV001876215
NM_000059.4(BRCA2):c.4708A>G (p.Arg1570Gly) SNV
Germline		 Chr13:32339063 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072511183

4 SubmittersRCV001176679RCV001324641RCV004006315
NM_000059.4(BRCA2):c.4782G>A (p.Met1594Ile) SNV
Germline		 Chr13:32339137 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_876658930

3 SubmittersRCV001190336RCV003106149
NM_000059.4(BRCA2):c.4862G>A (p.Cys1621Tyr) SNV
Germline		 Chr13:32339217 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_730881534

4 SubmittersRCV001186141RCV001340819
NM_000059.4(BRCA2):c.4913A>C (p.Lys1638Thr) SNV
Germline		 Chr13:32339268 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_771425987

4 SubmittersRCV001184083RCV003645204
NM_000059.4(BRCA2):c.5018C>T (p.Thr1673Ile) SNV
Germline		 Chr13:32339373 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_376249157

4 SubmittersRCV001188183RCV001312551
NM_000059.4(BRCA2):c.5099G>T (p.Gly1700Val) SNV
Germline		 Chr13:32339454 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072520161

3 SubmittersRCV001190291RCV002560079
NM_000059.4(BRCA2):c.5165G>T (p.Ser1722Ile) SNV
Germline		 Chr13:32339520 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_773707172

5 SubmittersRCV001188184RCV001284088RCV001859127
NM_000059.4(BRCA2):c.5185A>G (p.Lys1729Glu) SNV
Germline		 Chr13:32339540 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072522644

3 SubmittersRCV001179151RCV001316904
NM_000059.4(BRCA2):c.5226C>G (p.Asn1742Lys) SNV
Germline		 Chr13:32339581 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1057522266

4 SubmittersRCV001184344RCV003645205
NM_000059.4(BRCA2):c.5269T>C (p.Tyr1757His) SNV
Germline		 Chr13:32339624 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072525454

4 SubmittersRCV001177463RCV001325236
NM_000059.4(BRCA2):c.5351A>C (p.Asn1784Thr) SNV
Germline		 Chr13:32339706 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072527448

3 SubmittersRCV001181454RCV003530184
NM_000059.4(BRCA2):c.5654G>A (p.Cys1885Tyr) SNV
Germline		 Chr13:32340009 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660854

4 SubmittersRCV001184925RCV001876160
NM_000059.4(BRCA2):c.5714A>C (p.His1905Pro) SNV
Germline		 Chr13:32340069 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358796

3 SubmittersRCV001185600RCV002560873
NM_000059.4(BRCA2):c.5716A>G (p.Asn1906Asp) SNV
Germline		 Chr13:32340071 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072536623

3 SubmittersRCV001179761RCV001875949
NM_000059.4(BRCA2):c.5769C>A (p.Asp1923Glu) SNV
Germline		 Chr13:32340124 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_863224309

3 SubmittersRCV001178917RCV002559753
NM_000059.4(BRCA2):c.5788T>G (p.Leu1930Val) SNV
Germline		 Chr13:32340143 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072538460

3 SubmittersRCV001180559RCV001221173
NM_000059.4(BRCA2):c.6152A>C (p.Asn2051Thr) SNV
Germline		 Chr13:32340507 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122549

3 SubmittersRCV001177016RCV002558838
NM_000059.4(BRCA2):c.6263C>G (p.Thr2088Ser) SNV
Germline		 Chr13:32340618 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_767567428

3 SubmittersRCV001181099RCV001876017
NM_000059.4(BRCA2):c.6316C>G (p.Leu2106Val) SNV
Germline		 Chr13:32340671 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660892

4 SubmittersRCV001182388RCV003645200
NM_000059.4(BRCA2):c.6350G>C (p.Cys2117Ser) SNV
Germline		 Chr13:32340705 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072553110

3 SubmittersRCV001189018RCV003645209
NM_000059.4(BRCA2):c.6374C>G (p.Thr2125Ser) SNV
Germline		 Chr13:32340729 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_776937022

4 SubmittersRCV001180021RCV001875969
NM_000059.4(BRCA2):c.6400A>C (p.Asn2134His) SNV
Germline		 Chr13:32340755 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1434431480

4 SubmittersRCV001185078RCV001207107RCV002285452
NM_000059.4(BRCA2):c.6722C>G (p.Thr2241Arg) SNV
Germline		 Chr13:32341077 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_276174877

3 SubmittersRCV001182448RCV002559802
NM_000059.4(BRCA2):c.7015A>G (p.Lys2339Glu) SNV
Germline		 Chr13:32354868 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_2072676209

4 SubmittersRCV001175820RCV001368401RCV002249756
NM_000059.4(BRCA2):c.7868A>T (p.His2623Leu) SNV
Germline		 Chr13:32362585 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 rs_80359012

3 SubmittersRCV001183338RCV001876095RCV003150408
NM_000059.4(BRCA2):c.7895C>T (p.Ala2632Val) SNV
Germline		 Chr13:32362612 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_765839296

3 SubmittersRCV001183821RCV001201632
NM_000059.4(BRCA2):c.8725A>T (p.Lys2909Ter) SNV
Germline		 Chr13:32376762 Pathogenic Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2072875960

3 SubmittersRCV001191822RCV002249774RCV003645214
NM_007294.4(BRCA1):c.4756G>T (p.Glu1586Ter) SNV
Germline		 Chr17:43071158 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2052414656

3 SubmittersRCV001178222RCV001875882RCV003148943
NM_007294.4(BRCA1):c.4539C>A (p.Cys1513Ter) SNV
Germline		 Chr17:43074467 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2052610048

2 SubmittersRCV001186183RCV002560882
NM_007294.4(BRCA1):c.3928A>G (p.Thr1310Ala) SNV
Germline		 Chr17:43091603 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053499046

4 SubmittersRCV001183920RCV001260377RCV002559853
NM_007294.4(BRCA1):c.3857G>T (p.Ser1286Ile) SNV
Germline		 Chr17:43091674 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_142383077

4 SubmittersRCV001187213RCV001373635
NM_007294.4(BRCA1):c.3574C>T (p.Pro1192Ser) SNV
Germline		 Chr17:43091957 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_754014157

4 SubmittersRCV001176483RCV001222553
NM_007294.4(BRCA1):c.3571A>G (p.Ser1191Gly) SNV
Germline		 Chr17:43091960 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053563998

4 SubmittersRCV001185656RCV002559911
NM_007294.4(BRCA1):c.3517A>G (p.Ser1173Gly) SNV
Germline		 Chr17:43092014 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_2053573116

5 SubmittersRCV001187799RCV002560913RCV004008738
NM_007294.4(BRCA1):c.3465T>A (p.Asp1155Glu) SNV
Germline		 Chr17:43092066 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1567791539

4 SubmittersRCV001182145RCV001295671RCV001800958
NM_007294.4(BRCA1):c.3350T>C (p.Val1117Ala) SNV
Germline		 Chr17:43092181 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053602865

4 SubmittersRCV001185557RCV001859110
NM_007294.4(BRCA1):c.3205C>T (p.Gln1069Ter) SNV
Germline		 Chr17:43092326 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2053627043

3 SubmittersRCV001184198RCV001381235
NM_007294.4(BRCA1):c.3114A>C (p.Glu1038Asp) SNV
Germline		 Chr17:43092417 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1479034426

3 SubmittersRCV001191204RCV003770155
NM_007294.4(BRCA1):c.2929C>G (p.Pro977Ala) SNV
Germline		 Chr17:43092602 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1064794043

4 SubmittersRCV001190507RCV003106150
NM_007294.4(BRCA1):c.2911C>T (p.His971Tyr) SNV
Germline		 Chr17:43092620 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357478

4 SubmittersRCV001177734RCV002558859
NM_007294.4(BRCA1):c.2874C>A (p.Phe958Leu) SNV
Germline		 Chr17:43092657 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1029207537

3 SubmittersRCV001177203RCV001875837
NM_007294.4(BRCA1):c.2749A>G (p.Ile917Val) SNV
Germline		 Chr17:43092782 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1334134701

6 SubmittersRCV001191044RCV002222673RCV002560966
NM_007294.4(BRCA1):c.2357T>A (p.Leu786Gln) SNV
Germline		 Chr17:43093174 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_760864137

4 SubmittersRCV001186363RCV001876183
NM_007294.4(BRCA1):c.2144C>G (p.Thr715Ser) SNV
Germline		 Chr17:43093387 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053817641

4 SubmittersRCV001182622RCV001876064
NM_007294.4(BRCA1):c.2140A>G (p.Asn714Asp) SNV
Germline		 Chr17:43093391 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_568312345

4 SubmittersRCV001183207RCV002559826
NM_007294.4(BRCA1):c.2107A>G (p.Thr703Ala) SNV
Germline		 Chr17:43093424 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053825384

3 SubmittersRCV001186207RCV001218185
NM_007294.4(BRCA1):c.2026A>G (p.Thr676Ala) SNV
Germline		 Chr17:43093505 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1268006720

3 SubmittersRCV001188621RCV003645207
NM_007294.4(BRCA1):c.1937G>A (p.Ser646Asn) SNV
Germline		 Chr17:43093594 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053857094

4 SubmittersRCV001188017RCV002559142
NM_007294.4(BRCA1):c.1768A>T (p.Ser590Cys) SNV
Germline		 Chr17:43093763 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357454

4 SubmittersRCV001178429RCV001305149
NM_007294.4(BRCA1):c.1727A>G (p.Lys576Arg) SNV
Germline		 Chr17:43093804 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053893835

3 SubmittersRCV001179202RCV001875926
NM_007294.4(BRCA1):c.1591A>T (p.Met531Leu) SNV
Germline		 Chr17:43093940 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053916000

3 SubmittersRCV001182334RCV003645199
NM_007294.4(BRCA1):c.1523C>A (p.Pro508His) SNV
Germline		 Chr17:43094008 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122637

4 SubmittersRCV001177435RCV001875847
NM_007294.4(BRCA1):c.1480C>G (p.Gln494Glu) SNV
Germline		 Chr17:43094051 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357010

3 SubmittersRCV001176416RCV001314878
NM_007294.4(BRCA1):c.1094G>T (p.Arg365Ile) SNV
Germline		 Chr17:43094437 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053994698

4 SubmittersRCV001187959RCV003645206
NM_007294.4(BRCA1):c.1049G>A (p.Arg350Lys) SNV
Germline		 Chr17:43094482 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054001685

4 SubmittersRCV001180918RCV001223512
NM_007294.4(BRCA1):c.1045G>A (p.Glu349Lys) SNV
Germline		 Chr17:43094486 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_80357338

4 SubmittersRCV001182137RCV001876054RCV004008276
NM_007294.4(BRCA1):c.80+16A>T SNV
Germline		 Chr17:43124001 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_747618610

3 SubmittersRCV001185894RCV002465842RCV002559921
NM_000051.4(ATM):c.3746+18A>G SNV
Germline		 Chr11:108282897 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2082310429

3 SubmittersRCV001192127RCV001863047RCV002225806
NM_000059.4(BRCA2):c.6937+5A>G SNV
Germline		 Chr13:32344658 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507379

3 SubmittersRCV001179754RCV002558922
NM_000059.4(BRCA2):c.8754+1G>C SNV
Germline		 Chr13:32376792 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_397508006

2 SubmittersRCV001182890RCV001243882
NM_007294.4(BRCA1):c.441+8C>T SNV
Germline		 Chr17:43104114 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_756130118

3 SubmittersRCV001180530RCV002307691
NM_000059.4(BRCA2):c.860T>C (p.Met287Thr) SNV
Germline		 Chr13:32332338 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072398884

4 SubmittersRCV001193359RCV001338980RCV001284451RCV003158441
NM_000059.4(BRCA2):c.1553C>G (p.Ala518Gly) SNV
Germline		 Chr13:32333031 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072416288

4 SubmittersRCV001192643RCV001863052RCV003158439
NM_000059.4(BRCA2):c.4622A>G (p.Lys1541Arg) SNV
Germline		 Chr13:32338977 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_747899091

3 SubmittersRCV001193170RCV003158440RCV003530187
NM_000059.4(BRCA2):c.5279C>A (p.Ser1760Ter) SNV
Germline		 Chr13:32339634 Pathogenic Hereditary breast ovarian cancer syndrome
Gastric cancer		 Criteria Provided
Single Submitter
 rs_80358751

2 SubmittersRCV001193324RCV003163487
NM_000059.4(BRCA2):c.6611C>A (p.Pro2204His) SNV
Germline		 Chr13:32340966 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1555284771

6 SubmittersRCV001192647RCV001294632RCV001806037RCV003444781
NM_007294.4(BRCA1):c.3925A>G (p.Asn1309Asp) SNV
Germline		 Chr17:43091606 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053499636

4 SubmittersRCV001192478RCV002375117RCV002561004
NM_007294.4(BRCA1):c.2705A>G (p.Glu902Gly) SNV
Germline		 Chr17:43092826 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_747287311

4 SubmittersRCV001193191RCV002436764RCV003645218
NM_007294.4(BRCA1):c.2604A>G (p.Ser868=) SNV
Germline		 Chr17:43092927 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_864622491

2 SubmittersRCV001192479RCV002069201
NM_007294.4(BRCA1):c.1231G>C (p.Asp411His) SNV
Germline		 Chr17:43094300 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357301

3 SubmittersRCV001194452RCV003158446RCV003645221
NM_007294.4(BRCA1):c.913T>C (p.Cys305Arg) SNV
Germline		 Chr17:43094618 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597879229

5 SubmittersRCV001193164RCV001350576RCV002375121
NM_000059.4(BRCA2):c.517-2A>T SNV
Germline		 Chr13:32326497 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_81002858

1 SubmittersRCV001193889
NM_000059.4(BRCA2):c.7436-1G>T SNV
Germline		 Chr13:32356427 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_886040939

2 SubmittersRCV001193423
NM_000059.4(BRCA2):c.9256+8A>G SNV
Germline		 Chr13:32380153 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1312250808

2 SubmittersRCV001193167RCV002069214
NM_007294.4(BRCA1):c.5074+19C>T SNV
Germline		 Chr17:43067589 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2052152874

2 SubmittersRCV001194382RCV003645220
NM_007294.4(BRCA1):c.4185+1G>C SNV
Germline		 Chr17:43090943 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_80358076

1 SubmittersRCV001192473
NM_003579.4(RAD54L):c.1138C>T (p.Arg380Trp) SNV
Germline		 Chr1:46270754 Conflicting classifications of pathogenicity Premature ovarian failure
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_150138364

2 SubmittersRCV001270182RCV002225807
NM_058216.3(RAD51C):c.837+1G>C SNV
Germline		 Chr17:58709991 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O
Gastric cancer
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_760235677

6 SubmittersRCV001199931RCV001378839RCV003163505RCV003163504RCV004033484
NM_000059.4(BRCA2):c.299A>C (p.Lys100Thr) SNV
Germline		 Chr13:32319308 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072290145

3 SubmittersRCV001222027RCV003163710
NM_000059.4(BRCA2):c.844C>T (p.His282Tyr) SNV
Germline		 Chr13:32332322 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_768605944

2 SubmittersRCV001218501RCV003158519
NM_000059.4(BRCA2):c.952A>G (p.Lys318Glu) SNV
Germline		 Chr13:32332430 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397508060

2 SubmittersRCV001217298RCV003158514
NM_000059.4(BRCA2):c.1048G>A (p.Glu350Lys) SNV
Germline		 Chr13:32332526 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072403231

2 SubmittersRCV001215803RCV003158506
NM_000059.4(BRCA2):c.1363T>C (p.Ser455Pro) SNV
Germline		 Chr13:32332841 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_747592488

2 SubmittersRCV001222883RCV003158539
NM_000059.4(BRCA2):c.1366G>T (p.Glu456Ter) SNV
Germline		 Chr13:32332844 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_778142232

2 SubmittersRCV001223222RCV003346387
NM_000059.4(BRCA2):c.1729G>A (p.Ala577Thr) SNV
Germline		 Chr13:32333207 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072420568

4 SubmittersRCV001218722RCV002402656RCV004010721
NM_000059.4(BRCA2):c.1777G>A (p.Ala593Thr) SNV
Germline		 Chr13:32333255 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_431825286

2 SubmittersRCV001215366RCV003158502
NM_000059.4(BRCA2):c.1816C>A (p.Pro606Thr) SNV
Germline		 Chr13:32333294 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_765924757

2 SubmittersRCV001218869RCV003158521
NM_000059.4(BRCA2):c.2114A>G (p.Glu705Gly) SNV
Germline		 Chr13:32336469 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072450678

2 SubmittersRCV001215110RCV003158500
NM_000059.4(BRCA2):c.2333T>A (p.Val778Asp) SNV
Germline		 Chr13:32336688 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1064793704

2 SubmittersRCV001216233RCV003158509
NM_000059.4(BRCA2):c.2549A>C (p.Gln850Pro) SNV
Germline		 Chr13:32336904 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072459937

3 SubmittersRCV001218375RCV002429930
NM_000059.4(BRCA2):c.2833A>T (p.Lys945Ter) SNV
Germline		 Chr13:32337188 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2072466023

1 SubmittersRCV001222906
NM_000059.4(BRCA2):c.2874T>G (p.Ser958Arg) SNV
Germline		 Chr13:32337229 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566227393

4 SubmittersRCV001220005RCV001806056
NM_000059.4(BRCA2):c.3184C>G (p.Pro1062Ala) SNV
Germline		 Chr13:32337539 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283083

3 SubmittersRCV001220618RCV002322066
NM_000059.4(BRCA2):c.3420T>A (p.Ser1140Arg) SNV
Germline		 Chr13:32337775 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_118093942

3 SubmittersRCV001224098RCV002451525
NM_000059.4(BRCA2):c.3550G>A (p.Gly1184Ser) SNV
Germline		 Chr13:32337905 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593899860

2 SubmittersRCV001216434RCV003158511
NM_000059.4(BRCA2):c.3566A>C (p.Lys1189Thr) SNV
Germline		 Chr13:32337921 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072483773

3 SubmittersRCV001222635RCV003158535
NM_000059.4(BRCA2):c.3639A>C (p.Glu1213Asp) SNV
Germline		 Chr13:32337994 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1303026901

2 SubmittersRCV001222628RCV003158534
NM_000059.4(BRCA2):c.3816G>C (p.Met1272Ile) SNV
Germline		 Chr13:32338171 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1469541725

3 SubmittersRCV001220912RCV001535557RCV003158527
NM_000059.4(BRCA2):c.3971A>C (p.Tyr1324Ser) SNV
Germline		 Chr13:32338326 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1486461236

2 SubmittersRCV001214458RCV003158498
NM_000059.4(BRCA2):c.4017T>G (p.Ser1339Arg) SNV
Germline		 Chr13:32338372 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901181

2 SubmittersRCV001214930RCV003158499
NM_000059.4(BRCA2):c.4198C>T (p.His1400Tyr) SNV
Germline		 Chr13:32338553 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072498694

2 SubmittersRCV001224327RCV003158544
NM_000059.4(BRCA2):c.4285C>G (p.Gln1429Glu) SNV
Germline		 Chr13:32338640 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358665

2 SubmittersRCV001217397RCV003158516
NM_000059.4(BRCA2):c.4424T>C (p.Met1475Thr) SNV
Germline		 Chr13:32338779 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072503948

2 SubmittersRCV001224465RCV003158545
NM_000059.4(BRCA2):c.4457T>G (p.Val1486Gly) SNV
Germline		 Chr13:32338812 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072504759

4 SubmittersRCV001218272RCV001751411RCV003158518
NM_000059.4(BRCA2):c.4559C>T (p.Thr1520Ile) SNV
Germline		 Chr13:32338914 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_747993489

2 SubmittersRCV001217101RCV003158513
NM_000059.4(BRCA2):c.4579G>C (p.Ala1527Pro) SNV
Germline		 Chr13:32338934 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_879254071

3 SubmittersRCV001215640RCV003158505
NM_000059.4(BRCA2):c.4682A>G (p.His1561Arg) SNV
Germline		 Chr13:32339037 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072510587

2 SubmittersRCV001216320RCV003158510
NM_000059.4(BRCA2):c.4769A>G (p.Lys1590Arg) SNV
Germline		 Chr13:32339124 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072512459

3 SubmittersRCV001223675RCV002339592
NM_000059.4(BRCA2):c.5281G>A (p.Gly1761Arg) SNV
Germline		 Chr13:32339636 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_886038122

3 SubmittersRCV001216529RCV002348721
NM_000059.4(BRCA2):c.5352C>A (p.Asn1784Lys) SNV
Germline		 Chr13:32339707 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555284187

4 SubmittersRCV001222103RCV002249810RCV003158531
NM_000059.4(BRCA2):c.5507A>G (p.Asn1836Ser) SNV
Germline		 Chr13:32339862 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358773

2 SubmittersRCV001215253RCV003158501
NM_000059.4(BRCA2):c.5623A>C (p.Lys1875Gln) SNV
Germline		 Chr13:32339978 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_886040600

3 SubmittersRCV001223378RCV002348748
NM_000059.4(BRCA2):c.5652T>G (p.Ile1884Met) SNV
Germline		 Chr13:32340007 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_766067138

4 SubmittersRCV001215269RCV002348718RCV004010704
NM_000059.4(BRCA2):c.5816T>A (p.Leu1939Ter) SNV
Germline		 Chr13:32340171 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2072539219

1 SubmittersRCV001225152
NM_000059.4(BRCA2):c.5994A>C (p.Gln1998His) SNV
Germline		 Chr13:32340349 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_554663691

3 SubmittersRCV001221658RCV002356943
NM_000059.4(BRCA2):c.6014A>C (p.Asp2005Ala) SNV
Germline		 Chr13:32340369 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876658259

2 SubmittersRCV001214445RCV003158497
NM_000059.4(BRCA2):c.6014A>T (p.Asp2005Val) SNV
Germline		 Chr13:32340369 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876658259

2 SubmittersRCV001217300RCV003158515
NM_000059.4(BRCA2):c.6070C>G (p.Gln2024Glu) SNV
Germline		 Chr13:32340425 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358844

2 SubmittersRCV001219166RCV003158524
NM_000059.4(BRCA2):c.6141T>A (p.Tyr2047Ter) SNV
Germline		 Chr13:32340496 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1466688245

1 SubmittersRCV001215941
NM_000059.4(BRCA2):c.6179C>T (p.Thr2060Ile) SNV
Germline		 Chr13:32340534 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072548301

2 SubmittersRCV001216567RCV003158512
NM_000059.4(BRCA2):c.6236T>C (p.Val2079Ala) SNV
Germline		 Chr13:32340591 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_864622757

3 SubmittersRCV001219811RCV002365994
NM_000059.4(BRCA2):c.6364A>G (p.Met2122Val) SNV
Germline		 Chr13:32340719 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072553442

3 SubmittersRCV001218990RCV003158523
NM_000059.4(BRCA2):c.6374C>A (p.Thr2125Asn) SNV
Germline		 Chr13:32340729 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_776937022

4 SubmittersRCV001218388RCV001751413RCV002365988
NM_000059.4(BRCA2):c.6401A>G (p.Asn2134Ser) SNV
Germline		 Chr13:32340756 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2072554340

4 SubmittersRCV001222213RCV002365998RCV003490134
NM_000059.4(BRCA2):c.6457C>T (p.Pro2153Ser) SNV
Germline		 Chr13:32340812 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072556359

2 SubmittersRCV001223775RCV003158542
NM_000059.4(BRCA2):c.6726T>A (p.Asp2242Glu) SNV
Germline		 Chr13:32341081 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072563704

2 SubmittersRCV001224990RCV003158550
NM_007294.4(BRCA1):c.4391C>G (p.Pro1464Arg) SNV
Germline		 Chr17:43076581 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_2052738000

3 SubmittersRCV001215363RCV001800970RCV003316833
NM_007294.4(BRCA1):c.4091A>C (p.Asn1364Thr) SNV
Germline		 Chr17:43091440 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_765156052

3 SubmittersRCV001222256RCV001806058
NM_007294.4(BRCA1):c.4027G>C (p.Asp1343His) SNV
Germline		 Chr17:43091504 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1160287128

2 SubmittersRCV001223562RCV003158541
NM_007294.4(BRCA1):c.3994G>C (p.Gly1332Arg) SNV
Germline		 Chr17:43091537 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053488210

2 SubmittersRCV001222187RCV003158532
NM_007294.4(BRCA1):c.3806A>G (p.Asp1269Gly) SNV
Germline		 Chr17:43091725 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053520234

2 SubmittersRCV001218834RCV003158520
NM_007294.4(BRCA1):c.3677T>C (p.Phe1226Ser) SNV
Germline		 Chr17:43091854 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1396926041

2 SubmittersRCV001222760RCV003158538
NM_007294.4(BRCA1):c.3667C>G (p.Leu1223Val) SNV
Germline		 Chr17:43091864 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555587309

3 SubmittersRCV001225218RCV002451530
NM_007294.4(BRCA1):c.3590A>T (p.His1197Leu) SNV
Germline		 Chr17:43091941 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053559788

3 SubmittersRCV001221139RCV002451511
NM_007294.4(BRCA1):c.3585T>A (p.His1195Gln) SNV
Germline		 Chr17:43091946 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053561125

4 SubmittersRCV001216829RCV001524003
NM_007294.4(BRCA1):c.3340G>A (p.Glu1114Lys) SNV
Germline		 Chr17:43092191 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357278

2 SubmittersRCV001220988RCV003158528
NM_007294.4(BRCA1):c.3337T>G (p.Tyr1113Asp) SNV
Germline		 Chr17:43092194 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053606087

2 SubmittersRCV001223019RCV003158540
NM_007294.4(BRCA1):c.3185G>C (p.Gly1062Ala) SNV
Germline		 Chr17:43092346 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507211

2 SubmittersRCV001222330RCV003158533
NM_007294.4(BRCA1):c.3125G>A (p.Ser1042Asn) SNV
Germline		 Chr17:43092406 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_767217821

2 SubmittersRCV001224957RCV003158549
NM_007294.4(BRCA1):c.2822A>C (p.Asn941Thr) SNV
Germline		 Chr17:43092709 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_776512377

2 SubmittersRCV001224237RCV003158543
NM_007294.4(BRCA1):c.2607T>A (p.Phe869Leu) SNV
Germline		 Chr17:43092924 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053730454

2 SubmittersRCV001221198RCV003158529
NM_007294.4(BRCA1):c.2486T>G (p.Phe829Cys) SNV
Germline		 Chr17:43093045 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053753019

2 SubmittersRCV001224782RCV003158547
NM_007294.4(BRCA1):c.2432C>G (p.Pro811Arg) SNV
Germline		 Chr17:43093099 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053761478

2 SubmittersRCV001224550RCV003158546
NM_007294.4(BRCA1):c.2407A>G (p.Ser803Gly) SNV
Germline		 Chr17:43093124 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053766204

2 SubmittersRCV001215911RCV003158507
NM_007294.4(BRCA1):c.2363T>A (p.Val788Asp) SNV
Germline		 Chr17:43093168 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053773275

2 SubmittersRCV001216013RCV003158508
NM_007294.4(BRCA1):c.2246A>G (p.Asp749Gly) SNV
Germline		 Chr17:43093285 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_730881479

2 SubmittersRCV001218881RCV003158522
NM_007294.4(BRCA1):c.2221T>C (p.Ser741Pro) SNV
Germline		 Chr17:43093310 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053800581

2 SubmittersRCV001215618RCV003158504
NM_007294.4(BRCA1):c.1876G>A (p.Val626Ile) SNV
Germline		 Chr17:43093655 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053869047

2 SubmittersRCV001217671RCV003158517
NM_007294.4(BRCA1):c.1862A>G (p.His621Arg) SNV
Germline		 Chr17:43093669 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053871006

2 SubmittersRCV001222675RCV003158537
NM_007294.4(BRCA1):c.1781T>C (p.Met594Thr) SNV
Germline		 Chr17:43093750 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053884703

2 SubmittersRCV001221601RCV003158530
NM_007294.4(BRCA1):c.1663A>G (p.Asn555Asp) SNV
Germline		 Chr17:43093868 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053904001

2 SubmittersRCV001215600RCV003158503
NM_007294.4(BRCA1):c.1651A>C (p.Ser551Arg) SNV
Germline		 Chr17:43093880 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_730881472

2 SubmittersRCV001222674RCV003158536
NM_007294.4(BRCA1):c.1265A>G (p.Tyr422Cys) SNV
Germline		 Chr17:43094266 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567800230

2 SubmittersRCV001224795RCV003158548
NM_007294.4(BRCA1):c.1094G>A (p.Arg365Lys) SNV
Germline		 Chr17:43094437 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053994698

2 SubmittersRCV001219425RCV003158526
NM_007294.4(BRCA1):c.974A>C (p.Lys325Thr) SNV
Germline		 Chr17:43094557 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054013870

2 SubmittersRCV001219277RCV003158525
NM_007294.4(BRCA1):c.575A>G (p.Asn192Ser) SNV
Germline		 Chr17:43097262 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_2054178411

3 SubmittersRCV001217608RCV001524004RCV004034038
NM_001844.5(COL2A1):c.578G>A (p.Gly193Asp) SNV
Germline		 Chr12:47996579 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_764878166

3 SubmittersRCV001212399RCV001374535
NM_000059.4(BRCA2):c.991A>G (p.Lys331Glu) SNV
Germline		 Chr13:32332469 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072402052

2 SubmittersRCV001208883RCV003158479
NM_000059.4(BRCA2):c.1411G>A (p.Glu471Lys) SNV
Germline		 Chr13:32332889 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_80358428

4 SubmittersRCV001204054RCV003158458RCV003483786
NM_000059.4(BRCA2):c.1499G>A (p.Gly500Asp) SNV
Germline		 Chr13:32332977 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1064795525

3 SubmittersRCV001213280RCV002393487
NM_000059.4(BRCA2):c.1521A>C (p.Arg507Ser) SNV
Germline		 Chr13:32332999 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072415404

2 SubmittersRCV001210401RCV003158487
NM_000059.4(BRCA2):c.1525A>G (p.Arg509Gly) SNV
Germline		 Chr13:32333003 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072415459

2 SubmittersRCV001210274RCV003158486
NM_000059.4(BRCA2):c.1672A>G (p.Ile558Val) SNV
Germline		 Chr13:32333150 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_759415233

3 SubmittersRCV001210478RCV001354726RCV003158488
NM_000059.4(BRCA2):c.1787A>T (p.Asp596Val) SNV
Germline		 Chr13:32333265 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072422145

2 SubmittersRCV001210583RCV003158489
NM_000059.4(BRCA2):c.1804G>T (p.Gly602Ter) SNV
Germline		 Chr13:32333282 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_80358466

2 SubmittersRCV001212973
NM_000059.4(BRCA2):c.1895C>T (p.Ala632Val) SNV
Germline		 Chr13:32333373 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876659192

2 SubmittersRCV001208817RCV003158478
NM_000059.4(BRCA2):c.1921T>G (p.Ser641Ala) SNV
Germline		 Chr13:32336276 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072446928

2 SubmittersRCV001207935RCV003158476
NM_000059.4(BRCA2):c.2102T>C (p.Phe701Ser) SNV
Germline		 Chr13:32336457 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1045996745

2 SubmittersRCV001207811RCV003158475
NM_000059.4(BRCA2):c.2180C>T (p.Ser727Leu) SNV
Germline		 Chr13:32336535 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072451958

2 SubmittersRCV001201920RCV003158451
NM_000059.4(BRCA2):c.2195A>C (p.Glu732Ala) SNV
Germline		 Chr13:32336550 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1456382766

2 SubmittersRCV001204823RCV003158459
NM_000059.4(BRCA2):c.2204C>G (p.Ala735Gly) SNV
Germline		 Chr13:32336559 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072452438

2 SubmittersRCV001206637RCV003158468
NM_000059.4(BRCA2):c.2255A>G (p.Asp752Gly) SNV
Germline		 Chr13:32336610 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072453670

2 SubmittersRCV001206421RCV003158465
NM_000059.4(BRCA2):c.2424A>T (p.Glu808Asp) SNV
Germline		 Chr13:32336779 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_55646808

2 SubmittersRCV001210851RCV003158490
NM_000059.4(BRCA2):c.2768A>G (p.Lys923Arg) SNV
Germline		 Chr13:32337123 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072464367

2 SubmittersRCV001205501RCV003158464
NM_000059.4(BRCA2):c.2991A>T (p.Leu997Phe) SNV
Germline		 Chr13:32337346 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072469915

2 SubmittersRCV001207319RCV003158473
NM_000059.4(BRCA2):c.3347C>T (p.Thr1116Ile) SNV
Germline		 Chr13:32337702 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072478227

2 SubmittersRCV001210074RCV003158484
NM_000059.4(BRCA2):c.3434C>G (p.Pro1145Arg) SNV
Germline		 Chr13:32337789 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_431825306

2 SubmittersRCV001202110RCV003158453
NM_000059.4(BRCA2):c.3543A>C (p.Gln1181His) SNV
Germline		 Chr13:32337898 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072483286

2 SubmittersRCV001202037RCV003158452
NM_000059.4(BRCA2):c.3610G>A (p.Ala1204Thr) SNV
Germline		 Chr13:32337965 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283309

3 SubmittersRCV001206670RCV002451440
NM_000059.4(BRCA2):c.3797A>G (p.His1266Arg) SNV
Germline		 Chr13:32338152 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1555283399

6 SubmittersRCV001207278RCV002298904RCV002365936RCV004010661
NM_000059.4(BRCA2):c.3902C>A (p.Thr1301Asn) SNV
Germline		 Chr13:32338257 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1455648880

2 SubmittersRCV001212872RCV003158494
NM_000059.4(BRCA2):c.3902C>G (p.Thr1301Ser) SNV
Germline		 Chr13:32338257 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1455648880

3 SubmittersRCV001204935RCV001354573RCV003158461
NM_000059.4(BRCA2):c.4118T>G (p.Met1373Arg) SNV
Germline		 Chr13:32338473 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_750581150

3 SubmittersRCV001202124RCV003158454RCV003493819
NM_000059.4(BRCA2):c.4325C>T (p.Ser1442Leu) SNV
Germline		 Chr13:32338680 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_80358670

3 SubmittersRCV001202653RCV003158455RCV004010622
NM_000059.4(BRCA2):c.4487C>T (p.Pro1496Leu) SNV
Germline		 Chr13:32338842 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072505667

3 SubmittersRCV001212743RCV002327493
NM_000059.4(BRCA2):c.4613C>T (p.Ser1538Phe) SNV
Germline		 Chr13:32338968 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_754643404

3 SubmittersRCV001213012RCV002339551
NM_000059.4(BRCA2):c.4741G>C (p.Glu1581Gln) SNV
Germline		 Chr13:32339096 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_368952892

3 SubmittersRCV001212351RCV002327491
NM_000059.4(BRCA2):c.4945A>G (p.Lys1649Glu) SNV
Germline		 Chr13:32339300 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_763743962

3 SubmittersRCV001211056RCV003158491
NM_000059.4(BRCA2):c.4970A>C (p.Asn1657Thr) SNV
Germline		 Chr13:32339325 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060502382

2 SubmittersRCV001209940RCV003158483
NM_000059.4(BRCA2):c.5060T>G (p.Leu1687Arg) SNV
Germline		 Chr13:32339415 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072519361

2 SubmittersRCV001208945RCV003158480
NM_000059.4(BRCA2):c.5111G>T (p.Arg1704Ile) SNV
Germline		 Chr13:32339466 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072520513

3 SubmittersRCV001206761RCV003158469RCV004010652
NM_000059.4(BRCA2):c.5852G>A (p.Ser1951Asn) SNV
Germline		 Chr13:32340207 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072540017

2 SubmittersRCV001204904RCV003158460
NM_000059.4(BRCA2):c.5971G>A (p.Ala1991Thr) SNV
Germline		 Chr13:32340326 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072543048

3 SubmittersRCV001206768RCV003158470
NM_000059.4(BRCA2):c.6069C>G (p.Asp2023Glu) SNV
Germline		 Chr13:32340424 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072545456

2 SubmittersRCV001207309RCV003158472
NM_000059.4(BRCA2):c.6278A>C (p.His2093Pro) SNV
Germline		 Chr13:32340633 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1218113889

3 SubmittersRCV001202763RCV001806041
NM_000059.4(BRCA2):c.6286C>A (p.Pro2096Thr) SNV
Germline		 Chr13:32340641 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1309257585

2 SubmittersRCV001205243RCV003158463
NM_000059.4(BRCA2):c.6389T>G (p.Phe2130Cys) SNV
Germline		 Chr13:32340744 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2072554002

5 SubmittersRCV001211650RCV001525351RCV001586053
NM_000059.4(BRCA2):c.6549A>T (p.Glu2183Asp) SNV
Germline		 Chr13:32340904 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072559314

3 SubmittersRCV001206498RCV003158466RCV004010648
NM_000059.4(BRCA2):c.6556T>A (p.Ser2186Thr) SNV
Germline		 Chr13:32340911 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072559530

5 SubmittersRCV001209383RCV002365943RCV002265008RCV004010673
NM_000059.4(BRCA2):c.8777T>G (p.Leu2926Ter) SNV
Germline		 Chr13:32379339 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_886040791

2 SubmittersRCV001210794RCV002375159
NM_000059.4(BRCA2):c.9678T>A (p.Tyr3226Ter) SNV
Germline		 Chr13:32398191 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2073049381

3 SubmittersRCV001206017RCV002375140RCV003480990
NM_007294.4(BRCA1):c.4606G>T (p.Glu1536Ter) SNV
Germline		 Chr17:43074400 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_876660460

1 SubmittersRCV001204590
NM_007294.4(BRCA1):c.4038A>C (p.Glu1346Asp) SNV
Germline		 Chr17:43091493 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053480824

2 SubmittersRCV001205160RCV003158462
NM_007294.4(BRCA1):c.3926A>G (p.Asn1309Ser) SNV
Germline		 Chr17:43091605 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053499342

2 SubmittersRCV001212411RCV003158493
NM_007294.4(BRCA1):c.3674G>A (p.Cys1225Tyr) SNV
Germline		 Chr17:43091857 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567790638

3 SubmittersRCV001208979RCV002348682
NM_007294.4(BRCA1):c.3579C>G (p.Phe1193Leu) SNV
Germline		 Chr17:43091952 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053562704

2 SubmittersRCV001207452RCV003158474
NM_007294.4(BRCA1):c.3554A>G (p.Glu1185Gly) SNV
Germline		 Chr17:43091977 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053566295

2 SubmittersRCV001206504RCV003158467
NM_007294.4(BRCA1):c.3166T>G (p.Ser1056Ala) SNV
Germline		 Chr17:43092365 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876659601

3 SubmittersRCV001209804RCV002322025
NM_007294.4(BRCA1):c.3028C>A (p.Pro1010Thr) SNV
Germline		 Chr17:43092503 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1057519249

2 SubmittersRCV001202772RCV003158456
NM_007294.4(BRCA1):c.2672C>A (p.Ser891Tyr) SNV
Germline		 Chr17:43092859 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053717743

2 SubmittersRCV001212219RCV003158492
NM_007294.4(BRCA1):c.2608G>C (p.Ala870Pro) SNV
Germline		 Chr17:43092923 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_753256448

8 SubmittersRCV001206620RCV001255590RCV001760171RCV002429883RCV003316832
NM_007294.4(BRCA1):c.2482G>C (p.Gly828Arg) SNV
Germline		 Chr17:43093049 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357185

2 SubmittersRCV001203169RCV003158457
NM_007294.4(BRCA1):c.2005A>G (p.Met669Val) SNV
Germline		 Chr17:43093526 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_561988641

5 SubmittersRCV001201414RCV001528872RCV003158450
NM_007294.4(BRCA1):c.1843T>G (p.Ser615Ala) SNV
Germline		 Chr17:43093688 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1384752453

2 SubmittersRCV001208469RCV003158477
NM_007294.4(BRCA1):c.1658A>G (p.His553Arg) SNV
Germline		 Chr17:43093873 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_748431827

3 SubmittersRCV001213831RCV001732072RCV003158496
NM_007294.4(BRCA1):c.1570G>A (p.Ala524Thr) SNV
Germline		 Chr17:43093961 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_761178502

2 SubmittersRCV001210202RCV003158485
NM_007294.4(BRCA1):c.1567T>G (p.Leu523Val) SNV
Germline		 Chr17:43093964 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_754398271

3 SubmittersRCV001206370RCV002402598
NM_007294.4(BRCA1):c.1009G>C (p.Glu337Gln) SNV
Germline		 Chr17:43094522 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054008789

3 SubmittersRCV001209608RCV003158482
NM_007294.4(BRCA1):c.970A>G (p.Ser324Gly) SNV
Germline		 Chr17:43094561 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054014425

2 SubmittersRCV001213070RCV003158495
NM_000059.4(BRCA2):c.-40+1G>A SNV
Germline		 Chr13:32315668 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072249096

2 SubmittersRCV001209736RCV003163590
NM_000059.4(BRCA2):c.1909+4C>A SNV
Germline		 Chr13:32333391 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_768978701

4 SubmittersRCV001203826RCV002411747RCV003316831
NM_000059.4(BRCA2):c.8754+5G>C SNV
Germline		 Chr13:32376796 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_81002813

3 SubmittersRCV001209759RCV002375153RCV003478734
NM_000059.4(BRCA2):c.6938-1G>C SNV
Germline		 Chr13:32346826 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_886040936

2 SubmittersRCV001216246RCV001780136
NM_000059.4(BRCA2):c.916G>A (p.Asp306Asn) SNV
Germline		 Chr13:32332394 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_781169306

3 SubmittersRCV001226613RCV002375224
NM_000059.4(BRCA2):c.1001A>T (p.His334Leu) SNV
Germline		 Chr13:32332479 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782016

2 SubmittersRCV001236605RCV003158591
NM_000059.4(BRCA2):c.1184G>T (p.Trp395Leu) SNV
Germline		 Chr13:32332662 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_886040347

3 SubmittersRCV001236953RCV003158593RCV004004869
NM_000059.4(BRCA2):c.1291A>G (p.Thr431Ala) SNV
Germline		 Chr13:32332769 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_864622399

2 SubmittersRCV001236245RCV003158590
NM_000059.4(BRCA2):c.1515A>G (p.Ile505Met) SNV
Germline		 Chr13:32332993 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1049893722

3 SubmittersRCV001237936RCV003158594
NM_000059.4(BRCA2):c.1703C>T (p.Thr568Ile) SNV
Germline		 Chr13:32333181 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072420088

3 SubmittersRCV001226846RCV001526295
NM_000059.4(BRCA2):c.1918C>A (p.His640Asn) SNV
Germline		 Chr13:32336273 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072446918

4 SubmittersRCV001225934RCV002411834RCV003493825
NM_000059.4(BRCA2):c.2305C>T (p.Leu769Phe) SNV
Germline		 Chr13:32336660 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072454785

4 SubmittersRCV001237292RCV001800974RCV002447185
NM_000059.4(BRCA2):c.2315C>G (p.Thr772Ser) SNV
Germline		 Chr13:32336670 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1064794522

2 SubmittersRCV001231940RCV003158579
NM_000059.4(BRCA2):c.2384C>G (p.Ser795Ter) SNV
Germline		 Chr13:32336739 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2072456490

1 SubmittersRCV001236416
NM_000059.4(BRCA2):c.2444T>A (p.Met815Lys) SNV
Germline		 Chr13:32336799 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1303254121

2 SubmittersRCV001229825RCV003158575
NM_000059.4(BRCA2):c.2696A>G (p.Asn899Ser) SNV
Germline		 Chr13:32337051 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072463113

2 SubmittersRCV001228884RCV003158569
NM_000059.4(BRCA2):c.2717C>T (p.Thr906Ile) SNV
Germline		 Chr13:32337072 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072463461

2 SubmittersRCV001225382RCV003158551
NM_000059.4(BRCA2):c.2941A>G (p.Lys981Glu) SNV
Germline		 Chr13:32337296 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072468449

3 SubmittersRCV001229305RCV003158572RCV003234792
NM_000059.4(BRCA2):c.3050T>C (p.Ile1017Thr) SNV
Germline		 Chr13:32337405 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072470949

2 SubmittersRCV001228374RCV003158564
NM_000059.4(BRCA2):c.3191C>T (p.Ser1064Leu) SNV
Germline		 Chr13:32337546 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_864622609

2 SubmittersRCV001226248RCV003158553
NM_000059.4(BRCA2):c.3236C>T (p.Ser1079Phe) SNV
Germline		 Chr13:32337591 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072475650

2 SubmittersRCV001233454RCV003158582
NM_000059.4(BRCA2):c.3412C>A (p.Gln1138Lys) SNV
Germline		 Chr13:32337767 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782613

2 SubmittersRCV001233514RCV003158583
NM_000059.4(BRCA2):c.3424T>C (p.Phe1142Leu) SNV
Germline		 Chr13:32337779 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072480095

3 SubmittersRCV001227125RCV003158558
NM_000059.4(BRCA2):c.3634A>G (p.Asn1212Asp) SNV
Germline		 Chr13:32337989 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072485059

3 SubmittersRCV001227865RCV001586072RCV003158562
NM_000059.4(BRCA2):c.3671G>A (p.Gly1224Asp) SNV
Germline		 Chr13:32338026 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782670

4 SubmittersRCV001231228RCV001800972RCV003158577
NM_000059.4(BRCA2):c.3822G>C (p.Lys1274Asn) SNV
Germline		 Chr13:32338177 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283410

2 SubmittersRCV001227600RCV003158560
NM_000059.4(BRCA2):c.3907G>A (p.Gly1303Ser) SNV
Germline		 Chr13:32338262 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072491499

2 SubmittersRCV001228490RCV003158565
NM_000059.4(BRCA2):c.4197T>A (p.Cys1399Ter) SNV
Germline		 Chr13:32338552 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1339703491

3 SubmittersRCV001226711RCV002327540RCV004004815
NM_000059.4(BRCA2):c.4234A>C (p.Thr1412Pro) SNV
Germline		 Chr13:32338589 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072499447

2 SubmittersRCV001227720RCV003158561
NM_000059.4(BRCA2):c.4297G>T (p.Gly1433Trp) SNV
Germline		 Chr13:32338652 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1036091086

2 SubmittersRCV001233828RCV003158585
NM_000059.4(BRCA2):c.4311T>G (p.Ser1437Arg) SNV
Germline		 Chr13:32338666 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1228813196

2 SubmittersRCV001228632RCV003158566
NM_000059.4(BRCA2):c.4321G>A (p.Glu1441Lys) SNV
Germline		 Chr13:32338676 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876659758

3 SubmittersRCV001236874RCV002327569
NM_000059.4(BRCA2):c.4803T>G (p.Asp1601Glu) SNV
Germline		 Chr13:32339158 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_772234613

2 SubmittersRCV001232096RCV003158580
NM_000059.4(BRCA2):c.5039C>T (p.Ser1680Phe) SNV
Germline		 Chr13:32339394 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555284041

2 SubmittersRCV001227363RCV003158559
NM_000059.4(BRCA2):c.5317G>T (p.Glu1773Ter) SNV
Germline		 Chr13:32339672 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566232201

2 SubmittersRCV001238188RCV002348807
NM_000059.4(BRCA2):c.5530T>A (p.Phe1844Ile) SNV
Germline		 Chr13:32339885 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072531391

2 SubmittersRCV001228995RCV003158571
NM_000059.4(BRCA2):c.5791C>G (p.Gln1931Glu) SNV
Germline		 Chr13:32340146 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358807

2 SubmittersRCV001228751RCV003158568
NM_000059.4(BRCA2):c.5843G>A (p.Cys1948Tyr) SNV
Germline		 Chr13:32340198 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_757148516

2 SubmittersRCV001238093RCV003158595
NM_000059.4(BRCA2):c.5971G>C (p.Ala1991Pro) SNV
Germline		 Chr13:32340326 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072543048

2 SubmittersRCV001226312RCV003158554
NM_000059.4(BRCA2):c.6265G>A (p.Glu2089Lys) SNV
Germline		 Chr13:32340620 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072550502

2 SubmittersRCV001232437RCV003158581
NM_000059.4(BRCA2):c.6323G>C (p.Arg2108Pro) SNV
Germline		 Chr13:32340678 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_35029074

2 SubmittersRCV001231884RCV003158578
NM_000059.4(BRCA2):c.6451G>A (p.Val2151Ile) SNV
Germline		 Chr13:32340806 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1164384033

2 SubmittersRCV001234566RCV003158586
NM_000059.4(BRCA2):c.6470A>G (p.Gln2157Arg) SNV
Germline		 Chr13:32340825 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1456778960

4 SubmittersRCV001237654RCV001751468RCV002366048
NM_000059.4(BRCA2):c.6483C>A (p.Asp2161Glu) SNV
Germline		 Chr13:32340838 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072557146

3 SubmittersRCV001231010RCV002356992
NM_007294.4(BRCA1):c.4516G>A (p.Asp1506Asn) SNV
Germline		 Chr17:43074490 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2052614346

2 SubmittersRCV001227201RCV003284083
NM_007294.4(BRCA1):c.3997G>T (p.Val1333Phe) SNV
Germline		 Chr17:43091534 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053487730

2 SubmittersRCV001236904RCV003158592
NM_007294.4(BRCA1):c.3895C>G (p.Gln1299Glu) SNV
Germline		 Chr17:43091636 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357038

2 SubmittersRCV001230912RCV003158576
NM_007294.4(BRCA1):c.3655G>C (p.Glu1219Gln) SNV
Germline		 Chr17:43091876 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80356921

2 SubmittersRCV001234952RCV003158587
NM_007294.4(BRCA1):c.3590A>G (p.His1197Arg) SNV
Germline		 Chr17:43091941 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053559788

3 SubmittersRCV001229331RCV002451538
NM_007294.4(BRCA1):c.3448C>A (p.Pro1150Thr) SNV
Germline		 Chr17:43092083 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357272

2 SubmittersRCV001226007RCV003158552
NM_007294.4(BRCA1):c.3442G>A (p.Glu1148Lys) SNV
Germline		 Chr17:43092089 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_886038012

2 SubmittersRCV001229494RCV003158573
NM_007294.4(BRCA1):c.3417T>G (p.Ser1139Arg) SNV
Germline		 Chr17:43092114 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053590409

2 SubmittersRCV001228963RCV003158570
NM_007294.4(BRCA1):c.3135T>G (p.Asn1045Lys) SNV
Germline		 Chr17:43092396 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053637366

2 SubmittersRCV001226829RCV003158556
NM_007294.4(BRCA1):c.3020C>A (p.Ser1007Ter) SNV
Germline		 Chr17:43092511 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_80357168

1 SubmittersRCV001228447
NM_007294.4(BRCA1):c.2684A>C (p.Gln895Pro) SNV
Germline		 Chr17:43092847 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587781914

3 SubmittersRCV001231012RCV002451544
NM_007294.4(BRCA1):c.2646T>G (p.Cys882Trp) SNV
Germline		 Chr17:43092885 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053723557

2 SubmittersRCV001229736RCV003158574
NM_007294.4(BRCA1):c.2624C>G (p.Pro875Arg) SNV
Germline		 Chr17:43092907 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_867654871

2 SubmittersRCV001238594RCV003158597
NM_007294.4(BRCA1):c.2471A>T (p.Asn824Ile) SNV
Germline		 Chr17:43093060 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1485586275

3 SubmittersRCV001238090RCV002451577
NM_007294.4(BRCA1):c.2301C>A (p.Ser767Arg) SNV
Germline		 Chr17:43093230 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053785413

2 SubmittersRCV001228271RCV003158563
NM_007294.4(BRCA1):c.2200A>G (p.Lys734Glu) SNV
Germline		 Chr17:43093331 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053806415

2 SubmittersRCV001228721RCV003158567
NM_007294.4(BRCA1):c.2140A>C (p.Asn714His) SNV
Germline		 Chr17:43093391 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_568312345

3 SubmittersRCV001238517RCV002430019
NM_007294.4(BRCA1):c.1825A>T (p.Asn609Tyr) SNV
Germline		 Chr17:43093706 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053878598

2 SubmittersRCV001233565RCV003158584
NM_007294.4(BRCA1):c.1573G>C (p.Val525Leu) SNV
Germline		 Chr17:43093958 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357273

3 SubmittersRCV001227431RCV002402711
NM_007294.4(BRCA1):c.1351T>G (p.Ser451Ala) SNV
Germline		 Chr17:43094180 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053952551

2 SubmittersRCV001235619RCV003158589
NM_007294.4(BRCA1):c.1294C>A (p.Leu432Met) SNV
Germline		 Chr17:43094237 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_864622454

2 SubmittersRCV001234969RCV003158588
NM_007294.4(BRCA1):c.1192T>G (p.Ser398Ala) SNV
Germline		 Chr17:43094339 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053980032

3 SubmittersRCV001227078RCV003158557
NM_007294.4(BRCA1):c.1006A>G (p.Thr336Ala) SNV
Germline		 Chr17:43094525 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054009524

2 SubmittersRCV001226417RCV003158555
NM_007294.4(BRCA1):c.844T>C (p.Ser282Pro) SNV
Germline		 Chr17:43094687 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054037292

2 SubmittersRCV001238386RCV003158596
NM_007294.4(BRCA1):c.328A>T (p.Lys110Ter) SNV
Germline		 Chr17:43104235 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_878854946

1 SubmittersRCV001237020
NM_000059.4(BRCA2):c.895G>A (p.Val299Ile) SNV
Germline		 Chr13:32332373 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072399652

3 SubmittersRCV001246440RCV003158621
NM_000059.4(BRCA2):c.994A>G (p.Ile332Val) SNV
Germline		 Chr13:32332472 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072402170

2 SubmittersRCV001246971RCV003158623
NM_000059.4(BRCA2):c.1604C>G (p.Ala535Gly) SNV
Germline		 Chr13:32333082 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593893344

2 SubmittersRCV001241703RCV003158607
NM_000059.4(BRCA2):c.2260C>G (p.Gln754Glu) SNV
Germline		 Chr13:32336615 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358496

3 SubmittersRCV001241490RCV002447201
NM_000059.4(BRCA2):c.2701C>A (p.Leu901Ile) SNV
Germline		 Chr13:32337056 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072463186

2 SubmittersRCV001241443RCV003158605
NM_000059.4(BRCA2):c.2855C>G (p.Ala952Gly) SNV
Germline		 Chr13:32337210 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_761934778

2 SubmittersRCV001246173RCV003158618
NM_000059.4(BRCA2):c.2966A>T (p.Tyr989Phe) SNV
Germline		 Chr13:32337321 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072469321

2 SubmittersRCV001241521RCV003158606
NM_000059.4(BRCA2):c.3241T>A (p.Cys1081Ser) SNV
Germline		 Chr13:32337596 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283117

2 SubmittersRCV001247752RCV003158627
NM_000059.4(BRCA2):c.3491T>C (p.Leu1164Pro) SNV
Germline		 Chr13:32337846 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_746847103

2 SubmittersRCV001243264RCV003158610
NM_000059.4(BRCA2):c.3514T>A (p.Ser1172Thr) SNV
Germline		 Chr13:32337869 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1593899773

3 SubmittersRCV001248169RCV003158629RCV004004913
NM_000059.4(BRCA2):c.3599G>C (p.Cys1200Ser) SNV
Germline		 Chr13:32337954 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283305

3 SubmittersRCV001247241RCV002451609
NM_000059.4(BRCA2):c.3706A>C (p.Lys1236Gln) SNV
Germline		 Chr13:32338061 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283367

2 SubmittersRCV001244473RCV003158613
NM_000059.4(BRCA2):c.3861T>A (p.Asn1287Lys) SNV
Germline		 Chr13:32338216 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072490377

2 SubmittersRCV001241724RCV003158608
NM_000059.4(BRCA2):c.3911C>T (p.Thr1304Ile) SNV
Germline		 Chr13:32338266 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283472

2 SubmittersRCV001241218RCV003158604
NM_000059.4(BRCA2):c.4274A>T (p.Asp1425Val) SNV
Germline		 Chr13:32338629 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122780

3 SubmittersRCV001240260RCV002327579
NM_000059.4(BRCA2):c.4289C>G (p.Thr1430Ser) SNV
Germline		 Chr13:32338644 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876659247

2 SubmittersRCV001242728RCV003158609
NM_000059.4(BRCA2):c.4461A>C (p.Lys1487Asn) SNV
Germline		 Chr13:32338816 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786201350

2 SubmittersRCV001240751RCV003158601
NM_000059.4(BRCA2):c.4829T>A (p.Val1610Glu) SNV
Germline		 Chr13:32339184 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072513765

3 SubmittersRCV001244016RCV001819946RCV003158612
NM_000059.4(BRCA2):c.5011T>G (p.Phe1671Val) SNV
Germline		 Chr13:32339366 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072518231

3 SubmittersRCV001247484RCV003158625RCV004004911
NM_000059.4(BRCA2):c.5227A>G (p.Ser1743Gly) SNV
Germline		 Chr13:32339582 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507348

2 SubmittersRCV001239836RCV003158598
NM_000059.4(BRCA2):c.5407A>G (p.Thr1803Ala) SNV
Germline		 Chr13:32339762 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_769627725

3 SubmittersRCV001247305RCV002348843
NM_000059.4(BRCA2):c.5474C>G (p.Ala1825Gly) SNV
Germline		 Chr13:32339829 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified		 Criteria Provided
Conflicting Classifications
 rs_397507352

4 SubmittersRCV001246573RCV003158622RCV003493831RCV003493832
NM_000059.4(BRCA2):c.5705A>G (p.Asp1902Gly) SNV
Germline		 Chr13:32340060 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072536350

2 SubmittersRCV001245899RCV003158617
NM_000059.4(BRCA2):c.6235G>C (p.Val2079Leu) SNV
Germline		 Chr13:32340590 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_886037812

2 SubmittersRCV001245212RCV003158615
NM_000059.4(BRCA2):c.6574A>G (p.Met2192Val) SNV
Germline		 Chr13:32340929 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_926784722

4 SubmittersRCV001239788RCV001806075
NM_000059.4(BRCA2):c.6616A>G (p.Lys2206Glu) SNV
Germline		 Chr13:32340971 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072560749

2 SubmittersRCV001239985RCV003158600
NM_007294.4(BRCA1):c.3774G>C (p.Glu1258Asp) SNV
Germline		 Chr17:43091757 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_431825399

2 SubmittersRCV001243461RCV003158611
NM_007294.4(BRCA1):c.3733A>G (p.Ser1245Gly) SNV
Germline		 Chr17:43091798 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053536157

2 SubmittersRCV001244672RCV003158614
NM_007294.4(BRCA1):c.3631T>G (p.Ser1211Ala) SNV
Germline		 Chr17:43091900 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053553313

2 SubmittersRCV001247686RCV003158626
NM_007294.4(BRCA1):c.3581C>G (p.Thr1194Ser) SNV
Germline		 Chr17:43091950 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357290

3 SubmittersRCV001239884RCV003158599
NM_007294.4(BRCA1):c.3211G>T (p.Glu1071Ter) SNV
Germline		 Chr17:43092320 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_41293445

1 SubmittersRCV001246825
NM_007294.4(BRCA1):c.3049G>A (p.Glu1017Lys) SNV
Germline		 Chr17:43092482 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357004

3 SubmittersRCV001246174RCV003158619
NM_007294.4(BRCA1):c.2476A>G (p.Thr826Ala) SNV
Germline		 Chr17:43093055 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597869768

2 SubmittersRCV001246437RCV003158620
NM_007294.4(BRCA1):c.2318C>T (p.Pro773Leu) SNV
Germline		 Chr17:43093213 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053781755

2 SubmittersRCV001241117RCV003158603
NM_007294.4(BRCA1):c.2314G>T (p.Val772Leu) SNV
Germline		 Chr17:43093217 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567796129

2 SubmittersRCV001248628RCV003158630
NM_007294.4(BRCA1):c.2267G>C (p.Arg756Thr) SNV
Germline		 Chr17:43093264 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_975724885

2 SubmittersRCV001240986RCV003158602
NM_007294.4(BRCA1):c.2111A>G (p.Asn704Ser) SNV
Germline		 Chr17:43093420 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2053824395

4 SubmittersRCV001247952RCV003158628RCV003324824
NM_007294.4(BRCA1):c.4676-3C>T SNV
Germline		 Chr17:43071241 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_2052431362

2 SubmittersRCV001226211RCV004032564
NM_007294.4(BRCA1):c.593+1G>A SNV
Germline		 Chr17:43097243 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Gastric cancer
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1567804153

4 SubmittersRCV001237400RCV001358105RCV003166473RCV003473814
NM_130398.4(EXO1):c.820G>A (p.Gly274Arg) SNV
Germline		 Chr1:241860580 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
EXO1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_149397534

5 SubmittersRCV001374518RCV001573635RCV003918812
NM_003579.4(RAD54L):c.604C>T (p.Arg202Cys) SNV
Germline		 Chr1:46260853 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
RAD54L-related disorder		 Criteria Provided
Conflicting Classifications
 rs_28363218

2 SubmittersRCV001374481RCV003908480
NM_001282597.3(CTNNA2):c.103-1G>A SNV
Germline		 Chr2:79744386 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2104990962

1 SubmittersRCV001374517
NM_000248.4(MITF):c.1A>G (p.Met1Val) SNV
Germline		 Chr3:69936723 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_760273611

1 SubmittersRCV001374510
NM_006424.3(SLC34A2):c.113-2A>G SNV
Germline		 Chr4:25662703 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1714268814

1 SubmittersRCV001374511
NM_001382508.1(DROSHA):c.1498G>T (p.Glu500Ter) SNV
Germline		 Chr5:31508710 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2150052710

1 SubmittersRCV001374505
NM_000264.5(PTCH1):c.454A>G (p.Met152Val) SNV
Germline		 Chr9:95485815 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Gorlin syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_766905791

3 SubmittersRCV001374516RCV001880015RCV004035390
NM_000124.4(ERCC6):c.1801G>A (p.Gly601Ser) SNV
Germline		 Chr10:49493137 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_138758064

4 SubmittersRCV001374496RCV001508657
NM_004985.5(KRAS):c.461A>G (p.Asp154Gly) SNV
Germline		 Chr12:25209901 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2141481712

1 SubmittersRCV001374475
NM_002298.5(LCP1):c.1122C>A (p.Tyr374Ter) SNV
Germline		 Chr13:46146960 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1376923782

1 SubmittersRCV001374476
NM_014567.5(BCAR1):c.12+2T>C SNV
Germline		 Chr16:75251469 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1597262107

1 SubmittersRCV001374512
NM_144997.7(FLCN):c.871+158A>C SNV
Germline		 Chr17:17221379 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
FLCN-related disorder		 Criteria Provided
Conflicting Classifications
 rs_201282009

2 SubmittersRCV001374541RCV003908481
NM_001110556.2(FLNA):c.5965C>T (p.Pro1989Ser) SNV
Germline		 ChrX:154353353 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Frontometaphyseal dysplasia
Melnick-Needles syndrome		 Criteria Provided
Conflicting Classifications
 rs_1557176194

2 SubmittersRCV001374498RCV003770356
NM_000059.4(BRCA2):c.8935A>T (p.Lys2979Ter) SNV
Germline		 Chr13:32379497 Pathogenic/Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2072903033

4 SubmittersRCV001268139RCV003462846RCV003770399
NM_000059.4(BRCA2):c.4321G>T (p.Glu1441Ter) SNV
Germline		 Chr13:32338676 Likely pathogenic Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_876659758

3 SubmittersRCV001355086RCV003473845RCV001269201
NM_024675.4(PALB2):c.2996+2T>C SNV
Germline		 Chr16:23622967 Likely pathogenic Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1966797789

3 SubmittersRCV001269178RCV001377139RCV003478760
NM_007294.4(BRCA1):c.594-10T>C SNV
Germline		 Chr17:43095932 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1044086308

2 SubmittersRCV001269116RCV003645222
NM_000059.4(BRCA2):c.2372C>G (p.Ser791Ter) SNV
Germline		 Chr13:32336727 Pathogenic Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_397507624

4 SubmittersRCV001269874RCV001310174RCV003155971RCV003770410
NM_000059.4(BRCA2):c.893C>A (p.Thr298Lys) SNV
Germline		 Chr13:32332371 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_753067824

4 SubmittersRCV001284596RCV001368493RCV003158653
NM_000059.4(BRCA2):c.922T>C (p.Phe308Leu) SNV
Germline		 Chr13:32332400 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_921111470

3 SubmittersRCV001283948RCV001871651RCV003158639
NM_000059.4(BRCA2):c.1037A>C (p.Asn346Thr) SNV
Germline		 Chr13:32332515 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786202042

3 SubmittersRCV001284068RCV001345310RCV003158640
NM_000059.4(BRCA2):c.1688G>A (p.Trp563Ter) SNV
Germline		 Chr13:32333166 Pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566224110

3 SubmittersRCV001284414RCV001382281RCV002411928
NM_000059.4(BRCA2):c.3364G>A (p.Gly1122Arg) SNV
Germline		 Chr13:32337719 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072478647

3 SubmittersRCV001284564RCV001871660RCV003158651
NM_000059.4(BRCA2):c.4037C>G (p.Thr1346Ser) SNV
Germline		 Chr13:32338392 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283519

3 SubmittersRCV001284421RCV001360014RCV003158643
NM_000059.4(BRCA2):c.4510G>T (p.Val1504Leu) SNV
Germline		 Chr13:32338865 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072506082

4 SubmittersRCV001284565RCV002339710RCV002542969
NM_000059.4(BRCA2):c.4660A>G (p.Ser1554Gly) SNV
Germline		 Chr13:32339015 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072510232

3 SubmittersRCV001284572RCV001871661RCV003158652
NM_000059.4(BRCA2):c.4967C>T (p.Thr1656Ile) SNV
Germline		 Chr13:32339322 Conflicting classifications of pathogenicity Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876659777

4 SubmittersRCV001284087RCV002268463RCV002542966RCV003158641
NM_000059.4(BRCA2):c.6319C>T (p.Pro2107Ser) SNV
Germline		 Chr13:32340674 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593908231

3 SubmittersRCV001284436RCV001317029RCV003158646
NM_000059.4(BRCA2):c.6413T>G (p.Val2138Gly) SNV
Germline		 Chr13:32340768 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358877

3 SubmittersRCV001284437RCV001401750RCV003158647
NM_000059.4(BRCA2):c.6644A>G (p.Tyr2215Cys) SNV
Germline		 Chr13:32340999 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_753615126

4 SubmittersRCV001284579RCV002366105RCV003645226
NM_007294.4(BRCA1):c.2763G>C (p.Gln921His) SNV
Germline		 Chr17:43092768 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1057522511

3 SubmittersRCV001284538RCV002542968RCV003158649
NM_007294.4(BRCA1):c.1425C>T (p.Ser475=) SNV
Germline		 Chr17:43094106 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053939955

3 SubmittersRCV001284534RCV002069506
NM_007294.4(BRCA1):c.1343A>G (p.His448Arg) SNV
Germline		 Chr17:43094188 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597876676

3 SubmittersRCV001284532RCV001327517RCV003158648
NM_007294.4(BRCA1):c.1101T>C (p.Thr367=) SNV
Germline		 Chr17:43094430 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053993422

3 SubmittersRCV001284383RCV003120530RCV004035522
NM_007294.4(BRCA1):c.352C>T (p.Leu118=) SNV
Germline		 Chr17:43104211 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_876659315

3 SubmittersRCV001283899RCV002451639RCV003645224
NM_000059.4(BRCA2):c.7682A>C (p.Gln2561Pro) SNV
Germline		 Chr13:32357806 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_55647716

3 SubmittersRCV001290189RCV004035576
NM_000059.4(BRCA2):c.7786G>C (p.Gly2596Arg) SNV
Germline		 Chr13:32357910 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_398122591

1 SubmittersRCV001290192
NM_000059.4(BRCA2):c.7807G>C (p.Ala2603Pro) SNV
Germline		 Chr13:32362524 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_730881560

1 SubmittersRCV001290193
NM_000059.4(BRCA2):c.7888A>C (p.Lys2630Gln) SNV
Germline		 Chr13:32362605 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1380792392

1 SubmittersRCV001290194
NM_000059.4(BRCA2):c.8174G>T (p.Trp2725Leu) SNV
Germline		 Chr13:32363376 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_730881581

1 SubmittersRCV001290196
NM_000059.4(BRCA2):c.9226G>C (p.Gly3076Arg) SNV
Germline		 Chr13:32380115 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1566253644

1 SubmittersRCV001290200
NM_058216.3(RAD51C):c.394A>C (p.Thr132Pro) SNV
Germline		 Chr17:58695179 Likely pathogenic Familial ovarian carcinoma
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2047959481

2 SubmittersRCV001291630RCV003482162
NM_000059.4(BRCA2):c.4609G>C (p.Glu1537Gln) SNV
Germline		 Chr13:32338964 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_753244927

4 SubmittersRCV001294058RCV002339718RCV002538431
NM_000059.4(BRCA2):c.468T>G (p.Asp156Glu) SNV
Germline		 Chr13:32326143 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1197305103

3 SubmittersRCV001304088RCV002341605
NM_000059.4(BRCA2):c.962A>C (p.Gln321Pro) SNV
Germline		 Chr13:32332440 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072401397

2 SubmittersRCV001308271RCV003158694
NM_000059.4(BRCA2):c.1145A>G (p.Lys382Arg) SNV
Germline		 Chr13:32332623 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1396595519

2 SubmittersRCV001306676RCV003158688
NM_000059.4(BRCA2):c.1817C>G (p.Pro606Arg) SNV
Germline		 Chr13:32333295 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358469

2 SubmittersRCV001305954RCV003158686
NM_000059.4(BRCA2):c.1970T>G (p.Leu657Trp) SNV
Germline		 Chr13:32336325 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507279

2 SubmittersRCV001303117RCV003158682
NM_000059.4(BRCA2):c.2008T>G (p.Cys670Gly) SNV
Germline		 Chr13:32336363 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566225927

2 SubmittersRCV001302015RCV003158677
NM_000059.4(BRCA2):c.2390A>G (p.Lys797Arg) SNV
Germline		 Chr13:32336745 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_2072456610

4 SubmittersRCV001294442RCV002451649RCV003399068
NM_000059.4(BRCA2):c.2759C>G (p.Pro920Arg) SNV
Germline		 Chr13:32337114 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282835

2 SubmittersRCV001302264RCV003158678
NM_000059.4(BRCA2):c.2773T>C (p.Ser925Pro) SNV
Germline		 Chr13:32337128 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072464474

3 SubmittersRCV001294809RCV003158658RCV004004956
NM_000059.4(BRCA2):c.2916A>C (p.Lys972Asn) SNV
Germline		 Chr13:32337271 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072467749

3 SubmittersRCV001296693RCV003158663
NM_000059.4(BRCA2):c.2955A>T (p.Lys985Asn) SNV
Germline		 Chr13:32337310 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282971

2 SubmittersRCV001309066RCV003158697
NM_000059.4(BRCA2):c.2973C>G (p.Asn991Lys) SNV
Germline		 Chr13:32337328 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072469477

3 SubmittersRCV001307063RCV002437048
NM_000059.4(BRCA2):c.2996C>T (p.Pro999Leu) SNV
Germline		 Chr13:32337351 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072470050

2 SubmittersRCV001304600RCV003158683
NM_000059.4(BRCA2):c.3128C>T (p.Ala1043Val) SNV
Germline		 Chr13:32337483 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283059

2 SubmittersRCV001298884RCV003158667
NM_000059.4(BRCA2):c.3153G>C (p.Leu1051Phe) SNV
Germline		 Chr13:32337508 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566227877

4 SubmittersRCV001309058RCV002258191
NM_000059.4(BRCA2):c.3272T>C (p.Leu1091Ser) SNV
Germline		 Chr13:32337627 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1064795577

2 SubmittersRCV001295384RCV003158661
NM_000059.4(BRCA2):c.3344C>A (p.Ser1115Tyr) SNV
Germline		 Chr13:32337699 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_879255448

3 SubmittersRCV001298929RCV002322196
NM_000059.4(BRCA2):c.3461C>A (p.Thr1154Asn) SNV
Germline		 Chr13:32337816 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786202212

2 SubmittersRCV001297766RCV003158666
NM_000059.4(BRCA2):c.3495T>G (p.His1165Gln) SNV
Germline		 Chr13:32337850 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_776655838

2 SubmittersRCV001306895RCV003158690
NM_000059.4(BRCA2):c.3527T>C (p.Val1176Ala) SNV
Germline		 Chr13:32337882 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072482870

2 SubmittersRCV001309571RCV003158698
NM_000059.4(BRCA2):c.3624A>C (p.Leu1208Phe) SNV
Germline		 Chr13:32337979 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072484830

2 SubmittersRCV001301916RCV003158676
NM_000059.4(BRCA2):c.3708A>T (p.Lys1236Asn) SNV
Germline		 Chr13:32338063 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072486840

2 SubmittersRCV001304663RCV003158684
NM_000059.4(BRCA2):c.3739A>G (p.Ile1247Val) SNV
Germline		 Chr13:32338094 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072487518

2 SubmittersRCV001300678RCV003158672
NM_000059.4(BRCA2):c.4054G>A (p.Asp1352Asn) SNV
Germline		 Chr13:32338409 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358655

2 SubmittersRCV001307172RCV003158691
NM_000059.4(BRCA2):c.4208C>T (p.Thr1403Ile) SNV
Germline		 Chr13:32338563 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072498862

3 SubmittersRCV001298801RCV002327642
NM_000059.4(BRCA2):c.4287G>T (p.Gln1429His) SNV
Germline		 Chr13:32338642 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072500788

4 SubmittersRCV001308016RCV001525789RCV004005048
NM_000059.4(BRCA2):c.4436G>A (p.Ser1479Asn) SNV
Germline		 Chr13:32338791 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358678

4 SubmittersRCV001305185RCV001523986
NM_000059.4(BRCA2):c.4738T>C (p.Cys1580Arg) SNV
Germline		 Chr13:32339093 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072511910

3 SubmittersRCV001305948RCV002341610
NM_000059.4(BRCA2):c.4990A>G (p.Ile1664Val) SNV
Germline		 Chr13:32339345 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072517745

2 SubmittersRCV001296964RCV003158665
NM_000059.4(BRCA2):c.5491A>C (p.Ile1831Leu) SNV
Germline		 Chr13:32339846 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593905631

2 SubmittersRCV001296279RCV003158662
NM_000059.4(BRCA2):c.5493A>G (p.Ile1831Met) SNV
Germline		 Chr13:32339848 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072530727

2 SubmittersRCV001302503RCV003158679
NM_000059.4(BRCA2):c.5728A>G (p.Asn1910Asp) SNV
Germline		 Chr13:32340083 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072537077

2 SubmittersRCV001300784RCV003158673
NM_000059.4(BRCA2):c.5942C>G (p.Ala1981Gly) SNV
Germline		 Chr13:32340297 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072542244

2 SubmittersRCV001307719RCV003158692
NM_000059.4(BRCA2):c.6071A>T (p.Gln2024Leu) SNV
Germline		 Chr13:32340426 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358845

2 SubmittersRCV001302770RCV003158680
NM_000059.4(BRCA2):c.6169G>A (p.Gly2057Arg) SNV
Germline		 Chr13:32340524 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358856

2 SubmittersRCV001300299RCV003158670
NM_000059.4(BRCA2):c.6366G>A (p.Met2122Ile) SNV
Germline		 Chr13:32340721 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1163477792

2 SubmittersRCV001300571RCV003158671
NM_000059.4(BRCA2):c.6575T>C (p.Met2192Thr) SNV
Germline		 Chr13:32340930 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072559893

2 SubmittersRCV001308414RCV003158695
NM_000059.4(BRCA2):c.6653A>T (p.Asp2218Val) SNV
Germline		 Chr13:32341008 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072561785

4 SubmittersRCV001296043RCV001751561RCV002366117
NM_000059.4(BRCA2):c.7892T>C (p.Leu2631Pro) SNV
Germline		 Chr13:32362609 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_2072746856

2 SubmittersRCV001301794RCV001374714
NM_007294.4(BRCA1):c.4001G>T (p.Gly1334Val) SNV
Germline		 Chr17:43091530 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053486938

3 SubmittersRCV001307057RCV002375382
NM_007294.4(BRCA1):c.3959C>T (p.Ser1320Phe) SNV
Germline		 Chr17:43091572 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053494663

3 SubmittersRCV001306185RCV002375375
NM_007294.4(BRCA1):c.3811A>G (p.Ser1271Gly) SNV
Germline		 Chr17:43091720 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053519524

2 SubmittersRCV001304948RCV003158685
NM_007294.4(BRCA1):c.3797G>A (p.Ser1266Asn) SNV
Germline		 Chr17:43091734 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357160

2 SubmittersRCV001295166RCV003158660
NM_007294.4(BRCA1):c.3673T>A (p.Cys1225Ser) SNV
Germline		 Chr17:43091858 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1382025345

2 SubmittersRCV001306779RCV003158689
NM_007294.4(BRCA1):c.3664G>A (p.Glu1222Lys) SNV
Germline		 Chr17:43091867 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_80357356

4 SubmittersRCV001296697RCV003158664RCV003478764
NM_007294.4(BRCA1):c.3660T>G (p.Asp1220Glu) SNV
Germline		 Chr17:43091871 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1365746397

2 SubmittersRCV001302897RCV003158681
NM_007294.4(BRCA1):c.3610A>G (p.Arg1204Gly) SNV
Germline		 Chr17:43091921 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053557648

2 SubmittersRCV001308772RCV003158696
NM_007294.4(BRCA1):c.3556C>G (p.Leu1186Val) SNV
Germline		 Chr17:43091975 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555587505

2 SubmittersRCV001301549RCV003158674
NM_007294.4(BRCA1):c.3017A>C (p.His1006Pro) SNV
Germline		 Chr17:43092514 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053655843

2 SubmittersRCV001299576RCV003158669
NM_007294.4(BRCA1):c.2614T>C (p.Phe872Leu) SNV
Germline		 Chr17:43092917 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053728394

2 SubmittersRCV001299217RCV003158668
NM_007294.4(BRCA1):c.1976C>G (p.Pro659Arg) SNV
Germline		 Chr17:43093555 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1258526903

5 SubmittersRCV001301537RCV002418910RCV003336374
NM_007294.4(BRCA1):c.1930T>G (p.Cys644Gly) SNV
Germline		 Chr17:43093601 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_753521391

2 SubmittersRCV001301890RCV003158675
NM_007294.4(BRCA1):c.1810A>G (p.Lys604Glu) SNV
Germline		 Chr17:43093721 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053879900

4 SubmittersRCV001301131RCV001760352RCV002411956
NM_007294.4(BRCA1):c.1331G>T (p.Ser444Ile) SNV
Germline		 Chr17:43094200 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597876749

4 SubmittersRCV001308255RCV002259102
NM_007294.4(BRCA1):c.1328A>G (p.Lys443Arg) SNV
Germline		 Chr17:43094203 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053956439

4 SubmittersRCV001308149RCV003158693
NM_007294.4(BRCA1):c.1281G>C (p.Glu427Asp) SNV
Germline		 Chr17:43094250 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567800181

3 SubmittersRCV001296055RCV002379991
NM_007294.4(BRCA1):c.1226T>G (p.Val409Gly) SNV
Germline		 Chr17:43094305 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786202539

3 SubmittersRCV001298534RCV002375349
NM_007294.4(BRCA1):c.1199A>T (p.Asp400Val) SNV
Germline		 Chr17:43094332 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555592245

3 SubmittersRCV001304923RCV002350553
NM_007294.4(BRCA1):c.1195C>T (p.His399Tyr) SNV
Germline		 Chr17:43094336 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053979560

2 SubmittersRCV001295047RCV003158659
NM_007294.4(BRCA1):c.778A>G (p.Lys260Glu) SNV
Germline		 Chr17:43094753 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786202263

2 SubmittersRCV001306563RCV003158687
NM_007294.4(BRCA1):c.776A>C (p.Glu259Ala) SNV
Germline		 Chr17:43094755 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054050036

2 SubmittersRCV001294441RCV003158657
NM_000059.4(BRCA2):c.886T>C (p.Tyr296His) SNV
Germline		 Chr13:32332364 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1347459118

3 SubmittersRCV001317026RCV003158714
NM_000059.4(BRCA2):c.1055A>G (p.Tyr352Cys) SNV
Germline		 Chr13:32332533 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072403426

2 SubmittersRCV001319672RCV003158721
NM_000059.4(BRCA2):c.1319T>G (p.Leu440Arg) SNV
Germline		 Chr13:32332797 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072409540

3 SubmittersRCV001321846RCV002384416
NM_000059.4(BRCA2):c.1567C>T (p.His523Tyr) SNV
Germline		 Chr13:32333045 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072416501

3 SubmittersRCV001321138RCV002402893
NM_000059.4(BRCA2):c.1651G>T (p.Asp551Tyr) SNV
Germline		 Chr13:32333129 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660500

2 SubmittersRCV001317706RCV003158717
NM_000059.4(BRCA2):c.1685G>T (p.Ser562Ile) SNV
Germline		 Chr13:32333163 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072419618

2 SubmittersRCV001314989RCV003158706
NM_000059.4(BRCA2):c.1945C>A (p.Gln649Lys) SNV
Germline		 Chr13:32336300 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122735

2 SubmittersRCV001316099RCV003158709
NM_000059.4(BRCA2):c.1990G>A (p.Gly664Arg) SNV
Germline		 Chr13:32336345 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1346252146

2 SubmittersRCV001327285RCV003158747
NM_000059.4(BRCA2):c.2000T>C (p.Leu667Pro) SNV
Germline		 Chr13:32336355 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072448677

2 SubmittersRCV001316635RCV003158712
NM_000059.4(BRCA2):c.2028T>G (p.Cys676Trp) SNV
Germline		 Chr13:32336383 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072449178

2 SubmittersRCV001326622RCV003158743
NM_000059.4(BRCA2):c.2225A>G (p.Gln742Arg) SNV
Germline		 Chr13:32336580 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1282599125

5 SubmittersRCV001316100RCV002431898RCV004005083
NM_000059.4(BRCA2):c.2297C>A (p.Ala766Asp) SNV
Germline		 Chr13:32336652 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072454625

3 SubmittersRCV001316048RCV003158708RCV003230659
NM_000059.4(BRCA2):c.2386G>T (p.Asp796Tyr) SNV
Germline		 Chr13:32336741 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282650

2 SubmittersRCV001320787RCV003158727
NM_000059.4(BRCA2):c.2694G>T (p.Arg898Ser) SNV
Germline		 Chr13:32337049 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072463067

2 SubmittersRCV001316922RCV003158713
NM_000059.4(BRCA2):c.2894T>C (p.Met965Thr) SNV
Germline		 Chr13:32337249 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072467391

2 SubmittersRCV001320983RCV003158728
NM_000059.4(BRCA2):c.2908G>T (p.Asp970Tyr) SNV
Germline		 Chr13:32337263 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507295

2 SubmittersRCV001323287RCV003158736
NM_000059.4(BRCA2):c.2935A>G (p.Ile979Val) SNV
Germline		 Chr13:32337290 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072468286

3 SubmittersRCV001313624RCV003158703
NM_000059.4(BRCA2):c.2938G>C (p.Asp980His) SNV
Germline		 Chr13:32337293 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507298

2 SubmittersRCV001315796RCV003158707
NM_000059.4(BRCA2):c.2986C>G (p.Leu996Val) SNV
Germline		 Chr13:32337341 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072469725

2 SubmittersRCV001325902RCV003158742
NM_000059.4(BRCA2):c.3047A>C (p.Glu1016Ala) SNV
Germline		 Chr13:32337402 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566227668

2 SubmittersRCV001327669RCV003158748
NM_000059.4(BRCA2):c.3089T>C (p.Phe1030Ser) SNV
Germline		 Chr13:32337444 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072472146

2 SubmittersRCV001317840RCV003158718
NM_000059.4(BRCA2):c.3097G>C (p.Asp1033His) SNV
Germline		 Chr13:32337452 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_780279081

2 SubmittersRCV001316282RCV003158710
NM_000059.4(BRCA2):c.3197A>T (p.Asn1066Ile) SNV
Germline		 Chr13:32337552 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_762752733

4 SubmittersRCV001318719RCV002322234RCV003994264
NM_000059.4(BRCA2):c.3259A>G (p.Thr1087Ala) SNV
Germline		 Chr13:32337614 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_775142613

2 SubmittersRCV001324042RCV003158737
NM_000059.4(BRCA2):c.3283C>G (p.Gln1095Glu) SNV
Germline		 Chr13:32337638 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507662

2 SubmittersRCV001322893RCV003158734
NM_000059.4(BRCA2):c.3928A>T (p.Thr1310Ser) SNV
Germline		 Chr13:32338283 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2072491912

3 SubmittersRCV001321397RCV003158731RCV003478779
NM_000059.4(BRCA2):c.4087A>G (p.Asn1363Asp) SNV
Germline		 Chr13:32338442 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072495655

2 SubmittersRCV001320612RCV003158724
NM_000059.4(BRCA2):c.4117A>T (p.Met1373Leu) SNV
Germline		 Chr13:32338472 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_781119815

2 SubmittersRCV001313615RCV003158702
NM_000059.4(BRCA2):c.4213A>C (p.Asn1405His) SNV
Germline		 Chr13:32338568 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283633

3 SubmittersRCV001312878RCV002327693
NM_000059.4(BRCA2):c.4340T>C (p.Val1447Ala) SNV
Germline		 Chr13:32338695 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072501995

2 SubmittersRCV001320771RCV003158725
NM_000059.4(BRCA2):c.4358A>G (p.Lys1453Arg) SNV
Germline		 Chr13:32338713 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072502303

2 SubmittersRCV001327889RCV003158749
NM_000059.4(BRCA2):c.4837C>T (p.Pro1613Ser) SNV
Germline		 Chr13:32339192 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072513922

4 SubmittersRCV001327197RCV001773656RCV003158746
NM_000059.4(BRCA2):c.4838C>G (p.Pro1613Arg) SNV
Germline		 Chr13:32339193 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1360725610

2 SubmittersRCV001320265RCV003158723
NM_000059.4(BRCA2):c.4865G>T (p.Arg1622Ile) SNV
Germline		 Chr13:32339220 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_864622427

3 SubmittersRCV001316543RCV002341643
NM_000059.4(BRCA2):c.5007A>T (p.Leu1669Phe) SNV
Germline		 Chr13:32339362 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072518124

2 SubmittersRCV001317626RCV003158716
NM_000059.4(BRCA2):c.5108A>T (p.Glu1703Val) SNV
Germline		 Chr13:32339463 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_746177907

3 SubmittersRCV001319765RCV001810724RCV003158722
NM_000059.4(BRCA2):c.5436A>T (p.Glu1812Asp) SNV
Germline		 Chr13:32339791 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_754090538

2 SubmittersRCV001318536RCV003158719
NM_000059.4(BRCA2):c.5497A>G (p.Asn1833Asp) SNV
Germline		 Chr13:32339852 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072530840

2 SubmittersRCV001325132RCV003158739
NM_000059.4(BRCA2):c.5502T>A (p.Ser1834Arg) SNV
Germline		 Chr13:32339857 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072530948

2 SubmittersRCV001313246RCV003158701
NM_000059.4(BRCA2):c.5558G>A (p.Cys1853Tyr) SNV
Germline		 Chr13:32339913 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072532051

3 SubmittersRCV001313356RCV002350568
NM_000059.4(BRCA2):c.5620A>G (p.Ile1874Val) SNV
Germline		 Chr13:32339975 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_921917607

3 SubmittersRCV001317174RCV002350580
NM_000059.4(BRCA2):c.5825T>G (p.Val1942Gly) SNV
Germline		 Chr13:32340180 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072539383

3 SubmittersRCV001323118RCV002476518RCV003158735
NM_000059.4(BRCA2):c.5927G>A (p.Gly1976Glu) SNV
Germline		 Chr13:32340282 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782751

2 SubmittersRCV001324151RCV003158738
NM_000059.4(BRCA2):c.5961G>C (p.Gln1987His) SNV
Germline		 Chr13:32340316 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_387907575

3 SubmittersRCV001321005RCV001773640RCV003158729
NM_000059.4(BRCA2):c.6164T>C (p.Phe2055Ser) SNV
Germline		 Chr13:32340519 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072548028

2 SubmittersRCV001317290RCV003158715
NM_000059.4(BRCA2):c.6258C>G (p.Ile2086Met) SNV
Germline		 Chr13:32340613 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060504611

3 SubmittersRCV001313227RCV002366160
NM_000059.4(BRCA2):c.6287C>T (p.Pro2096Leu) SNV
Germline		 Chr13:32340642 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_587781396

3 SubmittersRCV001320774RCV003158726RCV004005103
NM_000059.4(BRCA2):c.6612T>A (p.Pro2204=) SNV
Germline		 Chr13:32340967 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072560682

2 SubmittersRCV001315597RCV002375402
NM_000059.4(BRCA2):c.6682G>A (p.Val2228Ile) SNV
Germline		 Chr13:32341037 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593909466

3 SubmittersRCV001317923RCV002366172
NM_000059.4(BRCA2):c.6686A>T (p.Glu2229Val) SNV
Germline		 Chr13:32341041 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072562512

2 SubmittersRCV001325500RCV003158741
NM_000059.4(BRCA2):c.6703A>G (p.Met2235Val) SNV
Germline		 Chr13:32341058 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072563047

3 SubmittersRCV001319896RCV002366181
NM_000059.4(BRCA2):c.6832A>C (p.Ile2278Leu) SNV
Germline		 Chr13:32341187 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_772645059

4 SubmittersRCV001319273RCV003158720RCV004005096
NM_000059.4(BRCA2):c.9547A>C (p.Ile3183Leu) SNV
Germline		 Chr13:32396943 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_377123889

2 SubmittersRCV001321386RCV002377401
NM_007294.4(BRCA1):c.4037A>G (p.Glu1346Gly) SNV
Germline		 Chr17:43091494 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053481117

2 SubmittersRCV001322268RCV003158732
NM_007294.4(BRCA1):c.3645C>G (p.Asn1215Lys) SNV
Germline		 Chr17:43091886 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_758329415

2 SubmittersRCV001327080RCV003158744
NM_007294.4(BRCA1):c.3131T>C (p.Ile1044Thr) SNV
Germline		 Chr17:43092400 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053637993

2 SubmittersRCV001325146RCV003158740
NM_007294.4(BRCA1):c.3025T>C (p.Ser1009Pro) SNV
Germline		 Chr17:43092506 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053654131

2 SubmittersRCV001327196RCV003158745
NM_007294.4(BRCA1):c.2907T>A (p.Asn969Lys) SNV
Germline		 Chr17:43092624 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053674031

2 SubmittersRCV001314736RCV003158705
NM_007294.4(BRCA1):c.2446C>A (p.His816Asn) SNV
Germline		 Chr17:43093085 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597869935

3 SubmittersRCV001323550RCV002456448
NM_007294.4(BRCA1):c.2306T>C (p.Ile769Thr) SNV
Germline		 Chr17:43093225 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_372366481

2 SubmittersRCV001322628RCV003158733
NM_007294.4(BRCA1):c.2236G>A (p.Asp746Asn) SNV
Germline		 Chr17:43093295 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660267

3 SubmittersRCV001318822RCV002431910
NM_007294.4(BRCA1):c.1709C>T (p.Pro570Leu) SNV
Germline		 Chr17:43093822 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_879254020

3 SubmittersRCV001313807RCV003158704
NM_007294.4(BRCA1):c.1633G>T (p.Val545Leu) SNV
Germline		 Chr17:43093898 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1304908704

3 SubmittersRCV001312991RCV003158700
NM_007294.4(BRCA1):c.1358A>C (p.Glu453Ala) SNV
Germline		 Chr17:43094173 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567799925

3 SubmittersRCV001325401RCV002384434
NM_007294.4(BRCA1):c.1304A>T (p.Asp435Val) SNV
Germline		 Chr17:43094227 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053960174

3 SubmittersRCV001327295RCV002384441
NM_007294.4(BRCA1):c.1163G>A (p.Arg388Lys) SNV
Germline		 Chr17:43094368 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786203567

3 SubmittersRCV001327897RCV003158750
NM_007294.4(BRCA1):c.968G>A (p.Gly323Glu) SNV
Germline		 Chr17:43094563 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054014720

2 SubmittersRCV001316292RCV003158711
NM_007294.4(BRCA1):c.829A>C (p.Asn277His) SNV
Germline		 Chr17:43094702 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054040121

2 SubmittersRCV001321352RCV003158730
NM_007294.4(BRCA1):c.498G>C (p.Arg166Ser) SNV
Germline		 Chr17:43099824 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1474499188

3 SubmittersRCV001319596RCV002341655RCV003449912
NM_007294.4(BRCA1):c.302-3C>T SNV
Germline		 Chr17:43104264 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358051

3 SubmittersRCV001322081RCV001871790RCV002438734
NM_000059.4(BRCA2):c.5731G>A (p.Asp1911Asn) SNV
Germline		 Chr13:32340086 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072537137

3 SubmittersRCV001328380RCV002546257RCV003158751
NM_000059.4(BRCA2):c.931T>C (p.Cys311Arg) SNV
Germline		 Chr13:32332409 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_61754140

3 SubmittersRCV001337541RCV001357899RCV003158755
NM_000059.4(BRCA2):c.944G>A (p.Cys315Tyr) SNV
Germline		 Chr13:32332422 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072400977

2 SubmittersRCV001349173RCV003158800
NM_000059.4(BRCA2):c.1015G>C (p.Asp339His) SNV
Germline		 Chr13:32332493 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555281693

2 SubmittersRCV001339151RCV003158764
NM_000059.4(BRCA2):c.1020A>T (p.Glu340Asp) SNV
Germline		 Chr13:32332498 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072402711

2 SubmittersRCV001344453RCV003158785
NM_000059.4(BRCA2):c.1331A>T (p.Asn444Ile) SNV
Germline		 Chr13:32332809 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072409915

4 SubmittersRCV001351847RCV001751689RCV003158810
NM_000059.4(BRCA2):c.1412A>G (p.Glu471Gly) SNV
Germline		 Chr13:32332890 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072412299

2 SubmittersRCV001337340RCV003158754
NM_000059.4(BRCA2):c.1518C>G (p.Phe506Leu) SNV
Germline		 Chr13:32332996 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1438502006

3 SubmittersRCV001350672RCV002395777
NM_000059.4(BRCA2):c.1782A>G (p.Ile594Met) SNV
Germline		 Chr13:32333260 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072421971

2 SubmittersRCV001352129RCV003158813
NM_000059.4(BRCA2):c.2018A>G (p.Asn673Ser) SNV
Germline		 Chr13:32336373 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1193025774

2 SubmittersRCV001341912RCV003158771
NM_000059.4(BRCA2):c.2161C>A (p.Pro721Thr) SNV
Germline		 Chr13:32336516 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_867089743

2 SubmittersRCV001350968RCV003158808
NM_000059.4(BRCA2):c.2194G>A (p.Glu732Lys) SNV
Germline		 Chr13:32336549 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1244303575

2 SubmittersRCV001342866RCV003158775
NM_000059.4(BRCA2):c.2311T>G (p.Leu771Val) SNV
Germline		 Chr13:32336666 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072454912

2 SubmittersRCV001339258RCV003158766
NM_000059.4(BRCA2):c.2428A>C (p.Thr810Pro) SNV
Germline		 Chr13:32336783 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358508

2 SubmittersRCV001350555RCV003158804
NM_000059.4(BRCA2):c.2549A>G (p.Gln850Arg) SNV
Germline		 Chr13:32336904 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072459937

4 SubmittersRCV001341255RCV002438781
NM_000059.4(BRCA2):c.2692A>G (p.Arg898Gly) SNV
Germline		 Chr13:32337047 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072463015

2 SubmittersRCV001349129RCV003158799
NM_000059.4(BRCA2):c.2700T>G (p.Asn900Lys) SNV
Germline		 Chr13:32337055 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593897567

2 SubmittersRCV001342970RCV003158777
NM_000059.4(BRCA2):c.2767A>G (p.Lys923Glu) SNV
Germline		 Chr13:32337122 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072464353

2 SubmittersRCV001350614RCV003158806
NM_000059.4(BRCA2):c.2984G>A (p.Gly995Glu) SNV
Germline		 Chr13:32337339 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507299

3 SubmittersRCV001337563RCV003158756
NM_000059.4(BRCA2):c.3004A>G (p.Asn1002Asp) SNV
Germline		 Chr13:32337359 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_780365246

2 SubmittersRCV001343189RCV003158779
NM_000059.4(BRCA2):c.3049A>C (p.Ile1017Leu) SNV
Germline		 Chr13:32337404 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072470931

2 SubmittersRCV001340278RCV003158768
NM_000059.4(BRCA2):c.3179G>A (p.Ser1060Asn) SNV
Germline		 Chr13:32337534 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_2072474262

3 SubmittersRCV001349434RCV003158801RCV004531147
NM_000059.4(BRCA2):c.3250A>T (p.Ser1084Cys) SNV
Germline		 Chr13:32337605 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_369907107

2 SubmittersRCV001337933RCV003158761
NM_000059.4(BRCA2):c.3448A>G (p.Thr1150Ala) SNV
Germline		 Chr13:32337803 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_367789070

2 SubmittersRCV001338556RCV003158763
NM_000059.4(BRCA2):c.3478A>G (p.Arg1160Gly) SNV
Germline		 Chr13:32337833 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072481649

2 SubmittersRCV001352461RCV003158814
NM_000059.4(BRCA2):c.3508G>A (p.Ala1170Thr) SNV
Germline		 Chr13:32337863 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072482404

3 SubmittersRCV001348868RCV003158796
NM_000059.4(BRCA2):c.3540G>T (p.Lys1180Asn) SNV
Germline		 Chr13:32337895 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_864622363

2 SubmittersRCV001348961RCV003158797
NM_000059.4(BRCA2):c.3909C>T (p.Gly1303=) SNV
Germline		 Chr13:32338264 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80359786

2 SubmittersRCV001348990RCV002377482
NM_000059.4(BRCA2):c.3962A>T (p.Asp1321Val) SNV
Germline		 Chr13:32338317 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358645

2 SubmittersRCV001345057RCV003158788
NM_000059.4(BRCA2):c.4043G>T (p.Cys1348Phe) SNV
Germline		 Chr13:32338398 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1307056903

3 SubmittersRCV001339704RCV002322276
NM_000059.4(BRCA2):c.4127G>A (p.Gly1376Glu) SNV
Germline		 Chr13:32338482 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_780458959

2 SubmittersRCV001343425RCV003158780
NM_000059.4(BRCA2):c.4201G>A (p.Gly1401Ser) SNV
Germline		 Chr13:32338556 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072498754

3 SubmittersRCV001347707RCV001776212RCV003158794
NM_000059.4(BRCA2):c.4207A>G (p.Thr1403Ala) SNV
Germline		 Chr13:32338562 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2072498842

4 SubmittersRCV001345271RCV002329326RCV003478790
NM_000059.4(BRCA2):c.4482T>G (p.Ser1494Arg) SNV
Germline		 Chr13:32338837 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_761826517

2 SubmittersRCV001344570RCV003158786
NM_000059.4(BRCA2):c.4616T>C (p.Leu1539Ser) SNV
Germline		 Chr13:32338971 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072509102

4 SubmittersRCV001345544RCV002246322RCV003158789
NM_000059.4(BRCA2):c.4621A>C (p.Lys1541Gln) SNV
Germline		 Chr13:32338976 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072509204

3 SubmittersRCV001345920RCV003158792
NM_000059.4(BRCA2):c.4828G>C (p.Val1610Leu) SNV
Germline		 Chr13:32339183 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358705

2 SubmittersRCV001342363RCV003158774
NM_000059.4(BRCA2):c.4940C>T (p.Thr1647Ile) SNV
Germline		 Chr13:32339295 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593903891

3 SubmittersRCV001348610RCV002341727
NM_000059.4(BRCA2):c.4969A>T (p.Asn1657Tyr) SNV
Germline		 Chr13:32339324 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587781599

3 SubmittersRCV001337591RCV002246315RCV003158757
NM_000059.4(BRCA2):c.5120C>G (p.Thr1707Ser) SNV
Germline		 Chr13:32339475 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786202354

2 SubmittersRCV001343921RCV003158783
NM_000059.4(BRCA2):c.5162A>G (p.Asn1721Ser) SNV
Germline		 Chr13:32339517 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072522047

2 SubmittersRCV001349454RCV003158802
NM_000059.4(BRCA2):c.5365A>C (p.Lys1789Gln) SNV
Germline		 Chr13:32339720 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782240

3 SubmittersRCV001341554RCV002350622
NM_000059.4(BRCA2):c.5374T>C (p.Ser1792Pro) SNV
Germline		 Chr13:32339729 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072527957

2 SubmittersRCV001342941RCV003158776
NM_000059.4(BRCA2):c.5428G>T (p.Val1810Phe) SNV
Germline		 Chr13:32339783 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358766

4 SubmittersRCV001343687RCV001762578RCV002070216RCV003158781
NM_000059.4(BRCA2):c.5524C>A (p.Pro1842Thr) SNV
Germline		 Chr13:32339879 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072531201

3 SubmittersRCV001348643RCV002350647
NM_000059.4(BRCA2):c.5600C>A (p.Thr1867Lys) SNV
Germline		 Chr13:32339955 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072533075

2 SubmittersRCV001337713RCV003158758
NM_000059.4(BRCA2):c.5722C>G (p.Leu1908Val) SNV
Germline		 Chr13:32340077 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_878939010

3 SubmittersRCV001341537RCV002350621
NM_000059.4(BRCA2):c.5755A>G (p.Lys1919Glu) SNV
Germline		 Chr13:32340110 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072537659

2 SubmittersRCV001340660RCV003158770
NM_000059.4(BRCA2):c.5855T>C (p.Leu1952Ser) SNV
Germline		 Chr13:32340210 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_375064902

2 SubmittersRCV001352013RCV003158812
NM_000059.4(BRCA2):c.5944A>G (p.Ser1982Gly) SNV
Germline		 Chr13:32340299 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072542296

3 SubmittersRCV001340043RCV003158767RCV004005163
NM_000059.4(BRCA2):c.5945G>A (p.Ser1982Asn) SNV
Germline		 Chr13:32340300 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_28897738

4 SubmittersRCV001348747RCV001586140RCV003158795
NM_000059.4(BRCA2):c.6008T>G (p.Ile2003Arg) SNV
Germline		 Chr13:32340363 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358837

2 SubmittersRCV001345767RCV003158791
NM_000059.4(BRCA2):c.6101G>T (p.Arg2034Leu) SNV
Germline		 Chr13:32340456 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358849

2 SubmittersRCV001345656RCV003158790
NM_000059.4(BRCA2):c.6307T>C (p.Ser2103Pro) SNV
Germline		 Chr13:32340662 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072551841

3 SubmittersRCV001348969RCV002250751RCV003158798
NM_000059.4(BRCA2):c.6345G>C (p.Glu2115Asp) SNV
Germline		 Chr13:32340700 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1432047332

2 SubmittersRCV001350688RCV003158807
NM_000059.4(BRCA2):c.6447T>G (p.Ile2149Met) SNV
Germline		 Chr13:32340802 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593908723

2 SubmittersRCV001344303RCV003158784
NM_000059.4(BRCA2):c.6550C>A (p.Gln2184Lys) SNV
Germline		 Chr13:32340905 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358887

2 SubmittersRCV001344662RCV003158787
NM_000059.4(BRCA2):c.6580A>G (p.Ile2194Val) SNV
Germline		 Chr13:32340935 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566234950

2 SubmittersRCV001337788RCV003158759
NM_000059.4(BRCA2):c.6827C>T (p.Pro2276Leu) SNV
Germline		 Chr13:32341182 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_748541466

2 SubmittersRCV001340378RCV003158769
NM_007294.4(BRCA1):c.3959C>G (p.Ser1320Cys) SNV
Germline		 Chr17:43091572 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053494663

2 SubmittersRCV001346882RCV003158793
NM_007294.4(BRCA1):c.3877G>A (p.Ala1293Thr) SNV
Germline		 Chr17:43091654 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507223

2 SubmittersRCV001339184RCV003158765
NM_007294.4(BRCA1):c.3653G>A (p.Ser1218Asn) SNV
Germline		 Chr17:43091878 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053549058

2 SubmittersRCV001350596RCV003158805
NM_007294.4(BRCA1):c.3565A>C (p.Ser1189Arg) SNV
Germline		 Chr17:43091966 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567791142

2 SubmittersRCV001351054RCV003158809
NM_007294.4(BRCA1):c.3372C>A (p.Phe1124Leu) SNV
Germline		 Chr17:43092159 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786203431

2 SubmittersRCV001337209RCV003158753
NM_007294.4(BRCA1):c.3365C>T (p.Thr1122Ile) SNV
Germline		 Chr17:43092166 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 rs_2053599251

4 SubmittersRCV001348984RCV002456516RCV003607420
NM_007294.4(BRCA1):c.3255A>T (p.Arg1085Ser) SNV
Germline		 Chr17:43092276 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053619110

2 SubmittersRCV001337208RCV003158752
NM_007294.4(BRCA1):c.2828A>G (p.Lys943Arg) SNV
Germline		 Chr17:43092703 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053689894

2 SubmittersRCV001343910RCV003158782
NM_007294.4(BRCA1):c.2595G>C (p.Lys865Asn) SNV
Germline		 Chr17:43092936 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1268762258

3 SubmittersRCV001348513RCV002456513
NM_007294.4(BRCA1):c.2501G>C (p.Gly834Ala) SNV
Germline		 Chr17:43093030 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_757383244

2 SubmittersRCV001350097RCV003158803
NM_007294.4(BRCA1):c.2321G>C (p.Gly774Ala) SNV
Germline		 Chr17:43093210 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_730881482

2 SubmittersRCV001337800RCV003158760
NM_007294.4(BRCA1):c.2089T>C (p.Phe697Leu) SNV
Germline		 Chr17:43093442 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053828310

2 SubmittersRCV001342283RCV003158773
NM_007294.4(BRCA1):c.1910C>G (p.Thr637Ser) SNV
Germline		 Chr17:43093621 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555590925

3 SubmittersRCV001343341RCV002412077
NM_007294.4(BRCA1):c.1852A>T (p.Arg618Trp) SNV
Germline		 Chr17:43093679 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053872916

2 SubmittersRCV001342124RCV003158772
NM_007294.4(BRCA1):c.1751C>T (p.Ala584Val) SNV
Germline		 Chr17:43093780 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053890440

2 SubmittersRCV001352465RCV003158815
NM_007294.4(BRCA1):c.1473G>T (p.Gln491His) SNV
Germline		 Chr17:43094058 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053933782

2 SubmittersRCV001343063RCV003158778
NM_007294.4(BRCA1):c.1219G>A (p.Ala407Thr) SNV
Germline		 Chr17:43094312 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053973967

2 SubmittersRCV001338160RCV003158762
NM_007294.4(BRCA1):c.1093A>G (p.Arg365Gly) SNV
Germline		 Chr17:43094438 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122627

4 SubmittersRCV001343227RCV002447409
NM_007294.4(BRCA1):c.1031C>G (p.Ala344Gly) SNV
Germline		 Chr17:43094500 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876658636

2 SubmittersRCV001351887RCV003158811
NM_007294.4(BRCA1):c.905C>T (p.Ala302Val) SNV
Germline		 Chr17:43094626 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1418676444

3 SubmittersRCV001338690RCV002447393
NM_000059.4(BRCA2):c.1910-1G>A SNV
Germline		 Chr13:32336264 Pathogenic/Likely pathogenic Malignant tumor of breast
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566225769

3 SubmittersRCV001358371RCV003473880RCV003645230
NM_000059.4(BRCA2):c.3380T>G (p.Phe1127Cys) SNV
Germline		 Chr13:32337735 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137495989

3 SubmittersRCV001358242RCV002547687RCV003158831
NM_000059.4(BRCA2):c.3449C>T (p.Thr1150Ile) SNV
Germline		 Chr13:32337804 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_730881524

3 SubmittersRCV001355744RCV002547615RCV003158820
NM_000059.4(BRCA2):c.3923A>C (p.Glu1308Ala) SNV
Germline		 Chr13:32338278 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137501297

4 SubmittersRCV001358069RCV002322310RCV002547685
NM_000059.4(BRCA2):c.4021T>C (p.Ser1341Pro) SNV
Germline		 Chr13:32338376 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137502159

3 SubmittersRCV001358160RCV003158829RCV003530192
NM_007294.4(BRCA1):c.3635C>T (p.Ser1212Leu) SNV
Germline		 Chr17:43091896 Conflicting classifications of pathogenicity Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_886038021

3 SubmittersRCV001355871RCV002547620RCV003158822
NM_007294.4(BRCA1):c.3076A>G (p.Ile1026Val) SNV
Germline		 Chr17:43092455 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1468925322

3 SubmittersRCV001354778RCV001871924RCV003158816
NM_007294.4(BRCA1):c.709G>T (p.Glu237Ter) SNV
Germline		 Chr17:43094822 Pathogenic Malignant tumor of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_2154496548

2 SubmittersRCV001357721RCV003645229
NM_000059.4(BRCA2):c.1180G>A (p.Glu394Lys) SNV
Germline		 Chr13:32332658 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507575

2 SubmittersRCV001373021RCV003158888
NM_000059.4(BRCA2):c.1289A>G (p.Asp430Gly) SNV
Germline		 Chr13:32332767 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137469640

2 SubmittersRCV001368710RCV003158872
NM_000059.4(BRCA2):c.1728T>G (p.Asn576Lys) SNV
Germline		 Chr13:32333206 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282035

2 SubmittersRCV001374136RCV003158893
NM_000059.4(BRCA2):c.1807A>C (p.Lys603Gln) SNV
Germline		 Chr13:32333285 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282089

2 SubmittersRCV001363742RCV003158852
NM_000059.4(BRCA2):c.1823A>G (p.Asp608Gly) SNV
Germline		 Chr13:32333301 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137475288

2 SubmittersRCV001372302RCV003158883
NM_000059.4(BRCA2):c.1832C>T (p.Ser611Leu) SNV
Germline		 Chr13:32333310 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_80358474

5 SubmittersRCV001369191RCV003158876RCV003493851RCV003478801
NM_000059.4(BRCA2):c.1846T>A (p.Cys616Ser) SNV
Germline		 Chr13:32333324 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2137475583

3 SubmittersRCV001374268RCV003158896RCV004006845
NM_000059.4(BRCA2):c.1865C>G (p.Ala622Gly) SNV
Germline		 Chr13:32333343 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_80358477

3 SubmittersRCV001363901RCV003158853RCV004006783
NM_000059.4(BRCA2):c.1960G>A (p.Glu654Lys) SNV
Germline		 Chr13:32336315 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 rs_786203845

4 SubmittersRCV001374097RCV002420847RCV003492250
NM_000059.4(BRCA2):c.2218C>G (p.Pro740Ala) SNV
Germline		 Chr13:32336573 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137484346

3 SubmittersRCV001371122RCV002432044
NM_000059.4(BRCA2):c.2443A>T (p.Met815Leu) SNV
Germline		 Chr13:32336798 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786203814

2 SubmittersRCV001369055RCV003158874
NM_000059.4(BRCA2):c.2593G>A (p.Glu865Lys) SNV
Germline		 Chr13:32336948 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782014

2 SubmittersRCV001362157RCV003158845
NM_000059.4(BRCA2):c.2680G>C (p.Val894Leu) SNV
Germline		 Chr13:32337035 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_28897715

2 SubmittersRCV001368026RCV003158868
NM_000059.4(BRCA2):c.2754C>G (p.Asn918Lys) SNV
Germline		 Chr13:32337109 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_753073979

3 SubmittersRCV001373969RCV003158892
NM_000059.4(BRCA2):c.2783T>C (p.Val928Ala) SNV
Germline		 Chr13:32337138 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137489850

2 SubmittersRCV001366865RCV003158865
NM_000059.4(BRCA2):c.2865C>G (p.Asn955Lys) SNV
Germline		 Chr13:32337220 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137490709

2 SubmittersRCV001359180RCV003158834
NM_000059.4(BRCA2):c.3020G>A (p.Gly1007Asp) SNV
Germline		 Chr13:32337375 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566227648

2 SubmittersRCV001363502RCV003158851
NM_000059.4(BRCA2):c.3077A>C (p.Lys1026Thr) SNV
Germline		 Chr13:32337432 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060502380

2 SubmittersRCV001372593RCV003158885
NM_000059.4(BRCA2):c.3413A>G (p.Gln1138Arg) SNV
Germline		 Chr13:32337768 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358584

2 SubmittersRCV001362912RCV003158849
NM_000059.4(BRCA2):c.3721T>C (p.Phe1241Leu) SNV
Germline		 Chr13:32338076 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137499348

3 SubmittersRCV001366256RCV001509439RCV003158863
NM_000059.4(BRCA2):c.3757G>T (p.Ala1253Ser) SNV
Germline		 Chr13:32338112 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1226138707

2 SubmittersRCV001372595RCV003158886
NM_000059.4(BRCA2):c.3886A>G (p.Asn1296Asp) SNV
Germline		 Chr13:32338241 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1427687544

3 SubmittersRCV001368249RCV002368190
NM_000059.4(BRCA2):c.3967A>G (p.Lys1323Glu) SNV
Germline		 Chr13:32338322 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358648

2 SubmittersRCV001368256RCV003158870
NM_000059.4(BRCA2):c.4186C>A (p.Gln1396Lys) SNV
Germline		 Chr13:32338541 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_776286311

3 SubmittersRCV001365628RCV002329371
NM_000059.4(BRCA2):c.4243G>C (p.Glu1415Gln) SNV
Germline		 Chr13:32338598 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507327

4 SubmittersRCV001361209RCV001732136RCV002329359
NM_000059.4(BRCA2):c.4273G>A (p.Asp1425Asn) SNV
Germline		 Chr13:32338628 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137504699

2 SubmittersRCV001368711RCV003158873
NM_000059.4(BRCA2):c.4556C>A (p.Pro1519His) SNV
Germline		 Chr13:32338911 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587781534

2 SubmittersRCV001373749RCV003158891
NM_000059.4(BRCA2):c.4571T>G (p.Phe1524Cys) SNV
Germline		 Chr13:32338926 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1743560254

3 SubmittersRCV001360342RCV002341753
NM_000059.4(BRCA2):c.4643A>C (p.Glu1548Ala) SNV
Germline		 Chr13:32338998 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1428922464

3 SubmittersRCV001371132RCV002329392
NM_000059.4(BRCA2):c.4705T>A (p.Tyr1569Asn) SNV
Germline		 Chr13:32339060 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137509279

2 SubmittersRCV001361459RCV003158841
NM_000059.4(BRCA2):c.4740T>G (p.Cys1580Trp) SNV
Germline		 Chr13:32339095 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137509697

2 SubmittersRCV001369124RCV003158875
NM_000059.4(BRCA2):c.4954G>A (p.Ala1652Thr) SNV
Germline		 Chr13:32339309 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358720

3 SubmittersRCV001372276RCV003158882
NM_000059.4(BRCA2):c.5237C>T (p.Ser1746Phe) SNV
Germline		 Chr13:32339592 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_2137515447

3 SubmittersRCV001360569RCV003158839RCV003321832
NM_000059.4(BRCA2):c.5264A>G (p.Glu1755Gly) SNV
Germline		 Chr13:32339619 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137515724

3 SubmittersRCV001370851RCV002341801
NM_000059.4(BRCA2):c.5273A>G (p.Asn1758Ser) SNV
Germline		 Chr13:32339628 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072525612

5 SubmittersRCV001363645RCV001820063RCV002350682RCV004006780
NM_000059.4(BRCA2):c.5336T>C (p.Val1779Ala) SNV
Germline		 Chr13:32339691 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072526947

2 SubmittersRCV001370957RCV003158879
NM_000059.4(BRCA2):c.5401C>T (p.Pro1801Ser) SNV
Germline		 Chr13:32339756 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072528556

3 SubmittersRCV001372271RCV002350714
NM_000059.4(BRCA2):c.5592C>A (p.Asp1864Glu) SNV
Germline		 Chr13:32339947 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1198204828

3 SubmittersRCV001360418RCV002051938RCV003158837
NM_000059.4(BRCA2):c.5627A>G (p.Glu1876Gly) SNV
Germline		 Chr13:32339982 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137519300

3 SubmittersRCV001362549RCV003158848
NM_000059.4(BRCA2):c.5915C>T (p.Ala1972Val) SNV
Germline		 Chr13:32340270 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137522256

2 SubmittersRCV001365250RCV003158859
NM_000059.4(BRCA2):c.5950A>G (p.Lys1984Glu) SNV
Germline		 Chr13:32340305 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137522625

2 SubmittersRCV001367815RCV003158867
NM_000059.4(BRCA2):c.5960A>G (p.Gln1987Arg) SNV
Germline		 Chr13:32340315 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1364714267

3 SubmittersRCV001372768RCV002357270
NM_000059.4(BRCA2):c.6249T>G (p.Phe2083Leu) SNV
Germline		 Chr13:32340604 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072550078

3 SubmittersRCV001373389RCV002368207
NM_000059.4(BRCA2):c.6344A>T (p.Glu2115Val) SNV
Germline		 Chr13:32340699 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507370

3 SubmittersRCV001360442RCV003158838
NM_000059.4(BRCA2):c.6677A>C (p.Glu2226Ala) SNV
Germline		 Chr13:32341032 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1281267586

2 SubmittersRCV001365399RCV003158860
NM_000059.4(BRCA2):c.6703A>T (p.Met2235Leu) SNV
Germline		 Chr13:32341058 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072563047

2 SubmittersRCV001364785RCV003158858
NM_000059.4(BRCA2):c.6785T>C (p.Met2262Thr) SNV
Germline		 Chr13:32341140 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358904

2 SubmittersRCV001368640RCV003158871
NM_007294.4(BRCA1):c.4079G>A (p.Ser1360Asn) SNV
Germline		 Chr17:43091452 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154265376

3 SubmittersRCV001370114RCV003120584RCV003158877
NM_007294.4(BRCA1):c.4001G>A (p.Gly1334Asp) SNV
Germline		 Chr17:43091530 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053486938

3 SubmittersRCV001361614RCV002493845RCV003158843
NM_007294.4(BRCA1):c.3972G>A (p.Met1324Ile) SNV
Germline		 Chr17:43091559 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_2053491671

3 SubmittersRCV001361589RCV003158842RCV004005280
NM_007294.4(BRCA1):c.3853C>T (p.Leu1285Phe) SNV
Germline		 Chr17:43091678 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154281078

2 SubmittersRCV001365434RCV003158861
NM_007294.4(BRCA1):c.3742G>A (p.Ala1248Thr) SNV
Germline		 Chr17:43091789 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053534351

2 SubmittersRCV001373118RCV003158889
NM_007294.4(BRCA1):c.3626T>C (p.Leu1209Ser) SNV
Germline		 Chr17:43091905 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786203884

2 SubmittersRCV001371070RCV003158880
NM_007294.4(BRCA1):c.3566G>T (p.Ser1189Ile) SNV
Germline		 Chr17:43091965 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154302764

2 SubmittersRCV001361124RCV003158840
NM_007294.4(BRCA1):c.3533G>T (p.Ser1178Ile) SNV
Germline		 Chr17:43091998 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1294360179

2 SubmittersRCV001363206RCV003158850
NM_007294.4(BRCA1):c.3521C>T (p.Ser1174Phe) SNV
Germline		 Chr17:43092010 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1055368753

2 SubmittersRCV001359965RCV003158835
NM_007294.4(BRCA1):c.3478A>G (p.Lys1160Glu) SNV
Germline		 Chr17:43092053 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154311006

2 SubmittersRCV001373514RCV003158890
NM_007294.4(BRCA1):c.3191G>C (p.Ser1064Thr) SNV
Germline		 Chr17:43092340 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154337756

3 SubmittersRCV001367459RCV002447478
NM_007294.4(BRCA1):c.3190A>G (p.Ser1064Gly) SNV
Germline		 Chr17:43092341 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_273899702

2 SubmittersRCV001364063RCV003158854
NM_007294.4(BRCA1):c.3163G>T (p.Gly1055Cys) SNV
Germline		 Chr17:43092368 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_749417532

2 SubmittersRCV001374151RCV003158894
NM_007294.4(BRCA1):c.3088A>G (p.Asn1030Asp) SNV
Germline		 Chr17:43092443 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154343150

2 SubmittersRCV001364711RCV003158857
NM_007294.4(BRCA1):c.2687G>A (p.Ser896Asn) SNV
Germline		 Chr17:43092844 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_2053714262

3 SubmittersRCV001360417RCV003158836RCV004005270
NM_007294.4(BRCA1):c.2371C>A (p.Leu791Ile) SNV
Germline		 Chr17:43093160 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567795916

2 SubmittersRCV001370700RCV003158878
NM_007294.4(BRCA1):c.2320G>A (p.Gly774Ser) SNV
Germline		 Chr17:43093211 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555589917

2 SubmittersRCV001374209RCV003158895
NM_007294.4(BRCA1):c.1876G>T (p.Val626Leu) SNV
Germline		 Chr17:43093655 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053869047

2 SubmittersRCV001364636RCV003158855
NM_007294.4(BRCA1):c.1782G>A (p.Met594Ile) SNV
Germline		 Chr17:43093749 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154423571

2 SubmittersRCV001362293RCV003158847
NM_007294.4(BRCA1):c.1627G>C (p.Gly543Arg) SNV
Germline		 Chr17:43093904 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154433275

2 SubmittersRCV001365650RCV003158862
NM_007294.4(BRCA1):c.1591A>G (p.Met531Val) SNV
Germline		 Chr17:43093940 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053916000

2 SubmittersRCV001372801RCV003158887
NM_007294.4(BRCA1):c.1440T>G (p.Asn480Lys) SNV
Germline		 Chr17:43094091 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_2154446030

4 SubmittersRCV001370275RCV002395839RCV004006821
NM_007294.4(BRCA1):c.1344C>G (p.His448Gln) SNV
Germline		 Chr17:43094187 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1395644015

2 SubmittersRCV001368041RCV003158869
NM_007294.4(BRCA1):c.1315G>C (p.Ala439Pro) SNV
Germline		 Chr17:43094216 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1064794098

2 SubmittersRCV001366549RCV003158864
NM_007294.4(BRCA1):c.1198G>A (p.Asp400Asn) SNV
Germline		 Chr17:43094333 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053979139

2 SubmittersRCV001370216RCV004037460
NM_007294.4(BRCA1):c.1051A>C (p.Lys351Gln) SNV
Germline		 Chr17:43094480 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1178253962

2 SubmittersRCV001372331RCV003158884
NM_007294.4(BRCA1):c.972T>G (p.Ser324Arg) SNV
Germline		 Chr17:43094559 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154481654

2 SubmittersRCV001371638RCV003158881
NM_007294.4(BRCA1):c.905C>G (p.Ala302Gly) SNV
Germline		 Chr17:43094626 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1418676444

2 SubmittersRCV001362128RCV003158844
NM_007294.4(BRCA1):c.883G>T (p.Asp295Tyr) SNV
Germline		 Chr17:43094648 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154487384

2 SubmittersRCV001367639RCV003158866
NM_007294.4(BRCA1):c.854A>C (p.His285Pro) SNV
Germline		 Chr17:43094677 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154489161

2 SubmittersRCV001364708RCV003158856
NM_000059.4(BRCA2):c.-39-1G>C SNV
Germline		 Chr13:32316421 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1060499566

2 SubmittersRCV001379392RCV003234794
NM_000059.4(BRCA2):c.444T>A (p.Cys148Ter) SNV
Germline		 Chr13:32326119 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2137449498

2 SubmittersRCV001389530RCV003136060
NM_000059.4(BRCA2):c.724A>T (p.Lys242Ter) SNV
Germline		 Chr13:32330961 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137461517

1 SubmittersRCV001385053
NM_000059.4(BRCA2):c.1018G>T (p.Glu340Ter) SNV
Germline		 Chr13:32332496 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137466889

1 SubmittersRCV001389884
NM_000059.4(BRCA2):c.1156G>T (p.Glu386Ter) SNV
Germline		 Chr13:32332634 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1593892076

2 SubmittersRCV001388006RCV002357294
NM_000059.4(BRCA2):c.1228A>T (p.Lys410Ter) SNV
Germline		 Chr13:32332706 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137468996

1 SubmittersRCV001387666
NM_000059.4(BRCA2):c.2173A>T (p.Lys725Ter) SNV
Germline		 Chr13:32336528 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_431825294

2 SubmittersRCV001390181RCV003169952
NM_000059.4(BRCA2):c.2409T>A (p.Tyr803Ter) SNV
Germline		 Chr13:32336764 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_80358504

1 SubmittersRCV001381778
NM_000059.4(BRCA2):c.2410G>T (p.Glu804Ter) SNV
Germline		 Chr13:32336765 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137486181

1 SubmittersRCV001387561
NM_000059.4(BRCA2):c.2809C>T (p.Gln937Ter) SNV
Germline		 Chr13:32337164 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2137490179

2 SubmittersRCV001385424RCV002438889
NM_000059.4(BRCA2):c.3472G>T (p.Glu1158Ter) SNV
Germline		 Chr13:32337827 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555283258

2 SubmittersRCV001382445RCV003316839
NM_000059.4(BRCA2):c.4057G>T (p.Glu1353Ter) SNV
Germline		 Chr13:32338412 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137502511

1 SubmittersRCV001386796
NM_000059.4(BRCA2):c.4318A>T (p.Lys1440Ter) SNV
Germline		 Chr13:32338673 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_80358668

1 SubmittersRCV001384652
NM_000059.4(BRCA2):c.5217T>G (p.Tyr1739Ter) SNV
Germline		 Chr13:32339572 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80358746

2 SubmittersRCV001387235RCV002341828
NM_000059.4(BRCA2):c.5899A>T (p.Lys1967Ter) SNV
Germline		 Chr13:32340254 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_988285170

2 SubmittersRCV001389041RCV004037701
NM_000059.4(BRCA2):c.5947G>T (p.Gly1983Ter) SNV
Germline		 Chr13:32340302 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1555284478

1 SubmittersRCV001387082
NM_000059.4(BRCA2):c.6284C>A (p.Ser2095Ter) SNV
Germline		 Chr13:32340639 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1593908124

1 SubmittersRCV001383956
NM_000059.4(BRCA2):c.6407T>G (p.Leu2136Ter) SNV
Germline		 Chr13:32340762 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137527241

1 SubmittersRCV001381720
NM_000059.4(BRCA2):c.6920C>A (p.Ser2307Ter) SNV
Germline		 Chr13:32344636 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137537327

1 SubmittersRCV001386206
NM_000059.4(BRCA2):c.7018G>T (p.Glu2340Ter) SNV
Germline		 Chr13:32354871 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137555167

1 SubmittersRCV001385305
NM_000059.4(BRCA2):c.8437G>T (p.Gly2813Ter) SNV
Germline		 Chr13:32370507 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137597605

1 SubmittersRCV001382438
NM_000059.4(BRCA2):c.8487+1G>C SNV
Germline		 Chr13:32370558 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_81002798

1 SubmittersRCV001390836
NM_000059.4(BRCA2):c.8487+2T>A SNV
Germline		 Chr13:32370559 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_886040944

1 SubmittersRCV001384152
NM_000059.4(BRCA2):c.8517C>G (p.Tyr2839Ter) SNV
Germline		 Chr13:32370985 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_863224315

1 SubmittersRCV001384169
NM_000059.4(BRCA2):c.8633-2A>C SNV
Germline		 Chr13:32376668 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_81002886

1 SubmittersRCV001381420
NM_000059.4(BRCA2):c.8755-2A>T SNV
Germline		 Chr13:32379315 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566252482

3 SubmittersRCV001382127RCV001800992RCV002377568
NM_000059.4(BRCA2):c.8857G>T (p.Glu2953Ter) SNV
Germline		 Chr13:32379419 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_775261666

2 SubmittersRCV001382121RCV002377567
NM_000059.4(BRCA2):c.9699T>A (p.Cys3233Ter) SNV
Germline		 Chr13:32398212 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_746413844

4 SubmittersRCV001390686RCV003284297RCV003473999RCV004006852
NM_007294.4(BRCA1):c.4357+2T>A SNV
Germline		 Chr17:43082402 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_80358152

1 SubmittersRCV001390340
NM_007294.4(BRCA1):c.3381T>A (p.Tyr1127Ter) SNV
Germline		 Chr17:43092150 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_781319410

1 SubmittersRCV001383705
NM_007294.4(BRCA1):c.2500G>T (p.Gly834Ter) SNV
Germline		 Chr17:43093031 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_786202215

1 SubmittersRCV001390308
NM_007294.4(BRCA1):c.1009G>T (p.Glu337Ter) SNV
Germline		 Chr17:43094522 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2054008789

1 SubmittersRCV001388059
NM_000059.4(BRCA2):c.6621A>G (p.Thr2207=) SNV
Germline		 Chr13:32340976 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1433893010

2 SubmittersRCV001399965RCV003234063
NM_000059.4(BRCA2):c.7875A>G (p.Arg2625=) SNV
Germline		 Chr13:32362592 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137577015

3 SubmittersRCV001404446RCV002268481RCV002413954
NM_007294.4(BRCA1):c.4096+9A>G SNV
Germline		 Chr17:43091426 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154264165

2 SubmittersRCV001414992RCV004017837
NM_058216.3(RAD51C):c.706-1G>A SNV
Germline		 Chr17:58709858 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555599090

3 SubmittersRCV001779207RCV001859339RCV002298949
NM_000059.4(BRCA2):c.7436-12A>G SNV
Germline		 Chr13:32356416 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137561595

2 SubmittersRCV001448657RCV001524719
NM_000059.4(BRCA2):c.7767C>T (p.Pro2589=) SNV
Germline		 Chr13:32357891 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072711060

5 SubmittersRCV001440096RCV001800995RCV002414049RCV003230674RCV004007012
NM_000059.4(BRCA2):c.10013C>A (p.Ser3338Ter) SNV
Germline		 Chr13:32398526 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593202166

4 SubmittersRCV001465636RCV002272472RCV003327517RCV004038643
NM_007294.4(BRCA1):c.2358G>A (p.Leu786=) SNV
Germline		 Chr17:43093173 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053774346

2 SubmittersRCV001454344RCV002259128
NM_000059.4(BRCA2):c.-13A>G SNV
Germline		 Chr13:32316448 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2138697841

2 SubmittersRCV001494149RCV004007184
NM_000059.4(BRCA2):c.6841+8T>G SNV
Germline		 Chr13:32341204 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2137531137

3 SubmittersRCV001482271RCV001801000RCV001810739
NM_000059.4(BRCA2):c.10225C>T (p.Gln3409Ter) SNV
Germline		 Chr13:32398738 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_2137667834

3 SubmittersRCV001493315RCV002432384RCV003331170
NM_000059.4(BRCA2):c.883G>A (p.Val295Ile) SNV
Germline		 Chr13:32332361 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1254525537

4 SubmittersRCV001526230RCV002568121RCV004528506
NM_000059.4(BRCA2):c.6393A>T (p.Lys2131Asn) SNV
Germline		 Chr13:32340748 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_765669556

4 SubmittersRCV001525253RCV001873661
NM_000059.4(BRCA2):c.7956G>A (p.Val2652=) SNV
Germline		 Chr13:32362673 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137577856

3 SubmittersRCV001524625RCV002071881
NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val) SNV
Germline		 Chr13:32363445 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80359071

3 SubmittersRCV001524453RCV001872034
NM_000059.4(BRCA2):c.9219C>T (p.Asp3073=) SNV
Germline		 Chr13:32380108 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2137625533

5 SubmittersRCV001524027RCV003478866RCV003645232RCV004007249
NM_007294.4(BRCA1):c.3808T>C (p.Cys1270Arg) SNV
Germline		 Chr17:43091723 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154285914

4 SubmittersRCV001524990RCV003771594
NM_007294.4(BRCA1):c.2146A>G (p.Ser716Gly) SNV
Germline		 Chr17:43093385 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053817086

3 SubmittersRCV001525954RCV002568832
NM_007294.4(BRCA1):c.1855C>T (p.His619Tyr) SNV
Germline		 Chr17:43093676 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_773212667

4 SubmittersRCV001524189RCV003399323RCV003315259
NM_007294.4(BRCA1):c.1206G>T (p.Glu402Asp) SNV
Germline		 Chr17:43094325 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1283231905

4 SubmittersRCV001526082RCV001873688
NM_007294.4(BRCA1):c.135-15C>A SNV
Germline		 Chr17:43106548 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507185

2 SubmittersRCV001525974RCV002070331
NM_000059.4(BRCA2):c.2419G>A (p.Val807Ile) SNV
Germline		 Chr13:32336774 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137486258

3 SubmittersRCV001527056RCV003158899RCV003530194
NM_000059.4(BRCA2):c.9257-12T>C SNV
Germline		 Chr13:32394677 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2137651662

3 SubmittersRCV001532975RCV002568218RCV004008918
NM_000059.4(BRCA2):c.5632A>C (p.Asn1878His) SNV
Germline		 Chr13:32339987 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397507358

4 SubmittersRCV001552453RCV001882631RCV002343725
NM_007294.4(BRCA1):c.1996C>A (p.Leu666Ile) SNV
Germline		 Chr17:43093535 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1555590709

7 SubmittersRCV001562842RCV001865983RCV002258303RCV004008935
NM_007294.4(BRCA1):c.1395T>G (p.Tyr465Ter) SNV
Germline		 Chr17:43094136 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2154448397

3 SubmittersRCV001568996RCV002388605RCV002569044
NM_000059.4(BRCA2):c.9502-40T>A SNV
Germline		 Chr13:32396858 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_563731281

3 SubmittersRCV001576751RCV002256822RCV002568492
NM_000059.4(BRCA2):c.4034A>G (p.Asp1345Gly) SNV
Germline		 Chr13:32338389 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137502285

3 SubmittersRCV001581786RCV001866138RCV003158907
NM_000059.4(BRCA2):c.1897A>G (p.Asn633Asp) SNV
Germline		 Chr13:32333375 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002820189RCV003157256
NM_000059.4(BRCA2):c.5017A>T (p.Thr1673Ser) SNV
Germline		 Chr13:32339372 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002343124RCV003096566
NM_000059.4(BRCA2):c.9199C>T (p.Pro3067Ser) SNV
Germline		 Chr13:32380088 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_769635024

2 SubmittersRCV002111247RCV002372904
NM_000059.4(BRCA2):c.151G>T (p.Glu51Ter) SNV
Germline		 Chr13:32319160 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003079158
NM_000059.4(BRCA2):c.3795T>A (p.Cys1265Ter) SNV
Germline		 Chr13:32338150 Pathogenic Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002635358RCV003464574
NM_000059.4(BRCA2):c.4126G>T (p.Gly1376Ter) SNV
Germline		 Chr13:32338481 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2137503142

2 SubmittersRCV001994544RCV003348688
NM_000059.4(BRCA2):c.4729G>T (p.Glu1577Ter) SNV
Germline		 Chr13:32339084 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003062574
NM_000059.4(BRCA2):c.5467A>T (p.Lys1823Ter) SNV
Germline		 Chr13:32339822 Pathogenic Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter
 rs_276174858

2 SubmittersRCV002250809RCV003094069
NM_000059.4(BRCA2):c.6193C>T (p.Gln2065Ter) SNV
Germline		 Chr13:32340548 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003644824
NM_000059.4(BRCA2):c.7252A>T (p.Arg2418Ter) SNV
Germline		 Chr13:32355105 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_80358953

1 SubmittersRCV001877120
NM_000059.4(BRCA2):c.7588C>T (p.Gln2530Ter) SNV
Germline		 Chr13:32356580 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003062578
NM_000059.4(BRCA2):c.7969A>T (p.Lys2657Ter) SNV
Germline		 Chr13:32362686 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003087398
NM_000059.4(BRCA2):c.8827C>T (p.Gln2943Ter) SNV
Germline		 Chr13:32379389 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2137619580

2 SubmittersRCV001946769RCV003388847
NM_000059.4(BRCA2):c.8632+2T>C SNV
Germline		 Chr13:32371102 Pathogenic Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_397507998

3 SubmittersRCV001963311RCV003475260RCV003991046
NM_000059.4(BRCA2):c.9117+2T>G SNV
Germline		 Chr13:32379915 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002635360
NM_007294.4(BRCA1):c.2008G>T (p.Glu670Ter) SNV
Germline		 Chr17:43093523 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_80357029

1 SubmittersRCV002222207
NM_007294.4(BRCA1):c.4656C>A (p.Tyr1552Ter) SNV
Germline		 Chr17:43074350 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003644835
NM_007294.4(BRCA1):c.4185+2T>G SNV
Germline		 Chr17:43090942 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003074987
NM_000059.4(BRCA2):c.6464T>G (p.Leu2155Arg) SNV
Germline		 Chr13:32340819 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137527830

4 SubmittersRCV001730424RCV002032709RCV003158913
NM_007294.4(BRCA1):c.4473A>G (p.Pro1491=) SNV
Germline		 Chr17:43076499 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154058477

2 SubmittersRCV001733314RCV002222208
NM_007294.4(BRCA1):c.948C>A (p.Ser316Arg) SNV
Germline		 Chr17:43094583 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555592782

4 SubmittersRCV001756509RCV002370275RCV003120659
NM_007294.4(BRCA1):c.2129C>T (p.Thr710Ile) SNV
Germline		 Chr17:43093402 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053820830

4 SubmittersRCV001774086RCV002034484RCV002421258
NM_007294.4(BRCA1):c.1837A>C (p.Arg613=) SNV
Germline		 Chr17:43093694 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_863224753

2 SubmittersRCV001767773RCV002077192
NM_007294.4(BRCA1):c.3962C>T (p.Ser1321Phe) SNV
Germline		 Chr17:43091569 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_386833394

3 SubmittersRCV001767404RCV002295347RCV003158920
NM_000059.4(BRCA2):c.1063G>A (p.Val355Ile) SNV
Germline		 Chr13:32332541 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072403612

4 SubmittersRCV001755256RCV002414329RCV002540609
NM_000059.4(BRCA2):c.2925C>G (p.Ile975Met) SNV
Germline		 Chr13:32337280 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282943

3 SubmittersRCV001759209RCV001868709RCV003158928
NM_000059.4(BRCA2):c.2512A>G (p.Lys838Glu) SNV
Germline		 Chr13:32336867 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_747578057

3 SubmittersRCV001759214RCV003158929RCV003530206
NM_000059.4(BRCA2):c.6215C>T (p.Ser2072Phe) SNV
Germline		 Chr13:32340570 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358862

4 SubmittersRCV001885115RCV003237570RCV003158932
NM_007294.4(BRCA1):c.2231C>T (p.Ala744Val) SNV
Germline		 Chr17:43093300 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_786204220

3 SubmittersRCV002034497RCV003158937RCV003238061
NM_000059.4(BRCA2):c.832A>G (p.Ser278Gly) SNV
Germline		 Chr13:32332310 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137465127

4 SubmittersRCV001779527RCV002034539RCV003158943
NM_000059.4(BRCA2):c.8954-2A>G SNV
Germline		 Chr13:32379748 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1135401928

3 SubmittersRCV002222219RCV002255691
NM_007294.4(BRCA1):c.3932A>G (p.Asn1311Ser) SNV
Germline		 Chr17:43091599 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154276206

2 SubmittersRCV002222237RCV003158945
NM_007294.4(BRCA1):c.3259G>A (p.Gly1087Arg) SNV
Germline		 Chr17:43092272 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154334028

2 SubmittersRCV002222238RCV003158946
NM_007294.4(BRCA1):c.1812A>C (p.Lys604Asn) SNV
Germline		 Chr17:43093719 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154420505

2 SubmittersRCV002222241RCV003158947
NM_007294.4(BRCA1):c.1168G>A (p.Asp390Asn) SNV
Germline		 Chr17:43094363 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154472475

3 SubmittersRCV002222243RCV003158948
NM_000059.4(BRCA2):c.682-11A>G SNV
Germline		 Chr13:32330908 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_994470407

3 SubmittersRCV001822005RCV002222256RCV003493874
NM_000059.4(BRCA2):c.6938-19T>C SNV
Germline		 Chr13:32346808 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137541081

2 SubmittersRCV001797938RCV002544354
NM_000059.4(BRCA2):c.4408A>G (p.Ile1470Val) SNV
Germline		 Chr13:32338763 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137506004

4 SubmittersRCV001797967RCV002329759RCV003645236
NM_007294.4(BRCA1):c.1657C>T (p.His553Tyr) SNV
Germline		 Chr17:43093874 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1176222161

4 SubmittersRCV001801021RCV002397749RCV003772203
NM_000059.4(BRCA2):c.1140T>G (p.Ser380Arg) SNV
Germline		 Chr13:32332618 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137468017

3 SubmittersRCV001801044RCV003158950RCV003645237
NM_000059.4(BRCA2):c.5795A>G (p.His1932Arg) SNV
Germline		 Chr13:32340150 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566233236

4 SubmittersRCV001801049RCV002074149RCV002359260
NM_007294.4(BRCA1):c.4806T>G (p.Val1602=) SNV
Germline		 Chr17:43071108 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2153837157

2 SubmittersRCV001801087RCV002541342
NM_007294.4(BRCA1):c.4007G>T (p.Ser1336Ile) SNV
Germline		 Chr17:43091524 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053486331

4 SubmittersRCV001801105RCV001869451RCV002370327
NM_007294.4(BRCA1):c.2853G>A (p.Arg951=) SNV
Germline		 Chr17:43092678 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154356091

2 SubmittersRCV001801115RCV002541344
NM_000059.4(BRCA2):c.3270G>A (p.Met1090Ile) SNV
Germline		 Chr13:32337625 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358574

4 SubmittersRCV001801120RCV001869453RCV002324202
NM_007294.4(BRCA1):c.2098C>G (p.Leu700Val) SNV
Germline		 Chr17:43093433 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_775424259

5 SubmittersRCV001801137RCV002422860RCV003645238RCV004009068
NM_000059.4(BRCA2):c.8223G>A (p.Lys2741=) SNV
Germline		 Chr13:32363425 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072759313

2 SubmittersRCV001801142RCV002541346
NM_000059.4(BRCA2):c.7617+18A>G SNV
Germline		 Chr13:32356627 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137563834

2 SubmittersRCV001806734RCV002541382
NM_007294.4(BRCA1):c.2558A>T (p.Asp853Val) SNV
Germline		 Chr17:43092973 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154371171

3 SubmittersRCV001804494RCV003645239
NM_000059.4(BRCA2):c.5141A>C (p.Tyr1714Ser) SNV
Germline		 Chr13:32339496 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566231796

3 SubmittersRCV001804611RCV002300593
NM_000059.4(BRCA2):c.5320C>T (p.Pro1774Ser) SNV
Germline		 Chr13:32339675 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137516298

3 SubmittersRCV001804679RCV003530210
NM_000059.4(BRCA2):c.4453A>G (p.Ile1485Val) SNV
Germline		 Chr13:32338808 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072504654

3 SubmittersRCV001805343RCV002300595
NM_007294.4(BRCA1):c.2863T>C (p.Ser955Pro) SNV
Germline		 Chr17:43092668 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154355696

3 SubmittersRCV001805400RCV001869540
NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter) SNV
Germline		 Chr13:32339088 Pathogenic/Likely pathogenic Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2137509604

2 SubmittersRCV001806374RCV002541449
NM_000059.4(BRCA2):c.4731A>G (p.Glu1577=) SNV
Germline		 Chr13:32339086 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137509579

3 SubmittersRCV001819639RCV002334709RCV003645240
NM_000059.4(BRCA2):c.4997A>G (p.Asn1666Ser) SNV
Germline		 Chr13:32339352 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1344419982

4 SubmittersRCV001825064RCV002034677RCV003158968
NM_000059.4(BRCA2):c.4093T>C (p.Cys1365Arg) SNV
Germline		 Chr13:32338448 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137502841

4 SubmittersRCV001844635RCV002543321RCV003158969
NM_007294.4(BRCA1):c.3077T>C (p.Ile1026Thr) SNV
Germline		 Chr17:43092454 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154343607

2 SubmittersRCV002028655RCV003157035
NM_000059.4(BRCA2):c.2015G>T (p.Arg672Ile) SNV
Germline		 Chr13:32336370 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137482557

3 SubmittersRCV002028677RCV002423237
NM_007294.4(BRCA1):c.1349A>C (p.Lys450Thr) SNV
Germline		 Chr17:43094182 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_778668550

2 SubmittersRCV002028689RCV003157036
NM_000059.4(BRCA2):c.3964A>C (p.Asn1322His) SNV
Germline		 Chr13:32338319 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_879255449

2 SubmittersRCV001962136RCV003159024
NM_000059.4(BRCA2):c.4397T>C (p.Leu1466Ser) SNV
Germline		 Chr13:32338752 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_886040526

2 SubmittersRCV001962137RCV003159025
NM_000059.4(BRCA2):c.3898A>G (p.Met1300Val) SNV
Germline		 Chr13:32338253 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137501041

2 SubmittersRCV001944934RCV003159026
NM_000059.4(BRCA2):c.4603G>T (p.Ala1535Ser) SNV
Germline		 Chr13:32338958 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2072508845

5 SubmittersRCV001962201RCV003159027RCV003483846
NM_007294.4(BRCA1):c.3289A>G (p.Ser1097Gly) SNV
Germline		 Chr17:43092242 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782864

3 SubmittersRCV001927359RCV002324283
NM_000059.4(BRCA2):c.6824A>T (p.Glu2275Val) SNV
Germline		 Chr13:32341179 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137530962

2 SubmittersRCV001927429RCV003156815
NM_000059.4(BRCA2):c.1072G>T (p.Val358Leu) SNV
Germline		 Chr13:32332550 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555281727

2 SubmittersRCV002008137RCV003156953
NM_007294.4(BRCA1):c.3844G>A (p.Glu1282Lys) SNV
Germline		 Chr17:43091687 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154281717

2 SubmittersRCV001999663RCV003157043
NM_000059.4(BRCA2):c.1682G>A (p.Gly561Glu) SNV
Germline		 Chr13:32333160 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593893593

2 SubmittersRCV002035920RCV003157044
NM_000059.4(BRCA2):c.6391A>C (p.Lys2131Gln) SNV
Germline		 Chr13:32340746 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137527027

2 SubmittersRCV001867484RCV003159033
NM_000059.4(BRCA2):c.6056A>G (p.Asn2019Ser) SNV
Germline		 Chr13:32340411 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137523727

2 SubmittersRCV001867633RCV003159034
NM_007294.4(BRCA1):c.725G>C (p.Ser242Thr) SNV
Germline		 Chr17:43094806 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054059120

2 SubmittersRCV001897290RCV003159062
NM_000059.4(BRCA2):c.2384C>T (p.Ser795Leu) SNV
Germline		 Chr13:32336739 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072456490

3 SubmittersRCV001897331RCV002458716
NM_000059.4(BRCA2):c.4132A>T (p.Thr1378Ser) SNV
Germline		 Chr13:32338487 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1204269313

3 SubmittersRCV001961204RCV002331541
NM_000059.4(BRCA2):c.4798A>C (p.Asn1600His) SNV
Germline		 Chr13:32339153 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_774484160

2 SubmittersRCV001956744RCV003156914
NM_007294.4(BRCA1):c.2797G>T (p.Gly933Cys) SNV
Germline		 Chr17:43092734 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154359101

2 SubmittersRCV001997875RCV003156915
NM_007294.4(BRCA1):c.3990C>G (p.Ser1330Arg) SNV
Germline		 Chr17:43091541 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660808

3 SubmittersRCV001975362RCV003156916
NM_007294.4(BRCA1):c.1385G>A (p.Gly462Glu) SNV
Germline		 Chr17:43094146 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053947222

5 SubmittersRCV001988751RCV002258352
NM_000059.4(BRCA2):c.3781T>A (p.Ser1261Thr) SNV
Germline		 Chr13:32338136 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137499946

2 SubmittersRCV002024315RCV003157071
NM_007294.4(BRCA1):c.1372G>A (p.Asp458Asn) SNV
Germline		 Chr17:43094159 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2154450550

4 SubmittersRCV001920444RCV002386713RCV003478897
NM_007294.4(BRCA1):c.1791A>C (p.Glu597Asp) SNV
Germline		 Chr17:43093740 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_749415463

2 SubmittersRCV001942906RCV003156847
NM_007294.4(BRCA1):c.2624C>T (p.Pro875Leu) SNV
Germline		 Chr17:43092907 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_867654871

2 SubmittersRCV002028044RCV003157079
NM_000059.4(BRCA2):c.5941G>C (p.Ala1981Pro) SNV
Germline		 Chr13:32340296 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137522505

2 SubmittersRCV001880621RCV003159004
NM_007294.4(BRCA1):c.1348A>G (p.Lys450Glu) SNV
Germline		 Chr17:43094183 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053952990

2 SubmittersRCV001893967RCV003159005
NM_000059.4(BRCA2):c.5777G>T (p.Ser1926Ile) SNV
Germline		 Chr13:32340132 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_869320795

2 SubmittersRCV001924889RCV003156792
NM_000059.4(BRCA2):c.4694A>C (p.Lys1565Thr) SNV
Germline		 Chr13:32339049 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137509148

2 SubmittersRCV001978678RCV003156880
NM_000059.4(BRCA2):c.2042T>C (p.Val681Ala) SNV
Germline		 Chr13:32336397 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_1039304689

5 SubmittersRCV001959588RCV002423164RCV002466724RCV002266074
NM_000059.4(BRCA2):c.6938-1G>T SNV
Germline		 Chr13:32346826 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_886040936

1 SubmittersRCV001966213
NM_000059.4(BRCA2):c.3276T>A (p.Phe1092Leu) SNV
Germline		 Chr13:32337631 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137495021

2 SubmittersRCV001970316RCV003156924
NM_000059.4(BRCA2):c.2191G>C (p.Glu731Gln) SNV
Germline		 Chr13:32336546 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137484084

2 SubmittersRCV002031234RCV003157078
NM_000059.4(BRCA2):c.1898A>T (p.Asn633Ile) SNV
Germline		 Chr13:32333376 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137476132

2 SubmittersRCV001966065RCV003156922
NM_007294.4(BRCA1):c.1850C>T (p.Thr617Ile) SNV
Germline		 Chr17:43093681 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154417111

2 SubmittersRCV001959504RCV003156923
NM_000059.4(BRCA2):c.1026A>C (p.Glu342Asp) SNV
Germline		 Chr13:32332504 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_777755589

2 SubmittersRCV001880552RCV003159001
NM_000059.4(BRCA2):c.4847T>C (p.Leu1616Ser) SNV
Germline		 Chr13:32339202 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122786

2 SubmittersRCV001878170RCV003159002
NM_000059.4(BRCA2):c.6186T>A (p.Ser2062Arg) SNV
Germline		 Chr13:32340541 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1315692124

3 SubmittersRCV001880563RCV003159003RCV003227042
NM_000059.4(BRCA2):c.1546T>A (p.Phe516Ile) SNV
Germline		 Chr13:32333024 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137472549

2 SubmittersRCV001989324RCV003156997
NM_000059.4(BRCA2):c.6239T>C (p.Leu2080Ser) SNV
Germline		 Chr13:32340594 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_80358864

4 SubmittersRCV002048855RCV002361413RCV004011176
NM_007294.4(BRCA1):c.2024C>T (p.Ala675Val) SNV
Germline		 Chr17:43093507 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154403344

2 SubmittersRCV001887312RCV003156821
NM_000059.4(BRCA2):c.2788T>C (p.Tyr930His) SNV
Germline		 Chr13:32337143 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1168540941

2 SubmittersRCV001919892RCV003156822
NM_000059.4(BRCA2):c.4946A>G (p.Lys1649Arg) SNV
Germline		 Chr13:32339301 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137511956

2 SubmittersRCV001990208RCV003156901
NM_000059.4(BRCA2):c.2701C>G (p.Leu901Val) SNV
Germline		 Chr13:32337056 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072463186

2 SubmittersRCV001993023RCV003156902
NM_007294.4(BRCA1):c.2923C>A (p.Gln975Lys) SNV
Germline		 Chr17:43092608 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357497

2 SubmittersRCV001974165RCV003156961
NM_000059.4(BRCA2):c.4679G>C (p.Ser1560Thr) SNV
Germline		 Chr13:32339034 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137508985

3 SubmittersRCV002048154RCV002337139
NM_000059.4(BRCA2):c.6268C>G (p.His2090Asp) SNV
Germline		 Chr13:32340623 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1405631299

3 SubmittersRCV002009611RCV003157048
NM_000059.4(BRCA2):c.6779A>G (p.Glu2260Gly) SNV
Germline		 Chr13:32341134 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137530621

3 SubmittersRCV001891783RCV003156825
NM_000059.4(BRCA2):c.2062T>G (p.Tyr688Asp) SNV
Germline		 Chr13:32336417 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137482959

2 SubmittersRCV001867192RCV003158999
NM_000059.4(BRCA2):c.3991T>A (p.Ser1331Thr) SNV
Germline		 Chr13:32338346 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137501854

2 SubmittersRCV001924598RCV003159069
NM_000059.4(BRCA2):c.6580A>T (p.Ile2194Phe) SNV
Germline		 Chr13:32340935 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566234950

2 SubmittersRCV001892684RCV003156788
NM_007294.4(BRCA1):c.4987-1352A>G SNV
Germline		 Chr17:43069047 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2153749819

2 SubmittersRCV001892755RCV003303290
NM_000059.4(BRCA2):c.5470A>C (p.Asn1824His) SNV
Germline		 Chr13:32339825 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2137517808

4 SubmittersRCV001948936RCV002344089RCV004010949
NM_000059.4(BRCA2):c.3733G>A (p.Glu1245Lys) SNV
Germline		 Chr13:32338088 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137499510

2 SubmittersRCV001984314RCV003156993
NM_000059.4(BRCA2):c.1853C>T (p.Ala618Val) SNV
Germline		 Chr13:32333331 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137475672

3 SubmittersRCV001984376RCV003156994
NM_000059.4(BRCA2):c.6387A>T (p.Glu2129Asp) SNV
Germline		 Chr13:32340742 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137526976

2 SubmittersRCV001986618RCV003156995
NM_000059.4(BRCA2):c.3185C>T (p.Pro1062Leu) SNV
Germline		 Chr13:32337540 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_564316199

3 SubmittersRCV002030892RCV003157076RCV004011166
NM_000059.4(BRCA2):c.934T>G (p.Phe312Val) SNV
Germline		 Chr13:32332412 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137466032

2 SubmittersRCV002030938RCV003157077
NM_000059.4(BRCA2):c.8488-1G>C SNV
Germline		 Chr13:32370955 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_397507404

1 SubmittersRCV002027715
NM_000059.4(BRCA2):c.2533C>T (p.Pro845Ser) SNV
Germline		 Chr13:32336888 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137487455

3 SubmittersRCV002030970RCV002454314
NM_007294.4(BRCA1):c.2842G>A (p.Gly948Arg) SNV
Germline		 Chr17:43092689 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154356683

2 SubmittersRCV001923376RCV003156849
NM_007294.4(BRCA1):c.790A>G (p.Ser264Gly) SNV
Germline		 Chr17:43094741 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_397509321

2 SubmittersRCV001872181RCV003159006
NM_007294.4(BRCA1):c.2824G>C (p.Ala942Pro) SNV
Germline		 Chr17:43092707 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154357673

2 SubmittersRCV001881626RCV003156795
NM_000059.4(BRCA2):c.5024G>T (p.Cys1675Phe) SNV
Germline		 Chr13:32339379 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137512936

2 SubmittersRCV001905864RCV003156796
NM_000059.4(BRCA2):c.2534C>T (p.Pro845Leu) SNV
Germline		 Chr13:32336889 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1288748311

2 SubmittersRCV001945165RCV003156850
NM_000059.4(BRCA2):c.4753A>T (p.Ile1585Phe) SNV
Germline		 Chr13:32339108 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137509864

2 SubmittersRCV001945252RCV003156851
NM_000059.4(BRCA2):c.1031C>T (p.Ser344Phe) SNV
Germline		 Chr13:32332509 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1593891776

3 SubmittersRCV001969080RCV003156927RCV004011011
NM_000059.4(BRCA2):c.1597A>C (p.Thr533Pro) SNV
Germline		 Chr13:32333075 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555281980

2 SubmittersRCV001970707RCV003156928
NM_000059.4(BRCA2):c.2041G>A (p.Val681Ile) SNV
Germline		 Chr13:32336396 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072449369

2 SubmittersRCV001993721RCV003156929
NM_007294.4(BRCA1):c.3444G>T (p.Glu1148Asp) SNV
Germline		 Chr17:43092087 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154315177

2 SubmittersRCV001970753RCV003156930
NM_000059.4(BRCA2):c.2621C>G (p.Thr874Ser) SNV
Germline		 Chr13:32336976 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137488252

2 SubmittersRCV001991775RCV003157006
NM_007294.4(BRCA1):c.3374C>G (p.Ser1125Cys) SNV
Germline		 Chr17:43092157 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555587835

2 SubmittersRCV001872577RCV003159010
NM_000059.4(BRCA2):c.5905G>C (p.Val1969Leu) SNV
Germline		 Chr13:32340260 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566233487

2 SubmittersRCV001907263RCV003159011
NM_000059.4(BRCA2):c.9670A>C (p.Ile3224Leu) SNV
Germline		 Chr13:32398183 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_374321381

2 SubmittersRCV001894282RCV004039664
NM_007294.4(BRCA1):c.3509T>C (p.Ile1170Thr) SNV
Germline		 Chr17:43092022 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_780869838

2 SubmittersRCV001968810RCV003156926
NM_000059.4(BRCA2):c.6266A>C (p.Glu2089Ala) SNV
Germline		 Chr13:32340621 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137525811

2 SubmittersRCV002015365RCV003157002
NM_000059.4(BRCA2):c.3010A>C (p.Ser1004Arg) SNV
Germline		 Chr13:32337365 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122759

2 SubmittersRCV001991567RCV003157003
NM_000059.4(BRCA2):c.3335C>T (p.Thr1112Ile) SNV
Germline		 Chr13:32337690 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137495566

2 SubmittersRCV001991570RCV003157004
NM_007294.4(BRCA1):c.1753G>C (p.Glu585Gln) SNV
Germline		 Chr17:43093778 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154426325

2 SubmittersRCV002015379RCV003157005
NM_007294.4(BRCA1):c.3031G>T (p.Glu1011Ter) SNV
Germline		 Chr17:43092500 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_876659974

1 SubmittersRCV001994555
NM_007294.4(BRCA1):c.3274G>T (p.Glu1092Ter) SNV
Germline		 Chr17:43092257 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_876658360

1 SubmittersRCV001999878
NM_000059.4(BRCA2):c.2202G>T (p.Leu734Phe) SNV
Germline		 Chr13:32336557 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137484178

2 SubmittersRCV002009893RCV003156966
NM_000059.4(BRCA2):c.843C>A (p.Asp281Glu) SNV
Germline		 Chr13:32332321 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137465225

2 SubmittersRCV001991189RCV003156967
NM_007294.4(BRCA1):c.3880A>G (p.Ser1294Gly) SNV
Germline		 Chr17:43091651 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154279207

2 SubmittersRCV001899659RCV003159040
NM_000059.4(BRCA2):c.1878A>C (p.Glu626Asp) SNV
Germline		 Chr13:32333356 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137475937

2 SubmittersRCV001864669RCV003159041
NM_000059.4(BRCA2):c.1707G>T (p.Gln569His) SNV
Germline		 Chr13:32333185 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282027

3 SubmittersRCV001917771RCV002397869
NM_007294.4(BRCA1):c.2767G>A (p.Val923Ile) SNV
Germline		 Chr17:43092764 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1324340897

2 SubmittersRCV001929525RCV003156863
NM_000059.4(BRCA2):c.5233A>T (p.Met1745Leu) SNV
Germline		 Chr13:32339588 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786202206

2 SubmittersRCV001929540RCV003156864
NM_007294.4(BRCA1):c.1024C>A (p.Leu342Met) SNV
Germline		 Chr17:43094507 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154479720

2 SubmittersRCV001929611RCV003156865
NM_000059.4(BRCA2):c.8417C>A (p.Ser2806Ter) SNV
Germline		 Chr13:32370487 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_587782785

1 SubmittersRCV001960599
NM_000059.4(BRCA2):c.7729A>T (p.Lys2577Ter) SNV
Germline		 Chr13:32357853 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137567147

1 SubmittersRCV001939430
NM_000059.4(BRCA2):c.3692C>T (p.Thr1231Ile) SNV
Germline		 Chr13:32338047 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137499081

2 SubmittersRCV001988398RCV003156972
NM_000059.4(BRCA2):c.4223A>G (p.Gln1408Arg) SNV
Germline		 Chr13:32338578 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_762778002

3 SubmittersRCV001871298RCV003156793
NM_000059.4(BRCA2):c.6197T>C (p.Val2066Ala) SNV
Germline		 Chr13:32340552 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137525153

2 SubmittersRCV001989695RCV003156998
NM_007294.4(BRCA1):c.3183A>G (p.Ile1061Met) SNV
Germline		 Chr17:43092348 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154338105

2 SubmittersRCV001999074RCV003156999
NM_000059.4(BRCA2):c.1961A>G (p.Glu654Gly) SNV
Germline		 Chr13:32336316 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072447912

2 SubmittersRCV002046528RCV003157080
NM_000059.4(BRCA2):c.2753A>G (p.Asn918Ser) SNV
Germline		 Chr13:32337108 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137489532

2 SubmittersRCV001961313RCV003156931
NM_000059.4(BRCA2):c.6686A>C (p.Glu2229Ala) SNV
Germline		 Chr13:32341041 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072562512

2 SubmittersRCV001872295RCV003159007
NM_000059.4(BRCA2):c.899T>C (p.Val300Ala) SNV
Germline		 Chr13:32332377 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555281625

3 SubmittersRCV001947750RCV003156853
NM_007294.4(BRCA1):c.833C>T (p.Thr278Ile) SNV
Germline		 Chr17:43094698 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154490731

2 SubmittersRCV001960380RCV003156883
NM_007294.4(BRCA1):c.1585C>T (p.Pro529Ser) SNV
Germline		 Chr17:43093946 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_769380445

2 SubmittersRCV001987425RCV003156884
NM_000059.4(BRCA2):c.2257T>G (p.Phe753Val) SNV
Germline		 Chr13:32336612 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_878853562

2 SubmittersRCV001953379RCV003156885
NM_000059.4(BRCA2):c.5056T>G (p.Leu1686Val) SNV
Germline		 Chr13:32339411 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137513514

2 SubmittersRCV001960449RCV003156886
NM_000059.4(BRCA2):c.1060T>C (p.Phe354Leu) SNV
Germline		 Chr13:32332538 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1318579197

4 SubmittersRCV001973273RCV003156934RCV004011016
NM_007294.4(BRCA1):c.2036A>G (p.Lys679Arg) SNV
Germline		 Chr17:43093495 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053838870

2 SubmittersRCV001973278RCV003156935
NM_000059.4(BRCA2):c.1938C>G (p.Ser646Arg) SNV
Germline		 Chr13:32336293 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_28897711

3 SubmittersRCV001996427RCV003157016
NM_007294.4(BRCA1):c.1520G>A (p.Arg507Lys) SNV
Germline		 Chr17:43094011 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357224

3 SubmittersRCV001996509RCV003157017
NM_000059.4(BRCA2):c.4013G>A (p.Gly1338Asp) SNV
Germline		 Chr13:32338368 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137502060

2 SubmittersRCV001900180RCV003159016
NM_000059.4(BRCA2):c.6341C>T (p.Pro2114Leu) SNV
Germline		 Chr13:32340696 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593908321

3 SubmittersRCV001932324RCV002361112
NM_007294.4(BRCA1):c.1557G>C (p.Lys519Asn) SNV
Germline		 Chr17:43093974 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154437017

3 SubmittersRCV001898124RCV003156801
NM_000059.4(BRCA2):c.1157A>T (p.Glu386Val) SNV
Germline		 Chr13:32332635 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137468194

2 SubmittersRCV001875646RCV003156800
NM_000059.4(BRCA2):c.4298G>T (p.Gly1433Val) SNV
Germline		 Chr13:32338653 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_758795405

2 SubmittersRCV001933183RCV003156852
NM_000059.4(BRCA2):c.6680C>T (p.Ala2227Val) SNV
Germline		 Chr13:32341035 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2137529724

3 SubmittersRCV001964033RCV003156933RCV003154052
NM_000059.4(BRCA2):c.6097A>C (p.Ile2033Leu) SNV
Germline		 Chr13:32340452 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_772846629

2 SubmittersRCV002019855RCV003157013
NM_000059.4(BRCA2):c.5135G>C (p.Gly1712Ala) SNV
Germline		 Chr13:32339490 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1453037467

2 SubmittersRCV001996274RCV003157014
NM_007294.4(BRCA1):c.968G>C (p.Gly323Ala) SNV
Germline		 Chr17:43094563 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054014720

2 SubmittersRCV001996281RCV003157015
NM_000059.4(BRCA2):c.3597C>G (p.Asp1199Glu) SNV
Germline		 Chr13:32337952 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_192892005

2 SubmittersRCV001932070RCV003159015
NM_000059.4(BRCA2):c.6480A>G (p.Gln2160=) SNV
Germline		 Chr13:32340835 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137527978

2 SubmittersRCV001898098RCV002359363
NM_000059.4(BRCA2):c.2099T>G (p.Leu700Ter) SNV
Germline		 Chr13:32336454 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1555282449

1 SubmittersRCV001938282
NM_000059.4(BRCA2):c.5375C>T (p.Ser1792Phe) SNV
Germline		 Chr13:32339730 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555284200

2 SubmittersRCV002014259RCV003157055
NM_007294.4(BRCA1):c.781T>A (p.Tyr261Asn) SNV
Germline		 Chr17:43094750 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054049254

2 SubmittersRCV002014424RCV003157056
NM_000059.4(BRCA2):c.5625G>C (p.Lys1875Asn) SNV
Germline		 Chr13:32339980 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1316343192

2 SubmittersRCV002043287RCV003157057
NM_000059.4(BRCA2):c.3888T>G (p.Asn1296Lys) SNV
Germline		 Chr13:32338243 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137500977

2 SubmittersRCV002049995RCV003158974
NM_007294.4(BRCA1):c.1662G>T (p.Glu554Asp) SNV
Germline		 Chr17:43093869 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876659028

2 SubmittersRCV002050007RCV003158975
NM_007294.4(BRCA1):c.3541G>C (p.Val1181Leu) SNV
Germline		 Chr17:43091990 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_56336919

2 SubmittersRCV002029826RCV003158976
NM_000059.4(BRCA2):c.5954C>A (p.Ser1985Tyr) SNV
Germline		 Chr13:32340309 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1272409475

3 SubmittersRCV002050073RCV002359282
NM_000059.4(BRCA2):c.3476G>A (p.Cys1159Tyr) SNV
Germline		 Chr13:32337831 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137496967

2 SubmittersRCV001882941RCV003159043
NM_000059.4(BRCA2):c.5302C>T (p.Leu1768Phe) SNV
Germline		 Chr13:32339657 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137516131

3 SubmittersRCV001936292RCV002344067
NM_000059.4(BRCA2):c.6829C>A (p.Leu2277Ile) SNV
Germline		 Chr13:32341184 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786202214

3 SubmittersRCV002003209RCV003156976
NM_000059.4(BRCA2):c.6098T>C (p.Ile2033Thr) SNV
Germline		 Chr13:32340453 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122548

4 SubmittersRCV001950728RCV002352624
NM_000059.4(BRCA2):c.3397C>A (p.Pro1133Thr) SNV
Germline		 Chr13:32337752 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786202430

2 SubmittersRCV001968035RCV003156881
NM_000059.4(BRCA2):c.1567C>A (p.His523Asn) SNV
Germline		 Chr13:32333045 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072416501

3 SubmittersRCV002028579RCV002398074
NM_000059.4(BRCA2):c.3764T>C (p.Val1255Ala) SNV
Germline		 Chr13:32338119 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593900450

2 SubmittersRCV001992068RCV003157007
NM_007294.4(BRCA1):c.808C>G (p.His270Asp) SNV
Germline		 Chr17:43094723 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054044790

2 SubmittersRCV001992209RCV003157008
NM_000059.4(BRCA2):c.6660A>C (p.Glu2220Asp) SNV
Germline		 Chr13:32341015 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137529521

2 SubmittersRCV001982484RCV003156889
NM_000059.4(BRCA2):c.1205G>T (p.Gly402Val) SNV
Germline		 Chr13:32332683 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566223012

2 SubmittersRCV001982500RCV003156890
NM_000059.4(BRCA2):c.3592A>G (p.Asn1198Asp) SNV
Germline		 Chr13:32337947 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137498140

2 SubmittersRCV002002835RCV003156940
NM_000059.4(BRCA2):c.5530T>C (p.Phe1844Leu) SNV
Germline		 Chr13:32339885 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072531391

3 SubmittersRCV002002838RCV002344145
NM_000059.4(BRCA2):c.2962G>C (p.Asp988His) SNV
Germline		 Chr13:32337317 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593898237

2 SubmittersRCV002012991RCV003157020
NM_000059.4(BRCA2):c.6775A>G (p.Asn2259Asp) SNV
Germline		 Chr13:32341130 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137530592

2 SubmittersRCV002013267RCV003157021
NM_000059.4(BRCA2):c.1234C>G (p.Pro412Ala) SNV
Germline		 Chr13:32332712 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555281787

2 SubmittersRCV001937388RCV003159019
NM_007294.4(BRCA1):c.2170C>T (p.Pro724Ser) SNV
Germline		 Chr17:43093361 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154395681

2 SubmittersRCV001937421RCV003159020
NM_000059.4(BRCA2):c.1633G>C (p.Val545Leu) SNV
Germline		 Chr13:32333111 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137473390

2 SubmittersRCV001882052RCV003156806
NM_000059.4(BRCA2):c.2566A>C (p.Asn856His) SNV
Germline		 Chr13:32336921 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137487755

2 SubmittersRCV001931174RCV003156855
NM_007294.4(BRCA1):c.3488C>G (p.Thr1163Ser) SNV
Germline		 Chr17:43092043 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80356918

2 SubmittersRCV001910435RCV003156856
NM_007294.4(BRCA1):c.2468G>A (p.Arg823Lys) SNV
Germline		 Chr17:43093063 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876659731

2 SubmittersRCV001992809RCV003156892
NM_000059.4(BRCA2):c.2217C>G (p.His739Gln) SNV
Germline		 Chr13:32336572 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1131692117

2 SubmittersRCV001987656RCV003156893
NM_007294.4(BRCA1):c.1242C>A (p.Asp414Glu) SNV
Germline		 Chr17:43094289 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_372400428

2 SubmittersRCV001970868RCV003156947
NM_000059.4(BRCA2):c.4424T>G (p.Met1475Arg) SNV
Germline		 Chr13:32338779 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072503948

3 SubmittersRCV001970885RCV002331552
NM_007294.4(BRCA1):c.1757C>T (p.Pro586Leu) SNV
Germline		 Chr17:43093774 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1064795270

4 SubmittersRCV001955872RCV002282663RCV002397990
NM_007294.4(BRCA1):c.3423T>A (p.His1141Gln) SNV
Germline		 Chr17:43092108 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_863224419

2 SubmittersRCV001982395RCV003156888
NM_007294.4(BRCA1):c.1349A>G (p.Lys450Arg) SNV
Germline		 Chr17:43094182 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_778668550

5 SubmittersRCV002002719RCV003156938RCV003481230RCV003493900
NM_000059.4(BRCA2):c.5476G>A (p.Ala1826Thr) SNV
Germline		 Chr13:32339831 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072530360

2 SubmittersRCV001967012RCV003156939
NM_007294.4(BRCA1):c.3687G>T (p.Leu1229Phe) SNV
Germline		 Chr17:43091844 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154294699

2 SubmittersRCV002010638RCV003157019
NM_000059.4(BRCA2):c.2755G>T (p.Glu919Ter) SNV
Germline		 Chr13:32337110 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_431825298

2 SubmittersRCV001931060RCV003585155
NM_000059.4(BRCA2):c.848T>G (p.Ile283Ser) SNV
Germline		 Chr13:32332326 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_730881507

3 SubmittersRCV001954508RCV002449594
NM_000059.4(BRCA2):c.6596C>G (p.Thr2199Ser) SNV
Germline		 Chr13:32340951 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137528906

2 SubmittersRCV001977502RCV003156946
NM_000059.4(BRCA2):c.4711G>A (p.Glu1571Lys) SNV
Germline		 Chr13:32339066 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137509353

3 SubmittersRCV002005312RCV002334996
NM_007294.4(BRCA1):c.679G>A (p.Glu227Lys) SNV
Germline		 Chr17:43094852 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_879255319

3 SubmittersRCV001879666RCV003159046
NM_000059.4(BRCA2):c.6127A>G (p.Lys2043Glu) SNV
Germline		 Chr13:32340482 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137524563

2 SubmittersRCV001883393RCV003159047
NM_000059.4(BRCA2):c.4974G>C (p.Gln1658His) SNV
Germline		 Chr13:32339329 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555284012

2 SubmittersRCV001925250RCV003156830
NM_000059.4(BRCA2):c.1432A>T (p.Thr478Ser) SNV
Germline		 Chr13:32332910 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137471409

2 SubmittersRCV001925257RCV003156831
NM_000059.4(BRCA2):c.1910-2A>G SNV
Germline		 Chr13:32336263 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1228762581

1 SubmittersRCV001953705
NM_007294.4(BRCA1):c.3192T>G (p.Ser1064Arg) SNV
Germline		 Chr17:43092339 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154337710

2 SubmittersRCV002008365RCV003156980
NM_000059.4(BRCA2):c.5093T>C (p.Phe1698Ser) SNV
Germline		 Chr13:32339448 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1224120349

4 SubmittersRCV002008386RCV002335016RCV004011062
NM_000059.4(BRCA2):c.6652G>A (p.Asp2218Asn) SNV
Germline		 Chr13:32341007 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_730881547

3 SubmittersRCV002047007RCV003483842RCV003158984
NM_007294.4(BRCA1):c.1726A>G (p.Lys576Glu) SNV
Germline		 Chr17:43093805 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154427861

2 SubmittersRCV002047045RCV003158985
NM_000059.4(BRCA2):c.6484A>G (p.Lys2162Glu) SNV
Germline		 Chr13:32340839 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555284717

2 SubmittersRCV001964304RCV003156936
NM_000059.4(BRCA2):c.1892T>C (p.Phe631Ser) SNV
Germline		 Chr13:32333370 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137476085

2 SubmittersRCV001901958RCV003159017
NM_000059.4(BRCA2):c.2462T>G (p.Val821Gly) SNV
Germline		 Chr13:32336817 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587779361

2 SubmittersRCV001917583RCV003156802
NM_000059.4(BRCA2):c.3098A>G (p.Asp1033Gly) SNV
Germline		 Chr13:32337453 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_141702094

4 SubmittersRCV001890966RCV003156803RCV004010779
NM_007294.4(BRCA1):c.3556C>A (p.Leu1186Ile) SNV
Germline		 Chr17:43091975 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555587505

2 SubmittersRCV001891104RCV003156804
NM_007294.4(BRCA1):c.3656A>G (p.Glu1219Gly) SNV
Germline		 Chr17:43091875 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154296539

2 SubmittersRCV002004986RCV003156941
NM_000059.4(BRCA2):c.4538A>G (p.Asp1513Gly) SNV
Germline		 Chr13:32338893 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566230577

2 SubmittersRCV001976028RCV003156942
NM_000059.4(BRCA2):c.2588A>G (p.Asn863Ser) SNV
Germline		 Chr13:32336943 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_760880622

3 SubmittersRCV002013343RCV003157022
NM_007294.4(BRCA1):c.2117C>G (p.Pro706Arg) SNV
Germline		 Chr17:43093414 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_759655692

2 SubmittersRCV002019867RCV003157023
NM_000059.4(BRCA2):c.6791T>C (p.Leu2264Ser) SNV
Germline		 Chr13:32341146 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1364062389

2 SubmittersRCV002019869RCV003157024
NM_007294.4(BRCA1):c.3500A>C (p.Glu1167Ala) SNV
Germline		 Chr17:43092031 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154308012

2 SubmittersRCV002010807RCV003157025
NM_000059.4(BRCA2):c.2496G>T (p.Glu832Asp) SNV
Germline		 Chr13:32336851 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786201479

2 SubmittersRCV001927214RCV003156814
NM_000059.4(BRCA2):c.5156A>G (p.Asn1719Ser) SNV
Germline		 Chr13:32339511 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1179768667

3 SubmittersRCV001997041RCV002334960
NM_000059.4(BRCA2):c.5059C>T (p.Leu1687Phe) SNV
Germline		 Chr13:32339414 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1408726129

3 SubmittersRCV001997076RCV003156897RCV004010976
NM_000059.4(BRCA2):c.4086C>G (p.His1362Gln) SNV
Germline		 Chr13:32338441 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_760304057

2 SubmittersRCV001976325RCV003156951
NM_000059.4(BRCA2):c.6142A>C (p.Asn2048His) SNV
Germline		 Chr13:32340497 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1367585890

2 SubmittersRCV002011176RCV003157029
NM_000059.4(BRCA2):c.2794G>T (p.Asp932Tyr) SNV
Germline		 Chr13:32337149 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137489980

2 SubmittersRCV002011210RCV003157030
NM_000059.4(BRCA2):c.3455T>C (p.Leu1152Ser) SNV
Germline		 Chr13:32337810 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358593

2 SubmittersRCV002011219RCV003157031
NM_007294.4(BRCA1):c.2744C>G (p.Ser915Cys) SNV
Germline		 Chr17:43092787 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1222778457

2 SubmittersRCV002011224RCV003157032
NM_000059.4(BRCA2):c.4654G>C (p.Gly1552Arg) SNV
Germline		 Chr13:32339009 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566230890

3 SubmittersRCV002022810RCV002337130
NM_007294.4(BRCA1):c.1510C>G (p.Arg504Gly) SNV
Germline		 Chr17:43094021 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357445

2 SubmittersRCV001932551RCV003159030
NM_000059.4(BRCA2):c.3229G>C (p.Val1077Leu) SNV
Germline		 Chr13:32337584 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137494548

2 SubmittersRCV001947515RCV003159031
NM_000059.4(BRCA2):c.1306A>C (p.Lys436Gln) SNV
Germline		 Chr13:32332784 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137469924

3 SubmittersRCV001942686RCV002386625
NM_000059.4(BRCA2):c.6742C>G (p.His2248Asp) SNV
Germline		 Chr13:32341097 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1350512388

2 SubmittersRCV001912438RCV003156813
NM_000059.4(BRCA2):c.4804A>T (p.Lys1602Ter) SNV
Germline		 Chr13:32339159 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_1566231167

2 SubmittersRCV001896552
NM_007294.4(BRCA1):c.3698A>C (p.Lys1233Thr) SNV
Germline		 Chr17:43091833 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357141

3 SubmittersRCV002344105RCV002012016
NM_000059.4(BRCA2):c.4676T>A (p.Phe1559Tyr) SNV
Germline		 Chr13:32339031 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060502411

2 SubmittersRCV002007838RCV003156949
NM_000059.4(BRCA2):c.5444C>A (p.Thr1815Asn) SNV
Germline		 Chr13:32339799 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782031

2 SubmittersRCV001976181RCV003156950
NM_000059.4(BRCA2):c.3785C>T (p.Ser1262Leu) SNV
Germline		 Chr13:32338140 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358620

3 SubmittersRCV002022530RCV002346275
NM_007294.4(BRCA1):c.1625A>G (p.Asn542Ser) SNV
Germline		 Chr17:43093906 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154433378

3 SubmittersRCV001947125RCV003159028
NM_007294.4(BRCA1):c.2948T>G (p.Leu983Arg) SNV
Germline		 Chr17:43092583 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154350949

2 SubmittersRCV001962261RCV003159029
NM_000059.4(BRCA2):c.6154T>A (p.Ser2052Thr) SNV
Germline		 Chr13:32340509 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566234040

2 SubmittersRCV001901734RCV003156834
NM_007294.4(BRCA1):c.3970A>G (p.Met1324Val) SNV
Germline		 Chr17:43091561 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782241

2 SubmittersRCV001927805RCV003156835
NM_007294.4(BRCA1):c.2512A>G (p.Asn838Asp) SNV
Germline		 Chr17:43093019 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154373420

2 SubmittersRCV001940939RCV003156872
NM_000059.4(BRCA2):c.4048C>G (p.His1350Asp) SNV
Germline		 Chr13:32338403 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137502442

2 SubmittersRCV002030750RCV003156983
NM_007294.4(BRCA1):c.2150A>G (p.Glu717Gly) SNV
Germline		 Chr17:43093381 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154396821

2 SubmittersRCV002048627RCV003157068
NM_007294.4(BRCA1):c.2336C>T (p.Thr779Ile) SNV
Germline		 Chr17:43093195 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_2154382857

4 SubmittersRCV002048684RCV002443059RCV004011153
NM_007294.4(BRCA1):c.1049G>T (p.Arg350Ile) SNV
Germline		 Chr17:43094482 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054001685

2 SubmittersRCV002042340RCV003158988
NM_007294.4(BRCA1):c.770A>G (p.His257Arg) SNV
Germline		 Chr17:43094761 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154493359

2 SubmittersRCV002042342RCV003158989
NM_007294.4(BRCA1):c.2743T>A (p.Ser915Thr) SNV
Germline		 Chr17:43092788 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154361863

3 SubmittersRCV002051505RCV003158990
NM_000059.4(BRCA2):c.6212G>A (p.Ser2071Asn) SNV
Germline		 Chr13:32340567 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_80358861

5 SubmittersRCV001914659RCV002361146RCV004009255
NM_000059.4(BRCA2):c.2053G>A (p.Asp685Asn) SNV
Germline		 Chr13:32336408 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137482881

2 SubmittersRCV001914709RCV003159054
NM_000059.4(BRCA2):c.3665C>T (p.Ala1222Val) SNV
Germline		 Chr13:32338020 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_760071561

2 SubmittersRCV001914727RCV003159055
NM_000059.4(BRCA2):c.1882C>G (p.Pro628Ala) SNV
Germline		 Chr13:32333360 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1163156807

2 SubmittersRCV001905493RCV003159021
NM_007294.4(BRCA1):c.3743C>T (p.Ala1248Val) SNV
Germline		 Chr17:43091788 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1339736533

2 SubmittersRCV001905507RCV003159022
NM_000059.4(BRCA2):c.9136T>C (p.Phe3046Leu) SNV
Germline		 Chr13:32380025 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072912764

2 SubmittersRCV001911155RCV004041439
NM_007294.4(BRCA1):c.2291T>C (p.Val764Ala) SNV
Germline		 Chr17:43093240 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1234701709

3 SubmittersRCV001911179RCV002458742
NM_000059.4(BRCA2):c.2218C>A (p.Pro740Thr) SNV
Germline		 Chr13:32336573 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137484346

2 SubmittersRCV001996707RCV003156894
NM_000059.4(BRCA2):c.3530A>T (p.Asp1177Val) SNV
Germline		 Chr13:32337885 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_761130568

2 SubmittersRCV002045080RCV003157026
NM_007294.4(BRCA1):c.3310A>G (p.Lys1104Glu) SNV
Germline		 Chr17:43092221 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154329912

2 SubmittersRCV002020039RCV003157027
NM_000059.4(BRCA2):c.1610A>C (p.Glu537Ala) SNV
Germline		 Chr13:32333088 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072417616

3 SubmittersRCV002045121RCV002268596RCV003157028
NM_000059.4(BRCA2):c.839A>G (p.Lys280Arg) SNV
Germline		 Chr13:32332317 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1306507591

4 SubmittersRCV001927535RCV002440988RCV004538591
NM_000059.4(BRCA2):c.2437A>G (p.Ile813Val) SNV
Germline		 Chr13:32336792 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137486460

2 SubmittersRCV001891315RCV003156819
NM_000059.4(BRCA2):c.3637G>A (p.Glu1213Lys) SNV
Germline		 Chr13:32337992 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566228876

2 SubmittersRCV002014671RCV003156900
NM_000059.4(BRCA2):c.4976C>T (p.Ser1659Phe) SNV
Germline		 Chr13:32339331 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1222542759

3 SubmittersRCV001971462RCV002335003
NM_000059.4(BRCA2):c.5749T>C (p.Ser1917Pro) SNV
Germline		 Chr13:32340104 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137520531

2 SubmittersRCV001998343RCV003156955
NM_000059.4(BRCA2):c.5139T>G (p.Asn1713Lys) SNV
Germline		 Chr13:32339494 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072521292

2 SubmittersRCV002018720RCV003156956
NM_007294.4(BRCA1):c.3056T>G (p.Ile1019Ser) SNV
Germline		 Chr17:43092475 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154344910

2 SubmittersRCV002020277RCV003157040
NM_007294.4(BRCA1):c.2998G>C (p.Glu1000Gln) SNV
Germline		 Chr17:43092533 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357124

2 SubmittersRCV001874658RCV003159035
NM_007294.4(BRCA1):c.1593G>T (p.Met531Ile) SNV
Germline		 Chr17:43093938 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154434764

2 SubmittersRCV001903240RCV003156824
NM_000059.4(BRCA2):c.1143C>G (p.Asp381Glu) SNV
Germline		 Chr13:32332621 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593892043

2 SubmittersRCV001927459RCV003156816
NM_007294.4(BRCA1):c.901A>G (p.Lys301Glu) SNV
Germline		 Chr17:43094630 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_756859863

2 SubmittersRCV001898640RCV003156817
NM_007294.4(BRCA1):c.4067A>T (p.Gln1356Leu) SNV
Germline		 Chr17:43091464 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154266330

2 SubmittersRCV001901037RCV003156818
NM_000059.4(BRCA2):c.6260G>T (p.Arg2087Ile) SNV
Germline		 Chr13:32340615 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593908026

2 SubmittersRCV001971381RCV003156954
NM_000059.4(BRCA2):c.6367G>C (p.Glu2123Gln) SNV
Germline		 Chr13:32340722 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137526768

2 SubmittersRCV002028964RCV003157037
NM_000059.4(BRCA2):c.4310G>A (p.Ser1437Asn) SNV
Germline		 Chr13:32338665 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1403318277

2 SubmittersRCV002047884RCV003157038
NM_007294.4(BRCA1):c.1925A>T (p.Asp642Val) SNV
Germline		 Chr17:43093606 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786204049

2 SubmittersRCV002047904RCV003157039
NM_007294.4(BRCA1):c.3245C>A (p.Ala1082Asp) SNV
Germline		 Chr17:43092286 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555588115

2 SubmittersRCV001902967RCV003156823
NM_000059.4(BRCA2):c.3041A>G (p.Asn1014Ser) SNV
Germline		 Chr13:32337396 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137492474

2 SubmittersRCV001928985RCV003156860
NM_000059.4(BRCA2):c.6502G>C (p.Gly2168Arg) SNV
Germline		 Chr13:32340857 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_886040660

2 SubmittersRCV001980271RCV003156984
NM_000059.4(BRCA2):c.425+5G>C SNV
Germline		 Chr13:32325189 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome Criteria Provided
Conflicting Classifications
 rs_1388671241

2 SubmittersRCV001980279
NM_000059.4(BRCA2):c.3766C>G (p.His1256Asp) SNV
Germline		 Chr13:32338121 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137499777

2 SubmittersRCV002021321RCV003157070
NM_007294.4(BRCA1):c.3632C>T (p.Ser1211Phe) SNV
Germline		 Chr17:43091899 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555587377

2 SubmittersRCV001869947RCV003158995
NM_000059.4(BRCA2):c.4192G>C (p.Ala1398Pro) SNV
Germline		 Chr13:32338547 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876659902

3 SubmittersRCV001863254RCV003158996
NM_000059.4(BRCA2):c.4481G>T (p.Ser1494Ile) SNV
Germline		 Chr13:32338836 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593902517

2 SubmittersRCV001892275RCV003159057
NM_007294.4(BRCA1):c.3845A>G (p.Glu1282Gly) SNV
Germline		 Chr17:43091686 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_80357217

3 SubmittersRCV001886379RCV003159058RCV004010749
NM_000059.4(BRCA2):c.3919G>A (p.Glu1307Lys) SNV
Germline		 Chr13:32338274 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137501256

2 SubmittersRCV001886432RCV003159059
NM_007294.4(BRCA1):c.1862A>C (p.His621Pro) SNV
Germline		 Chr17:43093669 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053871006

2 SubmittersRCV001895057RCV003159060
NM_000059.4(BRCA2):c.1268T>A (p.Ile423Asn) SNV
Germline		 Chr13:32332746 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137469393

2 SubmittersRCV001909444RCV003156839
NM_007294.4(BRCA1):c.4028A>G (p.Asp1343Gly) SNV
Germline		 Chr17:43091503 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_775339017

2 SubmittersRCV001916853RCV003156857
NM_007294.4(BRCA1):c.3755T>G (p.Leu1252Arg) SNV
Germline		 Chr17:43091776 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555587147

2 SubmittersRCV001917021RCV003156858
NM_007294.4(BRCA1):c.1854G>C (p.Arg618Ser) SNV
Germline		 Chr17:43093677 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060504585

2 SubmittersRCV002012177RCV003156898
NM_007294.4(BRCA1):c.3349G>C (p.Val1117Leu) SNV
Germline		 Chr17:43092182 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154326025

2 SubmittersRCV001977670RCV003156952
NM_000059.4(BRCA2):c.2922C>A (p.Asp974Glu) SNV
Germline		 Chr13:32337277 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_929538989

2 SubmittersRCV002047652RCV003157033
NM_000059.4(BRCA2):c.2212T>C (p.Cys738Arg) SNV
Germline		 Chr13:32336567 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137484294

2 SubmittersRCV002047690RCV003157034
NM_000059.4(BRCA2):c.6798T>G (p.Asn2266Lys) SNV
Germline		 Chr13:32341153 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137530753

2 SubmittersRCV001894573RCV003159032
NM_007294.4(BRCA1):c.2069A>G (p.Lys690Arg) SNV
Germline		 Chr17:43093462 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 rs_2154401162

3 SubmittersRCV001901244RCV003156820RCV003607429
NM_000059.4(BRCA2):c.5395G>A (p.Ala1799Thr) SNV
Germline		 Chr13:32339750 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137517102

3 SubmittersRCV001954716RCV002344052
NM_000059.4(BRCA2):c.6797A>T (p.Asn2266Ile) SNV
Germline		 Chr13:32341152 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072565540

2 SubmittersRCV001928816RCV003156859
NM_000059.4(BRCA2):c.9616C>T (p.Gln3206Ter) SNV
Germline		 Chr13:32397012 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_80359233

1 SubmittersRCV001993327
NM_007294.4(BRCA1):c.2293G>C (p.Glu765Gln) SNV
Germline		 Chr17:43093238 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357449

2 SubmittersRCV001990891RCV003156963
NM_007294.4(BRCA1):c.1094G>C (p.Arg365Thr) SNV
Germline		 Chr17:43094437 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053994698

2 SubmittersRCV001990895RCV003156964
NM_000059.4(BRCA2):c.2845T>A (p.Tyr949Asn) SNV
Germline		 Chr13:32337200 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1328742081

2 SubmittersRCV002038170RCV003157047
NM_007294.4(BRCA1):c.1246C>G (p.Leu416Val) SNV
Germline		 Chr17:43094285 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567800325

3 SubmittersRCV001893602RCV002388793
NM_000059.4(BRCA2):c.1016A>T (p.Asp339Val) SNV
Germline		 Chr13:32332494 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1244056899

2 SubmittersRCV001926808RCV003156862
NM_000059.4(BRCA2):c.5880T>A (p.Cys1960Ter) SNV
Germline		 Chr13:32340235 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_368055906

1 SubmittersRCV002000196
NM_000059.4(BRCA2):c.4483G>T (p.Val1495Phe) SNV
Germline		 Chr13:32338838 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358680

2 SubmittersRCV002000427RCV003156970
NM_007294.4(BRCA1):c.4588A>T (p.Lys1530Ter) SNV
Germline		 Chr17:43074418 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_764016240

1 SubmittersRCV001993194
NM_000059.4(BRCA2):c.9257-2A>T SNV
Germline		 Chr13:32394687 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_886040954

1 SubmittersRCV001993195
NM_000059.4(BRCA2):c.4609G>T (p.Glu1537Ter) SNV
Germline		 Chr13:32338964 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_753244927

2 SubmittersRCV001993219RCV003170162
NM_000059.4(BRCA2):c.2883G>T (p.Gln961His) SNV
Germline		 Chr13:32337238 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_11571655

2 SubmittersRCV001998652RCV003156962
NM_000059.4(BRCA2):c.3505A>C (p.Asn1169His) SNV
Germline		 Chr13:32337860 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137497330

2 SubmittersRCV002035949RCV003157045
NM_000059.4(BRCA2):c.2382G>A (p.Met794Ile) SNV
Germline		 Chr13:32336737 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282646

3 SubmittersRCV002035960RCV003157046
NM_000059.4(BRCA2):c.5117A>G (p.Asn1706Ser) SNV
Germline		 Chr13:32339472 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_730881536

3 SubmittersRCV002006808RCV002346283
NM_000059.4(BRCA2):c.4139T>C (p.Ile1380Thr) SNV
Germline		 Chr13:32338494 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137503277

2 SubmittersRCV001877227RCV003159036
NM_000059.4(BRCA2):c.6016A>G (p.Ser2006Gly) SNV
Germline		 Chr13:32340371 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072544288

3 SubmittersRCV001899375RCV002359323
NM_000059.4(BRCA2):c.2769G>T (p.Lys923Asn) SNV
Germline		 Chr13:32337124 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137489694

2 SubmittersRCV001878711RCV003159037
NM_007294.4(BRCA1):c.3456C>A (p.Asp1152Glu) SNV
Germline		 Chr17:43092075 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154314157

2 SubmittersRCV001878714RCV003159038
NM_007294.4(BRCA1):c.3100A>G (p.Asn1034Asp) SNV
Germline		 Chr17:43092431 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154342594

2 SubmittersRCV001915064RCV003156826
NM_000059.4(BRCA2):c.3086T>C (p.Met1029Thr) SNV
Germline		 Chr13:32337441 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137493039

2 SubmittersRCV002000272RCV003156968
NM_007294.4(BRCA1):c.3872G>A (p.Cys1291Tyr) SNV
Germline		 Chr17:43091659 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_781212379

2 SubmittersRCV001968493RCV003156911
NM_000059.4(BRCA2):c.6167C>T (p.Ser2056Phe) SNV
Germline		 Chr13:32340522 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137524924

3 SubmittersRCV001985747RCV002352661
NM_000059.4(BRCA2):c.6181G>C (p.Ala2061Pro) SNV
Germline		 Chr13:32340536 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555284585

2 SubmittersRCV001983740RCV003156985
NM_007294.4(BRCA1):c.3767C>T (p.Thr1256Ile) SNV
Germline		 Chr17:43091764 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154289053

2 SubmittersRCV002024510RCV003157072
NM_000059.4(BRCA2):c.3563T>C (p.Ile1188Thr) SNV
Germline		 Chr13:32337918 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137497887

2 SubmittersRCV002024539RCV003157073
NM_007294.4(BRCA1):c.3762G>T (p.Lys1254Asn) SNV
Germline		 Chr17:43091769 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_2053529032

4 SubmittersRCV002024551RCV002346313RCV004011160
NM_007294.4(BRCA1):c.1049G>C (p.Arg350Thr) SNV
Germline		 Chr17:43094482 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2054001685

2 SubmittersRCV002024604RCV003157074
NM_000059.4(BRCA2):c.6278A>G (p.His2093Arg) SNV
Germline		 Chr13:32340633 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1218113889

3 SubmittersRCV001866589RCV002361098
NM_007294.4(BRCA1):c.2297G>C (p.Ser766Thr) SNV
Germline		 Chr17:43093234 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567796224

2 SubmittersRCV001897476RCV003159063
NM_007294.4(BRCA1):c.1307C>A (p.Pro436His) SNV
Germline		 Chr17:43094224 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154459839

5 SubmittersRCV001922154RCV002259150
NM_000059.4(BRCA2):c.3262C>A (p.Pro1088Thr) SNV
Germline		 Chr13:32337617 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358572

2 SubmittersRCV001890310RCV003159064
NM_007294.4(BRCA1):c.1433C>G (p.Thr478Ser) SNV
Germline		 Chr17:43094098 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154446383

2 SubmittersRCV001916080RCV003156842
NM_000059.4(BRCA2):c.4948A>T (p.Ser1650Cys) SNV
Germline		 Chr13:32339303 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137511971

2 SubmittersRCV001956872RCV003156917
NM_007294.4(BRCA1):c.2984A>C (p.Lys995Thr) SNV
Germline		 Chr17:43092547 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567793358

2 SubmittersRCV001956878RCV003156918
NM_000059.4(BRCA2):c.4208C>G (p.Thr1403Ser) SNV
Germline		 Chr13:32338563 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072498862

2 SubmittersRCV001971689RCV003156957
NM_007294.4(BRCA1):c.2020C>T (p.Pro674Ser) SNV
Germline		 Chr17:43093511 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567797243

2 SubmittersRCV001998413RCV003156958
NM_000059.4(BRCA2):c.3576T>A (p.Phe1192Leu) SNV
Germline		 Chr13:32337931 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137497999

2 SubmittersRCV002018807RCV003156959
NM_007294.4(BRCA1):c.3860A>G (p.Glu1287Gly) SNV
Germline		 Chr17:43091671 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053510326

2 SubmittersRCV001971720RCV003156960
NM_000059.4(BRCA2):c.5030G>C (p.Arg1677Thr) SNV
Germline		 Chr13:32339385 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_375304428

3 SubmittersRCV001999562RCV003157042RCV003151880
NM_000059.4(BRCA2):c.8176T>A (p.Tyr2726Asn) SNV
Germline		 Chr13:32363378 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137581441

1 SubmittersRCV002004210
NM_007294.4(BRCA1):c.3866C>T (p.Thr1289Ile) SNV
Germline		 Chr17:43091665 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_2154280244

3 SubmittersRCV001921630RCV003156861RCV004010900
NM_000059.4(BRCA2):c.3233T>C (p.Val1078Ala) SNV
Germline		 Chr13:32337588 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1270386176

2 SubmittersRCV001976907RCV003156965
NM_007294.4(BRCA1):c.854A>G (p.His285Arg) SNV
Germline		 Chr17:43094677 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_2154489161

4 SubmittersRCV001985773RCV002442981RCV003479382
NM_000059.4(BRCA2):c.6055A>G (p.Asn2019Asp) SNV
Germline		 Chr13:32340410 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137523721

3 SubmittersRCV001874718RCV002359327
NM_000059.4(BRCA2):c.5891A>T (p.Lys1964Met) SNV
Germline		 Chr13:32340246 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358821

3 SubmittersRCV001874732RCV002359328
NM_000059.4(BRCA2):c.4750G>A (p.Glu1584Lys) SNV
Germline		 Chr13:32339105 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_745632282

2 SubmittersRCV002002945RCV003156975
NM_000059.4(BRCA2):c.1118A>C (p.Gln373Pro) SNV
Germline		 Chr13:32332596 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2137467818

4 SubmittersRCV002011520RCV002441208RCV004011131
NM_007294.4(BRCA1):c.3794A>G (p.Asn1265Ser) SNV
Germline		 Chr17:43091737 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154286843

3 SubmittersRCV002043018RCV003157054
NM_000059.4(BRCA2):c.3996T>A (p.His1332Gln) SNV
Germline		 Chr13:32338351 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901143

2 SubmittersRCV002009641RCV003157049
NM_007294.4(BRCA1):c.4076A>G (p.Gln1359Arg) SNV
Germline		 Chr17:43091455 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567789002

2 SubmittersRCV002037142RCV003158971
NM_007294.4(BRCA1):c.750G>C (p.Glu250Asp) SNV
Germline		 Chr17:43094781 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_762867923

3 SubmittersRCV002037160RCV003158972
NM_000059.4(BRCA2):c.1139G>A (p.Ser380Asn) SNV
Germline		 Chr13:32332617 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_780798665

2 SubmittersRCV001896579RCV003156827
NM_000059.4(BRCA2):c.6112C>G (p.His2038Asp) SNV
Germline		 Chr13:32340467 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587778123

3 SubmittersRCV001918046RCV002359383
NM_000059.4(BRCA2):c.6404A>G (p.Asn2135Ser) SNV
Germline		 Chr13:32340759 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137527179

2 SubmittersRCV001949882RCV003156866
NM_000059.4(BRCA2):c.6199T>G (p.Ser2067Ala) SNV
Germline		 Chr13:32340554 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_143806921

2 SubmittersRCV001933593RCV003156867
NM_007294.4(BRCA1):c.2162T>G (p.Phe721Cys) SNV
Germline		 Chr17:43093369 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154396157

2 SubmittersRCV001994348RCV003156973
NM_007294.4(BRCA1):c.1169A>C (p.Asp390Ala) SNV
Germline		 Chr17:43094362 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154472427

2 SubmittersRCV002025112RCV003156974
NM_000059.4(BRCA2):c.2215C>T (p.His739Tyr) SNV
Germline		 Chr13:32336570 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282536

2 SubmittersRCV002011491RCV003157053
NM_007294.4(BRCA1):c.2066G>C (p.Ser689Thr) SNV
Germline		 Chr17:43093465 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_779748579

2 SubmittersRCV001989084RCV003156987
NM_000059.4(BRCA2):c.2794G>C (p.Asp932His) SNV
Germline		 Chr13:32337149 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_2137489980

4 SubmittersRCV001880451RCV002440921RCV003316852
NM_000059.4(BRCA2):c.4538A>C (p.Asp1513Ala) SNV
Germline		 Chr13:32338893 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566230577

2 SubmittersRCV001870195RCV003159000
NM_000059.4(BRCA2):c.3850A>G (p.Ser1284Gly) SNV
Germline		 Chr13:32338205 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137500602

2 SubmittersRCV001895804RCV003156789
NM_007294.4(BRCA1):c.2913T>A (p.His971Gln) SNV
Germline		 Chr17:43092618 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786203804

2 SubmittersRCV001924765RCV003156790
NM_000059.4(BRCA2):c.4715C>A (p.Ala1572Asp) SNV
Germline		 Chr13:32339070 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072511378

2 SubmittersRCV001895837RCV003156791
NM_000059.4(BRCA2):c.5489C>G (p.Ser1830Cys) SNV
Germline		 Chr13:32339844 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593905616

2 SubmittersRCV001943043RCV003156848
NM_007294.4(BRCA1):c.4024T>A (p.Ser1342Thr) SNV
Germline		 Chr17:43091507 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154268924

2 SubmittersRCV001979572RCV003156921
NM_000059.4(BRCA2):c.826G>T (p.Val276Leu) SNV
Germline		 Chr13:32332304 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1485423178

2 SubmittersRCV001879139RCV003159039
NM_000059.4(BRCA2):c.4219G>T (p.Glu1407Ter) SNV
Germline		 Chr13:32338574 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137504114

1 SubmittersRCV001915479
NM_000059.4(BRCA2):c.3097G>T (p.Asp1033Tyr) SNV
Germline		 Chr13:32337452 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_780279081

2 SubmittersRCV001994184RCV003156971
NM_000059.4(BRCA2):c.6077C>T (p.Thr2026Ile) SNV
Germline		 Chr13:32340432 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1228610692

2 SubmittersRCV002016406RCV003157050
NM_007294.4(BRCA1):c.3729G>T (p.Arg1243Ser) SNV
Germline		 Chr17:43091802 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154292175

2 SubmittersRCV002016419RCV003157051
NM_007294.4(BRCA1):c.3482A>C (p.Glu1161Ala) SNV
Germline		 Chr17:43092049 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053579677

2 SubmittersRCV002016550RCV003157052
NM_007294.4(BRCA1):c.929A>G (p.Gln310Arg) SNV
Germline		 Chr17:43094602 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597879098

2 SubmittersRCV002037462RCV003158973
NM_000059.4(BRCA2):c.2408A>G (p.Tyr803Cys) SNV
Germline		 Chr13:32336763 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566226664

3 SubmittersRCV002041535RCV002458643
NM_000059.4(BRCA2):c.7054C>A (p.Pro2352Thr) SNV
Germline		 Chr13:32354907 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 rs_776714935

3 SubmittersRCV001877784RCV002370418RCV003464194
NM_000059.4(BRCA2):c.5384A>C (p.Lys1795Thr) SNV
Germline		 Chr13:32339739 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566232357

2 SubmittersRCV001900637RCV003159045
NM_000059.4(BRCA2):c.4884A>T (p.Lys1628Asn) SNV
Germline		 Chr13:32339239 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072514968

2 SubmittersRCV001925089RCV003156829
NM_000059.4(BRCA2):c.3365G>A (p.Gly1122Glu) SNV
Germline		 Chr13:32337720 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_532871047

3 SubmittersRCV001938863RCV003156869RCV004010923
NM_000059.4(BRCA2):c.7150C>T (p.Gln2384Ter) SNV
Germline		 Chr13:32355003 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_55977008

1 SubmittersRCV001946957
NM_007294.4(BRCA1):c.1612C>G (p.Gln538Glu) SNV
Germline		 Chr17:43093919 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80356893

2 SubmittersRCV002005609RCV003156978
NM_000059.4(BRCA2):c.3381T>G (p.Phe1127Leu) SNV
Germline		 Chr13:32337736 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1057522933

3 SubmittersRCV002046610RCV002307767RCV003158983
NM_000059.4(BRCA2):c.6377G>C (p.Cys2126Ser) SNV
Germline		 Chr13:32340732 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137526863

2 SubmittersRCV002029969RCV003158977
NM_007294.4(BRCA1):c.2801A>G (p.Gln934Arg) SNV
Germline		 Chr17:43092730 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154358844

2 SubmittersRCV002030089RCV003158978
NM_000059.4(BRCA2):c.3171G>C (p.Lys1057Asn) SNV
Germline		 Chr13:32337526 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137493933

2 SubmittersRCV002041448RCV003158979
NM_000059.4(BRCA2):c.5348A>T (p.Lys1783Ile) SNV
Germline		 Chr13:32339703 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137516609

2 SubmittersRCV001900501RCV003159044
NM_007294.4(BRCA1):c.1887A>C (p.Arg629Ser) SNV
Germline		 Chr17:43093644 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154413792

2 SubmittersRCV001964964RCV003156868
NM_000059.4(BRCA2):c.7806-2A>C SNV
Germline		 Chr13:32362521 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_81002836

3 SubmittersRCV001951102RCV002407186RCV003136374
NM_000059.4(BRCA2):c.6773A>G (p.Glu2258Gly) SNV
Germline		 Chr13:32341128 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137530584

2 SubmittersRCV002028130RCV003156977
NM_000059.4(BRCA2):c.3025T>C (p.Phe1009Leu) SNV
Germline		 Chr13:32337380 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137492339

4 SubmittersRCV002028173RCV002441157
NM_000059.4(BRCA2):c.4780A>G (p.Met1594Val) SNV
Germline		 Chr13:32339135 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137510137

2 SubmittersRCV002016825RCV003157058
NM_007294.4(BRCA1):c.3908T>G (p.Leu1303Trp) SNV
Germline		 Chr17:43091623 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154277653

2 SubmittersRCV002033348RCV003158982
NM_000059.4(BRCA2):c.3945A>T (p.Arg1315Ser) SNV
Germline		 Chr13:32338300 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137501449

2 SubmittersRCV001986910RCV003156996
NM_000059.4(BRCA2):c.1690C>T (p.Pro564Ser) SNV
Germline		 Chr13:32333168 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137473929

2 SubmittersRCV002036181RCV003157081
NM_007294.4(BRCA1):c.1411C>T (p.Leu471Phe) SNV
Germline		 Chr17:43094120 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1282963652

3 SubmittersRCV002048759RCV003157082RCV004011174
NM_007294.4(BRCA1):c.3160G>T (p.Val1054Leu) SNV
Germline		 Chr17:43092371 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876658479

2 SubmittersRCV002036341RCV003157083
NM_000059.4(BRCA2):c.3145A>G (p.Asn1049Asp) SNV
Germline		 Chr13:32337500 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137493626

2 SubmittersRCV002048809RCV003157084
NM_000059.4(BRCA2):c.1637G>A (p.Cys546Tyr) SNV
Germline		 Chr13:32333115 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137473440

2 SubmittersRCV001871486RCV003156794
NM_000059.4(BRCA2):c.1287A>C (p.Leu429Phe) SNV
Germline		 Chr13:32332765 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80359782

2 SubmittersRCV001968682RCV003156925
NM_000059.4(BRCA2):c.3179G>T (p.Ser1060Ile) SNV
Germline		 Chr13:32337534 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072474262

3 SubmittersRCV001991392RCV003157000
NM_000059.4(BRCA2):c.4885A>T (p.Thr1629Ser) SNV
Germline		 Chr13:32339240 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_879255455

2 SubmittersRCV002028287RCV003157001
NM_000059.4(BRCA2):c.5060T>A (p.Leu1687His) SNV
Germline		 Chr13:32339415 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072519361

2 SubmittersRCV002031876RCV003157085
NM_007294.4(BRCA1):c.2237A>C (p.Asp746Ala) SNV
Germline		 Chr17:43093294 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154388675

3 SubmittersRCV001900303RCV002425152
NM_000059.4(BRCA2):c.3269T>G (p.Met1090Arg) SNV
Germline		 Chr13:32337624 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137494922

2 SubmittersRCV001875169RCV003159042
NM_000059.4(BRCA2):c.7436-2A>C SNV
Germline		 Chr13:32356426 Pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_397507917

2 SubmittersRCV001896816RCV003478893
NM_007294.4(BRCA1):c.2905A>T (p.Asn969Tyr) SNV
Germline		 Chr17:43092626 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587781641

3 SubmittersRCV002014077RCV002441210
NM_000059.4(BRCA2):c.4972C>G (p.Gln1658Glu) SNV
Germline		 Chr13:32339327 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_886038114

2 SubmittersRCV002050567RCV003158980
NM_000059.4(BRCA2):c.4277C>G (p.Thr1426Arg) SNV
Germline		 Chr13:32338632 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_748591104

2 SubmittersRCV002041711RCV003158981
NM_000059.4(BRCA2):c.1498G>A (p.Gly500Ser) SNV
Germline		 Chr13:32332976 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1233016217

2 SubmittersRCV001871202RCV003159049
NM_007294.4(BRCA1):c.4515T>A (p.Asp1505Glu) SNV
Germline		 Chr17:43074491 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1057522167

2 SubmittersRCV001885901RCV002334787
NM_007294.4(BRCA1):c.4048G>A (p.Gly1350Ser) SNV
Germline		 Chr17:43091483 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_748674194

4 SubmittersRCV001885902RCV002250779RCV003159050
NM_007294.4(BRCA1):c.3444G>C (p.Glu1148Asp) SNV
Germline		 Chr17:43092087 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154315177

3 SubmittersRCV001898871RCV002508972RCV003156832
NM_000059.4(BRCA2):c.3193A>G (p.Ile1065Val) SNV
Germline		 Chr13:32337548 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137494162

2 SubmittersRCV001931601RCV003156871
NM_000059.4(BRCA2):c.4352A>T (p.Asp1451Val) SNV
Germline		 Chr13:32338707 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358671

2 SubmittersRCV002001177RCV003156982
NM_000059.4(BRCA2):c.2818C>G (p.Gln940Glu) SNV
Germline		 Chr13:32337173 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358532

2 SubmittersRCV002026443RCV003157063
NM_007294.4(BRCA1):c.2639A>G (p.Glu880Gly) SNV
Germline		 Chr17:43092892 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154367305

2 SubmittersRCV001871131RCV003159048
NM_000059.4(BRCA2):c.7623T>G (p.Tyr2541Ter) SNV
Germline		 Chr13:32357747 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137566100

1 SubmittersRCV001949359
NM_000059.4(BRCA2):c.8210T>G (p.Leu2737Ter) SNV
Germline		 Chr13:32363412 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1566245715

1 SubmittersRCV001956134
NM_000059.4(BRCA2):c.3851G>A (p.Ser1284Asn) SNV
Germline		 Chr13:32338206 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137500607

2 SubmittersRCV002030466RCV003156981
NM_000059.4(BRCA2):c.5205A>T (p.Lys1735Asn) SNV
Germline		 Chr13:32339560 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1131692115

2 SubmittersRCV002045853RCV003157061
NM_000059.4(BRCA2):c.1162G>A (p.Val388Ile) SNV
Germline		 Chr13:32332640 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660239

2 SubmittersRCV002045858RCV003157062
NM_000059.4(BRCA2):c.510T>G (p.Phe170Leu) SNV
Germline		 Chr13:32326276 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137450631

2 SubmittersRCV002026104RCV004046771
NM_000059.4(BRCA2):c.2902G>A (p.Gly968Ser) SNV
Germline		 Chr13:32337257 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072467550

3 SubmittersRCV001904519RCV002440928
NM_000059.4(BRCA2):c.5103A>T (p.Gln1701His) SNV
Germline		 Chr13:32339458 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_878853587

2 SubmittersRCV001904549RCV003159008
NM_000059.4(BRCA2):c.4033G>C (p.Asp1345His) SNV
Germline		 Chr13:32338388 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283516

2 SubmittersRCV001904702RCV003159009
NM_000059.4(BRCA2):c.808T>A (p.Ser270Thr) SNV
Germline		 Chr13:32332286 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566222098

2 SubmittersRCV001883979RCV003156797
NM_000059.4(BRCA2):c.1935A>C (p.Arg645Ser) SNV
Germline		 Chr13:32336290 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555282366

2 SubmittersRCV001884126RCV003156798
NM_007294.4(BRCA1):c.2126T>C (p.Phe709Ser) SNV
Germline		 Chr17:43093405 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567796937

3 SubmittersRCV001908186RCV003156799
NM_000059.4(BRCA2):c.6032T>C (p.Phe2011Ser) SNV
Germline		 Chr13:32340387 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137523459

2 SubmittersRCV001969791RCV003156882
NM_000059.4(BRCA2):c.2516A>G (p.Tyr839Cys) SNV
Germline		 Chr13:32336871 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137487301

3 SubmittersRCV001961735RCV002425346
NM_000059.4(BRCA2):c.2933A>C (p.Asn978Thr) SNV
Germline		 Chr13:32337288 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_775890004

2 SubmittersRCV001961736RCV003156932
NM_007294.4(BRCA1):c.1622A>G (p.Gln541Arg) SNV
Germline		 Chr17:43093909 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154433518

2 SubmittersRCV002019354RCV003157009
NM_000059.4(BRCA2):c.3974C>G (p.Thr1325Ser) SNV
Germline		 Chr13:32338329 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901084

2 SubmittersRCV002019816RCV003157010
NM_007294.4(BRCA1):c.1046A>G (p.Glu349Gly) SNV
Germline		 Chr17:43094485 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154478875

2 SubmittersRCV002019825RCV003157011
NM_000059.4(BRCA2):c.4165T>A (p.Phe1389Ile) SNV
Germline		 Chr13:32338520 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1409088355

2 SubmittersRCV001996121RCV003157012
NM_000059.4(BRCA2):c.1439G>T (p.Cys480Phe) SNV
Germline		 Chr13:32332917 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587782648

2 SubmittersRCV001899790RCV003159012
NM_007294.4(BRCA1):c.1764C>A (p.Ser588Arg) SNV
Germline		 Chr17:43093767 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597874296

2 SubmittersRCV001899820RCV003159013
NM_000059.4(BRCA2):c.1527A>C (p.Arg509Ser) SNV
Germline		 Chr13:32333005 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_28657708

2 SubmittersRCV001931968RCV003159014
NM_000059.4(BRCA2):c.1924T>A (p.Ser642Thr) SNV
Germline		 Chr13:32336279 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137481857

3 SubmittersRCV001939031RCV002407105
NM_000059.4(BRCA2):c.8486A>C (p.Gln2829Pro) SNV
Germline		 Chr13:32370556 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_80359100

1 SubmittersRCV002005945
NM_000059.4(BRCA2):c.5921C>G (p.Thr1974Ser) SNV
Germline		 Chr13:32340276 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_55730620

2 SubmittersRCV002008291RCV003156979
NM_000059.4(BRCA2):c.4148A>T (p.Asp1383Val) SNV
Germline		 Chr13:32338503 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137503361

2 SubmittersRCV002022968RCV003157059
NM_007294.4(BRCA1):c.3172A>T (p.Ile1058Phe) SNV
Germline		 Chr17:43092359 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1064795478

2 SubmittersRCV002045650RCV003157060
NM_000059.4(BRCA2):c.2672T>C (p.Val891Ala) SNV
Germline		 Chr13:32337027 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593897497

2 SubmittersRCV001885983RCV003159051
NM_000059.4(BRCA2):c.4501A>G (p.Asn1501Asp) SNV
Germline		 Chr13:32338856 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_1555283811

3 SubmittersRCV001889741RCV003159052RCV004009251
NM_000059.4(BRCA2):c.6589A>G (p.Thr2197Ala) SNV
Germline		 Chr13:32340944 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137528860

2 SubmittersRCV001899023RCV003156833
NM_000059.4(BRCA2):c.3922G>C (p.Glu1308Gln) SNV
Germline		 Chr13:32338277 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358638

3 SubmittersRCV001948557RCV002370551
NM_000059.4(BRCA2):c.6041T>C (p.Val2014Ala) SNV
Germline		 Chr13:32340396 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137523581

2 SubmittersRCV001959951RCV003156875
NM_000059.4(BRCA2):c.6706G>T (p.Glu2236Ter) SNV
Germline		 Chr13:32341061 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_41293503

1 SubmittersRCV001951296
NM_000059.4(BRCA2):c.3038C>G (p.Ser1013Ter) SNV
Germline		 Chr13:32337393 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2137492443

2 SubmittersRCV001982960RCV002441106
NM_000059.4(BRCA2):c.9226G>A (p.Gly3076Arg) SNV
Germline		 Chr13:32380115 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1566253644

1 SubmittersRCV002033601
NM_000059.4(BRCA2):c.2347G>A (p.Val783Ile) SNV
Germline		 Chr13:32336702 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1566226546

4 SubmittersRCV002047264RCV002256849
NM_007294.4(BRCA1):c.1096G>A (p.Asp366Asn) SNV
Germline		 Chr17:43094435 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1289961661

2 SubmittersRCV002047320RCV003158992
NM_000059.4(BRCA2):c.6408A>T (p.Leu2136Phe) SNV
Germline		 Chr13:32340763 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137527249

2 SubmittersRCV002047338RCV003158993
NM_007294.4(BRCA1):c.1687C>A (p.Gln563Lys) SNV
Germline		 Chr17:43093844 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80356898

2 SubmittersRCV001909255RCV003156838
NM_000059.4(BRCA2):c.1567C>G (p.His523Asp) SNV
Germline		 Chr13:32333045 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072416501

3 SubmittersRCV001918476RCV002397891
NM_000059.4(BRCA2):c.1469G>A (p.Gly490Glu) SNV
Germline		 Chr13:32332947 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137471813

3 SubmittersRCV001903512RCV002255700
NM_007294.4(BRCA1):c.2359G>C (p.Glu787Gln) SNV
Germline		 Chr17:43093172 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1288796003

3 SubmittersRCV001981930RCV002442896
NM_000059.4(BRCA2):c.5282G>T (p.Gly1761Val) SNV
Germline		 Chr13:32339637 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358752

2 SubmittersRCV001959797RCV003156873
NM_000059.4(BRCA2):c.6211A>G (p.Ser2071Gly) SNV
Germline		 Chr13:32340566 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358860

2 SubmittersRCV001981939RCV003156874
NM_000059.4(BRCA2):c.8748C>A (p.Tyr2916Ter) SNV
Germline		 Chr13:32376785 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137613497

1 SubmittersRCV001959079
NM_007294.4(BRCA1):c.3129T>A (p.Asn1043Lys) SNV
Germline		 Chr17:43092402 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555588339

2 SubmittersRCV002018643RCV003157065
NM_000059.4(BRCA2):c.6027A>C (p.Gln2009His) SNV
Germline		 Chr13:32340382 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1131692109

2 SubmittersRCV002029314RCV003157066
NM_000059.4(BRCA2):c.4943C>A (p.Ala1648Glu) SNV
Germline		 Chr13:32339298 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1449458592

2 SubmittersRCV002044792RCV003158991
NM_000059.4(BRCA2):c.7406C>T (p.Thr2469Ile) SNV
Germline		 Chr13:32355259 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137558833

2 SubmittersRCV002044892RCV002386598
NM_007294.4(BRCA1):c.4086T>A (p.Asp1362Glu) SNV
Germline		 Chr17:43091445 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_2154264837

4 SubmittersRCV001914804RCV002324271RCV004009258
NM_007294.4(BRCA1):c.3322A>G (p.Ile1108Val) SNV
Germline		 Chr17:43092209 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154329049

3 SubmittersRCV001891976RCV002458711
NM_007294.4(BRCA1):c.1288G>C (p.Asp430His) SNV
Germline		 Chr17:43094243 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154461295

2 SubmittersRCV001981353RCV003156887
NM_000059.4(BRCA2):c.4036A>G (p.Thr1346Ala) SNV
Germline		 Chr13:32338391 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2137502300

4 SubmittersRCV001981453RCV002352627RCV003149011
NM_000059.4(BRCA2):c.475+1G>C SNV
Germline		 Chr13:32326151 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_81002797

1 SubmittersRCV001981458
NM_000059.4(BRCA2):c.1528G>A (p.Glu510Lys) SNV
Germline		 Chr13:32333006 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358438

2 SubmittersRCV001975639RCV003156937
NM_000059.4(BRCA2):c.4649A>T (p.Glu1550Val) SNV
Germline		 Chr13:32339004 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660887

2 SubmittersRCV002003985RCV003157018
NM_000059.4(BRCA2):c.5059C>G (p.Leu1687Val) SNV
Germline		 Chr13:32339414 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1408726129

3 SubmittersRCV001902117RCV002334758
NM_007294.4(BRCA1):c.1554C>G (p.Ile518Met) SNV
Germline		 Chr17:43093977 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1064794487

2 SubmittersRCV001934861RCV003159018
NM_000059.4(BRCA2):c.2963A>T (p.Asp988Val) SNV
Germline		 Chr13:32337318 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_876659509

5 SubmittersRCV001902230RCV002256853RCV004009215
NM_000059.4(BRCA2):c.2721G>C (p.Lys907Asn) SNV
Germline		 Chr13:32337076 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137489215

2 SubmittersRCV001891246RCV003156805
NM_007294.4(BRCA1):c.2348T>A (p.Ile783Asn) SNV
Germline		 Chr17:43093183 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_562370358

2 SubmittersRCV001952042RCV003156854
NM_000059.4(BRCA2):c.9487A>T (p.Lys3163Ter) SNV
Germline		 Chr13:32394919 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2137654496

1 SubmittersRCV001930942
NM_000059.4(BRCA2):c.2855C>T (p.Ala952Val) SNV
Germline		 Chr13:32337210 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_761934778

2 SubmittersRCV001958323RCV003156891
NM_007294.4(BRCA1):c.1373A>T (p.Asp458Val) SNV
Germline		 Chr17:43094158 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154450396

2 SubmittersRCV002018615RCV003157064
NM_000059.4(BRCA2):c.5618T>C (p.Val1873Ala) SNV
Germline		 Chr13:32339973 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137519186

2 SubmittersRCV002051387RCV003158986
NM_000059.4(BRCA2):c.6710A>G (p.Asp2237Gly) SNV
Germline		 Chr13:32341065 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137530022

2 SubmittersRCV002042252RCV003158987
NM_007294.4(BRCA1):c.2841A>C (p.Lys947Asn) SNV
Germline		 Chr17:43092690 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_864622618

2 SubmittersRCV001881168RCV003159053
NM_000059.4(BRCA2):c.4978C>T (p.Pro1660Ser) SNV
Germline		 Chr13:32339333 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137512328

3 SubmittersRCV001906742RCV002265045RCV003156836
NM_007294.4(BRCA1):c.904G>A (p.Ala302Thr) SNV
Germline		 Chr17:43094627 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154486087

2 SubmittersRCV001935300RCV003156837
NM_000059.4(BRCA2):c.4220A>T (p.Glu1407Val) SNV
Germline		 Chr13:32338575 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901726

2 SubmittersRCV001944315RCV003156876
NM_000059.4(BRCA2):c.1537A>T (p.Lys513Ter) SNV
Germline		 Chr13:32333015 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555281938

2 SubmittersRCV001962416RCV002397955
NM_007294.4(BRCA1):c.3427T>C (p.Ser1143Pro) SNV
Germline		 Chr17:43092104 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154316944

4 SubmittersRCV001955005RCV002258332
NM_000059.4(BRCA2):c.4231G>T (p.Ala1411Ser) SNV
Germline		 Chr13:32338586 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1202062406

2 SubmittersRCV001965990RCV003156906
NM_007294.4(BRCA1):c.1381T>G (p.Phe461Val) SNV
Germline		 Chr17:43094150 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_62625300

2 SubmittersRCV001985546RCV003156907
NM_000059.4(BRCA2):c.6485A>C (p.Lys2162Thr) SNV
Germline		 Chr13:32340840 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_11571660

2 SubmittersRCV001985565RCV003156908
NM_000059.4(BRCA2):c.4454T>A (p.Ile1485Lys) SNV
Germline		 Chr13:32338809 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555283790

2 SubmittersRCV002026957RCV003157069
NM_007294.4(BRCA1):c.2740G>C (p.Glu914Gln) SNV
Germline		 Chr17:43092791 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80357419

2 SubmittersRCV001913443RCV003156841
NM_000059.4(BRCA2):c.6305T>G (p.Val2102Gly) SNV
Germline		 Chr13:32340660 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137526201

2 SubmittersRCV001952806RCV003156877
NM_000059.4(BRCA2):c.1458G>C (p.Gln486His) SNV
Germline		 Chr13:32332936 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_61753156

2 SubmittersRCV001983255RCV003156905
NM_000059.4(BRCA2):c.5402C>G (p.Pro1801Arg) SNV
Germline		 Chr13:32339757 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1060502429

3 SubmittersRCV001978202RCV002344177
NM_007294.4(BRCA1):c.3334G>C (p.Glu1112Gln) SNV
Germline		 Chr17:43092197 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154327700

3 SubmittersRCV001863313RCV002324237
NM_000059.4(BRCA2):c.3683A>T (p.Asn1228Ile) SNV
Germline		 Chr13:32338038 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786202838

3 SubmittersRCV001863470RCV002458657
NM_000059.4(BRCA2):c.5746C>G (p.His1916Asp) SNV
Germline		 Chr13:32340101 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137520497

2 SubmittersRCV001863473RCV003158997
NM_007294.4(BRCA1):c.2114C>T (p.Ala705Val) SNV
Germline		 Chr17:43093417 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154398643

2 SubmittersRCV001895063RCV003159061
NM_000059.4(BRCA2):c.2283T>A (p.Tyr761Ter) SNV
Germline		 Chr13:32336638 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_925988904

1 SubmittersRCV001917330
NM_000059.4(BRCA2):c.3684T>A (p.Asn1228Lys) SNV
Germline		 Chr13:32338039 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137498989

2 SubmittersRCV001909599RCV003156840
NM_000059.4(BRCA2):c.2174A>C (p.Lys725Thr) SNV
Germline		 Chr13:32336529 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137483940

2 SubmittersRCV002005094RCV003156943
NM_007294.4(BRCA1):c.3500A>G (p.Glu1167Gly) SNV
Germline		 Chr17:43092031 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154308012

3 SubmittersRCV001977332RCV002458914
NM_007294.4(BRCA1):c.796G>A (p.Val266Ile) SNV
Germline		 Chr17:43094735 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154492345

2 SubmittersRCV002005151RCV003156944
NM_007294.4(BRCA1):c.2699C>G (p.Thr900Ser) SNV
Germline		 Chr17:43092832 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154363860

2 SubmittersRCV001977424RCV003156945
NM_007294.4(BRCA1):c.3668T>C (p.Leu1223Pro) SNV
Germline		 Chr17:43091863 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154295855

2 SubmittersRCV001907829RCV003159023
NM_000059.4(BRCA2):c.1204G>A (p.Gly402Ser) SNV
Germline		 Chr13:32332682 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_878853556

2 SubmittersRCV001911271RCV003156807
NM_007294.4(BRCA1):c.1205A>G (p.Glu402Gly) SNV
Germline		 Chr17:43094326 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555592216

2 SubmittersRCV001896398RCV003156808
NM_000059.4(BRCA2):c.5254C>A (p.His1752Asn) SNV
Germline		 Chr13:32339609 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358749

2 SubmittersRCV001896407RCV003156809
NM_000059.4(BRCA2):c.5774A>G (p.Gln1925Arg) SNV
Germline		 Chr13:32340129 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137520813

2 SubmittersRCV001896410RCV003156810
NM_000059.4(BRCA2):c.2995C>G (p.Pro999Ala) SNV
Germline		 Chr13:32337350 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137492059

2 SubmittersRCV001912409RCV003156811
NM_000059.4(BRCA2):c.5028T>A (p.Ser1676Arg) SNV
Germline		 Chr13:32339383 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 rs_762458631

3 SubmittersRCV001896432RCV003156812RCV003492695
NM_000059.4(BRCA2):c.3320A>G (p.Gln1107Arg) SNV
Germline		 Chr13:32337675 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593899174

2 SubmittersRCV002011841RCV003156895
NM_000059.4(BRCA2):c.4686A>T (p.Gln1562His) SNV
Germline		 Chr13:32339041 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_28897730

2 SubmittersRCV002011916RCV003156896
NM_000059.4(BRCA2):c.2968A>C (p.Met990Leu) SNV
Germline		 Chr13:32337323 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876660083

2 SubmittersRCV001973731RCV003156948
NM_000059.4(BRCA2):c.1631C>G (p.Thr544Ser) SNV
Germline		 Chr13:32333109 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358448

2 SubmittersRCV001951617RCV003156903
NM_000059.4(BRCA2):c.5261A>T (p.Asp1754Val) SNV
Germline		 Chr13:32339616 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_772772727

3 SubmittersRCV001963335RCV003156904
NM_000059.4(BRCA2):c.1018G>A (p.Glu340Lys) SNV
Germline		 Chr13:32332496 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137466889

2 SubmittersRCV002021207RCV003157067
NM_007294.4(BRCA1):c.1907G>T (p.Cys636Phe) SNV
Germline		 Chr17:43093624 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_398122649

5 SubmittersRCV002047596RCV002406925RCV002224095RCV004552057
NM_007294.4(BRCA1):c.3341A>G (p.Glu1114Gly) SNV
Germline		 Chr17:43092190 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154327006

2 SubmittersRCV002039846RCV003158994
NM_000059.4(BRCA2):c.5697T>A (p.Asp1899Glu) SNV
Germline		 Chr13:32340052 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786203565

2 SubmittersRCV001917177RCV003159056
NM_007294.4(BRCA1):c.3249G>A (p.Met1083Ile) SNV
Germline		 Chr17:43092282 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1367761716

3 SubmittersRCV001918561RCV002324314
NM_007294.4(BRCA1):c.2233G>T (p.Glu745Ter) SNV
Germline		 Chr17:43093298 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2154389241

1 SubmittersRCV001955170
NM_000059.4(BRCA2):c.6454T>C (p.Ser2152Pro) SNV
Germline		 Chr13:32340809 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555284705

2 SubmittersRCV001954174RCV003156909
NM_000059.4(BRCA2):c.3670G>A (p.Gly1224Ser) SNV
Germline		 Chr13:32338025 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137498845

3 SubmittersRCV001968383RCV003156910
NM_007294.4(BRCA1):c.4084G>C (p.Asp1362His) SNV
Germline		 Chr17:43091447 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_775463394

3 SubmittersRCV001961026RCV003156913RCV003478909
NM_000059.4(BRCA2):c.3001T>G (p.Ser1001Ala) SNV
Germline		 Chr13:32337356 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137492111

3 SubmittersRCV002009966RCV003156986
NM_000059.4(BRCA2):c.516+4A>G SNV
Germline		 Chr13:32326286 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2137450725

2 SubmittersRCV002009968RCV002335026
NM_007294.4(BRCA1):c.3502A>T (p.Asn1168Tyr) SNV
Germline		 Chr17:43092029 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154307903

3 SubmittersRCV001890677RCV002458719
NM_000059.4(BRCA2):c.5330A>C (p.Lys1777Thr) SNV
Germline		 Chr13:32339685 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137516417

2 SubmittersRCV001892452RCV003159067
NM_000059.4(BRCA2):c.4009G>T (p.Asp1337Tyr) SNV
Germline		 Chr13:32338364 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137502029

2 SubmittersRCV001892475RCV003159068
NM_007294.4(BRCA1):c.1354G>A (p.Val452Ile) SNV
Germline		 Chr17:43094177 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154455068

2 SubmittersRCV001928147RCV003156845
NM_000059.4(BRCA2):c.1012G>C (p.Ala338Pro) SNV
Germline		 Chr13:32332490 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358396

2 SubmittersRCV001920316RCV003156846
NM_007294.4(BRCA1):c.2135G>A (p.Cys712Tyr) SNV
Germline		 Chr17:43093396 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555590395

2 SubmittersRCV001954421RCV003156912
NM_000059.4(BRCA2):c.5477C>T (p.Ala1826Val) SNV
Germline		 Chr13:32339832 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137517885

2 SubmittersRCV001866728RCV003158998
NM_000059.4(BRCA2):c.1343G>T (p.Arg448Leu) SNV
Germline		 Chr13:32332821 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358423

2 SubmittersRCV001890382RCV003159065
NM_000059.4(BRCA2):c.1178G>A (p.Cys393Tyr) SNV
Germline		 Chr13:32332656 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_766690741

2 SubmittersRCV001922280RCV003159066
NM_000059.4(BRCA2):c.1852G>T (p.Ala618Ser) SNV
Germline		 Chr13:32333330 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358475

2 SubmittersRCV001916406RCV003156843
NM_000059.4(BRCA2):c.5026A>G (p.Ser1676Gly) SNV
Germline		 Chr13:32339381 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_786203719

4 SubmittersRCV001928040RCV002334869RCV004010859
NM_007294.4(BRCA1):c.1340T>C (p.Val447Ala) SNV
Germline		 Chr17:43094191 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154457435

2 SubmittersRCV001940079RCV003156844
NM_000059.4(BRCA2):c.4196G>T (p.Cys1399Phe) SNV
Germline		 Chr13:32338551 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_764939265

3 SubmittersRCV001962823RCV003156878
NM_000059.4(BRCA2):c.1421T>G (p.Leu474Arg) SNV
Germline		 Chr13:32332899 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_431825281

2 SubmittersRCV001934006RCV003156879
NM_000059.4(BRCA2):c.6319C>G (p.Pro2107Ala) SNV
Germline		 Chr13:32340674 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593908231

2 SubmittersRCV001997991RCV003156919
NM_007294.4(BRCA1):c.1180G>A (p.Gly394Ser) SNV
Germline		 Chr17:43094351 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_771837028

2 SubmittersRCV001963498RCV003156920
NM_007294.4(BRCA1):c.1664A>G (p.Asn555Ser) SNV
Germline		 Chr17:43093867 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154431398

3 SubmittersRCV001983479RCV002398066
NM_000059.4(BRCA2):c.4184C>T (p.Ala1395Val) SNV
Germline		 Chr13:32338539 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1782230124

4 SubmittersRCV002024933RCV003157075RCV003323973
NM_000059.4(BRCA2):c.1917G>T (p.Leu639Phe) SNV
Germline		 Chr13:32336272 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_779226644

2 SubmittersRCV001980968RCV003156988
NM_007294.4(BRCA1):c.1892T>G (p.Leu631Arg) SNV
Germline		 Chr17:43093639 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1386991114

2 SubmittersRCV001980978RCV003156989
NM_007294.4(BRCA1):c.1307C>T (p.Pro436Leu) SNV
Germline		 Chr17:43094224 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_2154459839

3 SubmittersRCV001981108RCV003156990RCV003490998
NM_000059.4(BRCA2):c.2624T>C (p.Val875Ala) SNV
Germline		 Chr13:32336979 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137488298

3 SubmittersRCV001981158RCV002425387
NM_007294.4(BRCA1):c.3240G>T (p.Leu1080Phe) SNV
Germline		 Chr17:43092291 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2154335204

2 SubmittersRCV001981159RCV003156991
NM_000059.4(BRCA2):c.3347C>A (p.Thr1116Asn) SNV
Germline		 Chr13:32337702 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2072478227

3 SubmittersRCV001981190RCV003156992RCV003478919
NM_000059.4(BRCA2):c.5506A>C (p.Asn1836His) SNV
Germline		 Chr13:32339861 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137518120

3 SubmittersRCV002024812RCV002346315
NM_000059.4(BRCA2):c.3580G>A (p.Gly1194Ser) SNV
Germline		 Chr13:32337935 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137498023

3 SubmittersRCV002024823RCV002454311
NM_000059.4(BRCA2):c.67+14T>C SNV
Germline		 Chr13:32316541 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2138698697

2 SubmittersRCV002052294RCV003530213
NM_000059.4(BRCA2):c.68-14T>A SNV
Germline		 Chr13:32319063 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2138703427

2 SubmittersRCV002052296RCV003530214
NM_000059.4(BRCA2):c.5634C>A (p.Asn1878Lys) SNV
Germline		 Chr13:32339989 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_80358784

3 SubmittersRCV002187581RCV002346367
NM_000059.4(BRCA2):c.8839G>A (p.Glu2947Lys) SNV
Germline		 Chr13:32379401 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_398122715

2 SubmittersRCV002151463RCV003289463
NM_000059.4(BRCA2):c.4214A>G (p.Asn1405Ser) SNV
Germline		 Chr13:32338569 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137504065

3 SubmittersRCV002071573RCV002331771
NM_000059.4(BRCA2):c.6841+10C>A SNV
Germline		 Chr13:32341206 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1057522119

2 SubmittersRCV002116829RCV003478936
NM_000059.4(BRCA2):c.6937+11C>G SNV
Germline		 Chr13:32344664 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1330187616

2 SubmittersRCV002074795RCV003155466
NM_000059.4(BRCA2):c.4602T>A (p.Ile1534=) SNV
Germline		 Chr13:32338957 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2137508164

2 SubmittersRCV002126325RCV003478947
NM_007294.4(BRCA1):c.1720C>T (p.Leu574Phe) SNV
Germline		 Chr17:43093811 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1323998441

2 SubmittersRCV002154485RCV003289465
NM_000051.4(ATM):c.5212A>T (p.Lys1738Ter) SNV
Germline		 Chr11:108301682 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_1064793957

1 SubmittersRCV002226202
NM_003579.4(RAD54L):c.95C>G (p.Pro32Arg) SNV
Germline		 Chr1:46250004 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_112896925

2 SubmittersRCV002226224RCV004047234
NM_000059.4(BRCA2):c.824A>C (p.Lys275Thr) SNV
Germline		 Chr13:32332302 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2137465057

2 SubmittersRCV002226238RCV003157099
NM_000059.4(BRCA2):c.1705C>T (p.Gln569Ter) SNV
Germline		 Chr13:32333183 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_397507274

3 SubmittersRCV002226240RCV003493925
NM_000059.4(BRCA2):c.3950C>G (p.Thr1317Ser) SNV
Germline		 Chr13:32338305 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1593901002

2 SubmittersRCV002226242RCV003157100
NM_003579.4(RAD54L):c.2026C>T (p.His676Tyr) SNV
Germline		 Chr1:46277973 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_751010909

2 SubmittersRCV002226250RCV004047239
NM_007294.4(BRCA1):c.1982G>A (p.Arg661Lys) SNV
Germline		 Chr17:43093549 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2053848136

2 SubmittersRCV002226313RCV003157101
NM_001018115.3(FANCD2):c.3963+8C>T SNV
Germline		 Chr3:10094371 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Fanconi anemia		 Criteria Provided
Conflicting Classifications
 rs_201623111

2 SubmittersRCV002226369RCV003089211
NM_002485.5(NBN):c.2093A>G (p.Lys698Arg) SNV
Germline		 Chr8:89943344 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2130756107

2 SubmittersRCV002226390RCV002416534
NM_000051.4(ATM):c.2638+2T>G SNV
Germline		 Chr11:108267344 Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_587779826

2 SubmittersRCV002226402RCV004047245
NM_007294.4(BRCA1):c.3637G>A (p.Glu1213Lys) SNV
Germline		 Chr17:43091894 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002307847RCV003157102
NM_000059.4(BRCA2):c.5483A>T (p.Lys1828Ile) SNV
Germline		 Chr13:32339838 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_879255459

3 SubmittersRCV002247030RCV003157106RCV003530218
NM_000059.4(BRCA2):c.5165G>C (p.Ser1722Thr) SNV
Germline		 Chr13:32339520 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_773707172

4 SubmittersRCV002250807RCV002337415RCV003530219
NM_000465.4(BARD1):c.216-3A>T SNV
Germline		 Chr2:214792448 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1329481396

2 SubmittersRCV002254852RCV003320877
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter) SNV
Germline		 Chr17:61716060 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group J		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2144384208

5 SubmittersRCV002257010RCV003329439RCV003336512RCV004017912RCV003774762
NM_000059.4(BRCA2):c.1928T>G (p.Val643Gly) SNV
Germline		 Chr13:32336283 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_922597695

4 SubmittersRCV002257058RCV003774764
NM_000059.4(BRCA2):c.2798C>T (p.Thr933Ile) SNV
Germline		 Chr13:32337153 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications
 rs_276174830

4 SubmittersRCV002255841RCV002300658RCV004005552
NM_007294.4(BRCA1):c.3119G>T (p.Ser1040Ile) SNV
Germline		 Chr17:43092412 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_4986852

4 SubmittersRCV002258761RCV002304241
NM_007294.4(BRCA1):c.4676-85G>A SNV
Germline		 Chr17:43071323 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_1189450557

2 SubmittersRCV002258767RCV003645246
NM_007294.4(BRCA1):c.671-11T>G SNV
Germline		 Chr17:43094871 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 rs_1597880676

4 SubmittersRCV002258771RCV003774799RCV004005567
NM_000059.4(BRCA2):c.6340C>A (p.Pro2114Thr) SNV
Germline		 Chr13:32340695 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072552879

3 SubmittersRCV002273700RCV003157116RCV003530224
NM_000059.4(BRCA2):c.6922A>T (p.Lys2308Ter) SNV
Germline		 Chr13:32344638 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002282924RCV002363745RCV003164418
NM_000059.4(BRCA2):c.830A>G (p.Asn277Ser) SNV
Germline		 Chr13:32332308 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002290112RCV003157124RCV003097785
NM_024675.4(PALB2):c.47A>C (p.Lys16Thr) SNV
Germline		 Chr16:23641111 Likely pathogenic Hereditary breast ovarian cancer syndrome No Assertion Criteria Provided

1 SubmittersRCV003156021
NM_024675.4(PALB2):c.454A>T (p.Lys152Ter) SNV
Germline		 Chr16:23636092 Pathogenic Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Single Submitter

2 SubmittersRCV003156022RCV003454093
NM_024675.4(PALB2):c.3351-2A>T SNV
Germline		 Chr16:23603671 Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Single Submitter

2 SubmittersRCV002325724RCV003156024
NM_000059.4(BRCA2):c.5813G>T (p.Gly1938Val) SNV
Germline		 Chr13:32340168 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002304319RCV003157131
NM_000059.4(BRCA2):c.4613C>G (p.Ser1538Cys) SNV
Germline		 Chr13:32338968 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002297204RCV003157132
NM_000059.4(BRCA2):c.2164A>G (p.Lys722Glu) SNV
Germline		 Chr13:32336519 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002303174RCV003157139
NM_000059.4(BRCA2):c.5935A>G (p.Ser1979Gly) SNV
Germline		 Chr13:32340290 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002295867RCV003157140
NM_007294.4(BRCA1):c.2206G>C (p.Glu736Gln) SNV
Germline		 Chr17:43093325 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002304802RCV003157145
NM_007294.4(BRCA1):c.4016A>T (p.Glu1339Val) SNV
Germline		 Chr17:43091515 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002297889RCV003157146
NM_000059.4(BRCA2):c.1193T>A (p.Leu398Gln) SNV
Germline		 Chr13:32332671 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002296522RCV003157147
NM_000059.4(BRCA2):c.5422A>G (p.Ile1808Val) SNV
Germline		 Chr13:32339777 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002303746RCV003331341RCV003157161
NM_000059.4(BRCA2):c.944G>T (p.Cys315Phe) SNV
Germline		 Chr13:32332422 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002303754RCV003157162
NM_007294.4(BRCA1):c.2547A>C (p.Glu849Asp) SNV
Germline		 Chr17:43092984 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002305036RCV003157163
NM_000059.4(BRCA2):c.3005A>G (p.Asn1002Ser) SNV
Germline		 Chr13:32337360 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002304024RCV003157164
NM_007294.4(BRCA1):c.3577T>G (p.Phe1193Val) SNV
Germline		 Chr17:43091954 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002294944RCV003157177
NM_000059.4(BRCA2):c.6026A>C (p.Gln2009Pro) SNV
Germline		 Chr13:32340381 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002294947RCV003157178
NM_000059.4(BRCA2):c.1108G>A (p.Val370Ile) SNV
Germline		 Chr13:32332586 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002300361RCV003157179
NM_007294.4(BRCA1):c.1000C>G (p.Pro334Ala) SNV
Germline		 Chr17:43094531 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002300375RCV003157180
NM_000059.4(BRCA2):c.3055C>A (p.Leu1019Ile) SNV
Germline		 Chr13:32337410 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002300472RCV003157181
NM_000059.4(BRCA2):c.1100A>C (p.Asp367Ala) SNV
Germline		 Chr13:32332578 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003157182RCV002305305
NM_007294.4(BRCA1):c.1273T>C (p.Ser425Pro) SNV
Germline		 Chr17:43094258 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002305307RCV003157183RCV003491079
NM_000059.4(BRCA2):c.4675T>G (p.Phe1559Val) SNV
Germline		 Chr13:32339030 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002297012RCV003157129
NM_000059.4(BRCA2):c.3118A>G (p.Thr1040Ala) SNV
Germline		 Chr13:32337473 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002297145RCV003157130
NM_000059.4(BRCA2):c.4514C>G (p.Thr1505Ser) SNV
Germline		 Chr13:32338869 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002297478RCV003157144
NM_000059.4(BRCA2):c.6317T>G (p.Leu2106Arg) SNV
Germline		 Chr13:32340672 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002302049RCV003157159
NM_000059.4(BRCA2):c.5585T>C (p.Val1862Ala) SNV
Germline		 Chr13:32339940 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002302057RCV003157160
NM_007294.4(BRCA1):c.2426A>C (p.Glu809Ala) SNV
Germline		 Chr17:43093105 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002303705RCV002443303
NM_007294.4(BRCA1):c.4022T>C (p.Val1341Ala) SNV
Germline		 Chr17:43091509 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003157173RCV002305246
NM_000059.4(BRCA2):c.2301C>G (p.Ser767Arg) SNV
Germline		 Chr13:32336656 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002427771RCV002300135
NM_000059.4(BRCA2):c.5066C>T (p.Ala1689Val) SNV
Germline		 Chr13:32339421 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002294755RCV003157174
NM_000059.4(BRCA2):c.6492G>C (p.Gln2164His) SNV
Germline		 Chr13:32340847 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002294776RCV003157175
NM_000059.4(BRCA2):c.5901G>C (p.Lys1967Asn) SNV
Germline		 Chr13:32340256 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002294852RCV003157176
NM_000059.4(BRCA2):c.805A>C (p.Thr269Pro) SNV
Germline		 Chr13:32332283 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002304472RCV003157136
NM_000059.4(BRCA2):c.5198C>G (p.Ser1733Cys) SNV
Germline		 Chr13:32339553 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002299473RCV003157137
NM_000059.4(BRCA2):c.4428C>A (p.Asp1476Glu) SNV
Germline		 Chr13:32338783 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002301249RCV003157138
NM_000059.4(BRCA2):c.3416A>T (p.Lys1139Met) SNV
Germline		 Chr13:32337771 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002299952RCV003157151
NM_007294.4(BRCA1):c.1447A>G (p.Ile483Val) SNV
Germline		 Chr17:43094084 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002301628RCV003157152
NM_000059.4(BRCA2):c.3755C>T (p.Ser1252Phe) SNV
Germline		 Chr13:32338110 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002301648RCV003157153
NM_007294.4(BRCA1):c.1034A>G (p.Asp345Gly) SNV
Germline		 Chr17:43094497 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002301733RCV003157154
NM_000059.4(BRCA2):c.6772G>C (p.Glu2258Gln) SNV
Germline		 Chr13:32341127 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002301770RCV003157155
NM_007294.4(BRCA1):c.1088A>C (p.Asn363Thr) SNV
Germline		 Chr17:43094443 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002296726RCV003157156
NM_000059.4(BRCA2):c.4130A>G (p.Asn1377Ser) SNV
Germline		 Chr13:32338485 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002296728RCV003157157RCV004005604
NM_007294.4(BRCA1):c.3413G>A (p.Gly1138Glu) SNV
Germline		 Chr17:43092118 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002296773RCV003157158
NM_000059.4(BRCA2):c.3079A>G (p.Ser1027Gly) SNV
Germline		 Chr13:32337434 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002305155RCV002319753
NM_007294.4(BRCA1):c.3218G>T (p.Gly1073Val) SNV
Germline		 Chr17:43092313 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002305175RCV003157172
NM_000059.4(BRCA2):c.4163C>G (p.Thr1388Ser) SNV
Germline		 Chr13:32338518 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002295179RCV003157194
NM_000059.4(BRCA2):c.4151T>C (p.Leu1384Ser) SNV
Germline		 Chr13:32338506 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002295187RCV003157195
NM_007294.4(BRCA1):c.1311T>A (p.His437Gln) SNV
Germline		 Chr17:43094220 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002295249RCV003157196
NM_000059.4(BRCA2):c.1949A>C (p.Asn650Thr) SNV
Germline		 Chr13:32336304 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002302879RCV003157128
NM_000059.4(BRCA2):c.6764C>T (p.Thr2255Ile) SNV
Germline		 Chr13:32341119 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002303005RCV002363749
NM_007294.4(BRCA1):c.1767C>G (p.Ser589Arg) SNV
Germline		 Chr17:43093764 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002299270RCV003157134
NM_007294.4(BRCA1):c.3909G>T (p.Leu1303Phe) SNV
Germline		 Chr17:43091622 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002299307RCV003157135
NM_000059.4(BRCA2):c.2357C>T (p.Ser786Phe) SNV
Germline		 Chr13:32336712 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002304711RCV003157141
NM_000059.4(BRCA2):c.6466T>G (p.Ser2156Ala) SNV
Germline		 Chr13:32340821 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002295980RCV003157142
NM_007294.4(BRCA1):c.1988G>A (p.Ser663Asn) SNV
Germline		 Chr17:43093543 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002296018RCV003157143
NM_000059.4(BRCA2):c.4561C>G (p.Leu1521Val) SNV
Germline		 Chr13:32338916 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002304854RCV003157148RCV004005602
NM_007294.4(BRCA1):c.3758C>T (p.Ser1253Phe) SNV
Germline		 Chr17:43091773 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002299714RCV002363756
NM_000059.4(BRCA2):c.850G>A (p.Gly284Arg) SNV
Germline		 Chr13:32332328 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002299718RCV003157149
NM_000059.4(BRCA2):c.3721T>G (p.Phe1241Val) SNV
Germline		 Chr13:32338076 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002299857RCV003157150
NM_000059.4(BRCA2):c.6019A>G (p.Thr2007Ala) SNV
Germline		 Chr13:32340374 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002304105RCV003157165
NM_000059.4(BRCA2):c.868G>A (p.Val290Ile) SNV
Germline		 Chr13:32332346 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003157166RCV002304161
NM_007294.4(BRCA1):c.2066G>A (p.Ser689Asn) SNV
Germline		 Chr17:43093465 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002304200RCV002416567
NM_007294.4(BRCA1):c.2164G>T (p.Val722Phe) SNV
Germline		 Chr17:43093367 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003157167RCV002297911
NM_000059.4(BRCA2):c.2833A>G (p.Lys945Glu) SNV
Germline		 Chr13:32337188 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003157168RCV002297936
NM_000059.4(BRCA2):c.3224G>C (p.Ser1075Thr) SNV
Germline		 Chr13:32337579 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002305104RCV003157169
NM_000059.4(BRCA2):c.1279G>T (p.Asp427Tyr) SNV
Germline		 Chr13:32332757 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002298043RCV003157170
NM_000059.4(BRCA2):c.5757G>C (p.Lys1919Asn) SNV
Germline		 Chr13:32340112 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002305129RCV003157171
NM_000059.4(BRCA2):c.283G>C (p.Val95Leu) SNV
Germline		 Chr13:32319292 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002305348RCV002434634
NM_007294.4(BRCA1):c.1942G>A (p.Glu648Lys) SNV
Germline		 Chr17:43093589 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003157184RCV002305360
NM_000059.4(BRCA2):c.4013G>T (p.Gly1338Val) SNV
Germline		 Chr13:32338368 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002294964RCV003157185RCV003478962
NM_000059.4(BRCA2):c.1789G>C (p.Glu597Gln) SNV
Germline		 Chr13:32333267 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002294995RCV004005608RCV003157186
NM_007294.4(BRCA1):c.741C>A (p.Asn247Lys) SNV
Germline		 Chr17:43094790 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002294996RCV003157187
NM_007294.4(BRCA1):c.3135T>A (p.Asn1045Lys) SNV
Germline		 Chr17:43092396 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002295057RCV003157188
NM_007294.4(BRCA1):c.2698A>T (p.Thr900Ser) SNV
Germline		 Chr17:43092833 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002302210RCV003157189
NM_007294.4(BRCA1):c.2479G>A (p.Glu827Lys) SNV
Germline		 Chr17:43093052 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002302284RCV003157190
NM_000059.4(BRCA2):c.1475C>G (p.Ser492Cys) SNV
Germline		 Chr13:32332953 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002302286RCV003157191
NM_000059.4(BRCA2):c.5713C>T (p.His1905Tyr) SNV
Germline		 Chr13:32340068 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002295073RCV003157192
NM_000059.4(BRCA2):c.4375A>T (p.Asn1459Tyr) SNV
Germline		 Chr13:32338730 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002302325RCV002332974
NM_000059.4(BRCA2):c.2020G>C (p.Glu674Gln) SNV
Germline		 Chr13:32336375 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002295127RCV003157193
NM_007294.4(BRCA1):c.3072C>A (p.Ser1024Arg) SNV
Germline		 Chr17:43092459 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002319785RCV003099168
NM_000059.4(BRCA2):c.1139G>C (p.Ser380Thr) SNV
Germline		 Chr13:32332617 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002454807RCV003775603
NM_000059.4(BRCA2):c.3538A>G (p.Lys1180Glu) SNV
Germline		 Chr13:32337893 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002459454RCV003645256
NM_000059.4(BRCA2):c.3887A>G (p.Asn1296Ser) SNV
Germline		 Chr13:32338242 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications

5 SubmittersRCV002366334RCV003403789RCV003645263RCV004005646
NM_000059.4(BRCA2):c.4081C>T (p.Gln1361Ter) SNV
Germline		 Chr13:32338436 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002323128RCV003645267
NM_007294.4(BRCA1):c.4084G>T (p.Asp1362Tyr) SNV
Germline		 Chr17:43091447 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002323145RCV003645268
NM_000059.4(BRCA2):c.4099A>T (p.Lys1367Ter) SNV
Germline		 Chr13:32338454 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002323285RCV003102520
NM_007294.4(BRCA1):c.3188C>T (p.Ser1063Phe) SNV
Germline		 Chr17:43092343 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002322810RCV003102325
NM_007294.4(BRCA1):c.3324A>G (p.Ile1108Met) SNV
Germline		 Chr17:43092207 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002326408RCV003645253
NM_007294.4(BRCA1):c.3346G>A (p.Val1116Ile) SNV
Germline		 Chr17:43092185 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002326639RCV003645254
NM_000059.4(BRCA2):c.3511C>T (p.Pro1171Ser) SNV
Germline		 Chr13:32337866 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002459226RCV003645255
NM_007294.4(BRCA1):c.3670C>T (p.Pro1224Ser) SNV
Germline		 Chr17:43091861 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002452653RCV003645259
NM_007294.4(BRCA1):c.3683A>G (p.His1228Arg) SNV
Germline		 Chr17:43091848 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002346702RCV003645260
NM_007294.4(BRCA1):c.3860A>C (p.Glu1287Ala) SNV
Germline		 Chr17:43091671 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002366233RCV003094407
NM_007294.4(BRCA1):c.1162A>G (p.Arg388Gly) SNV
Germline		 Chr17:43094369 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002359485RCV003645266
NM_000059.4(BRCA2):c.4199A>G (p.His1400Arg) SNV
Germline		 Chr13:32338554 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002327814RCV003094579RCV003234591
NM_007294.4(BRCA1):c.441+1G>C SNV
Germline		 Chr17:43104121 Likely pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002333819RCV003485777
NM_000059.4(BRCA2):c.4420A>G (p.Lys1474Glu) SNV
Germline		 Chr13:32338775 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002333902RCV003094692
NM_007294.4(BRCA1):c.3167C>A (p.Ser1056Tyr) SNV
Germline		 Chr17:43092364 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002322581RCV003645249
NM_000059.4(BRCA2):c.3106G>C (p.Glu1036Gln) SNV
Germline		 Chr13:32337461 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002326030RCV003645248
NM_000059.4(BRCA2):c.3263C>A (p.Pro1088His) SNV
Germline		 Chr13:32337618 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002324983RCV003645252
NM_000059.4(BRCA2):c.3928A>G (p.Thr1310Ala) SNV
Germline		 Chr13:32338283 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002373205RCV003645264
NM_000059.4(BRCA2):c.3952G>A (p.Glu1318Lys) SNV
Germline		 Chr13:32338307 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002375436RCV003493935RCV003645265
NM_000059.4(BRCA2):c.4112A>G (p.Gln1371Arg) SNV
Germline		 Chr13:32338467 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002323426RCV003645269
NM_000059.4(BRCA2):c.4123G>A (p.Glu1375Lys) SNV
Germline		 Chr13:32338478 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002333015RCV003775821
NM_000059.4(BRCA2):c.4144G>T (p.Glu1382Ter) SNV
Germline		 Chr13:32338499 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002333172RCV003094545
NM_000059.4(BRCA2):c.4424T>A (p.Met1475Lys) SNV
Germline		 Chr13:32338779 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002333922RCV003645275
NM_000059.4(BRCA2):c.4429A>T (p.Ile1477Phe) SNV
Germline		 Chr13:32338784 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002333943RCV003094695
NM_007294.4(BRCA1):c.5424G>A (p.Val1808=) SNV
Germline		 Chr17:43047686 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002349513RCV003645289
NM_000059.4(BRCA2):c.5447G>T (p.Ser1816Ile) SNV
Germline		 Chr13:32339802 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002349629RCV003096743RCV003476964
NM_000059.4(BRCA2):c.5762T>C (p.Phe1921Ser) SNV
Germline		 Chr13:32340117 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002359603RCV003103227
NM_000059.4(BRCA2):c.6015T>A (p.Asp2005Glu) SNV
Germline		 Chr13:32340370 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002358080RCV003098103
NM_000059.4(BRCA2):c.6294T>G (p.Ser2098=) SNV
Germline		 Chr13:32340649 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002368748RCV003530245RCV003476968RCV004005721
NM_000059.4(BRCA2):c.6296G>A (p.Arg2099Lys) SNV
Germline		 Chr13:32340651 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002368752RCV003120944
NM_000059.4(BRCA2):c.6320C>T (p.Pro2107Leu) SNV
Germline		 Chr13:32340675 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002353998RCV003098205
NM_007294.4(BRCA1):c.4606G>A (p.Glu1536Lys) SNV
Germline		 Chr17:43074400 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002342413RCV003775928
NM_000059.4(BRCA2):c.4641T>A (p.Asp1547Glu) SNV
Germline		 Chr13:32338996 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002342614RCV003096396RCV003476958
NM_007294.4(BRCA1):c.4875T>G (p.Tyr1625Ter) SNV
Germline		 Chr17:43071039 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002330816RCV003530237
NM_000059.4(BRCA2):c.5357G>C (p.Ser1786Thr) SNV
Germline		 Chr13:32339712 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002346992RCV003645287
NM_000059.4(BRCA2):c.5395G>T (p.Ala1799Ser) SNV
Germline		 Chr13:32339750 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002347207RCV003096720
NM_000059.4(BRCA2):c.5917A>T (p.Asn1973Tyr) SNV
Germline		 Chr13:32340272 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002355775RCV003098055
NM_000059.4(BRCA2):c.6221A>G (p.His2074Arg) SNV
Germline		 Chr13:32340576 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002366532RCV003098171RCV003321933
NM_000059.4(BRCA2):c.5033A>G (p.Lys1678Arg) SNV
Germline		 Chr13:32339388 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002335634RCV003645283
NM_007294.4(BRCA1):c.5580C>A (p.His1860Gln) SNV
Germline		 Chr17:43045690 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002344752RCV003776129
NM_000059.4(BRCA2):c.5583A>T (p.Lys1861Asn) SNV
Germline		 Chr13:32339938 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002344763RCV003645290
NM_000059.4(BRCA2):c.5617G>A (p.Val1873Ile) SNV
Germline		 Chr13:32339972 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002344986RCV003645291
NM_000059.4(BRCA2):c.5846A>T (p.Asp1949Val) SNV
Germline		 Chr13:32340201 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002353304RCV003645294
NM_000059.4(BRCA2):c.5854T>A (p.Leu1952Met) SNV
Germline		 Chr13:32340209 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002353358RCV003530243
NM_000059.4(BRCA2):c.6157T>C (p.Ser2053Pro) SNV
Germline		 Chr13:32340512 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002360462RCV003103271
NM_000059.4(BRCA2):c.6477A>C (p.Gln2159His) SNV
Germline		 Chr13:32340832 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002356186RCV003530246
NM_000059.4(BRCA2):c.6742C>T (p.His2248Tyr) SNV
Germline		 Chr13:32341097 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002377945RCV003607477RCV003530248
NM_000059.4(BRCA2):c.4490T>G (p.Val1497Gly) SNV
Germline		 Chr13:32338845 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002328622RCV003094728
NM_007294.4(BRCA1):c.4528A>G (p.Met1510Val) SNV
Germline		 Chr17:43074478 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002340022RCV003094741
NM_000059.4(BRCA2):c.4763C>T (p.Ala1588Val) SNV
Germline		 Chr13:32339118 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002337679RCV003645280
NM_000059.4(BRCA2):c.5216A>C (p.Tyr1739Ser) SNV
Germline		 Chr13:32339571 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002340792RCV003096657
NM_000059.4(BRCA2):c.5246A>G (p.Tyr1749Cys) SNV
Germline		 Chr13:32339601 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002340919RCV003776071
NM_000059.4(BRCA2):c.5266G>A (p.Val1756Ile) SNV
Germline		 Chr13:32339621 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002341047RCV003645286
NM_000059.4(BRCA2):c.1198C>T (p.Leu400Phe) SNV
Germline		 Chr13:32332676 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002344409RCV003530240
NM_000059.4(BRCA2):c.6107C>G (p.Pro2036Arg) SNV
Germline		 Chr13:32340462 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002360196RCV003098140
NM_000059.4(BRCA2):c.6371A>C (p.Lys2124Thr) SNV
Germline		 Chr13:32340726 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002354046RCV003776247
NM_000059.4(BRCA2):c.6823G>C (p.Glu2275Gln) SNV
Germline		 Chr13:32341178 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002369620RCV003098396
NM_000059.4(BRCA2):c.6833T>C (p.Ile2278Thr) SNV
Germline		 Chr13:32341188 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002362030RCV003645296
NM_000059.4(BRCA2):c.1238T>C (p.Leu413Pro) SNV
Germline		 Chr13:32332716 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002378377RCV003645297
NM_000059.4(BRCA2):c.787A>C (p.Ser263Arg) SNV
Germline		 Chr13:32331024 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002412295RCV003099770
NM_000059.4(BRCA2):c.7901T>A (p.Met2634Lys) SNV
Germline		 Chr13:32362618 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002416658RCV003776455
NM_007294.4(BRCA1):c.871T>G (p.Leu291Val) SNV
Germline		 Chr17:43094660 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002373477RCV003530257
NM_000059.4(BRCA2):c.9180T>G (p.Phe3060Leu) SNV
Germline		 Chr13:32380069 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002378900RCV003100115
NM_000059.4(BRCA2):c.6757C>T (p.Leu2253Phe) SNV
Germline		 Chr13:32341112 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002369239RCV003776308RCV004005736
NM_007294.4(BRCA1):c.956A>C (p.Asn319Thr) SNV
Germline		 Chr17:43094575 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002385203RCV003645310
NM_000059.4(BRCA2):c.6673A>G (p.Thr2225Ala) SNV
Germline		 Chr13:32341028 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002366973RCV003108048
NM_007294.4(BRCA1):c.1228G>C (p.Ala410Pro) SNV
Germline		 Chr17:43094303 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002367051RCV003776297
NM_000059.4(BRCA2):c.67+5T>C SNV
Germline		 Chr13:32316532 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002367168RCV003098339
NM_007294.4(BRCA1):c.670+1G>A SNV
Germline		 Chr17:43095845 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002367169RCV003464481RCV003776299
NM_000059.4(BRCA2):c.7322G>A (p.Gly2441Asp) SNV
Germline		 Chr13:32355175 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002380121RCV003103388
NM_007294.4(BRCA1):c.806T>A (p.Leu269Ter) SNV
Germline		 Chr17:43094725 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Periventricular nodular heterotopia		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002419371RCV004579586RCV004526928
NM_007294.4(BRCA1):c.1277C>T (p.Ser426Leu) SNV
Germline		 Chr17:43094254 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002373947RCV003094805
NM_007294.4(BRCA1):c.931C>T (p.Pro311Ser) SNV
Germline		 Chr17:43094600 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002371603RCV003774169
NM_000059.4(BRCA2):c.9732C>T (p.Val3244=) SNV
Germline		 Chr13:32398245 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002387065RCV003094865
NM_007294.4(BRCA1):c.1426C>T (p.His476Tyr) SNV
Germline		 Chr17:43094105 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002391940RCV003108073
NM_000059.4(BRCA2):c.1666A>C (p.Asn556His) SNV
Germline		 Chr13:32333144 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002403891RCV003645316
NM_000059.4(BRCA2):c.1343G>C (p.Arg448Pro) SNV
Germline		 Chr13:32332821 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002387761RCV003103654
NM_000059.4(BRCA2):c.1480G>T (p.Val494Leu) SNV
Germline		 Chr13:32332958 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002397137RCV003645313
NM_000059.4(BRCA2):c.1562C>G (p.Ser521Ter) SNV
Germline		 Chr13:32333040 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002405437RCV003530260
NM_000059.4(BRCA2):c.1654T>A (p.Ser552Thr) SNV
Germline		 Chr13:32333132 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002395050RCV003097066
NM_007294.4(BRCA1):c.1540C>T (p.Pro514Ser) SNV
Germline		 Chr17:43093991 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002403165RCV003095310
NM_000059.4(BRCA2):c.1883C>T (p.Pro628Leu) SNV
Germline		 Chr13:32333361 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002415344RCV003100915RCV003493950
NM_000059.4(BRCA2):c.1294G>C (p.Glu432Gln) SNV
Germline		 Chr13:32332772 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002380618RCV003094926
NM_007294.4(BRCA1):c.1378A>C (p.Ile460Leu) SNV
Germline		 Chr17:43094153 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002381086RCV003095060
NM_007294.4(BRCA1):c.1438A>C (p.Asn480His) SNV
Germline		 Chr17:43094093 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002394298RCV003095162
NM_007294.4(BRCA1):c.1694A>C (p.Glu565Ala) SNV
Germline		 Chr17:43093837 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002406198RCV003645317RCV004007353
NM_007294.4(BRCA1):c.1777A>C (p.Asn593His) SNV
Germline		 Chr17:43093754 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002404000RCV003100827
NM_000059.4(BRCA2):c.1064T>G (p.Val355Gly) SNV
Germline		 Chr13:32332542 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002413025RCV003645320
NM_000059.4(BRCA2):c.1843A>C (p.Asn615His) SNV
Germline		 Chr13:32333321 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002412880RCV003530262
NM_007294.4(BRCA1):c.2075A>G (p.His692Arg) SNV
Germline		 Chr17:43093456 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002422196RCV003101040
NM_007294.4(BRCA1):c.2084A>G (p.Asp695Gly) SNV
Germline		 Chr17:43093447 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002423919RCV003121027
NM_007294.4(BRCA1):c.2168A>G (p.Asn723Ser) SNV
Germline		 Chr17:43093363 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002432668RCV003645322
NM_000059.4(BRCA2):c.2170A>T (p.Lys724Ter) SNV
Germline		 Chr13:32336525 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002432729RCV003101106
NM_000059.4(BRCA2):c.2179T>C (p.Ser727Pro) SNV
Germline		 Chr13:32336534 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002432862RCV003098690
NM_000059.4(BRCA2):c.2146C>T (p.Gln716Ter) SNV
Germline		 Chr13:32336501 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002430620RCV003098655
NM_007294.4(BRCA1):c.2359G>A (p.Glu787Lys) SNV
Germline		 Chr17:43093172 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002457698RCV003101756
NM_000059.4(BRCA2):c.2494G>C (p.Glu832Gln) SNV
Germline		 Chr13:32336849 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002430988RCV003530267
NM_000059.4(BRCA2):c.2608A>G (p.Ile870Val) SNV
Germline		 Chr13:32336963 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002437152RCV003645326
NM_000059.4(BRCA2):c.1934G>T (p.Arg645Ile) SNV
Germline		 Chr13:32336289 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002410970RCV003100946RCV003388117
NM_007294.4(BRCA1):c.2020C>A (p.Pro674Thr) SNV
Germline		 Chr17:43093511 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002419577RCV003097430
NM_007294.4(BRCA1):c.2110A>G (p.Asn704Asp) SNV
Germline		 Chr17:43093421 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002417476RCV003098625
NM_007294.4(BRCA1):c.2341G>T (p.Glu781Ter) SNV
Germline		 Chr17:43093190 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002428522RCV002509841
NM_000059.4(BRCA2):c.2440C>A (p.Pro814Thr) SNV
Germline		 Chr13:32336795 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002460034RCV003645323
NM_000059.4(BRCA2):c.2445G>A (p.Met815Ile) SNV
Germline		 Chr13:32336800 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002455391RCV003775253
NM_007294.4(BRCA1):c.2446C>G (p.His816Asp) SNV
Germline		 Chr17:43093085 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002450476RCV003101830
NM_007294.4(BRCA1):c.2091C>G (p.Phe697Leu) SNV
Germline		 Chr17:43093440 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002424049RCV003645321
NM_000059.4(BRCA2):c.2186T>G (p.Ile729Arg) SNV
Germline		 Chr13:32336541 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002425491RCV003482167
NM_007294.4(BRCA1):c.2194G>A (p.Glu732Lys) SNV
Germline		 Chr17:43093337 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002425583RCV003530266
NM_000059.4(BRCA2):c.2527G>C (p.Ala843Pro) SNV
Germline		 Chr13:32336882 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002433096RCV003101923
NM_007294.4(BRCA1):c.2533A>G (p.Ile845Val) SNV
Germline		 Chr17:43092998 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002433185RCV003101936
NM_007294.4(BRCA1):c.1108G>T (p.Val370Phe) SNV
Germline		 Chr17:43094423 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications

5 SubmittersRCV002453095RCV003314734RCV003645327RCV004007439
NM_000059.4(BRCA2):c.2798C>A (p.Thr933Lys) SNV
Germline		 Chr13:32337153 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002441480RCV003645328
NM_007294.4(BRCA1):c.2820T>A (p.Asp940Glu) SNV
Germline		 Chr17:43092711 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002434979RCV003102757
NM_000059.4(BRCA2):c.2747G>A (p.Cys916Tyr) SNV
Germline		 Chr13:32337102 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002439308RCV003102169
NM_000059.4(BRCA2):c.3055C>T (p.Leu1019Phe) SNV
Germline		 Chr13:32337410 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002444142RCV003775452
NM_007294.4(BRCA1):c.3062G>C (p.Ser1021Thr) SNV
Germline		 Chr17:43092469 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002444235RCV003103022
NM_007294.4(BRCA1):c.1548T>C (p.Asp516=) SNV
Germline		 Chr17:43093983 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002481126RCV002574714
NM_000059.4(BRCA2):c.3744T>A (p.Ser1248Arg) SNV
Germline		 Chr13:32338099 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002481127RCV003157206RCV003530271
NM_000059.4(BRCA2):c.841G>C (p.Asp281His) SNV
Germline		 Chr13:32332319 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003051467RCV003157964
NM_007294.4(BRCA1):c.1546G>C (p.Asp516His) SNV
Germline		 Chr17:43093985 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003050478RCV003157962
NM_000059.4(BRCA2):c.3371A>C (p.Gln1124Pro) SNV
Germline		 Chr13:32337726 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003062572RCV003157958
NM_000059.4(BRCA2):c.3814A>T (p.Met1272Leu) SNV
Germline		 Chr13:32338169 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003062573RCV003157959
NM_000059.4(BRCA2):c.4256A>C (p.Lys1419Thr) SNV
Germline		 Chr13:32338611 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003041185RCV003157960
NM_007294.4(BRCA1):c.1100C>A (p.Thr367Asn) SNV
Germline		 Chr17:43094431 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003070738RCV003157963
NM_000059.4(BRCA2):c.3487G>A (p.Asp1163Asn) SNV
Germline		 Chr13:32337842 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003074292RCV003157965
NM_007294.4(BRCA1):c.2741A>G (p.Glu914Gly) SNV
Germline		 Chr17:43092790 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003063444RCV003157966
NM_007294.4(BRCA1):c.3118A>G (p.Ser1040Gly) SNV
Germline		 Chr17:43092413 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003085678RCV003157967
NM_000059.4(BRCA2):c.1572G>C (p.Met524Ile) SNV
Germline		 Chr13:32333050 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003072858RCV003157969
NM_000059.4(BRCA2):c.3524A>G (p.Gln1175Arg) SNV
Germline		 Chr13:32337879 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003072859RCV003157970RCV003607560
NM_007294.4(BRCA1):c.2324C>G (p.Thr775Ser) SNV
Germline		 Chr17:43093207 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003087404RCV003157971
NM_000059.4(BRCA2):c.2402A>G (p.Asn801Ser) SNV
Germline		 Chr13:32336757 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003083869RCV003157968
NM_007294.4(BRCA1):c.1276T>G (p.Ser426Ala) SNV
Germline		 Chr17:43094255 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003070195RCV003157972
NM_000059.4(BRCA2):c.4768A>G (p.Lys1590Glu) SNV
Germline		 Chr13:32339123 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002581963RCV003157973
NM_000059.4(BRCA2):c.1556G>A (p.Ser519Asn) SNV
Germline		 Chr13:32333034 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

5 SubmittersRCV002620477RCV003477051RCV003157975
NM_007294.4(BRCA1):c.1975C>T (p.Pro659Ser) SNV
Germline		 Chr17:43093556 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002595340RCV003157974
NM_007294.4(BRCA1):c.2080A>G (p.Ser694Gly) SNV
Germline		 Chr17:43093451 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002623908RCV003157976
NM_000059.4(BRCA2):c.2138A>G (p.Gln713Arg) SNV
Germline		 Chr13:32336493 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003122060RCV003157982
NM_000059.4(BRCA2):c.3674C>G (p.Thr1225Arg) SNV
Germline		 Chr13:32338029 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003109192RCV003157980
NM_007294.4(BRCA1):c.4359A>T (p.Ala1453=) SNV
Germline		 Chr17:43076613 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003118885RCV003341534
NM_000059.4(BRCA2):c.872T>C (p.Leu291Pro) SNV
Germline		 Chr13:32332350 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003110384RCV003157979
NM_000059.4(BRCA2):c.5114T>C (p.Ile1705Thr) SNV
Germline		 Chr13:32339469 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002587273RCV003157209
NM_000059.4(BRCA2):c.5357G>A (p.Ser1786Asn) SNV
Germline		 Chr13:32339712 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002580393RCV003157208
NM_000059.4(BRCA2):c.2776A>G (p.Thr926Ala) SNV
Germline		 Chr13:32337131 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002604219RCV003157212
NM_000059.4(BRCA2):c.2525T>C (p.Val842Ala) SNV
Germline		 Chr13:32336880 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002630108RCV003157211
NM_007294.4(BRCA1):c.3873T>A (p.Cys1291Ter) SNV
Germline		 Chr17:43091658 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002618686
NM_007294.4(BRCA1):c.1765A>G (p.Ser589Gly) SNV
Germline		 Chr17:43093766 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002654337RCV003157216RCV004007538
NM_007294.4(BRCA1):c.3391G>C (p.Asp1131His) SNV
Germline		 Chr17:43092140 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002646212RCV003157213
NM_007294.4(BRCA1):c.3956G>C (p.Gly1319Ala) SNV
Germline		 Chr17:43091575 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002650374RCV003157214
NM_007294.4(BRCA1):c.1972A>G (p.Met658Val) SNV
Germline		 Chr17:43093559 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002659045RCV003157215
NM_000059.4(BRCA2):c.3049A>G (p.Ile1017Val) SNV
Germline		 Chr13:32337404 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002676259RCV003157217
NM_000059.4(BRCA2):c.3877A>G (p.Ile1293Val) SNV
Germline		 Chr13:32338232 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003157218RCV002676485
NM_000059.4(BRCA2):c.3078G>C (p.Lys1026Asn) SNV
Germline		 Chr13:32337433 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002695553RCV003157222
NM_007294.4(BRCA1):c.2011G>A (p.Gly671Ser) SNV
Germline		 Chr17:43093520 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002706764RCV003157228
NM_007294.4(BRCA1):c.3469G>C (p.Gly1157Arg) SNV
Germline		 Chr17:43092062 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002725709RCV003157225RCV004007559
NM_000059.4(BRCA2):c.4372C>A (p.His1458Asn) SNV
Germline		 Chr13:32338727 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002706512RCV003157227
NM_007294.4(BRCA1):c.2483G>C (p.Gly828Ala) SNV
Germline		 Chr17:43093048 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002725924RCV003157229
NM_000059.4(BRCA2):c.4624G>T (p.Val1542Leu) SNV
Germline		 Chr13:32338979 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002686260RCV003157219
NM_000059.4(BRCA2):c.1889C>G (p.Thr630Arg) SNV
Germline		 Chr13:32333367 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002700930RCV003157223
NM_000059.4(BRCA2):c.6605A>T (p.Asp2202Val) SNV
Germline		 Chr13:32340960 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002706312RCV003157226
NM_000059.4(BRCA2):c.6777T>A (p.Asn2259Lys) SNV
Germline		 Chr13:32341132 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002705621RCV003157220RCV003477013
NM_000059.4(BRCA2):c.4099A>C (p.Lys1367Gln) SNV
Germline		 Chr13:32338454 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002690070RCV003157221RCV003477014
NM_000059.4(BRCA2):c.1745C>G (p.Thr582Ser) SNV
Germline		 Chr13:32333223 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002691075RCV003157224
NM_000059.4(BRCA2):c.3853G>T (p.Glu1285Ter) SNV
Germline		 Chr13:32338208 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002760189
NM_000059.4(BRCA2):c.5758G>A (p.Val1920Ile) SNV
Germline		 Chr13:32340113 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002721846RCV003157230
NM_000059.4(BRCA2):c.1816C>G (p.Pro606Ala) SNV
Germline		 Chr13:32333294 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002721847RCV003157231
NM_000059.4(BRCA2):c.5572A>G (p.Thr1858Ala) SNV
Germline		 Chr13:32339927 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002712127RCV003157232
NM_007294.4(BRCA1):c.2047A>C (p.Lys683Gln) SNV
Germline		 Chr17:43093484 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002730592RCV003157233
NM_000059.4(BRCA2):c.1171T>G (p.Leu391Val) SNV
Germline		 Chr13:32332649 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV002746723RCV003157235RCV004007579
NM_007294.4(BRCA1):c.1453G>A (p.Ala485Thr) SNV
Germline		 Chr17:43094078 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002765821RCV003157234
NM_007294.4(BRCA1):c.2230G>C (p.Ala744Pro) SNV
Germline		 Chr17:43093301 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002766060RCV003157236
NM_000059.4(BRCA2):c.7647C>T (p.Cys2549=) SNV
Germline		 Chr13:32357771 Conflicting classifications of pathogenicity Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003477017RCV002780674
NM_000059.4(BRCA2):c.1114A>T (p.Asn372Tyr) SNV
Germline		 Chr13:32332592 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002805842RCV003157240
NM_000059.4(BRCA2):c.2303C>G (p.Thr768Ser) SNV
Germline		 Chr13:32336658 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002756276RCV003157237RCV004007585
NM_007294.4(BRCA1):c.1929T>A (p.Ser643Arg) SNV
Germline		 Chr17:43093602 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002790456RCV003157238
NM_000059.4(BRCA2):c.4070T>C (p.Leu1357Pro) SNV
Germline		 Chr13:32338425 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002781346RCV003157239
NM_000059.4(BRCA2):c.6377G>A (p.Cys2126Tyr) SNV
Germline		 Chr13:32340732 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002819193RCV003157243
NM_000059.4(BRCA2):c.4443G>C (p.Glu1481Asp) SNV
Germline		 Chr13:32338798 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002824533RCV003157251
NM_000059.4(BRCA2):c.4496C>T (p.Thr1499Ile) SNV
Germline		 Chr13:32338851 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002832918RCV003157257
NM_000059.4(BRCA2):c.4078G>T (p.Asp1360Tyr) SNV
Germline		 Chr13:32338433 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002828079RCV003157261
NM_007294.4(BRCA1):c.1962G>C (p.Lys654Asn) SNV
Germline		 Chr17:43093569 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002825310RCV003157266
NM_007294.4(BRCA1):c.2175C>G (p.Ser725Arg) SNV
Germline		 Chr17:43093356 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002814487RCV003157241
NM_007294.4(BRCA1):c.4092C>G (p.Asn1364Lys) SNV
Germline		 Chr17:43091439 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002796316RCV003157242
NM_000059.4(BRCA2):c.5036C>T (p.Thr1679Ile) SNV
Germline		 Chr13:32339391 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002810257RCV003157245
NM_000059.4(BRCA2):c.4329T>G (p.Phe1443Leu) SNV
Germline		 Chr13:32338684 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002832786RCV003157253
NM_000059.4(BRCA2):c.1052A>G (p.Lys351Arg) SNV
Germline		 Chr13:32332530 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002815598RCV003157254
NM_007294.4(BRCA1):c.2504A>G (p.His835Arg) SNV
Germline		 Chr17:43093027 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV003155494RCV003157255RCV002815712
NM_007294.4(BRCA1):c.1904A>C (p.Asn635Thr) SNV
Germline		 Chr17:43093627 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003157244RCV002801751
NM_000059.4(BRCA2):c.2777C>A (p.Thr926Asn) SNV
Germline		 Chr13:32337132 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002797113RCV003157248
NM_000059.4(BRCA2):c.6812A>C (p.Lys2271Thr) SNV
Germline		 Chr13:32341167 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002797177RCV003157249
NM_000059.4(BRCA2):c.5509T>C (p.Phe1837Leu) SNV
Germline		 Chr13:32339864 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002819751RCV003157250
NM_000059.4(BRCA2):c.1331A>G (p.Asn444Ser) SNV
Germline		 Chr13:32332809 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003157259RCV002833109
NM_000059.4(BRCA2):c.5252A>G (p.Tyr1751Cys) SNV
Germline		 Chr13:32339607 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003157260RCV002825123
NM_000059.4(BRCA2):c.5750C>T (p.Ser1917Leu) SNV
Germline		 Chr13:32340105 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002816250RCV003157264
NM_007294.4(BRCA1):c.3968A>G (p.Gln1323Arg) SNV
Germline		 Chr17:43091563 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002816301RCV003157265
NM_000059.4(BRCA2):c.1242G>T (p.Leu414Phe) SNV
Germline		 Chr13:32332720 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002797050RCV003157246
NM_007294.4(BRCA1):c.1795A>G (p.Asn599Asp) SNV
Germline		 Chr17:43093736 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002815254RCV003157247
NM_000059.4(BRCA2):c.2101T>C (p.Phe701Leu) SNV
Germline		 Chr13:32336456 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003157252RCV002810696
NM_000059.4(BRCA2):c.5194C>A (p.Leu1732Ile) SNV
Germline		 Chr13:32339549 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002820543RCV003157258
NM_000059.4(BRCA2):c.4084C>T (p.His1362Tyr) SNV
Germline		 Chr13:32338439 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002815909RCV003157262RCV003493970
NM_007294.4(BRCA1):c.2456C>A (p.Ser819Tyr) SNV
Germline		 Chr17:43093075 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002842285RCV003157271
NM_007294.4(BRCA1):c.1943A>G (p.Glu648Gly) SNV
Germline		 Chr17:43093588 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002812121RCV003157272
NM_000059.4(BRCA2):c.3087G>A (p.Met1029Ile) SNV
Germline		 Chr13:32337442 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002829084RCV003157276
NM_000059.4(BRCA2):c.1544C>A (p.Thr515Asn) SNV
Germline		 Chr13:32333022 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002843240RCV003157282
NM_007294.4(BRCA1):c.3994G>A (p.Gly1332Arg) SNV
Germline		 Chr17:43091537 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002843631RCV003157287
NM_000059.4(BRCA2):c.460C>T (p.Gln154Ter) SNV
Germline		 Chr13:32326135 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002846846
NM_000059.4(BRCA2):c.2167A>C (p.Ser723Arg) SNV
Germline		 Chr13:32336522 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002811964RCV003157268
NM_007294.4(BRCA1):c.3058C>G (p.Pro1020Ala) SNV
Germline		 Chr17:43092473 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002837971RCV003157269
NM_000059.4(BRCA2):c.5063A>G (p.Glu1688Gly) SNV
Germline		 Chr13:32339418 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002837975RCV003157270
NM_000059.4(BRCA2):c.3646T>A (p.Phe1216Ile) SNV
Germline		 Chr13:32338001 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002828683RCV003157274
NM_000059.4(BRCA2):c.6128A>C (p.Lys2043Thr) SNV
Germline		 Chr13:32340483 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002816625RCV003157275
NM_000059.4(BRCA2):c.1927G>A (p.Val643Met) SNV
Germline		 Chr13:32336282 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002838908RCV003157281
NM_007294.4(BRCA1):c.3547A>G (p.Lys1183Glu) SNV
Germline		 Chr17:43091984 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002839422RCV003157286
NM_007294.4(BRCA1):c.887G>C (p.Arg296Thr) SNV
Germline		 Chr17:43094644 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002851860RCV003157289
NM_007294.4(BRCA1):c.895G>C (p.Val299Leu) SNV
Germline		 Chr17:43094636 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002811703RCV003157267
NM_000059.4(BRCA2):c.2907A>C (p.Gln969His) SNV
Germline		 Chr13:32337262 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002850936RCV003157277
NM_007294.4(BRCA1):c.1823A>G (p.Lys608Arg) SNV
Germline		 Chr17:43093708 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002851281RCV003157279
NM_000059.4(BRCA2):c.5818G>A (p.Glu1940Lys) SNV
Germline		 Chr13:32340173 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002838620RCV003157280
NM_000059.4(BRCA2):c.3328G>A (p.Glu1110Lys) SNV
Germline		 Chr13:32337683 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002834685RCV003157283
NM_000059.4(BRCA2):c.6808G>A (p.Gly2270Arg) SNV
Germline		 Chr13:32341163 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002834686RCV003157284
NM_000059.4(BRCA2):c.6674C>G (p.Thr2225Arg) SNV
Germline		 Chr13:32341029 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002839228RCV003157285
NM_000059.4(BRCA2):c.5034A>T (p.Lys1678Asn) SNV
Germline		 Chr13:32339389 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002842443RCV003157273
NM_007294.4(BRCA1):c.1945G>A (p.Glu649Lys) SNV
Germline		 Chr17:43093586 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002851177RCV003157278RCV004007631
NM_000059.4(BRCA2):c.3766C>T (p.His1256Tyr) SNV
Germline		 Chr13:32338121 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002843867RCV003157288
NM_007294.4(BRCA1):c.2453G>T (p.Cys818Phe) SNV
Germline		 Chr17:43093078 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002866258RCV003157290
NM_007294.4(BRCA1):c.421G>T (p.Glu141Ter) SNV
Germline		 Chr17:43104142 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002880315
NM_007294.4(BRCA1):c.3220A>T (p.Arg1074Ter) SNV
Germline		 Chr17:43092311 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002885053
NM_000059.4(BRCA2):c.1004A>T (p.Glu335Val) SNV
Germline		 Chr13:32332482 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002926697RCV003157298
NM_007294.4(BRCA1):c.3176A>G (p.Asn1059Ser) SNV
Germline		 Chr17:43092355 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002885838RCV003157291
NM_000059.4(BRCA2):c.1288G>C (p.Asp430His) SNV
Germline		 Chr13:32332766 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002900287RCV003157297
NM_000059.4(BRCA2):c.3394A>T (p.Lys1132Ter) SNV
Germline		 Chr13:32337749 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002885236RCV004065020
NM_000059.4(BRCA2):c.5524C>G (p.Pro1842Ala) SNV
Germline		 Chr13:32339879 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002895087RCV003157292RCV004007659
NM_000059.4(BRCA2):c.2264C>A (p.Ser755Tyr) SNV
Germline		 Chr13:32336619 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002912465RCV003157293
NM_000059.4(BRCA2):c.5524C>T (p.Pro1842Ser) SNV
Germline		 Chr13:32339879 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002903345RCV003157294
NM_000059.4(BRCA2):c.2054A>G (p.Asp685Gly) SNV
Germline		 Chr13:32336409 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002903352RCV003157295
NM_000059.4(BRCA2):c.6594A>C (p.Glu2198Asp) SNV
Germline		 Chr13:32340949 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002913240RCV003157296
NM_007294.4(BRCA1):c.3142G>T (p.Gly1048Cys) SNV
Germline		 Chr17:43092389 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002914339RCV003157300
NM_000059.4(BRCA2):c.2688T>G (p.Asn896Lys) SNV
Germline		 Chr13:32337043 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002922668RCV003157301
NM_007294.4(BRCA1):c.2413T>G (p.Cys805Gly) SNV
Germline		 Chr17:43093118 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002919141RCV003157302
NM_000059.4(BRCA2):c.8170G>A (p.Gly2724Arg) SNV
Germline		 Chr13:32363372 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002952374
NM_000059.4(BRCA2):c.517-14T>G SNV
Germline		 Chr13:32326485 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002918631RCV003585316
NM_000059.4(BRCA2):c.5956G>A (p.Val1986Ile) SNV
Germline		 Chr13:32340311 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002937209RCV003157299
NM_007294.4(BRCA1):c.3133A>G (p.Asn1045Asp) SNV
Germline		 Chr17:43092398 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002909946RCV003157303
NM_000059.4(BRCA2):c.6361G>T (p.Glu2121Ter) SNV
Germline		 Chr13:32340716 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002923299
NM_000059.4(BRCA2):c.4666A>G (p.Ile1556Val) SNV
Germline		 Chr13:32339021 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002952772RCV003157304
NM_007294.4(BRCA1):c.1645A>T (p.Thr549Ser) SNV
Germline		 Chr17:43093886 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002952785RCV003157305
NM_007294.4(BRCA1):c.3616G>A (p.Ala1206Thr) SNV
Germline		 Chr17:43091915 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002962872RCV003157844
NM_000059.4(BRCA2):c.2288A>G (p.His763Arg) SNV
Germline		 Chr13:32336643 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002942908RCV003157835
NM_007294.4(BRCA1):c.2988A>T (p.Lys996Asn) SNV
Germline		 Chr17:43092543 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002952875RCV003157836
NM_007294.4(BRCA1):c.1562C>T (p.Ala521Val) SNV
Germline		 Chr17:43093969 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002954406RCV003157841RCV003483902
NM_000059.4(BRCA2):c.6299A>G (p.Gln2100Arg) SNV
Germline		 Chr13:32340654 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002962461RCV003157843
NM_000059.4(BRCA2):c.5486T>A (p.Leu1829Ter) SNV
Germline		 Chr13:32339841 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002962515
NM_000059.4(BRCA2):c.4142A>G (p.Lys1381Arg) SNV
Germline		 Chr13:32338497 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002963217RCV003157845
NM_007294.4(BRCA1):c.2510T>A (p.Val837Asp) SNV
Germline		 Chr17:43093021 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002982372RCV003157846
NM_007294.4(BRCA1):c.2603C>T (p.Ser868Leu) SNV
Germline		 Chr17:43092928 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002942629RCV003157306
NM_007294.4(BRCA1):c.2408G>A (p.Ser803Asn) SNV
Germline		 Chr17:43093123 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002928804RCV003157837
NM_007294.4(BRCA1):c.1459G>A (p.Val487Ile) SNV
Germline		 Chr17:43094072 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002953415RCV003157838
NM_007294.4(BRCA1):c.2804A>G (p.Lys935Arg) SNV
Germline		 Chr17:43092727 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002948879RCV003157839
NM_007294.4(BRCA1):c.1214C>T (p.Ser405Leu) SNV
Germline		 Chr17:43094317 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002966078RCV003157840
NM_007294.4(BRCA1):c.1665T>G (p.Asn555Lys) SNV
Germline		 Chr17:43093866 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002959217RCV003157842
NM_000059.4(BRCA2):c.1358C>T (p.Pro453Leu) SNV
Germline		 Chr13:32332836 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003009587RCV003157854
NM_000059.4(BRCA2):c.4186C>T (p.Gln1396Ter) SNV
Germline		 Chr13:32338541 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003017796
NM_000059.4(BRCA2):c.2650T>C (p.Ser884Pro) SNV
Germline		 Chr13:32337005 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003009569RCV003157853
NM_000059.4(BRCA2):c.3125T>G (p.Leu1042Ter) SNV
Germline		 Chr13:32337480 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002988609
NM_000059.4(BRCA2):c.6110A>G (p.Glu2037Gly) SNV
Germline		 Chr13:32340465 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002995539RCV003157847
NM_000059.4(BRCA2):c.6746C>G (p.Ala2249Gly) SNV
Germline		 Chr13:32341101 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003011397RCV003157850
NM_000059.4(BRCA2):c.3222T>A (p.Ser1074Arg) SNV
Germline		 Chr13:32337577 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002996060RCV003157851
NM_000059.4(BRCA2):c.5436A>C (p.Glu1812Asp) SNV
Germline		 Chr13:32339791 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003011488RCV003157852
NM_007294.4(BRCA1):c.2132A>C (p.Lys711Thr) SNV
Germline		 Chr17:43093399 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002999481RCV003157848
NM_000059.4(BRCA2):c.1252T>G (p.Ser418Ala) SNV
Germline		 Chr13:32332730 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002994797RCV003157849
NM_000059.4(BRCA2):c.823A>G (p.Lys275Glu) SNV
Germline		 Chr13:32332301 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003005555RCV003157860
NM_007294.4(BRCA1):c.1019T>C (p.Val340Ala) SNV
Germline		 Chr17:43094512 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003007924RCV003157861RCV004007766
NM_000059.4(BRCA2):c.1519A>T (p.Arg507Ter) SNV
Germline		 Chr13:32332997 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002996619
NM_000059.4(BRCA2):c.3316A>G (p.Ser1106Gly) SNV
Germline		 Chr13:32337671 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003008325RCV003157864
NM_007294.4(BRCA1):c.3299G>C (p.Gly1100Ala) SNV
Germline		 Chr17:43092232 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003019106RCV003157868
NM_007294.4(BRCA1):c.1287A>G (p.Ile429Met) SNV
Germline		 Chr17:43094244 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003016888RCV003157873
NM_000059.4(BRCA2):c.2647T>C (p.Phe883Leu) SNV
Germline		 Chr13:32337002 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003018258RCV003157857
NM_007294.4(BRCA1):c.1684A>C (p.Ile562Leu) SNV
Germline		 Chr17:43093847 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003020397RCV003157858
NM_000059.4(BRCA2):c.5032A>G (p.Lys1678Glu) SNV
Germline		 Chr13:32339387 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003003088RCV003157859RCV004007761
NM_007294.4(BRCA1):c.1043G>T (p.Cys348Phe) SNV
Germline		 Chr17:43094488 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003018289RCV003157863
NM_000059.4(BRCA2):c.2279T>C (p.Leu760Ser) SNV
Germline		 Chr13:32336634 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003021223RCV003157865
NM_000059.4(BRCA2):c.4811T>C (p.Leu1604Pro) SNV
Germline		 Chr13:32339166 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003018996RCV003157867
NM_007294.4(BRCA1):c.2081G>C (p.Ser694Thr) SNV
Germline		 Chr17:43093450 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003022928RCV003157871
NM_000059.4(BRCA2):c.6248T>C (p.Phe2083Ser) SNV
Germline		 Chr13:32340603 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003002900RCV003157856RCV004007759
NM_000059.4(BRCA2):c.3115C>T (p.Pro1039Ser) SNV
Germline		 Chr13:32337470 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003031114RCV003157870
NM_000059.4(BRCA2):c.92G>C (p.Trp31Ser) SNV
Germline		 Chr13:32319101 Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003031127RCV003138442
NM_000059.4(BRCA2):c.5443A>G (p.Thr1815Ala) SNV
Germline		 Chr13:32339798 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003014404RCV003157872
NM_007294.4(BRCA1):c.3296C>G (p.Pro1099Arg) SNV
Germline		 Chr17:43092235 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003009807RCV003157855
NM_000059.4(BRCA2):c.4103T>C (p.Leu1368Ser) SNV
Germline		 Chr13:32338458 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003015742RCV003157862
NM_000059.4(BRCA2):c.4561C>A (p.Leu1521Ile) SNV
Germline		 Chr13:32338916 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003016399RCV003157866
NM_000059.4(BRCA2):c.5460C>A (p.Cys1820Ter) SNV
Germline		 Chr13:32339815 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003030848
NM_000059.4(BRCA2):c.6122C>T (p.Ser2041Phe) SNV
Germline		 Chr13:32340477 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003030855RCV003157869
NM_000059.4(BRCA2):c.5918A>T (p.Asn1973Ile) SNV
Germline		 Chr13:32340273 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003019860RCV003157875
NM_000059.4(BRCA2):c.1384G>C (p.Glu462Gln) SNV
Germline		 Chr13:32332862 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003041843RCV003157877
NM_000059.4(BRCA2):c.5473G>A (p.Ala1825Thr) SNV
Germline		 Chr13:32339828 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003014850RCV003157878
NM_000059.4(BRCA2):c.1379A>T (p.Asn460Ile) SNV
Germline		 Chr13:32332857 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003015176RCV003157881
NM_000059.4(BRCA2):c.2237T>C (p.Val746Ala) SNV
Germline		 Chr13:32336592 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003029473RCV003157883
NM_000059.4(BRCA2):c.4554A>C (p.Glu1518Asp) SNV
Germline		 Chr13:32338909 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003017649RCV003157884
NM_000059.4(BRCA2):c.1591A>T (p.Lys531Ter) SNV
Germline		 Chr13:32333069 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003017650
NM_007294.4(BRCA1):c.2212G>C (p.Val738Leu) SNV
Germline		 Chr17:43093319 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003029501RCV003157885
NM_007294.4(BRCA1):c.2006T>A (p.Met669Lys) SNV
Germline		 Chr17:43093525 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003029502RCV003157886
NM_000059.4(BRCA2):c.5799C>G (p.Asn1933Lys) SNV
Germline		 Chr13:32340154 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003034228RCV003157887
NM_000059.4(BRCA2):c.4729G>A (p.Glu1577Lys) SNV
Germline		 Chr13:32339084 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003042266RCV003157892
NM_000059.4(BRCA2):c.6067G>A (p.Asp2023Asn) SNV
Germline		 Chr13:32340422 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003024028RCV003157897
NM_000059.4(BRCA2):c.5607T>A (p.Ser1869Arg) SNV
Germline		 Chr13:32339962 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003034338RCV003157898
NM_000059.4(BRCA2):c.4940C>G (p.Thr1647Arg) SNV
Germline		 Chr13:32339295 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003034357RCV003157899
NM_000059.4(BRCA2):c.2920G>C (p.Asp974His) SNV
Germline		 Chr13:32337275 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003032652RCV003157905
NM_000059.4(BRCA2):c.6350G>A (p.Cys2117Tyr) SNV
Germline		 Chr13:32340705 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003046484RCV003157906
NM_007294.4(BRCA1):c.3151A>C (p.Thr1051Pro) SNV
Germline		 Chr17:43092380 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003022661RCV003157896
NM_007294.4(BRCA1):c.4040G>T (p.Arg1347Ile) SNV
Germline		 Chr17:43091491 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003038641RCV003157901
NM_000059.4(BRCA2):c.4916T>C (p.Val1639Ala) SNV
Germline		 Chr13:32339271 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003027191RCV003157902
NM_007294.4(BRCA1):c.2924A>G (p.Gln975Arg) SNV
Germline		 Chr17:43092607 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003027238RCV003157903
NM_000059.4(BRCA2):c.2680G>T (p.Val894Leu) SNV
Germline		 Chr13:32337035 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003042012RCV003157880
NM_000059.4(BRCA2):c.4092A>G (p.Ile1364Met) SNV
Germline		 Chr13:32338447 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003029227RCV003157882
NM_000059.4(BRCA2):c.2597A>G (p.Glu866Gly) SNV
Germline		 Chr13:32336952 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003020009RCV003157891
NM_007294.4(BRCA1):c.4004T>A (p.Leu1335Gln) SNV
Germline		 Chr17:43091527 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003045788RCV003157895
NM_000059.4(BRCA2):c.4573C>T (p.His1525Tyr) SNV
Germline		 Chr13:32338928 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003026985RCV003157900
NM_000059.4(BRCA2):c.4496C>G (p.Thr1499Ser) SNV
Germline		 Chr13:32338851 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003030108RCV003157904
NM_000059.4(BRCA2):c.6440A>G (p.His2147Arg) SNV
Germline		 Chr13:32340795 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003017061RCV003157874
NM_007294.4(BRCA1):c.1619A>G (p.Glu540Gly) SNV
Germline		 Chr17:43093912 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003037938RCV003157876
NM_007294.4(BRCA1):c.2975C>T (p.Thr992Ile) SNV
Germline		 Chr17:43092556 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003041976RCV003157879
NM_000059.4(BRCA2):c.3992C>G (p.Ser1331Cys) SNV
Germline		 Chr13:32338347 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003038107RCV003157888
NM_007294.4(BRCA1):c.1300A>T (p.Ser434Cys) SNV
Germline		 Chr17:43094231 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003031744RCV003157889
NM_007294.4(BRCA1):c.2409T>A (p.Ser803Arg) SNV
Germline		 Chr17:43093122 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003038144RCV003157890
NM_000059.4(BRCA2):c.5698T>C (p.Ser1900Pro) SNV
Germline		 Chr13:32340053 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003020302RCV003157893
NM_007294.4(BRCA1):c.772C>T (p.Pro258Ser) SNV
Germline		 Chr17:43094759 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003020305RCV003157894
NM_000059.4(BRCA2):c.4247A>G (p.Gln1416Arg) SNV
Germline		 Chr13:32338602 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003025199RCV003157916
NM_000059.4(BRCA2):c.4031A>G (p.Asn1344Ser) SNV
Germline		 Chr13:32338386 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV003046823RCV003151436RCV003157919
NM_000059.4(BRCA2):c.2297C>T (p.Ala766Val) SNV
Germline		 Chr13:32336652 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003035702RCV003157921
NM_000059.4(BRCA2):c.1313A>G (p.Asp438Gly) SNV
Germline		 Chr13:32332791 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003040288RCV003157935RCV003477038
NM_007294.4(BRCA1):c.1119A>G (p.Ile373Met) SNV
Germline		 Chr17:43094412 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV003030394RCV003157908RCV003607559
NM_000059.4(BRCA2):c.3662C>G (p.Ser1221Cys) SNV
Germline		 Chr13:32338017 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003030411RCV003157909
NM_007294.4(BRCA1):c.863G>A (p.Ser288Asn) SNV
Germline		 Chr17:43094668 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003030454RCV003157910
NM_000059.4(BRCA2):c.2816C>T (p.Thr939Ile) SNV
Germline		 Chr13:32337171 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003039536RCV003157911
NM_000059.4(BRCA2):c.5846A>C (p.Asp1949Ala) SNV
Germline		 Chr13:32340201 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003024944RCV003157914
NM_000059.4(BRCA2):c.5235G>A (p.Met1745Ile) SNV
Germline		 Chr13:32339590 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003059276RCV003157915
NM_000059.4(BRCA2):c.8660C>A (p.Ser2887Ter) SNV
Germline		 Chr13:32376697 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003043348
NM_007294.4(BRCA1):c.1117A>C (p.Ile373Leu) SNV
Germline		 Chr17:43094414 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003035349RCV003157920
NM_000059.4(BRCA2):c.5420A>T (p.Asp1807Val) SNV
Germline		 Chr13:32339775 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003049462RCV003157924
NM_000059.4(BRCA2):c.6608T>A (p.Val2203Asp) SNV
Germline		 Chr13:32340963 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003040056RCV003157925
NM_000059.4(BRCA2):c.3982A>G (p.Ser1328Gly) SNV
Germline		 Chr13:32338337 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003040065RCV003157926
NM_000059.4(BRCA2):c.2537C>T (p.Ser846Leu) SNV
Germline		 Chr13:32336892 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003049538RCV003157927
NM_000059.4(BRCA2):c.1744A>T (p.Thr582Ser) SNV
Germline		 Chr13:32333222 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003049540RCV003157928
NM_007294.4(BRCA1):c.814G>A (p.Glu272Lys) SNV
Germline		 Chr17:43094717 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003057755RCV003157934
NM_000059.4(BRCA2):c.964A>G (p.Lys322Glu) SNV
Germline		 Chr13:32332442 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003027863RCV003157907
NM_000059.4(BRCA2):c.6658G>A (p.Glu2220Lys) SNV
Germline		 Chr13:32341013 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003054782RCV003157913
NM_007294.4(BRCA1):c.3763A>G (p.Asn1255Asp) SNV
Germline		 Chr17:43091768 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003027937RCV003157917
NM_000059.4(BRCA2):c.3847G>C (p.Val1283Leu) SNV
Germline		 Chr13:32338202 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003049072RCV003157918
NM_007294.4(BRCA1):c.3731A>T (p.His1244Leu) SNV
Germline		 Chr17:43091800 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003036252RCV003157932
NM_007294.4(BRCA1):c.2239C>A (p.Pro747Thr) SNV
Germline		 Chr17:43093292 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003036253RCV003157933
NM_000059.4(BRCA2):c.6241G>C (p.Glu2081Gln) SNV
Germline		 Chr13:32340596 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003054557RCV003157912
NM_007294.4(BRCA1):c.2053A>G (p.Asn685Asp) SNV
Germline		 Chr17:43093478 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003039642RCV003157922
NM_000059.4(BRCA2):c.6312A>C (p.Lys2104Asn) SNV
Germline		 Chr13:32340667 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003039663RCV003157923
NM_000059.4(BRCA2):c.6438T>A (p.Asn2146Lys) SNV
Germline		 Chr13:32340793 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003043975RCV003157930
NM_007294.4(BRCA1):c.973A>G (p.Lys325Glu) SNV
Germline		 Chr17:43094558 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003051532RCV003157931
NM_007294.4(BRCA1):c.745A>G (p.Thr249Ala) SNV
Germline		 Chr17:43094786 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003061827RCV003157940
NM_007294.4(BRCA1):c.1616C>G (p.Thr539Arg) SNV
Germline		 Chr17:43093915 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003036771RCV003157949
NM_000059.4(BRCA2):c.1118A>G (p.Gln373Arg) SNV
Germline		 Chr13:32332596 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003044887RCV003157953
NM_000059.4(BRCA2):c.5815T>A (p.Leu1939Met) SNV
Germline		 Chr13:32340170 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003065855RCV003157954
NM_000059.4(BRCA2):c.6373A>T (p.Thr2125Ser) SNV
Germline		 Chr13:32340728 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003048784RCV003157957
NM_007294.4(BRCA1):c.2866T>C (p.Ser956Pro) SNV
Germline		 Chr17:43092665 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003044589RCV003157939
NM_000059.4(BRCA2):c.6244G>A (p.Glu2082Lys) SNV
Germline		 Chr13:32340599 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003052566RCV003157947
NM_000059.4(BRCA2):c.2627A>T (p.Asn876Ile) SNV
Germline		 Chr13:32336982 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003036501RCV003157948
NM_000059.4(BRCA2):c.8331+1G>C SNV
Germline		 Chr13:32363534 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003041047
NM_007294.4(BRCA1):c.2655C>A (p.Phe885Leu) SNV
Germline		 Chr17:43092876 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003064166RCV003157952
NM_007294.4(BRCA1):c.5498T>G (p.Val1833Gly) SNV
Germline		 Chr17:43045772 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003059713
NM_000059.4(BRCA2):c.4384T>A (p.Leu1462Ile) SNV
Germline		 Chr13:32338739 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003050214RCV003157937
NM_000059.4(BRCA2):c.7868A>C (p.His2623Pro) SNV
Germline		 Chr13:32362585 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003044395
NM_000059.4(BRCA2):c.3837T>G (p.Asn1279Lys) SNV
Germline		 Chr13:32338192 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003050356RCV003157938
NM_007294.4(BRCA1):c.1357G>T (p.Glu453Ter) SNV
Germline		 Chr17:43094174 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003061975
NM_000059.4(BRCA2):c.1130A>C (p.Glu377Ala) SNV
Germline		 Chr13:32332608 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003052481RCV003157942
NM_007294.4(BRCA1):c.916A>G (p.Asn306Asp) SNV
Germline		 Chr17:43094615 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003048285RCV003157943
NM_000059.4(BRCA2):c.3440A>T (p.Asn1147Ile) SNV
Germline		 Chr13:32337795 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003052500RCV003157944
NM_007294.4(BRCA1):c.2456C>T (p.Ser819Phe) SNV
Germline		 Chr17:43093075 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003062056RCV003157945
NM_007294.4(BRCA1):c.2939T>C (p.Ile980Thr) SNV
Germline		 Chr17:43092592 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003052558RCV003157946
NM_000059.4(BRCA2):c.983C>G (p.Thr328Ser) SNV
Germline		 Chr13:32332461 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003040877RCV003157951
NM_007294.4(BRCA1):c.3184G>T (p.Gly1062Cys) SNV
Germline		 Chr17:43092347 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003050061RCV003157936
NM_007294.4(BRCA1):c.3701T>G (p.Val1234Gly) SNV
Germline		 Chr17:43091830 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003061939RCV003157941
NM_000059.4(BRCA2):c.6820G>C (p.Gly2274Arg) SNV
Germline		 Chr13:32341175 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003040812RCV003157950
NM_000059.4(BRCA2):c.2078G>T (p.Cys693Phe) SNV
Germline		 Chr13:32336433 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003045056RCV003157955
NM_007294.4(BRCA1):c.905C>A (p.Ala302Asp) SNV
Germline		 Chr17:43094626 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003058189RCV003157956
NM_000059.4(BRCA2):c.7171G>T (p.Glu2391Ter) SNV
Germline		 Chr13:32355024 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003123490
NM_000059.4(BRCA2):c.9545A>C (p.His3182Pro) SNV
Germline		 Chr13:32396941 Conflicting classifications of pathogenicity Ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003154730RCV003530281RCV004246185
NM_000059.4(BRCA2):c.6591T>G (p.Thr2197=) SNV
Germline		 Chr13:32340946 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003293405RCV003477076RCV003645346
NM_007294.4(BRCA1):c.2963C>G (p.Ser988Ter) SNV
Germline		 Chr17:43092568 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003301825RCV003645344
NM_007294.4(BRCA1):c.5497G>T (p.Val1833Leu) SNV
Germline		 Chr17:43045773 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003288413RCV003530293RCV003738422
NM_024675.4(PALB2):c.874C>T (p.Gln292Ter) SNV
Germline		 Chr16:23635672 Pathogenic Hereditary breast ovarian cancer syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003317953RCV003455798
NM_000059.4(BRCA2):c.2050C>T (p.Gln684Ter) SNV
Germline		 Chr13:32336405 Pathogenic/Likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003340830RCV003645355
NM_000059.4(BRCA2):c.10048C>T (p.Gln3350Ter) SNV
Germline		 Chr13:32398561 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
BRCA2-related disorder		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003530315RCV004534412
NM_007194.4(CHEK2):c.424A>T (p.Lys142Ter) SNV
Germline		 Chr22:28725263 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003404997
NM_000059.4(BRCA2):c.4519C>T (p.Gln1507Ter) SNV
Germline		 Chr13:32338874 Pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003477120RCV003645371
NM_007194.4(CHEK2):c.346G>A (p.Gly116Arg) SNV
Germline		 Chr22:28725341 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003484422
NM_024675.4(PALB2):c.3327T>A (p.Cys1109Ter) SNV
Germline		 Chr16:23607887 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003484243
NM_000059.4(BRCA2):c.9649-6T>A SNV
Germline		 Chr13:32398156 Conflicting classifications of pathogenicity not specified
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003494126RCV003645375
NM_000059.4(BRCA2):c.9766G>T (p.Glu3256Ter) SNV
Germline		 Chr13:32398279 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003530452
NM_000059.4(BRCA2):c.3125T>A (p.Leu1042Ter) SNV
Germline		 Chr13:32337480 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003530328
NM_000059.4(BRCA2):c.5176G>T (p.Glu1726Ter) SNV
Germline		 Chr13:32339531 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003530375
NM_007294.4(BRCA1):c.2951T>C (p.Phe984Ser) SNV
Germline		 Chr17:43092580 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003530405RCV004366466
NM_000059.4(BRCA2):c.4565T>A (p.Leu1522Ter) SNV
Germline		 Chr13:32338920 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003530434
NM_000059.4(BRCA2):c.1271C>A (p.Ser424Ter) SNV
Germline		 Chr13:32332749 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003530964
NM_000059.4(BRCA2):c.1810A>T (p.Lys604Ter) SNV
Germline		 Chr13:32333288 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003531234
NM_000059.4(BRCA2):c.9118-6C>A SNV
Germline		 Chr13:32380001 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV003531195
NM_000059.4(BRCA2):c.7241C>A (p.Ser2414Ter) SNV
Germline		 Chr13:32355094 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003531343
NM_007294.4(BRCA1):c.2182A>T (p.Arg728Ter) SNV
Germline		 Chr17:43093349 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003645533
NM_000059.4(BRCA2):c.9250A>T (p.Lys3084Ter) SNV
Germline		 Chr13:32380139 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003645587
NM_000059.4(BRCA2):c.9343A>T (p.Lys3115Ter) SNV
Germline		 Chr13:32394775 Pathogenic Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003645687RCV004011699
NM_000059.4(BRCA2):c.6666C>G (p.Tyr2222Ter) SNV
Germline		 Chr13:32341021 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003645682
NM_000059.4(BRCA2):c.1640C>G (p.Ser547Ter) SNV
Germline		 Chr13:32333118 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003645672
NM_007294.4(BRCA1):c.2312T>A (p.Leu771Ter) SNV
Germline		 Chr17:43093219 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003645711
NM_000059.4(BRCA2):c.2840T>A (p.Leu947Ter) SNV
Germline		 Chr13:32337195 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003645850
NM_007294.4(BRCA1):c.1718C>G (p.Ser573Ter) SNV
Germline		 Chr17:43093813 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003644525
NM_000059.4(BRCA2):c.316+5G>T SNV
Germline		 Chr13:32319330 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003645798
NM_000059.4(BRCA2):c.964A>T (p.Lys322Ter) SNV
Germline		 Chr13:32332442 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003645811
NM_000059.4(BRCA2):c.8752G>T (p.Glu2918Ter) SNV
Germline		 Chr13:32376789 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003644554
NM_000059.4(BRCA2):c.7075A>T (p.Lys2359Ter) SNV
Germline		 Chr13:32354928 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003644616
NM_000059.4(BRCA2):c.5830A>T (p.Lys1944Ter) SNV
Germline		 Chr13:32340185 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003644628
NM_007294.4(BRCA1):c.3760A>T (p.Lys1254Ter) SNV
Germline		 Chr17:43091771 Pathogenic Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003644769RCV004373963
NM_000059.4(BRCA2):c.4774A>G (p.Lys1592Glu) SNV
Germline		 Chr13:32339129 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003644784RCV004374085
NM_000059.4(BRCA2):c.426-15T>G SNV
Germline		 Chr13:32326086 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003644793RCV004005847
NM_000059.4(BRCA2):c.6645C>A (p.Tyr2215Ter) SNV
Germline		 Chr13:32341000 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003644842
NM_007294.4(BRCA1):c.3013G>T (p.Glu1005Ter) SNV
Germline		 Chr17:43092518 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003842874
NM_000059.4(BRCA2):c.2260C>T (p.Gln754Ter) SNV
Germline		 Chr13:32336615 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003855740
NM_007294.4(BRCA1):c.664A>T (p.Lys222Ter) SNV
Germline		 Chr17:43095852 Conflicting classifications of pathogenicity Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004012130RCV004018019
NM_000059.4(BRCA2):c.9278T>A (p.Leu3093Ter) SNV
Germline		 Chr13:32394710 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004018109
NM_007294.4(BRCA1):c.2626G>T (p.Gly876Ter) SNV
Germline		 Chr17:43092905 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004018112
NM_000059.4(BRCA2):c.8833C>T (p.Gln2945Ter) SNV
Germline		 Chr13:32379395 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004018177
NM_033109.5(PNPT1):c.1002T>G (p.Tyr334Ter) SNV
Germline		 Chr2:55667933 Pathogenic Hereditary breast ovarian cancer syndrome
PNPT1-related disorder		 Criteria Provided
Single Submitter

1 SubmittersRCV004527162RCV004579635