Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln)	SNV Germline	Chr15:89315319	Conflicting classifications of pathogenicity	Fanconi anemia complementation group I Fanconi anemia	Criteria Provided Conflicting Classifications	CA251642	rs_121918163	4 SubmittersRCV000001023 RCV005089139
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)	SNV Germline	Chr16:23634893	Pathogenic/Likely pathogenic	Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA251717	rs_118203997	13 SubmittersRCV000001302 RCV000217204 RCV000235772 RCV000476387 RCV005053882
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	SNV Germline	Chr16:23603471	Pathogenic/Likely pathogenic	Fanconi anemia complementation group N Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Condition: not provided Pancreatic cancer, susceptibility to, 3 PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Inherited breast cancer and ovarian cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA151250	rs_118203998	25 SubmittersRCV000001304 RCV000114634 RCV000121742 RCV000129158 RCV000212830 RCV001355428 RCV004528063 RCV005053883 RCV005430457 RCV005623061
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)	SNV Germline	Chr16:23623003	Pathogenic	Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA164468	rs_118203999	9 SubmittersRCV000001306 RCV000129469 RCV000662710 RCV000657596 RCV005053884
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter)	SNV Germline	Chr16:89810716	Pathogenic	Fanconi anemia complementation group A	No Assertion Criteria Provided	CA252781	rs_121907930	1 SubmittersRCV000003616
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)	SNV Germline	Chr17:61859862	Conflicting classifications of pathogenicity	Breast cancer, early-onset Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Fanconi anemia complementation group J Fanconi anemia complementation group J Condition: not provided BRIP1-related disorder Familial cancer of breast Malignant tumor of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA117038	rs_28903098	31 SubmittersRCV000005002 RCV000116124 RCV000200979 RCV000199377 RCV000409748 RCV000587908 RCV000778130 RCV000990044 RCV001090025 RCV003149563 RCV005089172 RCV005430106
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	SNV Germline	Chr17:61716051	Pathogenic	Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Fanconi anemia Esophageal atresia/tracheoesophageal fistula Familial cancer of breast Fanconi anemia complementation group J Breast cancer, early-onset BRIP1-related disorder Familial cancer of breast BRIP1-related disorder Fanconi anemia complementation group J Malignant tumor of breast Breast and/or ovarian cancer Ovarian cancer Gastric cancer Breast-ovarian cancer, familial, susceptibility to, 1 Inherited ovarian cancer (without breast cancer)	Criteria Provided Multiple Submitters No Conflicts	CA253268	rs_137852986	43 SubmittersRCV000005004 RCV000116139 RCV000212324 RCV000205436 RCV000312325 RCV000515368 RCV000504276 RCV000778127 RCV000989994 RCV001535465 RCV001355458 RCV003149564 RCV003155909 RCV003162209 RCV005246591 RCV005252666
NM_022725.4(FANCF):c.16C>T (p.Gln6Ter)	SNV Germline	Chr11:22625795	Pathogenic	Fanconi anemia complementation group F	No Assertion Criteria Provided	CA253844	rs_104894221	2 SubmittersRCV000006714
NM_022725.4(FANCF):c.327C>G (p.Tyr109Ter)	SNV Germline	Chr11:22625484	Pathogenic	Fanconi anemia complementation group F	No Assertion Criteria Provided	CA253847	rs_104894222	2 SubmittersRCV000006716
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter)	SNV Germline	Chr9:35078338	Pathogenic	Fanconi anemia complementation group G Fanconi anemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253925	rs_121434425	9 SubmittersRCV000007104 RCV000706520 RCV001091823
NM_004629.2(FANCG):c.307+1G>C	SNV Germline	Chr9:35078604	Pathogenic	Fanconi anemia complementation group G Fanconi anemia	Criteria Provided Multiple Submitters No Conflicts	CA340604	rs_200479612	8 SubmittersRCV000007106 RCV001037690
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter)	SNV Germline	Chr9:35076442	Pathogenic	Fanconi anemia complementation group G Fanconi anemia	Criteria Provided Multiple Submitters No Conflicts	CA253928	rs_121434426	5 SubmittersRCV000007107 RCV000791560
NM_004629.2(FANCG):c.925-2A>G	SNV Germline	Chr9:35076585	Pathogenic	Fanconi anemia complementation group G	No Assertion Criteria Provided	CA340605	rs_397507561	2 SubmittersRCV000007108
NM_004629.2(FANCG):c.1480+1G>C	SNV Germline	Chr9:35075278	Pathogenic	Fanconi anemia complementation group G Fanconi anemia FANCG-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340606	rs_149616199	11 SubmittersRCV000007109 RCV000630837 RCV004748504 RCV001564939
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)	SNV Germline	Chr17:58709926	Conflicting classifications of pathogenicity	Fanconi anemia complementation group O Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3 Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA168628	rs_267606997	16 SubmittersRCV000007224 RCV000131703 RCV000506412 RCV003315500 RCV001194260 RCV005394130 RCV005600615
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 SubmittersRCV000007226 RCV001195016 RCV001797586 RCV003507247
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)	SNV Germline	Chr17:58696702	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 3 Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Condition: not provided Familial ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA118528	rs_267606999	13 SubmittersRCV000007227 RCV000129800 RCV000648269 RCV000662981 RCV001195017 RCV005600616
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter)	SNV Germline	Chr6:35455853	Pathogenic	Fanconi anemia complementation group E	Criteria Provided Multiple Submitters No Conflicts	CA254528	rs_121434505	5 SubmittersRCV000009247
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)	SNV Germline	Chr6:35455919	Pathogenic/Likely pathogenic	Fanconi anemia complementation group E	Criteria Provided Multiple Submitters No Conflicts	CA254531	rs_121434506	7 SubmittersRCV000009248
NM_021922.3(FANCE):c.1114-8G>A	SNV Germline	Chr6:35459323	Pathogenic/Likely pathogenic	Fanconi anemia complementation group E Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10575503	rs_878854342	6 SubmittersRCV000009249 RCV003884334
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 SubmittersRCV000009934 RCV000113889 RCV000236578 RCV001380789
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 SubmittersRCV000009935 RCV000044460 RCV000113326 RCV000571951 RCV001530923 RCV003473074
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 breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA025134	rs_80358979	11 SubmittersRCV000009936 RCV000113772 RCV000478444 RCV001290186 RCV000509658
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 Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast Familial cancer of breast BRCA2-related cancer predisposition Cancer or benign tumor	Reviewed By Expert Panel	CA026028	rs_80359180	24 SubmittersRCV000009941 RCV000077463 RCV000131052 RCV000210196 RCV000257912 RCV000235644 RCV001357808 RCV003460449 RCV004802932 RCV005624682
NM_000059.4(BRCA2):c.631+1G>A	SNV Germline	Chr13:32326614	Pathogenic	Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA023848	rs_81002897	11 SubmittersRCV000009942 RCV000044895 RCV000131851 RCV000113913 RCV000985563 RCV001310166
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 breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Fanconi anemia Malignant tumor of breast Familial cancer of breast BRCA2-related cancer predisposition	Reviewed By Expert Panel	CA023852	rs_81002899	24 SubmittersRCV000009943 RCV000031615 RCV000044897 RCV000195357 RCV000129071 RCV000769680 RCV000826135 RCV001353557 RCV003147279 RCV004802933
NM_001018113.3(FANCB):c.1496+5G>A	SNV Germline	ChrX:14850500	Pathogenic	Fanconi anemia complementation group B	No Assertion Criteria Provided	CA913191136	rs_1569085810	2 SubmittersRCV000011617
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)	SNV Germline	Chr3:10090315	Pathogenic/Likely pathogenic	Fanconi anemia complementation group D2 Inborn genetic diseases Fanconi anemia	Criteria Provided Multiple Submitters No Conflicts	CA256193	rs_121917786	6 SubmittersRCV000012818 RCV001265744 RCV002512995
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)	SNV Germline	Chr3:10043065	Pathogenic/Likely pathogenic	Fanconi anemia Fanconi anemia complementation group D2	Criteria Provided Multiple Submitters No Conflicts	CA256197	rs_121917787	7 SubmittersRCV000809924 RCV000012820
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter)	SNV Germline	Chr3:10043119	Pathogenic	Fanconi anemia complementation group D2 Fanconi anemia	Criteria Provided Multiple Submitters No Conflicts	CA256201	rs_121917788	4 SubmittersRCV000012821 RCV003522920
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	SNV Germline	Chr9:95101723	Pathogenic/Likely pathogenic	Fanconi anemia complementation group C Condition: not provided Fanconi anemia Hereditary cancer-predisposing syndrome FANCC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA284829	rs_104886458	16 SubmittersRCV000012823 RCV000058925 RCV001221431 RCV002399319 RCV003421917
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)	SNV Germline	Chr9:95150056	Pathogenic	Fanconi anemia complementation group C Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia Malignant tumor of breast FANCC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA287223	rs_121917783	13 SubmittersRCV000012824 RCV000115356 RCV000568180 RCV000471314 RCV001356657 RCV004748517
NM_000136.3(FANCC):c.456+4A>T	SNV Germline	Chr9:95172033	Pathogenic	Fanconi anemia complementation group C Condition: not provided Fanconi anemia Hereditary cancer-predisposing syndrome Malignant tumor of breast FANCC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA287219	rs_104886456	23 SubmittersRCV000012825 RCV000115354 RCV000197192 RCV000562912 RCV001358012 RCV004748518
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)	SNV Germline	Chr9:95249255	Pathogenic	Fanconi anemia complementation group C Condition: not provided Fanconi anemia Hereditary cancer-predisposing syndrome FANCC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA287210	rs_121917784	13 SubmittersRCV000012826 RCV000115351 RCV000476519 RCV001021181 RCV004748519
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	SNV Germline	Chr9:95101742	Pathogenic/Likely pathogenic	Fanconi anemia complementation group C Condition: not provided Fanconi anemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA284826	rs_104886457	20 SubmittersRCV000012827 RCV000058924 RCV000205197 RCV000572840
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg)	SNV Germline	Chr9:95107112	Pathogenic	Fanconi anemia complementation group C	No Assertion Criteria Provided	CA256207	rs_121917785	1 SubmittersRCV000012830
NM_000136.3(FANCC):c.165+1G>T	SNV Germline	Chr9:95249126	Pathogenic	Fanconi anemia complementation group C Fanconi anemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA256210	rs_794726668	9 SubmittersRCV000012831 RCV001221363 RCV001588811
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	SNV Germline	Chr16:13947991	Conflicting classifications of pathogenicity	Xeroderma pigmentosum, group F not specified Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome XFE progeroid syndrome Condition: not provided Breast carcinoma Hutchinson-Gilford syndrome Carcinoma of pancreas Fanconi anemia complementation group Q ERCC4-related disorder Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum, group F Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA126686	rs_121913049	24 SubmittersRCV000018048 RCV000120808 RCV000467658 RCV000766208 RCV000415873 RCV001262417 RCV001034542 RCV001391196 RCV001787804 RCV003924841 RCV000768209 RCV002257360
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 Breast carcinoma Familial cancer of breast Breast neoplasm Ovarian neoplasm Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Breast and/or ovarian cancer BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA001182	rs_28897672	61 SubmittersRCV000019229 RCV000047597 RCV000159935 RCV000131902 RCV000415051 RCV000239114 RCV000412714 RCV000785199 RCV005003390 RCV001270967 RCV004802937
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 Breast neoplasm Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast and/or ovarian cancer Ovarian cancer Ovarian neoplasm Inherited breast cancer and ovarian cancer Gastric cancer Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Ovarian carcinoma Malignant tumor of urinary bladder BRCA1-related disorder BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA002305	rs_62625308	48 SubmittersRCV000019240 RCV000048251 RCV000148389 RCV000131818 RCV000239343 RCV000159978 RCV000735444 RCV000677815 RCV000785373 RCV004808551 RCV003162256 RCV005016279 RCV001642230 RCV003332084 RCV004554605 RCV004802939
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)	SNV Germline	Chr17:43082434	Pathogenic	Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome not specified BRCA1-related disorder Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Malignant tumor of breast Inherited breast cancer and ovarian cancer BRCA1-related cancer predisposition Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast	Reviewed By Expert Panel	CA002769	rs_41293455	50 SubmittersRCV000048523 RCV000235131 RCV000159989 RCV000019244 RCV000735445 RCV000131880 RCV000239083 RCV005249992 RCV000763000 RCV001353404 RCV005252689 RCV004802942 RCV005357149
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 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast BRCA1-related disorder BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA001398	rs_80357382	35 SubmittersRCV000019263 RCV000047713 RCV000131899 RCV000195359 RCV000469732 RCV000508177 RCV000763009 RCV004758595 RCV004802945
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter)	SNV Germline	Chr7:152648842	Conflicting classifications of pathogenicity	Fanconi anemia complementation group U Hereditary cancer-predisposing syndrome Condition: not provided Short stature, microcephaly, and endocrine dysfunction	Criteria Provided Conflicting Classifications	CA128903	rs_143153871	9 SubmittersRCV000022966 RCV000210083 RCV000236424 RCV001261591
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)	SNV Germline	Chr17:61801348	Pathogenic/Likely pathogenic	Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J not specified Hereditary cancer-predisposing syndrome Diffuse intrinsic pontine glioma Condition: not provided Familial cancer of breast BRIP1-related disorder Familial ovarian cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA157735	rs_149364097	16 SubmittersRCV000023492 RCV000466014 RCV000120412 RCV000131544 RCV000761010 RCV000216316 RCV003335053 RCV004528133 RCV005600622 RCV002271374
NM_032444.4(SLX4):c.1163+2T>A	SNV Germline	Chr16:3600977	Pathogenic	Fanconi anemia complementation group P	No Assertion Criteria Provided	CA7866625	rs_773642409	2 SubmittersRCV000024017
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 RAD51C-related disorder Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA325658	rs_387907159	13 SubmittersRCV000024264 RCV000205139 RCV000219684 RCV000483994 RCV003149575 RCV004734529 RCV004576911
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter)	SNV Germline	ChrX:14844518	Pathogenic	Fanconi anemia complementation group B	No Assertion Criteria Provided	CA412438096	rs_1569083185	2 SubmittersRCV000030703
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 Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4	Criteria Provided Conflicting Classifications	CA000791	rs_397507184	9 SubmittersRCV000030979 RCV000130767 RCV000539447 RCV001293586 RCV002472941 RCV005016302
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 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA000895	rs_80358158	20 SubmittersRCV000030985 RCV000047435 RCV000131843 RCV000236913 RCV001358046 RCV002504838 RCV004566758
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 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA000948	rs_397507187	13 SubmittersRCV000030992 RCV000165869 RCV000236685 RCV000587317 RCV000526449 RCV005016303 RCV003149591
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)	SNV Germline	Chr17:43093844	Pathogenic	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer Breast carcinoma Ovarian neoplasm Familial cancer of breast Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Breast and/or ovarian cancer Ovarian neoplasm Endometrial carcinoma BRCA1-related disorder BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA001106	rs_80356898	52 SubmittersRCV000047559 RCV000031007 RCV000131897 RCV000159956 RCV000238721 RCV000415155 RCV000763006 RCV000786987 RCV000770747 RCV000785207 RCV003128130 RCV004554614 RCV004802954
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 BRCA1-related cancer predisposition not specified Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA001364	rs_28897680	13 SubmittersRCV000031024 RCV000047696 RCV000129968 RCV000587889 RCV004802958 RCV002281723 RCV005016304
NM_007294.4(BRCA1):c.212+1G>A	SNV Germline	Chr17:43106455	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 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA001405	rs_80358042	18 SubmittersRCV000031027 RCV000496861 RCV000505828 RCV000509688 RCV000735528 RCV001171413 RCV005357166
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 not specified Hereditary breast ovarian cancer syndrome BRCA1-related disorder Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA001413	rs_80357182	17 SubmittersRCV000031028 RCV000129531 RCV000314335 RCV001193139 RCV000709482 RCV004758602 RCV005357167
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 Familial cancer of breast Breast and/or ovarian cancer BRCA1-related cancer predisposition Inherited breast cancer and ovarian cancer BRCA1-related disorder Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Fanconi anemia, complementation group S	Criteria Provided Multiple Submitters No Conflicts	CA001424	rs_80358061	23 SubmittersRCV000031030 RCV000047725 RCV000074570 RCV000131898 RCV000469831 RCV000735531 RCV004802959 RCV005416026 RCV004758603 RCV005394181
NM_007294.4(BRCA1):c.213-12A>G	SNV Germline	Chr17:43104968	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome not specified Ovarian neoplasm BRCA1-related disorder Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Breast and/or ovarian cancer Familial cancer of breast	Reviewed By Expert Panel	CA001426	rs_80358163	31 SubmittersRCV000047726 RCV000131900 RCV000031031 RCV000167772 RCV000505888 RCV000785201 RCV004758604 RCV002504839 RCV001270969 RCV005246595
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 Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Fanconi anemia, complementation group S BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA001436	rs_80357233	18 SubmittersRCV000031032 RCV000047730 RCV000074571 RCV000162851 RCV002477031 RCV004802960
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 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	CA001689	rs_80357131	13 SubmittersRCV000031056 RCV000047880 RCV000223464 RCV000657621 RCV002496473
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 Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Familial cancer of breast	Criteria Provided Conflicting Classifications	CA002098	rs_397507213	11 SubmittersRCV000031098 RCV000164913 RCV000590619 RCV000559848 RCV005357171
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 Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA002361	rs_41293451	13 SubmittersRCV000031122 RCV000048282 RCV000131521 RCV000195391 RCV001281713 RCV004554626 RCV005357172
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 BRCA1-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA002499	rs_397507223	8 SubmittersRCV000031136 RCV000222822 RCV000688186 RCV004802976 RCV005016308
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)	SNV Germline	Chr17:43099876	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Breast neoplasm Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Hereditary breast ovarian cancer syndrome Malignant tumor of breast not specified BRCA1-related disorder	Criteria Provided Conflicting Classifications	CA002865	rs_397507233	15 SubmittersRCV000031175 RCV000219296 RCV000240737 RCV000479398 RCV000764128 RCV000458634 RCV001357250 RCV002267803 RCV004758612
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)	SNV Germline	Chr17:43076488	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Familial cancer of breast Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA002876	rs_80357389	27 SubmittersRCV000031179 RCV000131886 RCV000159992 RCV000238601 RCV000048576 RCV000770739 RCV000462940 RCV001171414 RCV005016310
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 Condition: not provided Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S 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 Multiple Submitters No Conflicts	CA003127	rs_80358086	26 SubmittersRCV000031201 RCV000048724 RCV000159997 RCV000131837 RCV000735559 RCV005016311 RCV005394183
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 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA003193	rs_80358053	18 SubmittersRCV000031210 RCV000048764 RCV000131833 RCV000481404 RCV001353952 RCV004795939
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 Breast and/or ovarian cancer Malignant tumor of breast Condition: not provided BRCA1-related cancer predisposition Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA003230	rs_397507241	11 SubmittersRCV000031216 RCV000129997 RCV000464859 RCV000735461 RCV001353519 RCV003318545 RCV004566763 RCV005016312
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 Breast and/or ovarian cancer Ovarian neoplasm Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Gastric cancer BRCA1-related cancer predisposition BRCA1-related disorder Fanconi anemia, complementation group S	Reviewed By Expert Panel	CA003235	rs_41293459	50 SubmittersRCV000031217 RCV000048790 RCV000131564 RCV000195350 RCV000735446 RCV000785422 RCV002250479 RCV002496477 RCV003162265 RCV004802991 RCV004554634 RCV005357178
NM_007294.4(BRCA1):c.5122G>A (p.Ala1708Thr)	SNV Germline	Chr17:43063904	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA003251	rs_397507243	5 SubmittersRCV000031220 RCV000223569 RCV000198404 RCV005357179
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)	SNV Germline	Chr17:43063903	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast Familial cancer of breast BRCA1-related disorder Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 BRCA1-related cancer predisposition	Criteria Provided Conflicting Classifications	CA003253	rs_28897696	24 SubmittersRCV000031221 RCV000048803 RCV000148393 RCV000131166 RCV000212194 RCV000589633 RCV001353479 RCV002250480 RCV004758614 RCV005016313 RCV004802992
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 Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA003357	rs_45553935	24 SubmittersRCV000031229 RCV000048857 RCV000131291 RCV000195366 RCV000585878 RCV005357181
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 Malignant tumor of breast Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA003419	rs_80358150	32 SubmittersRCV000031235 RCV000074601 RCV000131865 RCV000235135 RCV000507129 RCV000735562 RCV001353526 RCV001171438 RCV005016314 RCV005357182
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)	SNV Germline	Chr17:43047676	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 not specified Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia, complementation group S	Criteria Provided Multiple Submitters No Conflicts	CA003596	rs_1800751	16 SubmittersRCV000031251 RCV000496797 RCV000484398 RCV000574861 RCV001390965 RCV005357183
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)	SNV Germline	Chr17:43045761	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA003680	rs_80356959	21 SubmittersRCV000031260 RCV000236322 RCV000129546 RCV000779893 RCV005357184
NM_007294.4(BRCA1):c.593+9A>G	SNV Germline	Chr17:43097235	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-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Familial cancer of breast	Criteria Provided Conflicting Classifications	CA003751	rs_80358133	9 SubmittersRCV000031266 RCV000531917 RCV000580719 RCV000433193 RCV003736546 RCV005394185
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)	SNV Germline	Chr17:43094569	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Breast and/or ovarian cancer Familial cancer of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA003986	rs_80357292	21 SubmittersRCV000031293 RCV000159948 RCV000735517 RCV004760347 RCV000049204 RCV000162891 RCV000239176 RCV005016315
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 Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA004002	rs_397507259	8 SubmittersRCV000031294 RCV000165321 RCV001338193 RCV003321486 RCV005357187
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 Fanconi anemia complementation group D1 Condition: not provided not specified Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA012131	rs_56390402	17 SubmittersRCV000031322 RCV000131573 RCV001109419 RCV000679155 RCV001818198 RCV001082494
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 SubmittersRCV000031339 RCV000130469 RCV000168530 RCV001114847 RCV001082266 RCV001284556 RCV003607203
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)	SNV Germline	Chr13:32336595	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA014722	rs_397507283	13 SubmittersRCV000031359 RCV000657147 RCV001112185 RCV000204756 RCV000215823 RCV000487003
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 not specified Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Familial prostate cancer Ovarian cancer	Criteria Provided Conflicting Classifications	CA016775	rs_397507296	15 SubmittersRCV000031388 RCV000165120 RCV000781108 RCV000220429 RCV001111816 RCV000471898 RCV005357196 RCV003153311
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 Fanconi anemia complementation group D1 Breast and/or ovarian cancer Condition: not provided not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA020880	rs_80358705	16 SubmittersRCV000031508 RCV000044498 RCV001112023 RCV003492312 RCV001353552 RCV000074530 RCV000130783
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 Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified 8 conditions Ovarian neoplasm Fanconi anemia complementation group D1 Malignant tumor of breast Familial cancer of breast BRCA2-related cancer predisposition Inherited ovarian cancer (without breast cancer)	Reviewed By Expert Panel	CA021070	rs_80358721	29 SubmittersRCV000031517 RCV000044533 RCV000128925 RCV000194794 RCV000195354 RCV000496311 RCV000762918 RCV000785221 RCV001269282 RCV001353669 RCV003473182 RCV004803038 RCV004808557
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)	SNV Germline	Chr13:32326272	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Condition: not provided BRCA2-related disorder Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA021201	rs_80358730	17 SubmittersRCV000031522 RCV000074532 RCV000129126 RCV000044547 RCV001111540 RCV001281705 RCV004541040 RCV001798044
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 Malignant tumor of breast Breast and/or ovarian cancer Fanconi anemia complementation group D1 not specified Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA023684	rs_56191579	17 SubmittersRCV000031601 RCV000166682 RCV001353819 RCV000768600 RCV001330945 RCV004562221 RCV000586884 RCV001085159
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 Malignant tumor of breast Fanconi anemia complementation group D1 Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA023686	rs_56191579	16 SubmittersRCV000031602 RCV000044854 RCV000130525 RCV000421588 RCV000413633 RCV001086174 RCV001358172 RCV001112564 RCV003492315
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 SubmittersRCV000031634 RCV000044985 RCV000129413 RCV000589601 RCV001109884 RCV001081092 RCV003492317
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 BRCA2-related disorder Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA024713	rs_28897743	38 SubmittersRCV000009923 RCV000031659 RCV000045112 RCV000131031 RCV000174440 RCV000475925 RCV000735595 RCV002496486 RCV004732575 RCV005237444
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 not specified Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Familial prostate cancer Familial cancer of breast	Reviewed By Expert Panel	CA025372	rs_81002874	23 SubmittersRCV000031714 RCV000045368 RCV000507368 RCV000162588 RCV000486971 RCV003483442 RCV004566780 RCV005357214 RCV003473215
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 BRCA2-related cancer predisposition	Reviewed By Expert Panel	CA025677	rs_397507404	26 SubmittersRCV000009920 RCV000031747 RCV000160152 RCV000213906 RCV000231355 RCV000763329 RCV003473221 RCV003162283 RCV002221480 RCV004803081
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 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Breast and/or ovarian cancer BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025712	rs_11571747	37 SubmittersRCV000031751 RCV000034464 RCV000152885 RCV000131022 RCV000167825 RCV000371112 RCV000735613 RCV004803082
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 Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified Familial pancreatic carcinoma	Criteria Provided Conflicting Classifications	CA025983	rs_202155613	13 SubmittersRCV000031795 RCV000074559 RCV000223314 RCV000344086 RCV000289162 RCV002250496 RCV002271381 RCV005357224
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 8 conditions Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Breast carcinoma Breast-ovarian cancer, familial, susceptibility to, 1 Gastric cancer Familial cancer of breast BRCA2-related cancer predisposition Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA025994	rs_28897756	36 SubmittersRCV000031798 RCV000045725 RCV000074560 RCV000131039 RCV000515207 RCV000763330 RCV001171453 RCV001554310 RCV001310189 RCV003162286 RCV003473227 RCV004566785 RCV005624714
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 Hereditary breast ovarian cancer syndrome Malignant tumor of breast Fanconi anemia complementation group D1 Breast and/or ovarian cancer Condition: not provided BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA026214	rs_55939572	19 SubmittersRCV000031831 RCV000045855 RCV000162692 RCV001083417 RCV001357124 RCV001109312 RCV000735629 RCV000758980 RCV004803095
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 Malignant tumor of 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 SubmittersRCV000034454 RCV000113573 RCV000129753 RCV000195307 RCV000240685 RCV000677821 RCV000406166 RCV002250503 RCV001353658 RCV001818210 RCV004541066
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)	SNV Germline	Chr17:43067677	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 1 Breast and/or ovarian cancer Breast carcinoma Familial cancer of breast Hereditary breast ovarian cancer syndrome Malignant tumor of breast Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA003152	rs_80357087	22 SubmittersRCV000034757 RCV000130911 RCV000048736 RCV000112461 RCV000148380 RCV000414907 RCV001197438 RCV001079653 RCV001353726 RCV005357258
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 Fanconi anemia complementation group D1 Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA010336	rs_80358396	14 SubmittersRCV000043719 RCV000112875 RCV001111640 RCV000509731 RCV000759572 RCV001280581
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 not specified Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA011324	rs_80358418	12 SubmittersRCV000077253 RCV000129196 RCV004700317 RCV001284073 RCV001112107 RCV001394892
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 Hereditary breast ovarian cancer syndrome Malignant tumor of breast Fanconi anemia complementation group D1 Inherited breast cancer and ovarian cancer	Criteria Provided Conflicting Classifications	CA015810	rs_80358523	9 SubmittersRCV000113070 RCV000163028 RCV001339978 RCV001357214 RCV001109534 RCV004691733
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 Fanconi anemia complementation group D1 Ovarian neoplasm Malignant tumor of breast BRCA2-related cancer predisposition BRCA2-related disorder 8 conditions	Reviewed By Expert Panel	CA016531	rs_80358533	40 SubmittersRCV000044070 RCV000077287 RCV000131101 RCV000212222 RCV000496649 RCV001028039 RCV000785217 RCV001358552 RCV004803151 RCV004724777 RCV004795965
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 Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 not specified	Criteria Provided Conflicting Classifications	CA017285	rs_80358559	10 SubmittersRCV000044123 RCV000113138 RCV000129709 RCV000483875 RCV001535463 RCV000779942
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)	SNV Germline	Chr13:32325082	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Malignant tumor of breast Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified 8 conditions	Criteria Provided Conflicting Classifications	CA017610	rs_80358568	15 SubmittersRCV000077298 RCV000221445 RCV000166938 RCV000315720 RCV001356621 RCV001372390 RCV002250509 RCV002267810 RCV005007965
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 Fanconi anemia complementation group D1 Condition: not provided not specified BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA018880	rs_80358625	12 SubmittersRCV000044272 RCV000083101 RCV000132466 RCV001112374 RCV000985512 RCV002271387 RCV004803170
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 Condition: not provided Fanconi anemia complementation group D1 not specified Ovarian cancer	Criteria Provided Conflicting Classifications	CA020333	rs_80358684	18 SubmittersRCV000044428 RCV000113312 RCV000130950 RCV000755874 RCV001113729 RCV003230379 RCV003153336
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 Breast and/or ovarian cancer Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA020526	rs_80358694	17 SubmittersRCV000044452 RCV000077330 RCV000129285 RCV000212237 RCV000413529 RCV001109714 RCV001281727 RCV003149681 RCV001353885
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 SubmittersRCV000044590 RCV000113731 RCV000131488 RCV000212206 RCV001083460 RCV001111541 RCV001355912 RCV004584182
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 SubmittersRCV000044656 RCV000113427 RCV000131487 RCV000590661 RCV000855580 RCV001112467 RCV001358175 RCV003607214 RCV004584183
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 breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group D1 Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA022780	rs_55996097	23 SubmittersRCV000077357 RCV000167807 RCV000129072 RCV000168580 RCV000336386 RCV000755862 RCV004542701
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 breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 BRCA2-related disorder Familial pancreatic carcinoma	Criteria Provided Conflicting Classifications	CA023455	rs_80358833	20 SubmittersRCV000044813 RCV000077366 RCV000195331 RCV000129689 RCV000859013 RCV000318984 RCV004537198 RCV005357328
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 Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA023655	rs_80358849	12 SubmittersRCV000083122 RCV000120341 RCV000166225 RCV001110580 RCV001529429 RCV001374119
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 breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA023819	rs_397507838	12 SubmittersRCV000083125 RCV000486364 RCV000709324 RCV000759639 RCV000580567 RCV003225719 RCV005364928
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 BRCA2-related cancer predisposition Condition: not provided Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA023867	rs_56172926	25 SubmittersRCV000044901 RCV000077370 RCV000131282 RCV001085349 RCV001112565 RCV004803870 RCV001705700 RCV003492360
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 Breast neoplasm Fanconi anemia complementation group D1 Condition: not provided BRCA2-related cancer predisposition Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA024008	rs_11571659	28 SubmittersRCV000044938 RCV000077373 RCV000120342 RCV000128955 RCV000414271 RCV000311226 RCV000656613 RCV004803872 RCV003149687
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 BRCA2-related disorder BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA024312	rs_41293503	19 SubmittersRCV000045026 RCV000083129 RCV000165940 RCV000216299 RCV000781142 RCV001109885 RCV000763895 RCV003492361 RCV004732620 RCV004803875
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 Hereditary breast ovarian cancer syndrome not specified Condition: not provided Pancreatic cancer, susceptibility to, 2 Fanconi anemia complementation group D1	Criteria Provided Conflicting Classifications	CA024315	rs_80358895	11 SubmittersRCV000113631 RCV000130198 RCV001351104 RCV000212251 RCV000656798 RCV005357336 RCV001110667
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 Familial colorectal cancer type X	Criteria Provided Conflicting Classifications	CA024407	rs_80358904	13 SubmittersRCV000077383 RCV000162802 RCV000225748 RCV001110668 RCV001284581 RCV001818218 RCV005357337
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)	SNV Germline	Chr13:32341176	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Familial cancer of breast Fanconi anemia complementation group D1 Malignant tumor of breast Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA024458	rs_55712212	29 SubmittersRCV000045064 RCV000077387 RCV000074551 RCV000131679 RCV000735591 RCV002294006 RCV001110669 RCV001270288 RCV001200387 RCV004528247
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 Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia complementation group D1	Criteria Provided Multiple Submitters No Conflicts	CA024716	rs_28897743	17 SubmittersRCV000045113 RCV000077394 RCV000214499 RCV000256059 RCV000475905 RCV001353724 RCV001171445 RCV001310135 RCV001269283
NM_000059.4(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 not specified Fanconi anemia complementation group D1 Hereditary cancer-predisposing syndrome BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA025078	rs_81002793	9 SubmittersRCV000045210 RCV000113755 RCV000426181 RCV000302479 RCV000579409 RCV004542704
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 Fanconi anemia complementation group D1 Condition: not provided BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA025098	rs_80358969	10 SubmittersRCV000113764 RCV000164219 RCV001110755 RCV000759655 RCV004803897 RCV001305633 RCV004566836
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 Fanconi anemia	Criteria Provided Multiple Submitters No Conflicts	CA025358	rs_80359024	18 SubmittersRCV000113846 RCV000212265 RCV000510118 RCV001378206 RCV003460615 RCV005237472
NM_000059.4(BRCA2):c.7976+12G>A	SNV Germline	Chr13:32362705	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Malignant tumor of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA025363	rs_81002827	13 SubmittersRCV000045362 RCV000129688 RCV000113847 RCV000195308 RCV000293235 RCV001353771 RCV003492368
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 Malignant tumor of breast Fanconi anemia complementation group D1 Breast and/or ovarian cancer BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA025521	rs_80359069	19 SubmittersRCV000045453 RCV000077431 RCV000129733 RCV000214196 RCV001080912 RCV001353878 RCV001110061 RCV003149693 RCV004537208
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 Familial prostate cancer Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA025663	rs_80359097	14 SubmittersRCV000045529 RCV000077440 RCV000164639 RCV001114949 RCV005357362 RCV001561218 RCV003235008
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 Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder Hearing impairment Cerebral palsy Neurodevelopmental delay Familial cancer of breast Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1	Criteria Provided Multiple Submitters No Conflicts	CA025672	rs_81002806	12 SubmittersRCV000113945 RCV000502951 RCV000571631 RCV001379438 RCV000985604 RCV004732632 RCV001007900 RCV002272042 RCV003483454
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)	SNV Germline	Chr13:32379412	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 Breast and/or ovarian cancer Fanconi anemia complementation group D1 BRCA2-related disorder BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025850	rs_28897754	31 SubmittersRCV000045642 RCV000162603 RCV000114008 RCV000120366 RCV000679194 RCV001170977 RCV001112820 RCV004528254 RCV004803924
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 BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025937	rs_80359155	13 SubmittersRCV000045694 RCV000077458 RCV000130329 RCV000377237 RCV000505780 RCV001175463 RCV004803927
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 Condition: not provided not specified 8 conditions Fanconi anemia complementation group D1	Criteria Provided Conflicting Classifications	CA026037	rs_80359186	10 SubmittersRCV000045750 RCV000077464 RCV000130237 RCV000656811 RCV000326170 RCV000765143 RCV001114168
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 Fanconi anemia complementation group D1 Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA026215	rs_55939572	15 SubmittersRCV000045856 RCV000083161 RCV000128972 RCV000587951 RCV001109313 RCV000735630 RCV001080083
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 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA000742	rs_80356880	7 SubmittersRCV000111781 RCV000763401 RCV001378528 RCV002433536
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 SubmittersRCV000241007 RCV000509759 RCV000767397 RCV001328427
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 Condition: not provided Hereditary breast ovarian cancer syndrome Fanconi anemia, complementation group S	Reviewed By Expert Panel	CA000825	rs_80357083	9 SubmittersRCV000111573 RCV000566344 RCV005243109 RCV001852985 RCV005357376
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter)	SNV Germline	Chr17:43094239	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Fanconi anemia, complementation group S	Reviewed By Expert Panel	CA000845	rs_80357346	5 SubmittersRCV000111583 RCV002381345 RCV000767398
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 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA000862	rs_80357446	27 SubmittersRCV000077487 RCV000166901 RCV000434130 RCV000496386 RCV000735465 RCV000763011 RCV005394278
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 Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA000918	rs_62625300	12 SubmittersRCV000047448 RCV000111599 RCV000148411 RCV000215677 RCV000679681 RCV000764125
NM_007294.4(BRCA1):c.146T>G (p.Leu49Arg)	SNV Germline	Chr17:43106522	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA000986	rs_273897660	7 SubmittersRCV000111885 RCV001011756 RCV001301250 RCV005357377
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 Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Familial cancer of breast Pancreatic cancer, susceptibility to, 4 BRCA1-related cancer predisposition	Criteria Provided Conflicting Classifications	CA001127	rs_397508902	11 SubmittersRCV000166298 RCV000167785 RCV000656786 RCV000662632 RCV002483062 RCV004803961
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 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA001154	rs_80356859	12 SubmittersRCV000083172 RCV000220799 RCV000438467 RCV001415715 RCV002262608 RCV005357380
NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter)	SNV Germline	Chr17:43106490	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Ovarian cancer Hereditary cancer-predisposing syndrome Fanconi anemia, complementation group S	Reviewed By Expert Panel	CA001162	rs_80357471	14 SubmittersRCV000077496 RCV000496952 RCV000505825 RCV004698337 RCV002399413 RCV005357381
NM_007294.4(BRCA1):c.1793T>G (p.Leu598Ter)	SNV Germline	Chr17:43093738	Pathogenic	Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA001164	rs_80357118	9 SubmittersRCV000162846 RCV000111687 RCV001852988 RCV005364936
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)	SNV Germline	Chr17:43093650	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 Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA001223	rs_80356838	17 SubmittersRCV000111719 RCV000212164 RCV000165591 RCV001408201 RCV000586671 RCV005357382
NM_007294.4(BRCA1):c.1912G>T (p.Glu638Ter)	SNV Germline	Chr17:43093619	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S	Reviewed By Expert Panel	CA001256	rs_80357005	5 SubmittersRCV000111732 RCV005357383
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)	SNV Germline	Chr17:43093481	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 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 BRCA1-related cancer predisposition	Criteria Provided Conflicting Classifications	CA001361	rs_397508934	13 SubmittersRCV000047694 RCV000485811 RCV000130395 RCV000768616 RCV000586501 RCV000764123 RCV004803967
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 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA001420	rs_80356913	11 SubmittersRCV000112023 RCV000503702 RCV001180531 RCV001384425 RCV004795985
NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser)	SNV Germline	Chr17:43093263	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA001515	rs_80356884	11 SubmittersRCV000111812 RCV000129867 RCV000254635 RCV001281712 RCV005016334 RCV000047778
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 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	Criteria Provided Conflicting Classifications	CA001522	rs_80356869	8 SubmittersRCV000111815 RCV001368299 RCV000584283 RCV001762162 RCV005357385
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 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	CA001536	rs_80357063	15 SubmittersRCV000047791 RCV000077513 RCV000222520 RCV000445000 RCV002496716
NM_007294.4(BRCA1):c.2419G>T (p.Ala807Ser)	SNV Germline	Chr17:43093112	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA001612	rs_80357240	6 SubmittersRCV000111854 RCV001194351 RCV001015485 RCV001363802 RCV005357388
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)	SNV Germline	Chr17:43104928	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 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 and/or ovarian cancer Malignant tumor of breast Condition: not provided	Reviewed By Expert Panel	CA001613	rs_80357350	13 SubmittersRCV000112105 RCV000047834 RCV000763008 RCV001015488 RCV000735472 RCV001353463 RCV003321493
NM_007294.4(BRCA1):c.2591C>G (p.Ser864Ter)	SNV Germline	Chr17:43092940	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA001703	rs_80357003	7 SubmittersRCV000241398 RCV000132313 RCV000496756 RCV004700334 RCV005016335
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 Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA001742	rs_80357480	17 SubmittersRCV000047914 RCV000111910 RCV000129905 RCV000589310 RCV000768614 RCV001081135 RCV005016336
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)	SNV Germline	Chr17:43092809	Pathogenic	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast neoplasm Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Breast and/or ovarian cancer Fanconi anemia, complementation group S	Reviewed By Expert Panel	CA001792	rs_80356978	33 SubmittersRCV000074576 RCV000077527 RCV000047943 RCV000131878 RCV000148387 RCV000763005 RCV000735484 RCV005229873
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)	SNV Germline	Chr17:43092434	Pathogenic	Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA002029	rs_273899698	6 SubmittersRCV000216019 RCV000077538 RCV000763004
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 Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA002133	rs_80356900	10 SubmittersRCV000112054 RCV000214206 RCV000506903 RCV001350762 RCV001582548 RCV005357391
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 Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA002215	rs_80357101	13 SubmittersRCV000077548 RCV000221866 RCV000590692 RCV000765364 RCV001296484
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 Condition: not provided Hereditary cancer-predisposing syndrome not specified BRCA1-related cancer predisposition Fanconi anemia, complementation group S BRCA1-related disorder	Criteria Provided Conflicting Classifications	CA002289	rs_80356944	17 SubmittersRCV000048242 RCV000112127 RCV001092620 RCV000509865 RCV000779887 RCV004803985 RCV005357394 RCV004554662
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)	SNV Germline	Chr17:43091933	Pathogenic	Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 not specified BRCA1-related disorder	Reviewed By Expert Panel	CA002296	rs_62625307	23 SubmittersRCV000048245 RCV000131819 RCV000159977 RCV000077552 RCV000763003 RCV001001611 RCV004554663
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 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA002319	rs_273900711	13 SubmittersRCV000048260 RCV000077553 RCV000130630 RCV001251417 RCV005016337 RCV003226902 RCV005357397
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 Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S	Reviewed By Expert Panel	CA002328	rs_80356923	19 SubmittersRCV000112143 RCV000413182 RCV000562775 RCV000758815 RCV000779886 RCV001271013 RCV003162410 RCV004795987
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 Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Familial cancer of breast Pancreatic cancer, susceptibility to, 4 not specified Malignant tumor of breast Familial cancer of breast	Criteria Provided Conflicting Classifications	CA002337	rs_273900712	14 SubmittersRCV000048271 RCV000112145 RCV000164401 RCV000758816 RCV000765362 RCV001194349 RCV001354959 RCV002250537
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)	SNV Germline	Chr17:43091638	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA002504	rs_80357440	11 SubmittersRCV000162869 RCV000212178 RCV000077557 RCV000763002 RCV000587766
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 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided	Reviewed By Expert Panel	CA002562	rs_80357475	10 SubmittersRCV000048405 RCV000111552 RCV000131890 RCV000763402 RCV001357041
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)	SNV Germline	Chr17:43090963	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Breast neoplasm Hereditary cancer-predisposing syndrome not specified 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 Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Familial cancer of breast	Criteria Provided Conflicting Classifications	CA002665	rs_78951648	15 SubmittersRCV000077563 RCV000240719 RCV000218513 RCV000417371 RCV001506260 RCV002250543 RCV005016339 RCV004998169 RCV005357401
NM_007294.4(BRCA1):c.4485-1G>A	SNV Germline	Chr17:43074522	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Familial cancer of breast Pancreatic cancer, susceptibility to, 4 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 SubmittersRCV000112343 RCV000235386 RCV000580034 RCV000496695 RCV000762999 RCV001171415 RCV001353957
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)	SNV Germline	Chr17:43074482	Pathogenic	Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided not specified Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast and/or ovarian cancer Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA002893	rs_80356885	30 SubmittersRCV000048586 RCV000129129 RCV000077575 RCV000236102 RCV001001033 RCV000762998 RCV003492388 RCV004584141
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 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA002930	rs_80357277	6 SubmittersRCV000077580 RCV001386983 RCV002326775 RCV005016340
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)	SNV Germline	Chr17:43074381	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided not specified Fanconi anemia, complementation group S Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA002933	rs_41293457	13 SubmittersRCV000112366 RCV000129407 RCV001703953 RCV001778692 RCV005357405 RCV000048609
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 Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA002955	rs_80356906	9 SubmittersRCV000048622 RCV000112376 RCV001176277 RCV001280674 RCV005364943 RCV003237432
NM_007294.4(BRCA1):c.4675+1G>A	SNV Germline	Chr17:43074330	Pathogenic	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Breast neoplasm 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 Breast and/or ovarian cancer Inherited ovarian cancer (without breast cancer)	Reviewed By Expert Panel	CA002957	rs_80358044	30 SubmittersRCV000048623 RCV000077582 RCV000414441 RCV000131822 RCV000762997 RCV000225764 RCV000735555 RCV005252719
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 Hereditary breast ovarian cancer syndrome Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA003012	rs_80357002	14 SubmittersRCV000083212 RCV000166139 RCV000437561 RCV001081217 RCV005364944
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)	SNV Germline	Chr17:43071071	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 Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA003050	rs_80356987	19 SubmittersRCV000048677 RCV000083213 RCV000130923 RCV000235839 RCV000413325 RCV000586352 RCV003149708 RCV002247445 RCV002483064
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)	SNV Germline	Chr17:43067614	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Breast neoplasm Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA003183	rs_397507239	15 SubmittersRCV000048756 RCV000130370 RCV000077592 RCV000225765 RCV000240688 RCV000765357 RCV000656791 RCV001353418
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 Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA003197	rs_80358181	16 SubmittersRCV000112483 RCV000255098 RCV000496317 RCV001378309 RCV001271029 RCV002345343 RCV004795988
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 Breast and colorectal cancer Condition: not provided Fanconi anemia complementation group A Hereditary cancer-predisposing syndrome Ovarian cancer Familial cancer of breast Fanconi anemia, complementation group S Malignant tumor of breast Endometrial carcinoma BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA003234	rs_55770810	41 SubmittersRCV000048789 RCV000077595 RCV000148390 RCV000159999 RCV000191041 RCV000131821 RCV000239322 RCV000457515 RCV000585864 RCV001357133 RCV003128133 RCV004804015
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 Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA003240	rs_80357264	14 SubmittersRCV000112724 RCV000130039 RCV000487016 RCV000656995 RCV001089404 RCV005357411
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 Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA003262	rs_80357132	15 SubmittersRCV000048808 RCV000112502 RCV000733369 RCV001023598 RCV005357412
NM_007294.4(BRCA1):c.5153-1G>A	SNV Germline	Chr17:43063374	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA003295	rs_80358137	13 SubmittersRCV000112530 RCV000522401 RCV000496373 RCV001023627 RCV005394283
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)	SNV Germline	Chr17:43063361	Conflicting classifications of pathogenicity	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 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA003318	rs_80357104	20 SubmittersRCV000048839 RCV000077606 RCV000214443 RCV000236284 RCV001354040 RCV002490620
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser)	SNV Germline	Chr17:43063337	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 BRCA1-related disorder Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA003331	rs_80357171	15 SubmittersRCV000077607 RCV000235134 RCV000132266 RCV000985247 RCV001305771 RCV004758633 RCV005364945
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 Fanconi anemia, complementation group S	Criteria Provided Multiple Submitters No Conflicts	CA003337	rs_80358004	7 SubmittersRCV000112550 RCV000131171 RCV000486220 RCV003529968 RCV005357413
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 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 BRCA1-related cancer predisposition Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA003343	rs_80358079	12 SubmittersRCV000048851 RCV000077608 RCV000583637 RCV000762996 RCV001171437 RCV004566894 RCV005394284
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)	SNV Germline	Chr17:43057078	Pathogenic	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Breast neoplasm Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Breast and/or ovarian cancer	Reviewed By Expert Panel	CA003389	rs_80357123	45 SubmittersRCV000048882 RCV000077611 RCV000074600 RCV000786961 RCV000162884 RCV000414226 RCV000763399 RCV001270975
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 Fanconi anemia, complementation group S	Criteria Provided Multiple Submitters No Conflicts	CA003392	rs_80357442	7 SubmittersRCV000112580 RCV000567938 RCV001378200 RCV001811343 RCV005364946
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 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA003394	rs_80357074	6 SubmittersRCV000112581 RCV000563666 RCV001326888 RCV003321495 RCV004819215
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 Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA003470	rs_80357324	10 SubmittersRCV000077613 RCV000164158 RCV001545333 RCV001498333 RCV003235023 RCV005357416
NM_007294.4(BRCA1):c.5333-1G>A	SNV Germline	Chr17:43049195	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA003494	rs_80358126	7 SubmittersRCV000169281 RCV000758843 RCV001384038 RCV002345349 RCV004795989
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 Fanconi anemia, complementation group S	Criteria Provided Multiple Submitters No Conflicts	CA003508	rs_80357474	13 SubmittersRCV000048948 RCV000112624 RCV000132201 RCV000236823 RCV005357417
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 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Ovarian neoplasm Malignant tumor of breast Breast carcinoma	Reviewed By Expert Panel	CA003599	rs_80356962	34 SubmittersRCV000048996 RCV000112656 RCV000162887 RCV000167788 RCV000414344 RCV000735516 RCV000763398 RCV000785212 RCV001353974 RCV001554250
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	SNV Germline/somatic	Chr17:43045767	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Breast neoplasm Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Ovarian neoplasm Breast and/or ovarian cancer Malignant tumor of breast Familial cancer of breast Lung cancer Ovarian neoplasm Breast carcinoma Gastric cancer Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA003674	rs_41293465	50 SubmittersRCV000077627 RCV000049020 RCV000240766 RCV000131862 RCV000203652 RCV000238956 RCV000785213 RCV000735447 RCV001353835 RCV001527479 RCV001554249 RCV003162421 RCV002496720 RCV004772834
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys)	SNV Germline	Chr17:43045764	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer not specified Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA003678	rs_80356942	13 SubmittersRCV000112686 RCV000168525 RCV000219922 RCV000195397 RCV000735480 RCV005237483 RCV005357419
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 not specified Hereditary breast ovarian cancer syndrome Condition: not provided Inherited breast cancer and ovarian cancer Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA003761	rs_80357394	12 SubmittersRCV000112753 RCV000129590 RCV001268974 RCV000225767 RCV000589445 RCV005237484 RCV005357420
NM_007294.4(BRCA1):c.800C>G (p.Ser267Ter)	SNV Germline	Chr17:43094731	Pathogenic	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	CA003883	rs_80357392	6 SubmittersRCV000112791 RCV005357422 RCV001381875 RCV002415507
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 Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Fanconi anemia, complementation group S Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA003942	rs_80357039	10 SubmittersRCV000112804 RCV000507601 RCV000563578 RCV000764126 RCV001281716 RCV001370720
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)	SNV Germline	Chr16:13947661	Likely pathogenic	Fanconi anemia complementation group Q Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Condition: not provided ERCC4-Related Disorders	Criteria Provided Multiple Submitters No Conflicts	CA143933	rs_149364215	5 SubmittersRCV000049245 RCV001067959 RCV005016345 RCV003144119 RCV004700343
NM_005236.3(ERCC4):c.689T>C (p.Leu230Pro)	SNV Germline	Chr16:13928132	Pathogenic	Fanconi anemia complementation group Q	No Assertion Criteria Provided	CA143936	rs_397509402	2 SubmittersRCV000049247
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)	SNV Germline	Chr16:13935697	Pathogenic/Likely pathogenic	Xeroderma pigmentosum, type F/Cockayne syndrome Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Fanconi anemia complementation group Q XFE progeroid syndrome Xeroderma pigmentosum ERCC4-related disorder Autosomal recessive cerebellar ataxia	Criteria Provided Multiple Submitters No Conflicts	CA143941	rs_147105770	7 SubmittersRCV000049250 RCV000700109 RCV000762956 RCV002222373 RCV003415812 RCV005429220
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp)	SNV Germline	Chr17:43091976	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer 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	Criteria Provided Conflicting Classifications	CA002273	rs_587779368	11 SubmittersRCV000077551 RCV000074581 RCV000165151 RCV000469806 RCV000765363 RCV000766573
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp)	SNV Germline	Chr17:43076562	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 Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA002829	rs_80357075	15 SubmittersRCV000077572 RCV000120257 RCV000131557 RCV000724288 RCV001083415 RCV005357438
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 Fanconi anemia complementation group D1 Condition: not provided Familial colorectal cancer type X	Criteria Provided Conflicting Classifications	CA023638	rs_398122547	8 SubmittersRCV000076954 RCV000471187 RCV000509879 RCV001113535 RCV000758918 RCV005357503
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)	SNV Germline	Chr13:32340895	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Condition: not provided	Criteria Provided Conflicting Classifications	CA024153	rs_398122560	12 SubmittersRCV000076969 RCV000160235 RCV000131800 RCV000234409 RCV001109883 RCV003477474
NM_007294.4(BRCA1):c.134+5G>A	SNV Germline	Chr17:43115721	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Familial cancer of breast 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	7 SubmittersRCV000077065 RCV005394334 RCV001010944 RCV001221249 RCV003477477
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu)	SNV Germline	Chr17:43091663	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA002491	rs_80357254	13 SubmittersRCV000218431 RCV001193691 RCV005357512 RCV000077134 RCV000759529 RCV000234532
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)	SNV Germline	Chr17:43091477	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 cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA002590	rs_80357202	8 SubmittersRCV000077137 RCV000763001 RCV001021760 RCV001268679 RCV001854354
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)	SNV Germline	Chr17:43049170	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Malignant tumor of breast Hereditary breast ovarian cancer syndrome Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Triple-negative breast cancer	Criteria Provided Conflicting Classifications	CA003521	rs_398122697	16 SubmittersRCV000077166 RCV000159852 RCV000465437 RCV004796005 RCV000766591 RCV000509661 RCV005401325
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 Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA003820	rs_398122708	9 SubmittersRCV000077181 RCV000233161 RCV000569574 RCV001800381 RCV003493435 RCV005357515
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)	SNV Germline	Chr13:32333240	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 Malignant tumor of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA013120	rs_398122731	15 SubmittersRCV000077665 RCV000163030 RCV000160207 RCV000531905 RCV001109420 RCV001353480 RCV001703984
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)	SNV Germline	Chr13:32336541	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Breast neoplasm Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided 8 conditions Breast-ovarian cancer, familial, susceptibility to, 2 not specified Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA014563	rs_431825296	14 SubmittersRCV000166578 RCV000240800 RCV005357528 RCV000758870 RCV000763882 RCV000082901 RCV002298468 RCV001112184 RCV000637814 RCV000677830
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)	SNV Germline	Chr13:32337581	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA017586	rs_431825304	13 SubmittersRCV000222899 RCV002247480 RCV000082909 RCV000588617 RCV000799401 RCV001113630 RCV004732659
NM_007294.4(BRCA1):c.1015A>G (p.Lys339Glu)	SNV Germline	Chr17:43094516	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Fanconi anemia, complementation group S Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA000685	rs_55842957	11 SubmittersRCV000083015 RCV000776162 RCV005357532 RCV000417490 RCV001085581
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 not specified Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA002795	rs_431825407	7 SubmittersRCV000083052 RCV000582878 RCV000637934 RCV001636653 RCV001798285 RCV004586546 RCV005394354
NM_007294.4(BRCA1):c.5467+3A>C	SNV Germline	Chr17:43047640	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Fanconi anemia, complementation group S Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA003613	rs_431825417	7 SubmittersRCV001040934 RCV001072163 RCV001528434 RCV005364977
NM_007294.4(BRCA1):c.5468-40T>A	SNV Germline	Chr17:43045842	Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Single Submitter	CA003626	rs_80358151	2 SubmittersRCV000112667 RCV005394366
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)	SNV Germline	Chr13:32379878	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 Fanconi anemia complementation group D1	Criteria Provided Multiple Submitters No Conflicts	CA025963	rs_80359161	9 SubmittersRCV000114042 RCV000129295 RCV000758971 RCV001055261 RCV003460793 RCV001568367
NC_000016.10:g.23641315C>G	SNV Germline	Chr16:23641315	Conflicting classifications of pathogenicity	Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA269467	rs_138200248	4 SubmittersRCV000282144 RCV000374410 RCV001030094 RCV000829438
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp)	SNV Germline	Chr16:23635546	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Condition: not provided Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA193504	rs_202241382	8 SubmittersRCV000165476 RCV000402501 RCV000483117 RCV001087026 RCV004595925
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)	SNV Germline	Chr16:23635536	Conflicting classifications of pathogenicity	Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA151212	rs_45494092	28 SubmittersRCV000114450 RCV000121752 RCV000127306 RCV001116860 RCV000755592 RCV001354445 RCV001798291
NM_024675.4(PALB2):c.110G>A (p.Arg37His)	SNV Germline	Chr16:23637951	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 PALB2-related disorder	Criteria Provided Conflicting Classifications	CA288386	rs_202194596	14 SubmittersRCV000114460 RCV000116061 RCV000212768 RCV000780571 RCV002483177 RCV004739369
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)	SNV Germline	Chr16:23635401	Conflicting classifications of pathogenicity	Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA269483	rs_515726063	11 SubmittersRCV000114461 RCV000483203 RCV000567033 RCV002483178
NM_024675.4(PALB2):c.1194G>A (p.Val398=)	SNV Germline	Chr16:23635352	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group N Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA151219	rs_61755173	29 SubmittersRCV000114462 RCV000127307 RCV000212786 RCV000327932 RCV000588666 RCV001170350 RCV001357080 RCV005234992
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)	SNV Germline	Chr16:23641147	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Esophageal atresia/tracheoesophageal fistula Fanconi anemia complementation group N Condition: not provided Breast and/or ovarian cancer PALB2-related disorder Malignant tumor of breast not specified	Criteria Provided Conflicting Classifications	CA288392	rs_45619737	15 SubmittersRCV000116063 RCV000114464 RCV000515208 RCV000590674 RCV001798292 RCV004739370 RCV001358373 RCV001797625
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 PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA288398	rs_45510998	21 SubmittersRCV000114466 RCV000116065 RCV000590540 RCV001255214 RCV003483472 RCV004739371 RCV005394371
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)	SNV Germline	Chr16:23630455	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 5 PALB2-related disorder	Criteria Provided Conflicting Classifications	CA288416	rs_370422990	18 SubmittersRCV000114495 RCV000116072 RCV001292820 RCV000588850 RCV001171429 RCV005359042 RCV004529918
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)	SNV Germline	Chr16:23637865	Pathogenic/Likely pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3	Criteria Provided Multiple Submitters No Conflicts	CA187393	rs_180177083	18 SubmittersRCV000114503 RCV000163078 RCV000235795 RCV000588616 RCV001798296 RCV005016383
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)	SNV Germline	Chr16:23629768	Pathogenic/Likely pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N	Criteria Provided Multiple Submitters No Conflicts	CA163823	rs_180177112	14 SubmittersRCV000114524 RCV000129116 RCV000236024 RCV001781442 RCV003330435
NM_024675.4(PALB2):c.2514+3A>G	SNV Germline	Chr16:23629637	Conflicting classifications of pathogenicity	Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast and/or ovarian cancer Familial pancreatic carcinoma	Criteria Provided Conflicting Classifications	CA269537	rs_515726088	9 SubmittersRCV000114530 RCV000160843 RCV000573333 RCV005016384 RCV003149781 RCV005359046
NM_024675.4(PALB2):c.2586+10A>G	SNV Germline	Chr16:23629194	Conflicting classifications of pathogenicity	Familial cancer of breast not specified Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Endometrial carcinoma Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA292645	rs_373321719	15 SubmittersRCV000114537 RCV000127295 RCV000588544 RCV000580770 RCV001118200 RCV001358400 RCV003149782
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)	SNV Germline	Chr16:23626310	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group N not specified Familial ovarian cancer Familial cancer of breast Fanconi anemia complementation group N PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA167879	rs_45476495	22 SubmittersRCV000114549 RCV000131257 RCV000587708 RCV001118198 RCV000483553 RCV003483473 RCV004739374 RCV005016385
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)	SNV Germline	Chr16:23626266	Pathogenic	Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3	Criteria Provided Multiple Submitters No Conflicts	CA269561	rs_180177122	14 SubmittersRCV000114552 RCV000255170 RCV000562748 RCV002498481 RCV004782240 RCV005394374
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)	SNV Germline	Chr16:23624070	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Condition: not provided Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA164110	rs_180177125	13 SubmittersRCV000114558 RCV000129279 RCV000764047 RCV000235847 RCV001798299
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)	SNV Germline	Chr16:23624027	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N not specified Malignant tumor of breast Condition: not provided PALB2-related disorder Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA151239	rs_45478192	34 SubmittersRCV000114561 RCV000116092 RCV000306515 RCV000417395 RCV001356702 RCV000586156 RCV004528790 RCV001170349 RCV004760375
NM_024675.4(PALB2):c.2835-1G>C	SNV Germline	Chr16:23623131	Pathogenic/Likely pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3	Criteria Provided Multiple Submitters No Conflicts	CA331795	rs_515726099	9 SubmittersRCV000114567 RCV000220116 RCV001171468 RCV004589552 RCV005016386
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)	SNV Germline	Chr16:23623114	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA161355	rs_149522412	21 SubmittersRCV000121763 RCV000129725 RCV001030355 RCV000397940 RCV000589520 RCV005359047
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)	SNV Germline	Chr16:23623096	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N not specified	Criteria Provided Conflicting Classifications	CA299741	rs_515726103	13 SubmittersRCV000114573 RCV000160848 RCV000212818 RCV000764046 RCV003226198
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)	SNV Germline	Chr16:23623062	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N PALB2-related disorder	Criteria Provided Conflicting Classifications	CA167762	rs_369132015	14 SubmittersRCV000114574 RCV000131197 RCV000215879 RCV001704012 RCV005394375 RCV004545746
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)	SNV Germline	Chr16:23636248	Conflicting classifications of pathogenicity	Familial cancer of breast Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Condition: not provided not specified PALB2-related disorder Pancreatic cancer, susceptibility to, 3 Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA288454	rs_61756147	18 SubmittersRCV000114577 RCV001119843 RCV000116095 RCV000212772 RCV001192907 RCV004528791 RCV001355228 RCV001249253 RCV003492442
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	SNV Germline	Chr16:23621362	Pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 5 Breast and/or ovarian cancer PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 NICE approved PARP inhibitor treatment Inherited breast cancer and ovarian cancer Inherited ovarian cancer (without breast cancer)	Reviewed By Expert Panel	CA251004	rs_180177132	34 SubmittersRCV000114591 RCV000116096 RCV000212822 RCV000588093 RCV001171469 RCV001535480 RCV003389455 RCV003492443 RCV004528792 RCV005016387 RCV004577322 RCV004584191 RCV004584192
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)	SNV Germline	Chr16:23614077	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA168501	rs_377713277	14 SubmittersRCV000114598 RCV000131630 RCV000485289 RCV000780560 RCV002483180
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)	SNV Germline	Chr16:23636231	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N PALB2-related disorder	Criteria Provided Conflicting Classifications	CA288463	rs_515726108	17 SubmittersRCV000114600 RCV000116099 RCV000212773 RCV001174951 RCV005359049 RCV002490766 RCV004529924
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)	SNV Germline	Chr16:23607963	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Condition: not provided Malignant tumor of breast Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 not specified PALB2-related disorder	Criteria Provided Conflicting Classifications	CA239946	rs_62625271	17 SubmittersRCV000114610 RCV000160852 RCV001116749 RCV000656940 RCV001358132 RCV000764043 RCV003493439 RCV004739377
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	SNV Germline	Chr16:23607958	Pathogenic/Likely pathogenic	Pancreatic cancer, susceptibility to, 3 Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Malignant tumor of breast Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Gastric cancer Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 5 PALB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA211207	rs_587776527	24 SubmittersRCV000114612 RCV000212825 RCV000160853 RCV000168017 RCV001030644 RCV002307393 RCV005003472 RCV003162531 RCV003149788 RCV003315406 RCV004528793
NM_024675.4(PALB2):c.3350+11A>G	SNV Germline	Chr16:23607853	Conflicting classifications of pathogenicity	not specified Familial cancer of breast Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA269616	rs_515726114	5 SubmittersRCV000424366 RCV001030411 RCV002466432
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro)	SNV Germline	Chr16:23603664	Conflicting classifications of pathogenicity	Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA331796	rs_515726116	8 SubmittersRCV000114623 RCV000481742 RCV000574823 RCV005016389
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)	SNV Germline	Chr16:23603592	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided bilateral breast cancer Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N not specified	Criteria Provided Conflicting Classifications	CA288478	rs_62625284	22 SubmittersRCV000114625 RCV000116104 RCV000585950 RCV001004833 RCV000764041 RCV004528795 RCV005394376 RCV001804169
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	25 SubmittersRCV000114647 RCV000121743 RCV000129207 RCV000376271 RCV000440737 RCV002225309
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)	SNV Germline	Chr16:23635917	Conflicting classifications of pathogenicity	not specified Breast and/or ovarian cancer Fanconi anemia complementation group N Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA161333	rs_57605939	23 SubmittersRCV000121750 RCV001798303 RCV000306267 RCV000114650 RCV000131969 RCV001705820 RCV002225310 RCV001358034
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)	SNV Germline	Chr16:23635795	Pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast and/or ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA269645	rs_180177091	16 SubmittersRCV000114657 RCV000210097 RCV000413603 RCV004813057 RCV004796018 RCV003492446
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys)	SNV Germline	Chr16:23635732	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Condition: not provided	Criteria Provided Conflicting Classifications	CA193995	rs_515726127	11 SubmittersRCV000114664 RCV000165689 RCV004595926 RCV002483181 RCV003477491
NM_024675.4(PALB2):c.897T>C (p.Ser299=)	SNV Germline	Chr16:23635649	Conflicting classifications of pathogenicity	Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group N Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA269660	rs_180177095	11 SubmittersRCV000114668 RCV000419649 RCV000566337 RCV000858848 RCV001118310 RCV001798304
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)	SNV Germline	Chr16:23638084	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided Fanconi anemia complementation group N Malignant tumor of breast PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA161318	rs_151316635	20 SubmittersRCV000114673 RCV000116117 RCV000121744 RCV000656932 RCV001119845 RCV001357251 RCV004529927 RCV005016391
NM_000136.3(FANCC):c.-78-2A>G	SNV Germline	Chr9:95249371	Conflicting classifications of pathogenicity	Condition: not provided Fanconi anemia Fanconi anemia complementation group C	Criteria Provided Conflicting Classifications	CA287176	rs_587779898	3 SubmittersRCV000115337 RCV001068445 RCV005359076
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 SubmittersRCV000115339 RCV000630863 RCV001030468 RCV001009634
NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys)	SNV Germline	Chr9:95111495	Conflicting classifications of pathogenicity	Condition: not provided Fanconi anemia Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C	Criteria Provided Conflicting Classifications	CA287184	rs_369684405	5 SubmittersRCV000115341 RCV000206060 RCV002381419 RCV005042212
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser)	SNV Germline	Chr9:95107225	Conflicting classifications of pathogenicity	Condition: not provided Fanconi anemia complementation group C Fanconi anemia Hereditary cancer-predisposing syndrome Hereditary cancer FANCC-related disorder	Criteria Provided Conflicting Classifications	CA287187	rs_56394801	8 SubmittersRCV000115342 RCV000709080 RCV000805530 RCV001011247 RCV003492471 RCV004748580
NM_000136.3(FANCC):c.1604G>A (p.Arg535His)	SNV Germline	Chr9:95101780	Conflicting classifications of pathogenicity	not specified Fanconi anemia Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA287196	rs_587779902	5 SubmittersRCV000115345 RCV000228424 RCV001012346 RCV005000998
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)	SNV Germline	Chr9:95247504	Conflicting classifications of pathogenicity	not specified Condition: not provided Fanconi anemia Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C Malignant tumor of breast Hereditary cancer FANCC-related disorder	Criteria Provided Conflicting Classifications	CA287202	rs_138629441	20 SubmittersRCV000115347 RCV000224234 RCV000197543 RCV000563479 RCV000709095 RCV001354572 RCV003492472 RCV003935098
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)	SNV Germline	Chr9:95249263	Conflicting classifications of pathogenicity	Fanconi anemia Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C Condition: not provided Malignant tumor of breast not specified Hereditary cancer	Criteria Provided Conflicting Classifications	CA287205	rs_143152201	10 SubmittersRCV000233348 RCV000567825 RCV000709097 RCV000656849 RCV001358189 RCV001818266 RCV004700418
NM_000136.3(FANCC):c.345+6A>T	SNV Germline	Chr9:95240643	Conflicting classifications of pathogenicity	not specified Fanconi anemia Condition: not provided	Criteria Provided Conflicting Classifications	CA287208	rs_368595927	4 SubmittersRCV000115349 RCV000196582 RCV003477494
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)	SNV Germline	Chr9:95172098	Conflicting classifications of pathogenicity	Condition: not provided Fanconi anemia Fanconi anemia complementation group C Hereditary cancer-predisposing syndrome not specified Hereditary cancer	Criteria Provided Conflicting Classifications	CA287213	rs_587779905	7 SubmittersRCV000115352 RCV000315029 RCV000709093 RCV000571052 RCV001818267 RCV003492473
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)	SNV Germline	Chr9:95149977	Conflicting classifications of pathogenicity	not specified Fanconi anemia Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C Fanconi anemia complementation group A Malignant tumor of breast Condition: not provided FANCC-related disorder	Criteria Provided Conflicting Classifications	CA159411	rs_140781259	16 SubmittersRCV000120979 RCV000200372 RCV000570280 RCV000709090 RCV000988214 RCV001356599 RCV001195037 RCV003945045
NM_000136.3(FANCC):c.843+1G>A	SNV Germline	Chr9:95135345	Pathogenic/Likely pathogenic	Fanconi anemia Fanconi anemia complementation group C Hereditary cancer-predisposing syndrome Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts	CA287232	rs_587779909	8 SubmittersRCV000204814 RCV000410480 RCV002444565 RCV001356332
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)	SNV Germline	Chr9:95125148	Conflicting classifications of pathogenicity	Fanconi anemia Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C Condition: not provided not specified Hereditary cancer FANCC-related disorder	Criteria Provided Conflicting Classifications	CA287233	rs_1800366	16 SubmittersRCV000196771 RCV000572525 RCV000709085 RCV001195051 RCV001818268 RCV004700419 RCV004748581
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val)	SNV Germline	Chr7:152649202	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group U XRCC2-related disorder Spermatogenic failure 50 Premature ovarian failure 17 Fanconi anemia complementation group U	Criteria Provided Conflicting Classifications	CA288130	rs_140214637	8 SubmittersRCV000115888 RCV000791415 RCV000570999 RCV000988018 RCV003945051 RCV005031607
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly)	SNV Germline	Chr7:152648865	Conflicting classifications of pathogenicity	not specified Colon cancer Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group U	Criteria Provided Conflicting Classifications	CA288141	rs_61762969	7 SubmittersRCV000115894 RCV000211556 RCV000571792 RCV000791413 RCV000988014
NM_005431.2(XRCC2):c.773G>A (p.Arg258His)	SNV Germline	Chr7:152648712	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Spermatogenic failure 50 Premature ovarian failure 17 Fanconi anemia complementation group U	Criteria Provided Conflicting Classifications	CA288147	rs_149186933	5 SubmittersRCV000656992 RCV000567423 RCV005031609
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 Malignant tumor of breast Hereditary breast ovarian cancer syndrome Gastric cancer PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 1 Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N	Criteria Provided Multiple Submitters No Conflicts	CA288395	rs_180177100	29 SubmittersRCV000116064 RCV000123331 RCV000254674 RCV001354096 RCV000588541 RCV003162546 RCV004529946 RCV004555854 RCV004668783 RCV005003478
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)	SNV Germline	Chr16:23630457	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Breast-ovarian cancer, familial, susceptibility to, 5 Breast-ovarian cancer, familial, susceptibility to, 2 PALB2-related disorder	Criteria Provided Conflicting Classifications	CA288413	rs_144617793	16 SubmittersRCV000116071 RCV000229982 RCV001030254 RCV000564017 RCV005016399 RCV005359104 RCV005623303 RCV004542828
NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile)	SNV Germline	Chr16:23630421	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA288419	rs_587780207	6 SubmittersRCV000116074 RCV000474485 RCV000567502 RCV002483190
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)	SNV Germline	Chr16:23629775	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Familial cancer of breast Condition: not provided not specified Malignant tumor of breast PALB2-related disorder	Criteria Provided Conflicting Classifications	CA288444	rs_377626805	16 SubmittersRCV000116084 RCV000292657 RCV000200135 RCV000212811 RCV000780574 RCV001354155 RCV004542829
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)	SNV Germline	Chr16:23629645	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group N Familial cancer of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome PALB2-related disorder Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA161349	rs_587778587	19 SubmittersRCV000121758 RCV000116087 RCV000656936 RCV000318539 RCV000989556 RCV001798359 RCV001030647 RCV004529947 RCV001356207
NM_024675.4(PALB2):c.2846G>A (p.Cys949Tyr)	SNV Germline	Chr16:23623119	Conflicting classifications of pathogenicity	not specified Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA161352	rs_587778588	8 SubmittersRCV000121761 RCV000635686 RCV000656938 RCV001804846 RCV005016400
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)	SNV Germline	Chr16:23623068	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Triple-negative breast cancer Condition: not provided Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N not specified Breast-ovarian cancer, familial, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA210470	rs_587780214	18 SubmittersRCV000116094 RCV000204848 RCV000202384 RCV000212819 RCV000764045 RCV002267857 RCV004760383
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)	SNV Germline	Chr16:23603471	Pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 1 PALB2-related disorder Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N	Reviewed By Expert Panel	CA288488	rs_118203998	22 SubmittersRCV000116108 RCV000200012 RCV000587765 RCV000212831 RCV000763376 RCV003493446 RCV004528809 RCV005394394
NM_024675.4(PALB2):c.551G>C (p.Ser184Thr)	SNV Germline	Chr16:23635995	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA288489	rs_587780220	5 SubmittersRCV000116109 RCV000559113 RCV001024216 RCV002498499
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser)	SNV Germline	Chr16:23635690	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Condition: not provided Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA288495	rs_45585833	9 SubmittersRCV000567956 RCV000410687 RCV001174832 RCV000766543 RCV005394395
NM_024675.4(PALB2):c.949A>C (p.Thr317Pro)	SNV Germline	Chr16:23635597	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA288504	rs_587780223	8 SubmittersRCV000116116 RCV000212783 RCV000472765 RCV002483191
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp)	SNV Germline	Chr17:61799194	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial cancer of breast Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA288508	rs_587780225	6 SubmittersRCV000116119 RCV000780058 RCV000558154 RCV000571154 RCV003137632
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)	SNV Germline	Chr17:61799185	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Breast carcinoma Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J Malignant tumor of breast Condition: not provided Breast and/or ovarian cancer Familial cancer of breast Ovarian cancer BRIP1-related disorder Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA157738	rs_150624408	26 SubmittersRCV000120413 RCV000116120 RCV000415326 RCV000409993 RCV000206467 RCV001356264 RCV000587794 RCV003149812 RCV001262875 RCV005430124 RCV004529948 RCV004764766
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)	SNV Germline	Chr17:61799125	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Familial ovarian cancer Gastric cancer Familial cancer of breast BRIP1-related disorder Hereditary breast ovarian cancer syndrome Ovarian cancer Fanconi anemia complementation group J	Criteria Provided Multiple Submitters No Conflicts	CA288511	rs_587780226	13 SubmittersRCV000116121 RCV000210150 RCV000699261 RCV001787088 RCV003162547 RCV003315646 RCV003483484 RCV005359106 RCV005430125
NM_032043.3(BRIP1):c.1357G>A (p.Ala453Thr)	SNV Germline	Chr17:61793713	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J not specified Familial cancer of breast Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA288514	rs_587780227	9 SubmittersRCV000116122 RCV000221894 RCV000524937 RCV002465521 RCV004567028 RCV005359107
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)	SNV Germline	Chr17:61793698	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J Familial ovarian cancer Ovarian cancer Fanconi anemia complementation group J	Criteria Provided Multiple Submitters No Conflicts	CA288517	rs_587780228	15 SubmittersRCV000116123 RCV000212309 RCV000473135 RCV000781186 RCV001781450 RCV005359108 RCV005430126
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)	SNV Germline	Chr17:61780899	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Fanconi anemia complementation group J not specified Familial cancer of breast BRIP1-related disorder Ovarian cancer	Criteria Provided Conflicting Classifications	CA288532	rs_28997571	15 SubmittersRCV000116130 RCV000196018 RCV000212315 RCV000412043 RCV001192970 RCV003315649 RCV004528811 RCV005430129
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)	SNV Germline	Chr17:61744456	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Familial cancer of breast BRIP1-related disorder Ovarian cancer Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA208855	rs_587780235	19 SubmittersRCV000116137 RCV000194594 RCV000477497 RCV000586157 RCV001762241 RCV004732686 RCV005430132
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met)	SNV Germline	Chr17:61686035	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Fanconi anemia complementation group J Fanconi anemia complementation group J Condition: not provided Familial cancer of breast Ovarian cancer	Criteria Provided Conflicting Classifications	CA288567	rs_587780244	9 SubmittersRCV000116148 RCV000212329 RCV000229209 RCV000410789 RCV000656814 RCV003315654 RCV005430137
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 Fanconi anemia complementation group J Condition: not provided Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast BRIP1-related disorder Breast and/or ovarian cancer Familial ovarian cancer Ovarian cancer	Criteria Provided Conflicting Classifications	CA288570	rs_140233356	19 SubmittersRCV000116149 RCV000199089 RCV000411198 RCV000585934 RCV001030467 RCV000855583 RCV003315655 RCV004529951 RCV003492507 RCV005359111 RCV005430138
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His)	SNV Germline	Chr17:61683942	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided not specified Familial cancer of breast Ovarian cancer Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA288579	rs_367816363	9 SubmittersRCV000116152 RCV000206801 RCV000212333 RCV000781175 RCV003315656 RCV005430139
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)	SNV Germline	Chr17:61857121	Conflicting classifications of pathogenicity	Familial cancer of breast Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Condition: not provided Ovarian neoplasm Fanconi anemia complementation group J Familial cancer of breast not specified Ovarian cancer BRIP1-related disorder Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA288582	rs_587780247	18 SubmittersRCV000205068 RCV000116153 RCV000212298 RCV000409171 RCV000411175 RCV000990040 RCV000780051 RCV005430140 RCV004529952 RCV005359112
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)	SNV Germline	Chr17:61683810	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome not specified Familial cancer of breast BRIP1-related disorder Inherited ovarian cancer (without breast cancer) Ovarian cancer Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA288585	rs_150813402	10 SubmittersRCV000116154 RCV000204707 RCV000218787 RCV000780057 RCV003315657 RCV004732687 RCV005237555 RCV005430141
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)	SNV Germline	Chr17:61683715	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J not specified Malignant tumor of breast Familial cancer of breast Ovarian cancer	Criteria Provided Conflicting Classifications	CA288588	rs_587780248	11 SubmittersRCV000116155 RCV000204181 RCV000214821 RCV000409119 RCV001194197 RCV001354313 RCV003315658 RCV005430142
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)	SNV Germline	Chr17:61683668	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group J Condition: not provided Familial cancer of breast Familial cancer of breast Fanconi anemia complementation group J Malignant tumor of breast BRIP1-related disorder Ovarian cancer	Criteria Provided Conflicting Classifications	CA288591	rs_145855459	14 SubmittersRCV000116156 RCV000212334 RCV000410562 RCV000587193 RCV000989979 RCV001080937 RCV001354736 RCV004529953 RCV005430143
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)	SNV Germline	Chr17:61683582	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Fanconi anemia complementation group J not specified Familial cancer of breast Fanconi anemia complementation group J Ovarian cancer Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA288597	rs_45603843	14 SubmittersRCV000116158 RCV000200049 RCV000662347 RCV001535683 RCV003150947 RCV003315659 RCV005430144 RCV005600683
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 Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group J Cervical cancer Familial cancer of breast Fanconi anemia complementation group J Malignant tumor of breast Familial cancer of breast Breast and/or ovarian cancer BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA288606	rs_550707862	16 SubmittersRCV000116163 RCV000235147 RCV000586611 RCV001030546 RCV001127949 RCV001356235 RCV001082539 RCV001356416 RCV004786373 RCV003149814 RCV004529954
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)	SNV Germline	Chr17:61808595	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group J Condition: not provided Familial cancer of breast Familial cancer of breast Fanconi anemia complementation group J Malignant tumor of breast Ovarian cancer Breast and/or ovarian cancer BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA157728	rs_28997569	23 SubmittersRCV000116164 RCV000120409 RCV000411226 RCV000679792 RCV000515771 RCV001082519 RCV001269494 RCV005430148 RCV001798362 RCV004528813
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)	SNV Germline	Chr17:61808495	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group J Condition: not provided Familial cancer of breast Familial cancer of breast Fanconi anemia complementation group J Malignant tumor of breast Breast and/or ovarian cancer BRIP1-related disorder Ovarian cancer	Criteria Provided Conflicting Classifications	CA151532	rs_28997570	25 SubmittersRCV000116167 RCV000120408 RCV000412293 RCV000590718 RCV000990022 RCV001084039 RCV001354244 RCV001798363 RCV004732688 RCV005430150
NM_032043.3(BRIP1):c.993G>A (p.Met331Ile)	SNV Germline	Chr17:61801400	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J not specified	Criteria Provided Conflicting Classifications	CA288615	rs_587780252	7 SubmittersRCV000116168 RCV000771331 RCV000636062 RCV002267858
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)	SNV Germline	Chr17:58734193	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Condition: not provided Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA288618	rs_587780253	14 SubmittersRCV000116171 RCV000212951 RCV000227763 RCV000302331 RCV000709519 RCV000662871 RCV001704017 RCV005600687
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)	SNV Germline	Chr17:58692657	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-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O	Criteria Provided Conflicting Classifications	CA288621	rs_201523760	11 SubmittersRCV000116172 RCV000123370 RCV000411171 RCV000590726 RCV002307397 RCV002483192
NM_058216.3(RAD51C):c.406A>T (p.Met136Leu)	SNV Germline	Chr17:58696694	Conflicting classifications of pathogenicity	Fanconi anemia complementation group O Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Microcephaly Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA331898	rs_587780254	12 SubmittersRCV000205234 RCV000116173 RCV000571441 RCV001030586 RCV001192876 RCV001252722 RCV002477288 RCV003239288 RCV005600688
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)	SNV Germline	Chr17:58696716	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O not specified Breast-ovarian cancer, familial, susceptibility to, 3 RAD51C-related disorder Familial ovarian cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA331901	rs_587780255	18 SubmittersRCV000116174 RCV000123374 RCV000200995 RCV000663261 RCV001818287 RCV003330081 RCV004529955 RCV005600689 RCV005251064
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 Hereditary breast ovarian cancer syndrome Malignant tumor of breast not specified Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA288624	rs_587780256	19 SubmittersRCV000116175 RCV000199007 RCV000412269 RCV000588889 RCV004556053 RCV001358061 RCV002267859 RCV003492509
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 Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 3 Breast and/or ovarian cancer not specified RAD51C-related disorder Inherited ovarian cancer (without breast cancer)	Criteria Provided Conflicting Classifications	CA331904	rs_587780257	14 SubmittersRCV000116176 RCV000206409 RCV000212940 RCV000662721 RCV000709506 RCV001356484 RCV001798364 RCV003323404 RCV004529956 RCV004808579
NM_058216.3(RAD51C):c.706-2A>G	SNV Germline	Chr17:58709857	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Ovarian neoplasm Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O RAD51C-related disorder Familial ovarian cancer Long QT syndrome	Criteria Provided Multiple Submitters No Conflicts	CA288628	rs_587780259	26 SubmittersRCV000116178 RCV000254687 RCV000234445 RCV000456123 RCV000785234 RCV001194262 RCV000576612 RCV004528814 RCV005600690 RCV005625295
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)	SNV Germline	Chr17:58709937	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Condition: not provided Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 RAD51C-related disorder Malignant tumor of breast Breast and/or ovarian cancer Ovarian neoplasm not specified	Criteria Provided Conflicting Classifications	CA331905	rs_149331537	19 SubmittersRCV000116179 RCV000206074 RCV000411451 RCV000585995 RCV000765378 RCV000778506 RCV001356788 RCV001798365 RCV001195025 RCV001778711
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 Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Hereditary breast ovarian cancer syndrome 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 SubmittersRCV000116180 RCV000194252 RCV000515761 RCV000487827 RCV000662625 RCV000709513 RCV000989962 RCV001270343 RCV001798366 RCV002272129 RCV004528815
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)	SNV Germline	Chr17:61744469	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided Breast and/or ovarian cancer Familial cancer of breast BRIP1-related disorder Ovarian cancer Hereditary cancer	Criteria Provided Conflicting Classifications	CA157692	rs_45589637	26 SubmittersRCV000120396 RCV000123354 RCV000409608 RCV000131414 RCV001358098 RCV000488342 RCV001798382 RCV000989999 RCV000778128 RCV005430154 RCV003492522
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 Familial cancer of breast Ovarian cancer Breast and/or ovarian cancer Fanconi anemia complementation group J Ovarian cancer Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA157695	rs_571108955	17 SubmittersRCV000120397 RCV000165749 RCV000475545 RCV000656813 RCV001030536 RCV003315735 RCV003153386 RCV003492523 RCV005430155 RCV005600694
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)	SNV Germline	Chr17:61716003	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group J Hereditary breast ovarian cancer syndrome Familial cancer of breast Fanconi anemia complementation group J Malignant tumor of breast Familial cancer of breast Breast and/or ovarian cancer Ovarian cancer Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA157701	rs_201869624	20 SubmittersRCV000120399 RCV000131535 RCV000588835 RCV000709540 RCV001030535 RCV001083712 RCV001356698 RCV003315736 RCV003492524 RCV005430156
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)	SNV Germline	Chr17:61685937	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Fanconi anemia complementation group J Breast and/or ovarian cancer Familial cancer of breast Inherited ovarian cancer (without breast cancer) Ovarian cancer Fanconi anemia complementation group J Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA157707	rs_4988356	15 SubmittersRCV000120401 RCV000213879 RCV000468023 RCV000656815 RCV003144130 RCV003149827 RCV003315737 RCV004584195 RCV005430158 RCV005359136
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)	SNV Germline	Chr17:61683602	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Fanconi anemia complementation group J Condition: not provided Familial cancer of breast Familial ovarian cancer Fanconi anemia complementation group J Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA157710	rs_28997573	24 SubmittersRCV000120402 RCV000131003 RCV000204453 RCV000411479 RCV000589005 RCV000989978 RCV001535623 RCV003149828 RCV005089595 RCV005430159
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)	SNV Germline	Chr17:61847211	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast Ovarian cancer Malignant tumor of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA157719	rs_4988345	25 SubmittersRCV000120405 RCV000512967 RCV000129172 RCV000410168 RCV000990031 RCV001082598 RCV005430161 RCV001355393 RCV001798383
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter)	SNV Germline	Chr17:61801429	Pathogenic	not specified Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA157732	rs_587778139	3 SubmittersRCV000120411 RCV001854601 RCV003335108
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)	SNV Germline	Chr16:13948141	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Inborn genetic diseases Ovarian cancer Xeroderma pigmentosum, group F Xeroderma pigmentosum Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158873	rs_374186605	7 SubmittersRCV000120810 RCV000535348 RCV002515858 RCV003153389 RCV003315749 RCV002257428 RCV002470769
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)	SNV Germline	Chr16:13948175	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Inborn genetic diseases Condition: not provided Hereditary cancer-predisposing syndrome Xeroderma pigmentosum Hutchinson-Gilford syndrome	Criteria Provided Conflicting Classifications	CA158876	rs_4986933	11 SubmittersRCV000120811 RCV000476568 RCV000989535 RCV002515859 RCV004704960 RCV005251066 RCV002257429 RCV001034545
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg)	SNV Germline	Chr16:13948330	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Condition: not provided Xeroderma pigmentosum, group F	Criteria Provided Conflicting Classifications	CA158885	rs_150077735	5 SubmittersRCV000120814 RCV000474309 RCV001356061 RCV003315750
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)	SNV Germline	Chr16:13947713	Conflicting classifications of pathogenicity	not specified XFE progeroid syndrome ERCC4-related disorder Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Hereditary cancer-predisposing syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158888	rs_1800069	13 SubmittersRCV000120815 RCV001332584 RCV003915202 RCV001121237 RCV000463526 RCV005251067 RCV001788036 RCV002257430 RCV001354835 RCV002515860
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)	SNV Germline	Chr16:13922034	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Condition: not provided	Criteria Provided Conflicting Classifications	CA158897	rs_145315496	5 SubmittersRCV000120818 RCV001209805 RCV001543122 RCV000728799
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)	SNV Germline	Chr16:13934224	Conflicting classifications of pathogenicity	not specified Condition: not provided Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Hereditary cancer-predisposing syndrome Xeroderma pigmentosum ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA158906	rs_1799802	12 SubmittersRCV000120821 RCV000224511 RCV001116216 RCV003224157 RCV001083882 RCV005251068 RCV002257432 RCV003925183
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)	SNV Germline	Chr16:13935420	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Xeroderma pigmentosum Condition: not provided Hutchinson-Gilford syndrome Inborn genetic diseases Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA158912	rs_146601373	10 SubmittersRCV000120823 RCV000459235 RCV001117661 RCV002258800 RCV004704961 RCV001034544 RCV002515862 RCV005251069
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)	SNV Germline	Chr16:13935347	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Condition: not provided Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158918	rs_572439259	5 SubmittersRCV000120825 RCV005394415 RCV005229925 RCV000651482 RCV001294104
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)	SNV Germline	Chr16:13935495	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Fanconi anemia complementation group Q Condition: not provided ERCC4-related disorder Hereditary cancer-predisposing syndrome Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA158921	rs_41552412	13 SubmittersRCV000120826 RCV000343662 RCV000546465 RCV000764023 RCV001292825 RCV001355143 RCV003975071 RCV005251070 RCV002258801
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)	SNV Germline	Chr16:13935538	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158933	rs_143347563	4 SubmittersRCV000120830 RCV000989533 RCV001854624 RCV004786378
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)	SNV Germline	Chr16:13935659	Conflicting classifications of pathogenicity	not specified Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Condition: not provided Xeroderma pigmentosum Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Fanconi anemia complementation group Q Inborn genetic diseases Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA158936	rs_1800068	14 SubmittersRCV000120831 RCV000651477 RCV001119237 RCV001357601 RCV002257433 RCV002055332 RCV001294105 RCV002515863 RCV005251071
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)	SNV Germline	Chr16:89799202	Conflicting classifications of pathogenicity	not specified Fanconi anemia Fanconi anemia complementation group A Condition: not provided FANCA-related disorder	Criteria Provided Conflicting Classifications	CA159229	rs_13336566	9 SubmittersRCV000120911 RCV000469548 RCV001115652 RCV001509536 RCV003905153
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)	SNV Germline	Chr16:89799197	Pathogenic	not specified Fanconi anemia Fanconi anemia complementation group A Condition: not provided FANCA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA159232	rs_148100796	11 SubmittersRCV000120912 RCV000474583 RCV000665641 RCV001818291 RCV003925189
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)	SNV Germline	Chr16:89792505	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group A Fanconi anemia	Criteria Provided Conflicting Classifications	CA159238	rs_199967286	6 SubmittersRCV000120914 RCV001120561 RCV001239310
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)	SNV Germline	Chr16:89773277	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group A Fanconi anemia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA159260	rs_587778312	6 SubmittersRCV000120922 RCV000667865 RCV001243928 RCV004975281
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)	SNV Germline	Chr16:89771757	Conflicting classifications of pathogenicity	Fanconi anemia complementation group A not specified Fanconi anemia Condition: not provided	Criteria Provided Conflicting Classifications	CA159263	rs_367880372	7 SubmittersRCV001271604 RCV000120923 RCV000707539 RCV004998239
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)	SNV Germline	Chr16:89771728	Conflicting classifications of pathogenicity	not specified Fanconi anemia Fanconi anemia complementation group A Condition: not provided FANCA-related disorder	Criteria Provided Conflicting Classifications	CA159266	rs_56369086	8 SubmittersRCV000120924 RCV000233082 RCV001333235 RCV002225374 RCV003952596
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)	SNV Germline	Chr16:89767175	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group A Condition: not provided Fanconi anemia FANCA-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA159284	rs_370085403	7 SubmittersRCV000120931 RCV000668295 RCV000766439 RCV001447411 RCV003398726 RCV004975282
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)	SNV Germline	Chr16:89758581	Conflicting classifications of pathogenicity	not specified Fanconi anemia Fanconi anemia complementation group A Inborn genetic diseases Condition: not provided FANCA-related disorder	Criteria Provided Conflicting Classifications	CA159299	rs_140823801	8 SubmittersRCV000120936 RCV000862981 RCV001276514 RCV004975283 RCV003477505 RCV003975072
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)	SNV Germline	Chr16:89746670	Conflicting classifications of pathogenicity	not specified Fanconi anemia Condition: not provided Fanconi anemia complementation group A FANCA-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA159310	rs_61753269	12 SubmittersRCV000120940 RCV000474415 RCV002293419 RCV003444203 RCV003965014 RCV004619201
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)	SNV Germline	Chr16:89745061	Conflicting classifications of pathogenicity	not specified Fanconi anemia Hepatoblastoma FANCA-related disorder Fanconi anemia complementation group A Condition: not provided	Criteria Provided Conflicting Classifications	CA159313	rs_147017625	8 SubmittersRCV000120941 RCV000226225 RCV001843480 RCV003935154 RCV003147340 RCV003477506
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)	SNV Germline	Chr16:89745002	Conflicting classifications of pathogenicity	not specified Fanconi anemia Fanconi anemia complementation group A FANCA-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA332149	rs_143642304	12 SubmittersRCV000120942 RCV000204450 RCV001115378 RCV003952597 RCV003407512 RCV004975284
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln)	SNV Germline	Chr16:89745001	Conflicting classifications of pathogenicity	not specified Fanconi anemia Fanconi anemia complementation group A Condition: not provided FANCA-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA159319	rs_138013482	8 SubmittersRCV000120944 RCV000862979 RCV001274558 RCV003477508 RCV003975073 RCV004975285
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)	SNV Germline	Chr16:89811047	Conflicting classifications of pathogenicity	not specified Fanconi anemia Condition: not provided Fanconi anemia complementation group A	Criteria Provided Conflicting Classifications	CA159334	rs_147176389	5 SubmittersRCV000120950 RCV000537860 RCV003477509 RCV003144133
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)	SNV Germline	Chr16:89739285	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group A Fanconi anemia Condition: not provided FANCA-related disorder	Criteria Provided Conflicting Classifications	CA159343	rs_149775657	10 SubmittersRCV000120953 RCV000666660 RCV000824570 RCV003477510 RCV004742266
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)	SNV Germline	Chr16:89738893	Conflicting classifications of pathogenicity	not specified Fanconi anemia FANCA-related disorder Fanconi anemia complementation group A Condition: not provided	Criteria Provided Conflicting Classifications	CA248738	rs_17227403	17 SubmittersRCV000120955 RCV000226145 RCV003915205 RCV001115284 RCV001552904
NM_000135.4(FANCA):c.480G>A (p.Met160Ile)	SNV Germline	Chr16:89810749	Conflicting classifications of pathogenicity	not specified Fanconi anemia Condition: not provided Fanconi anemia complementation group A	Criteria Provided Conflicting Classifications	CA159359	rs_200603300	7 SubmittersRCV000120959 RCV000465739 RCV003237725 RCV004786379
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)	SNV Germline	Chr16:89808337	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group A Fanconi anemia Condition: not provided FANCA-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA159364	rs_587778323	8 SubmittersRCV000120961 RCV000672751 RCV002055335 RCV003477512 RCV004742267 RCV004975287
NM_000136.3(FANCC):c.1063G>C (p.Asp355His)	SNV Germline	Chr9:95117324	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia	Criteria Provided Conflicting Classifications	CA159384	rs_587778325	4 SubmittersRCV000120968 RCV000766565 RCV001009799 RCV001300842
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)	SNV Germline	Chr9:95111636	Conflicting classifications of pathogenicity	Condition: not provided not specified Fanconi anemia complementation group C Fanconi anemia complementation group A Hereditary cancer-predisposing syndrome Fanconi anemia	Criteria Provided Conflicting Classifications	CA159387	rs_41281202	11 SubmittersRCV000224016 RCV000120969 RCV000709083 RCV000988205 RCV000566496 RCV001082314
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg)	SNV Germline	Chr9:95107185	Conflicting classifications of pathogenicity	not specified Fanconi anemia Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group C	Criteria Provided Conflicting Classifications	CA332152	rs_201063698	10 SubmittersRCV000120972 RCV000205771 RCV001011455 RCV001310662 RCV001509574
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)	SNV Germline	Chr9:95249215	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia Fanconi anemia complementation group C Fanconi anemia complementation group A Malignant tumor of breast FANCC-related disorder	Criteria Provided Conflicting Classifications	CA159399	rs_1800361	24 SubmittersRCV000120974 RCV000513630 RCV000573438 RCV001083879 RCV001168031 RCV000988227 RCV001357504 RCV003891642
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	SNV Germline	Chr9:95150025	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group C Fanconi anemia complementation group A Fanconi anemia Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA247025	rs_1800365	27 SubmittersRCV000120978 RCV000124962 RCV000179716 RCV000667368 RCV000988215 RCV001083500 RCV001356570
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)	SNV Germline	Chr3:10062161	Conflicting classifications of pathogenicity	not specified Fanconi anemia Fanconi anemia complementation group D2 Condition: not provided Malignant tumor of breast FANCD2-related disorder	Criteria Provided Conflicting Classifications	CA159438	rs_147523071	14 SubmittersRCV000120987 RCV000459559 RCV000764454 RCV001541664 RCV001004843 RCV003415914
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)	SNV Germline	Chr6:35452597	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group E Fanconi anemia Condition: not provided	Criteria Provided Conflicting Classifications	CA159522	rs_552241929	6 SubmittersRCV000121005 RCV000687310 RCV002257437 RCV003237728
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)	SNV Germline	Chr6:35457944	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group E Exstrophy-epispadias complex Ovarian cancer	Criteria Provided Conflicting Classifications	CA159535	rs_139600847	6 SubmittersRCV000121010 RCV000689014 RCV003389394 RCV003153392
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser)	SNV Germline	Chr6:35458422	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group E	Criteria Provided Conflicting Classifications	CA159539	rs_141268133	4 SubmittersRCV000121012 RCV001153476
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg)	SNV Germline	Chr6:35458345	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group E Condition: not provided	Criteria Provided Conflicting Classifications	CA159545	rs_45524646	7 SubmittersRCV000121014 RCV000231935 RCV001194808
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)	SNV Germline	Chr6:35460568	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group E Ovarian cancer	Criteria Provided Conflicting Classifications	CA159554	rs_141551053	9 SubmittersRCV000121017 RCV000229190 RCV003153393
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn)	SNV Germline	Chr11:22625438	Conflicting classifications of pathogenicity	not specified Fanconi anemia Condition: not provided Fanconi anemia complementation group F	Criteria Provided Conflicting Classifications	CA159581	rs_61752920	10 SubmittersRCV000121028 RCV000232655 RCV000857633 RCV001094015
NM_022725.4(FANCF):c.728G>A (p.Gly243Glu)	SNV Germline	Chr11:22625083	Conflicting classifications of pathogenicity	not specified Fanconi anemia	Criteria Provided Conflicting Classifications	CA159584	rs_150216454	3 SubmittersRCV000121029 RCV000457324
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)	SNV Germline	Chr9:35079505	Conflicting classifications of pathogenicity	not specified Fanconi anemia Fanconi anemia complementation group G Condition: not provided	Criteria Provided Conflicting Classifications	CA159593	rs_35984312	7 SubmittersRCV000121032 RCV000227360 RCV001166630 RCV002262715
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg)	SNV Germline	Chr9:35075741	Conflicting classifications of pathogenicity	not specified Fanconi anemia Fanconi anemia complementation group G Condition: not provided Ovarian cancer	Criteria Provided Conflicting Classifications	CA159597	rs_141147618	6 SubmittersRCV000121034 RCV000630846 RCV001271366 RCV001507747 RCV003153395
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)	SNV Germline	Chr9:35078285	Conflicting classifications of pathogenicity	not specified Fanconi anemia Fanconi anemia complementation group G	Criteria Provided Conflicting Classifications	CA159610	rs_546023787	5 SubmittersRCV000121039 RCV000631014 RCV001166627
NM_005236.3(ERCC4):c.2017+1G>A	SNV Germline	Chr16:13944836	Likely pathogenic	not specified Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q	Criteria Provided Single Submitter	CA162991	rs_587777943	2 SubmittersRCV000122394 RCV005016423
NM_000135.4(FANCA):c.80-13C>T	SNV Germline	Chr16:89815999	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group A Fanconi anemia Condition: not provided	Criteria Provided Conflicting Classifications	CA162999	rs_189841793	7 SubmittersRCV000122402 RCV001120659 RCV001513153 RCV002055375
NM_000136.3(FANCC):c.166-2A>G	SNV Germline	Chr9:95247518	Pathogenic/Likely pathogenic	not specified Hereditary cancer-predisposing syndrome FANCC-related disorder Fanconi anemia Fanconi anemia complementation group C	Criteria Provided Multiple Submitters No Conflicts	CA163000	rs_587777945	6 SubmittersRCV000122403 RCV002399490 RCV003407527 RCV003522928 RCV001729399
NM_024675.4(PALB2):c.12T>C (p.Pro4=)	SNV Germline	Chr16:23641146	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA299688	rs_567706422	14 SubmittersRCV000123332 RCV000160826 RCV000212765 RCV000858740 RCV001121824
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)	SNV Germline	Chr16:23634909	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided PALB2-related disorder Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA332967	rs_148647206	9 SubmittersRCV000123333 RCV000215046 RCV000589758 RCV004739425 RCV002492444
NM_024675.4(PALB2):c.2087C>T (p.Thr696Met)	SNV Germline	Chr16:23630067	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA170045	rs_587780820	11 SubmittersRCV000123336 RCV000132543 RCV001030277 RCV004530058 RCV005016426 RCV003492552
NM_024675.4(PALB2):c.2571G>A (p.Leu857=)	SNV Germline	Chr16:23629219	Conflicting classifications of pathogenicity	Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA332973	rs_587780821	6 SubmittersRCV000123339 RCV000486288 RCV000560973 RCV001535717
NM_024675.4(PALB2):c.769G>A (p.Gly257Ser)	SNV Germline	Chr16:23635777	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 5 Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N PALB2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA194606	rs_587780824	9 SubmittersRCV000123344 RCV000165945 RCV003226206 RCV003492553 RCV005394457 RCV004530060 RCV004589611
NM_032043.3(BRIP1):c.1473+6A>G	SNV Germline	Chr17:61793591	Conflicting classifications of pathogenicity	Fanconi anemia complementation group J Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast Fanconi anemia complementation group J Ovarian cancer	Criteria Provided Conflicting Classifications	CA332986	rs_587780827	9 SubmittersRCV000123349 RCV000580346 RCV001618289 RCV001818297 RCV003315825 RCV000411067 RCV005430169
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 Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group J Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA294179	rs_587780828	12 SubmittersRCV000123350 RCV000130219 RCV000212313 RCV003483490 RCV003144134 RCV003477525 RCV004786386
NM_032043.3(BRIP1):c.2097+7G>A	SNV Germline	Chr17:61776394	Conflicting classifications of pathogenicity	Condition: not provided not specified Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Malignant tumor of breast Fanconi anemia complementation group J Familial cancer of breast Breast and/or ovarian cancer Ovarian cancer	Criteria Provided Conflicting Classifications	CA289756	rs_4988352	26 SubmittersRCV000123353 RCV000124038 RCV000412184 RCV000579602 RCV000990005 RCV001354110 RCV001079247 RCV001798408 RCV005430171
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)	SNV Germline	Chr17:61684004	Conflicting classifications of pathogenicity	Familial cancer of breast Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Hereditary breast ovarian cancer syndrome BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA187582	rs_188258913	13 SubmittersRCV000123357 RCV000163156 RCV001778741 RCV002272135 RCV001284118 RCV005359168 RCV004530061
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)	SNV Germline	Chr17:61683771	Conflicting classifications of pathogenicity	Fanconi anemia complementation group J Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia complementation group J Ovarian cancer Familial cancer of breast Condition: not provided BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA165900	rs_587780830	10 SubmittersRCV000123358 RCV000130186 RCV000442394 RCV004584610 RCV005430172 RCV003315827 RCV001284121 RCV004732691
NM_032043.3(BRIP1):c.612C>G (p.Ser204=)	SNV Germline	Chr17:61847116	Conflicting classifications of pathogenicity	Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Ovarian cancer	Criteria Provided Conflicting Classifications	CA332993	rs_587780832	7 SubmittersRCV000123362 RCV000410021 RCV000776533 RCV000603905 RCV003315828 RCV005430173
NM_032043.3(BRIP1):c.627+1G>A	SNV Germline	Chr17:61847100	Pathogenic/Likely pathogenic	Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA298834	rs_587780833	4 SubmittersRCV000123363 RCV000160322 RCV000223616
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)	SNV Germline	Chr17:61808607	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Fanconi anemia complementation group J not specified Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA298928	rs_138743097	14 SubmittersRCV000160362 RCV000123365 RCV000586716 RCV001125839 RCV002267867 RCV002225394 RCV003149846 RCV005359169
NM_058216.3(RAD51C):c.408G>A (p.Met136Ile)	SNV Germline	Chr17:58696696	Conflicting classifications of pathogenicity	Fanconi anemia complementation group O Hereditary cancer-predisposing syndrome RAD51C-related disorder Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3 Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA333000	rs_587780836	7 SubmittersRCV000123372 RCV000215144 RCV004530062 RCV001582597 RCV002466441 RCV005600699
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr)	SNV Germline	Chr17:58696811	Conflicting classifications of pathogenicity	Fanconi anemia complementation group O Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA333006	rs_587780838	15 SubmittersRCV000123375 RCV000160928 RCV000212941 RCV000709504 RCV000780670 RCV003467097 RCV005016427 RCV005600700
NM_058216.3(RAD51C):c.721G>A (p.Val241Met)	SNV Germline	Chr17:58709874	Conflicting classifications of pathogenicity	Fanconi anemia complementation group O Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3 not specified Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Breast and/or ovarian cancer Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA294419	rs_184033132	16 SubmittersRCV000123377 RCV000131648 RCV000212946 RCV001122912 RCV000781787 RCV002477324 RCV003492554 RCV005600701
NM_032043.3(BRIP1):c.380-17T>A	SNV Germline	Chr17:61849273	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA289740	rs_200050729	13 SubmittersRCV000124025 RCV000580079 RCV000679789 RCV001397865 RCV003149853 RCV005235028
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)	SNV Germline	Chr17:61683587	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J not specified Fanconi anemia complementation group J Familial cancer of breast Condition: not provided Familial cancer of breast BRIP1-related disorder Ovarian cancer Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA289745	rs_4987050	18 SubmittersRCV000124030 RCV000411782 RCV000212336 RCV001082541 RCV000679785 RCV000989977 RCV004732693 RCV005430177 RCV001798415
NM_032043.3(BRIP1):c.-30-3T>C	SNV Germline	Chr17:61861572	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group J Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA289748	rs_370728413	9 SubmittersRCV000124031 RCV001122188 RCV001689674 RCV000990046 RCV000580838
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)	SNV Germline	Chr17:61861504	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J not specified Fanconi anemia complementation group J Familial cancer of breast Breast and/or ovarian cancer Condition: not provided Familial cancer of breast Ovarian cancer	Criteria Provided Conflicting Classifications	CA289749	rs_45566938	14 SubmittersRCV000124032 RCV000410111 RCV000212296 RCV001086934 RCV001798416 RCV000588076 RCV003315841 RCV005430178
NM_032043.3(BRIP1):c.1629-11T>C	SNV Germline	Chr17:61781016	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group J Familial cancer of breast Familial cancer of breast Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Ovarian cancer	Criteria Provided Conflicting Classifications	CA289755	rs_375710640	9 SubmittersRCV000124036 RCV002055435 RCV003315843 RCV000383630 RCV000580125 RCV005430180
NM_000136.3(FANCC):c.672C>T (p.Asn224=)	SNV Germline	Chr9:95149937	Conflicting classifications of pathogenicity	not specified Fanconi anemia Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA290809	rs_150647141	8 SubmittersRCV000124963 RCV000227447 RCV000566669 RCV001165846 RCV001356398
NM_000136.3(FANCC):c.705C>T (p.Pro235=)	SNV Germline	Chr9:95135484	Conflicting classifications of pathogenicity	not specified Fanconi anemia Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C Condition: not provided Malignant tumor of breast FANCC-related disorder	Criteria Provided Conflicting Classifications	CA290812	rs_141828876	15 SubmittersRCV000124964 RCV000199490 RCV000564470 RCV001095300 RCV001195050 RCV001355936 RCV003975106
NM_000136.3(FANCC):c.1073-5C>T	SNV Germline	Chr9:95114715	Conflicting classifications of pathogenicity	not specified Fanconi anemia Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C	Criteria Provided Conflicting Classifications	CA290822	rs_375613884	4 SubmittersRCV000124968 RCV000380041 RCV000568936 RCV001095360
NM_058216.3(RAD51C):c.145+12T>G	SNV Germline	Chr17:58692800	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Malignant tumor of breast Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Condition: not provided Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA293026	rs_377297129	16 SubmittersRCV000127693 RCV000579441 RCV001354401 RCV000410695 RCV000411797 RCV001195010 RCV003149869
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter)	SNV Germline	Chr17:58724090	Pathogenic	Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O	Criteria Provided Multiple Submitters No Conflicts	CA163579	rs_587781287	11 SubmittersRCV000128973 RCV000501924 RCV000230603 RCV000483841 RCV005016428
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)	SNV Germline	Chr17:61859868	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Ovarian cancer Fanconi anemia complementation group J Familial cancer of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA163617	rs_587781292	11 SubmittersRCV000128992 RCV003315866 RCV005430181 RCV000196974 RCV001798433 RCV005055595 RCV000482088
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)	SNV Germline	Chr17:61683943	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J not specified Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast Ovarian cancer BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA163643	rs_45437094	19 SubmittersRCV000129008 RCV000590794 RCV001081667 RCV000410906 RCV001800423 RCV001355322 RCV003149886 RCV003315867 RCV005430182 RCV004532542
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)	SNV Germline	Chr17:61683897	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Familial cancer of breast Familial cancer of breast Familial ovarian cancer Condition: not provided not specified Fanconi anemia complementation group J Ovarian cancer	Criteria Provided Conflicting Classifications	CA163667	rs_373040333	11 SubmittersRCV000129015 RCV000197620 RCV003315868 RCV005359194 RCV000213740 RCV005055596 RCV005430183
NM_058216.3(RAD51C):c.80T>C (p.Leu27Pro)	SNV Germline	Chr17:58692723	Conflicting classifications of pathogenicity	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, 2	Criteria Provided Conflicting Classifications	CA163703	rs_587781309	8 SubmittersRCV000129034 RCV000552582 RCV004567075 RCV001555080 RCV005604781
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)	SNV Germline	Chr17:58703201	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Inherited ovarian cancer (without breast cancer) Condition: not provided RAD51C-related disorder Breast carcinoma Breast-ovarian cancer, familial, susceptibility to, 3	Criteria Provided Multiple Submitters No Conflicts	CA333162	rs_200293302	20 SubmittersRCV000576579 RCV000590531 RCV000129056 RCV000203684 RCV004691760 RCV000212943 RCV000778126 RCV001554248 RCV002288621
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)	SNV Germline	Chr17:61780325	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group J Familial cancer of breast Familial cancer of breast Malignant tumor of breast Fanconi anemia complementation group J Ovarian cancer Hereditary breast ovarian cancer syndrome BRIP1-associated familial cancer predisposition Fanconi anemia complementation group J	Criteria Provided Multiple Submitters No Conflicts	CA293947	rs_587781321	15 SubmittersRCV000129060 RCV000254651 RCV000228701 RCV003315870 RCV003387506 RCV005430184 RCV000589135 RCV003335111 RCV001781464
NM_032043.3(BRIP1):c.3025G>A (p.Gly1009Arg)	SNV Germline	Chr17:61684021	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J not specified	Criteria Provided Conflicting Classifications	CA163764	rs_587781328	4 SubmittersRCV000129073 RCV000636097 RCV003321509
NM_024675.4(PALB2):c.1697G>C (p.Arg566Pro)	SNV Germline	Chr16:23630457	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA163866	rs_144617793	7 SubmittersRCV000129134 RCV001775617 RCV000476315 RCV005394468
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 Familial ovarian cancer Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA163967	rs_587781383	15 SubmittersRCV000129215 RCV000167882 RCV000409379 RCV000588471 RCV001778747 RCV005600704 RCV001798436 RCV002509232 RCV005016431
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn)	SNV Germline	Chr17:61684098	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Ovarian cancer Fanconi anemia complementation group J Familial cancer of breast Condition: not provided Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA164119	rs_587781417	8 SubmittersRCV000129283 RCV003315873 RCV000412403 RCV005430185 RCV000636117 RCV001775619 RCV005359204
NM_007294.4(BRCA1):c.2119G>C (p.Gly707Arg)	SNV Germline	Chr17:43093412	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome 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	CA001397	rs_587781420	6 SubmittersRCV000129290 RCV005016433 RCV001214917 RCV001800426
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val)	SNV Germline	Chr17:61808562	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast Breast and/or ovarian cancer Ovarian cancer Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA164166	rs_587781425	12 SubmittersRCV000129307 RCV000485268 RCV000473432 RCV002288624 RCV003492588 RCV005430186
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)	SNV Germline	Chr13:32394865	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 Fanconi anemia complementation group D1 BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA026155	rs_587776476	11 SubmittersRCV000144220 RCV000129373 RCV000499802 RCV001353675 RCV001088631 RCV001114170 RCV004532550
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter)	SNV Germline	Chr17:58696790	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ovarian neoplasm Fanconi anemia complementation group O Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 3 Endometrial carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA294043	rs_587781490	9 SubmittersRCV000129454 RCV000212939 RCV000785447 RCV000648252 RCV001271006 RCV003467108 RCV003128148
NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala)	SNV Germline	Chr17:58720770	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA164765	rs_587781574	8 SubmittersRCV000129608 RCV000410493 RCV000986013 RCV000411492
NM_032043.3(BRIP1):c.2689A>G (p.Lys897Glu)	SNV Germline	Chr17:61686052	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA165061	rs_587781644	4 SubmittersRCV000129774 RCV000478765 RCV001088100
NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln)	SNV Germline	Chr17:61849151	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast	Criteria Provided Conflicting Classifications	CA165098	rs_61757643	6 SubmittersRCV000129791 RCV000424619 RCV000466396 RCV003387768
NM_032043.3(BRIP1):c.918+1G>A	SNV Germline	Chr17:61808466	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Ovarian cancer, susceptibility to, 1 Fanconi anemia complementation group J Familial cancer of breast Breast and/or ovarian cancer Familial ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA165105	rs_587781655	14 SubmittersRCV000129793 RCV000434292 RCV000472419 RCV005256567 RCV001781468 RCV003335113 RCV003492592 RCV005600715
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)	SNV Germline	Chr17:58703264	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O not specified Ovarian cancer Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 3 RAD51C-related disorder	Criteria Provided Conflicting Classifications	CA294121	rs_140804406	14 SubmittersRCV000129799 RCV000204512 RCV000212945 RCV000662365 RCV000781795 RCV003153419 RCV003492593 RCV003315883 RCV004734671
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)	SNV Germline	Chr17:61683809	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group J Familial cancer of breast Familial cancer of breast Condition: not provided Fanconi anemia complementation group J Ovarian cancer	Criteria Provided Conflicting Classifications	CA165144	rs_587781666	9 SubmittersRCV000129821 RCV000780068 RCV000200144 RCV003315884 RCV000758998 RCV005430187
NM_058216.3(RAD51C):c.563A>T (p.Lys188Met)	SNV Germline	Chr17:58696851	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA165187	rs_587781680	7 SubmittersRCV000129840 RCV000648258 RCV003105794 RCV001818306
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)	SNV Germline	Chr17:61799200	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J BRIP1-associated familial cancer predisposition Familial cancer of breast Ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA165277	rs_368796923	10 SubmittersRCV000129878 RCV000445256 RCV000701846 RCV000409609 RCV003335116 RCV000781179 RCV005430188
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)	SNV Germline	Chr17:61683395	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Familial cancer of breast Hereditary cancer not specified	Criteria Provided Conflicting Classifications	CA165328	rs_542698396	11 SubmittersRCV000129907 RCV000227303 RCV000657056 RCV000989972 RCV003492594 RCV004595931
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)	SNV Germline	Chr17:61849173	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA165590	rs_587781786	6 SubmittersRCV000130041 RCV000213568 RCV000699984 RCV003335119
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)	SNV Germline	Chr17:61693462	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Fanconi anemia complementation group J Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group J Ovarian cancer Neurodevelopmental delay Familial cancer of breast	Criteria Provided Conflicting Classifications	CA165626	rs_374334794	13 SubmittersRCV000130056 RCV000699539 RCV001194712 RCV001255230 RCV004760390 RCV005430189 RCV002273958 RCV003460909
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg)	SNV Germline	Chr13:32379396	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 BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025844	rs_587781800	11 SubmittersRCV000130065 RCV000410010 RCV000462799 RCV000487119 RCV001112819 RCV001193118 RCV004567103 RCV004804146
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 Hereditary breast ovarian cancer syndrome Endometrial carcinoma Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA165693	rs_587781818	11 SubmittersRCV000130094 RCV000226926 RCV000302799 RCV001030649 RCV001358211 RCV000842453 RCV001030271
NM_058216.3(RAD51C):c.537C>A (p.His179Gln)	SNV Germline	Chr17:58696825	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA165707	rs_372385738	8 SubmittersRCV000130100 RCV000462239 RCV000662674 RCV005417968 RCV003441750 RCV003315885
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser)	SNV Germline	Chr16:23635182	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA294158	rs_587781824	7 SubmittersRCV000130104 RCV000409652 RCV000212792 RCV001116859
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)	SNV Germline	Chr17:61808657	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Fanconi anemia complementation group J Familial cancer of breast not specified Hereditary cancer	Criteria Provided Conflicting Classifications	CA165876	rs_587781860	13 SubmittersRCV000130174 RCV000473070 RCV000484934 RCV000709557 RCV000990023 RCV003321513 RCV003492596
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)	SNV Germline	Chr17:61683748	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA166081	rs_587781923	10 SubmittersRCV000130274 RCV000546539 RCV000989980 RCV005055076 RCV001284122 RCV002267875
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)	SNV Germline	Chr16:23630398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA166193	rs_587781954	10 SubmittersRCV000130326 RCV000411835 RCV000481375 RCV000764051 RCV001798444
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)	SNV Germline	Chr17:61716002	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Fanconi anemia complementation group J Fanconi anemia complementation group J Familial cancer of breast Malignant tumor of breast Familial ovarian cancer not specified Ovarian cancer	Criteria Provided Conflicting Classifications	CA166286	rs_45468199	13 SubmittersRCV000130375 RCV000218503 RCV001030534 RCV000234009 RCV000410258 RCV003315890 RCV001356230 RCV005600722 RCV003320104 RCV005430192
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)	SNV Germline	Chr17:61808757	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided not specified Familial cancer of breast BRIP1-related disorder Ovarian cancer Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA166320	rs_150313156	11 SubmittersRCV000130394 RCV000200420 RCV000590600 RCV001290444 RCV003315892 RCV004532557 RCV005430195
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)	SNV Germline	Chr16:23614059	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast not specified Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N PALB2-related disorder	Criteria Provided Conflicting Classifications	CA166426	rs_138273800	18 SubmittersRCV000130431 RCV000204730 RCV000482622 RCV001355887 RCV001194140 RCV002505109 RCV003389456 RCV003444205 RCV004544294
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 Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA003629	rs_587782026	8 SubmittersRCV000130459 RCV000168345 RCV000481196 RCV000765356 RCV001076289
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 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Condition: not provided BRCA2-related disorder Familial cancer of breast 8 conditions	Criteria Provided Conflicting Classifications	CA025840	rs_373227180	15 SubmittersRCV000130462 RCV000356690 RCV000409083 RCV000233879 RCV000780004 RCV001775622 RCV004532561 RCV004567114 RCV005008035
NM_058216.3(RAD51C):c.405-1G>C	SNV Germline	Chr17:58696692	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3	Criteria Provided Multiple Submitters No Conflicts	CA333229	rs_587782036	7 SubmittersRCV000130492 RCV000204135 RCV000576619 RCV002291568 RCV003315894
NM_058216.3(RAD51C):c.968T>G (p.Leu323Trp)	SNV Germline	Chr17:58732486	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA166555	rs_587782045	7 SubmittersRCV000130508 RCV000475164 RCV000484566 RCV004567116
NM_032043.3(BRIP1):c.93+1G>T	SNV Germline	Chr17:61861446	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA166569	rs_587782047	10 SubmittersRCV000130514 RCV000223400 RCV000558720 RCV003335121
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 Malignant tumor of breast Fanconi anemia complementation group D1 Breast and/or ovarian cancer Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA010932	rs_371454630	12 SubmittersRCV000130560 RCV000195524 RCV000238792 RCV000500188 RCV001353620 RCV001112103 RCV001170455 RCV002227070 RCV004532563
NM_032043.3(BRIP1):c.380-5A>G	SNV Germline	Chr17:61849261	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast Condition: not provided BRIP1-related disorder not specified	Criteria Provided Conflicting Classifications	CA166877	rs_587782131	11 SubmittersRCV000130674 RCV000547580 RCV000990037 RCV000985642 RCV004532564 RCV005229965
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 not specified BRCA1-related cancer predisposition Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA001739	rs_587782134	9 SubmittersRCV000130679 RCV000500522 RCV000793766 RCV004700443 RCV004804155 RCV005016444
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)	SNV Germline	Chr16:23607907	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast and/or ovarian cancer not specified Ovarian cancer	Criteria Provided Conflicting Classifications	CA166991	rs_201657283	12 SubmittersRCV000130728 RCV000226292 RCV000483048 RCV000764042 RCV003149901 RCV001194142 RCV003153422
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)	SNV Germline	Chr17:61793628	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group J Familial cancer of breast not specified Familial cancer of breast BRIP1-related disorder Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group J Fanconi anemia complementation group J Ovarian cancer	Criteria Provided Conflicting Classifications	CA294222	rs_200062099	16 SubmittersRCV000130729 RCV000212311 RCV000469846 RCV000780054 RCV003315897 RCV004732695 RCV001030540 RCV001124864 RCV005430196
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)	SNV Germline	Chr16:23635989	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 not specified	Criteria Provided Conflicting Classifications	CA167050	rs_587782164	12 SubmittersRCV000130756 RCV000197454 RCV000588642 RCV003315411 RCV002478396 RCV004595933
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 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4	Criteria Provided Conflicting Classifications	CA003539	rs_145758886	8 SubmittersRCV000130773 RCV000210112 RCV000637444 RCV005016446
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 PALB2-related disorder Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA294240	rs_146377793	17 SubmittersRCV000130835 RCV000203792 RCV000590502 RCV000855603 RCV002225436 RCV004739448 RCV005016447
NM_024675.4(PALB2):c.734C>T (p.Ala245Val)	SNV Germline	Chr16:23635812	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA167345	rs_571063157	12 SubmittersRCV000130900 RCV000483902 RCV000200032 RCV001030168 RCV003315412 RCV005394483
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)	SNV Germline	Chr17:58695120	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group O not specified Breast-ovarian cancer, familial, susceptibility to, 3 Hereditary cancer Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA333232	rs_370212314	11 SubmittersRCV000130920 RCV000236213 RCV000197831 RCV001251311 RCV003462005 RCV003492606 RCV005600726
NM_032043.3(BRIP1):c.2863A>C (p.Asn955His)	SNV Germline	Chr17:61685878	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J not specified Fanconi anemia complementation group J BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA167441	rs_587782244	10 SubmittersRCV000130948 RCV000367894 RCV000464105 RCV001192822 RCV002254681 RCV004532567
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)	SNV Germline	Chr17:61780984	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast BRIP1-related disorder not specified	Criteria Provided Conflicting Classifications	CA167467	rs_587782254	8 SubmittersRCV000130967 RCV000479209 RCV000636069 RCV003462006 RCV004528857 RCV003479016
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 not specified Fanconi anemia complementation group J Malignant tumor of breast Hereditary breast ovarian cancer syndrome Familial cancer of breast Ovarian cancer BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA167682	rs_141055990	17 SubmittersRCV000131157 RCV000220964 RCV000231925 RCV000781177 RCV000411077 RCV001356435 RCV002225442 RCV003315902 RCV005430197 RCV004732697
NM_058216.3(RAD51C):c.578G>A (p.Arg193Gln)	SNV Germline	Chr17:58703202	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Condition: not provided	Criteria Provided Conflicting Classifications	CA167874	rs_587782332	5 SubmittersRCV000131254 RCV000461701 RCV003114285
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)	SNV Germline	Chr17:61716043	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Fanconi anemia complementation group J Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 1 Ovarian cancer Familial cancer of breast Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA294369	rs_574552037	17 SubmittersRCV000131417 RCV000205848 RCV000254652 RCV000588697 RCV001270930 RCV002272137 RCV003155923 RCV003335124 RCV005359265
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)	SNV Germline	Chr17:61685976	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast Ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA168171	rs_587782410	15 SubmittersRCV000216847 RCV000131449 RCV000588116 RCV000410978 RCV002288648 RCV000468535 RCV005430200
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr)	SNV Germline	Chr17:61857138	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Familial cancer of breast Familial ovarian cancer Fanconi anemia complementation group J Ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA168226	rs_587782427	7 SubmittersRCV000131481 RCV000460063 RCV005359270 RCV005430201 RCV003315907
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 Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided See cases Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA003651	rs_587782432	12 SubmittersRCV000131490 RCV000533729 RCV001076304 RCV000985444 RCV002251996 RCV005016450 RCV005359271
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 Breast-ovarian cancer, familial, susceptibility to, 5 PALB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA168247	rs_180177110	26 SubmittersRCV000131502 RCV000236519 RCV000466579 RCV000824730 RCV001264577 RCV001781472 RCV003162588 RCV003492624 RCV004597749 RCV004739453
NM_032043.3(BRIP1):c.317G>A (p.Arg106His)	SNV Germline	Chr17:61857120	Conflicting classifications of pathogenicity	Fanconi anemia complementation group J Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group J Ovarian cancer Familial cancer of breast Breast and/or ovarian cancer BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA168409	rs_143615668	14 SubmittersRCV001082225 RCV000131589 RCV000588637 RCV000220020 RCV002225445 RCV005430202 RCV003315912 RCV003492626 RCV004532572
NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro)	SNV Germline	Chr16:23607894	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 5 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA168427	rs_149194681	12 SubmittersRCV000131597 RCV000204289 RCV000235261 RCV001818326 RCV003315413 RCV005394489
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)	SNV Germline	Chr17:61784279	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Fanconi anemia complementation group J Familial cancer of breast Familial cancer of breast Fanconi anemia complementation group J Ovarian cancer	Criteria Provided Conflicting Classifications	CA168446	rs_4988349	12 SubmittersRCV000131607 RCV000222534 RCV000781166 RCV000465039 RCV002288649 RCV005430203
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu)	SNV Germline	Chr17:61849151	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group J Familial cancer of breast Familial cancer of breast Fanconi anemia complementation group J Ovarian cancer not specified	Criteria Provided Conflicting Classifications	CA168512	rs_61757643	8 SubmittersRCV000131634 RCV001559562 RCV000231093 RCV003315913 RCV005430204 RCV001174711
NM_058216.3(RAD51C):c.835G>C (p.Ala279Pro)	SNV Germline	Chr17:58709988	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 RAD51C-related disorder	Criteria Provided Conflicting Classifications	CA168535	rs_587782507	6 SubmittersRCV000131650 RCV000168079 RCV003467178 RCV004532573
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)	SNV Germline	Chr16:23607918	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA168538	rs_142132127	23 SubmittersRCV000131652 RCV000235868 RCV000410212 RCV000657014 RCV001294230 RCV002478400 RCV005359278 RCV005411346
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)	SNV Germline	Chr13:32363244	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 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA025420	rs_587782519	11 SubmittersRCV000239323 RCV000131690 RCV000168172 RCV001114096 RCV000724545 RCV000781102 RCV003462020
NM_032043.3(BRIP1):c.2542C>A (p.Arg848Ser)	SNV Germline	Chr17:61693463	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA294430	rs_45572934	3 SubmittersRCV000131711 RCV000212326 RCV001220332
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)	SNV Germline	Chr17:58692740	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 3 Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Inherited ovarian cancer (without breast cancer)	Criteria Provided Multiple Submitters No Conflicts	CA294435	rs_587782528	14 SubmittersRCV000212932 RCV000131716 RCV000410098 RCV000589795 RCV000196217 RCV002505114 RCV004808593
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 Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Breast and/or ovarian cancer not specified Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA012149	rs_587782535	15 SubmittersRCV000131739 RCV000198082 RCV000586148 RCV001535543 RCV001170456 RCV003321517 RCV003493458
NM_032043.3(BRIP1):c.2576-1G>A	SNV Germline	Chr17:61686166	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Familial cancer of breast Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA168685	rs_587782539	5 SubmittersRCV000131744 RCV000763016 RCV003335125
NM_032043.3(BRIP1):c.2380-3T>A	SNV Germline	Chr17:61716066	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA168696	rs_587782542	2 SubmittersRCV000131750 RCV000701258
NM_032043.3(BRIP1):c.3508C>G (p.Leu1170Val)	SNV Germline	Chr17:61683538	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA168724	rs_587782552	3 SubmittersRCV000131766 RCV000706879 RCV001030463
NM_058216.3(RAD51C):c.1090A>G (p.Ser364Gly)	SNV Germline	Chr17:58734181	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group O Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Premature ovarian failure Breast-ovarian cancer, familial, susceptibility to, 3 Familial ovarian cancer	Criteria Provided Conflicting Classifications	CA168757	rs_587782565	8 SubmittersRCV000131788 RCV000482155 RCV000232947 RCV005016452 RCV001270237 RCV003462023 RCV005600740
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 Breast-ovarian cancer, familial, susceptibility to, 5 Condition: not provided PALB2-related disorder Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N	Criteria Provided Multiple Submitters No Conflicts	CA168760	rs_587782566	14 SubmittersRCV000131789 RCV000526519 RCV001824643 RCV005359282 RCV004998280 RCV004739459 RCV004796031
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 Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA026176	rs_587782568	8 SubmittersRCV000131791 RCV000483383 RCV000657154 RCV001110139 RCV001110138 RCV001082356
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)	SNV Germline	Chr17:61743015	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J Ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA168781	rs_587782574	7 SubmittersRCV000131801 RCV003315916 RCV000519624 RCV000703456 RCV005430205
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser)	SNV Germline	Chr16:23629233	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA168790	rs_587782579	10 SubmittersRCV000131807 RCV000230627 RCV000483722 RCV001800443 RCV002478401
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)	SNV Germline	Chr17:61685839	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast	Criteria Provided Conflicting Classifications	CA294472	rs_587782679	6 SubmittersRCV000132105 RCV000470512 RCV000989989
NM_058216.3(RAD51C):c.904+5G>T	SNV Germline	Chr17:58720817	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 3 Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Condition: not provided Hereditary site-specific ovarian cancer syndrome Breast and/or ovarian cancer Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 RAD51C-related disorder Familial ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA169350	rs_587782702	21 SubmittersRCV000007225 RCV000132144 RCV000225845 RCV000484863 RCV001171471 RCV001798459 RCV005016455 RCV004544303 RCV005600742
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 Fanconi anemia, complementation group S Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA001902	rs_587782721	6 SubmittersRCV000132210 RCV000814762 RCV005359294 RCV004772844
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 Breast-ovarian cancer, familial, susceptibility to, 2 not specified Fanconi anemia complementation group D1 Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA024540	rs_576279166	12 SubmittersRCV000132216 RCV000203848 RCV000410842 RCV000479638 RCV000353391 RCV001284584 RCV005365039
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser)	SNV Germline	Chr17:61857111	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast not specified BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA169463	rs_587782734	10 SubmittersRCV000132232 RCV000213770 RCV000687515 RCV000990039 RCV002267884 RCV004532579
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)	SNV Germline	Chr17:58696719	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Carcinoma of colon Premature ovarian insufficiency RAD51C-related disorder Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O not specified	Criteria Provided Conflicting Classifications	CA333284	rs_28363307	20 SubmittersRCV000132278 RCV000204997 RCV000410651 RCV001354887 RCV000766173 RCV004532581 RCV000235203 RCV000765376 RCV002465533
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 Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA003840	rs_147519994	9 SubmittersRCV000132317 RCV000229852 RCV000780992 RCV003998142 RCV005016457 RCV002286705
NM_032043.3(BRIP1):c.3064G>A (p.Glu1022Lys)	SNV Germline	Chr17:61683982	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Malignant tumor of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA169715	rs_587782808	5 SubmittersRCV000132368 RCV000461152 RCV001357266 RCV001775628
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)	SNV Germline	Chr17:58703325	Pathogenic	Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Fanconi anemia complementation group O Malignant tumor of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3	Criteria Provided Multiple Submitters No Conflicts	CA169763	rs_587782818	8 SubmittersRCV000132392 RCV000763015 RCV000458376 RCV001358380 RCV004696853 RCV003467194
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 Condition: not provided Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA001263	rs_587782843	8 SubmittersRCV000132437 RCV000144221 RCV000816497 RCV001290528 RCV004998287 RCV005365040
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)	SNV Germline	Chr17:61847178	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Familial cancer of breast Condition: not provided not specified Fanconi anemia complementation group J Familial ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Familial cancer of breast BRIP1-related disorder Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group J Ovarian cancer	Criteria Provided Conflicting Classifications	CA294540	rs_201047375	23 SubmittersRCV000132540 RCV000168177 RCV000212302 RCV001192824 RCV001196849 RCV005600746 RCV005623307 RCV001358268 RCV003315923 RCV004732700 RCV005251079 RCV005430209
NM_024675.4(PALB2):c.2834+1G>T	SNV Germline	Chr16:23624008	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N	Criteria Provided Multiple Submitters No Conflicts	CA294560	rs_587776419	9 SubmittersRCV000133481 RCV000567638 RCV000411304 RCV000763377
NM_024675.4(PALB2):c.48G>A (p.Lys16=)	SNV Germline	Chr16:23641110	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N	Criteria Provided Multiple Submitters No Conflicts	CA294568	rs_587776405	8 SubmittersRCV000133492 RCV000566830 RCV001030105 RCV004796039
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 Fanconi anemia, complementation group S Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA001564	rs_587776482	9 SubmittersRCV000144203 RCV000471903 RCV000509839 RCV000781014 RCV005359308
NM_000135.4(FANCA):c.3066+1G>T	SNV Germline	Chr16:89752137	Pathogenic/Likely pathogenic	Fanconi anemia complementation group A Fanconi anemia	Criteria Provided Multiple Submitters No Conflicts	CA270800	rs_587783028	4 SubmittersRCV000144483 RCV003522940
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala)	SNV Germline	Chr7:152648872	Conflicting classifications of pathogenicity	not specified Condition: not provided Fanconi anemia complementation group U Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA300477	rs_56103026	6 SubmittersRCV000161109 RCV000726016 RCV000988015 RCV001024935
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr)	SNV Germline	Chr7:152648889	Conflicting classifications of pathogenicity	Fanconi anemia complementation group U Condition: not provided Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA300475	rs_149099078	7 SubmittersRCV000765951 RCV000767011 RCV001024734 RCV001818361
NM_000136.3(FANCC):c.1509G>A (p.Thr503=)	SNV Germline	Chr9:95107090	Conflicting classifications of pathogenicity	not specified Fanconi anemia Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C FANCC-related disorder	Criteria Provided Conflicting Classifications	CA299226	rs_144278080	9 SubmittersRCV000160504 RCV000198398 RCV000571952 RCV001167956 RCV003952799
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys)	SNV Germline	Chr9:95111543	Conflicting classifications of pathogenicity	Condition: not provided Fanconi anemia Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA299184	rs_140687953	11 SubmittersRCV000160486 RCV000477242 RCV000570128 RCV001273988 RCV001358089
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)	SNV Germline	Chr9:95135372	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C not specified Fanconi anemia Malignant tumor of breast Hereditary cancer	Criteria Provided Conflicting Classifications	CA299169	rs_143181565	9 SubmittersRCV000160481 RCV000571755 RCV000709088 RCV001194155 RCV001085038 RCV001355168 RCV003492652
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg)	SNV Germline	Chr9:95135397	Conflicting classifications of pathogenicity	Fanconi anemia Condition: not provided Malignant tumor of breast not specified Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C	Criteria Provided Conflicting Classifications	CA299160	rs_730881717	9 SubmittersRCV000206295 RCV000586258 RCV001354181 RCV001549275 RCV002415701 RCV002498797
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)	SNV Germline	Chr9:95150055	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia Fanconi anemia complementation group A Fanconi anemia complementation group C not specified	Criteria Provided Conflicting Classifications	CA299145	rs_370346767	10 SubmittersRCV000160473 RCV000564307 RCV000470152 RCV000988216 RCV002492634 RCV002271426
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)	SNV Germline	Chr9:95240675	Pathogenic/Likely pathogenic	Condition: not provided Fanconi anemia Fanconi anemia complementation group C Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA299218	rs_730881731	6 SubmittersRCV000160499 RCV000472455 RCV000781350 RCV004019942
NM_000136.3(FANCC):c.239T>C (p.Ile80Thr)	SNV Germline	Chr9:95247443	Conflicting classifications of pathogenicity	Condition: not provided Fanconi anemia Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C	Criteria Provided Conflicting Classifications	CA299212	rs_4647419	5 SubmittersRCV000160497 RCV001831983 RCV002426792 RCV002484995
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys)	SNV Germline	Chr9:95249165	Conflicting classifications of pathogenicity	Condition: not provided Fanconi anemia complementation group C Fanconi anemia complementation group A Fanconi anemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA299206	rs_374836770	9 SubmittersRCV000160495 RCV000709096 RCV000988226 RCV002256090 RCV002372044
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)	SNV Germline	Chr16:23603616	Conflicting classifications of pathogenicity	Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Carcinoma of colon not specified Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA299753	rs_730881894	12 SubmittersRCV000232726 RCV000589198 RCV000570480 RCV001030415 RCV000855602 RCV002492638
NM_024675.4(PALB2):c.2834+1G>A	SNV Germline	Chr16:23624008	Pathogenic/Likely pathogenic	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Malignant tumor of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA299740	rs_587776419	9 SubmittersRCV000160847 RCV000635960 RCV001016726 RCV001268941 RCV002478488
NM_024675.4(PALB2):c.2699C>T (p.Ala900Val)	SNV Germline	Chr16:23626285	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA299734	rs_730881890	7 SubmittersRCV000160844 RCV000216145 RCV000555792 RCV002485001 RCV005394561
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)	SNV Germline	Chr16:23630026	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N PALB2-related disorder	Criteria Provided Conflicting Classifications	CA299722	rs_730881887	12 SubmittersRCV000160838 RCV000232377 RCV000569204 RCV000780572 RCV002485000 RCV004535048
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn)	SNV Germline	Chr16:23630134	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA299716	rs_730881885	6 SubmittersRCV000160836 RCV000217309 RCV000548729 RCV002505195
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)	SNV Germline	Chr16:23630430	Pathogenic/Likely pathogenic	Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome PALB2-related disorder Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA299691	rs_730881876	11 SubmittersRCV000160827 RCV001238865 RCV003155926 RCV004724950 RCV001781504 RCV000771400
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)	SNV Germline	Chr16:23634936	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Carcinoma of colon Fanconi anemia complementation group N PALB2-related disorder	Criteria Provided Conflicting Classifications	CA299796	rs_142103232	14 SubmittersRCV000160871 RCV000168207 RCV000220923 RCV001030240 RCV001121722 RCV004535051
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 Condition: not provided Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA185966	rs_75023630	14 SubmittersRCV000160870 RCV000197379 RCV000200991 RCV000368837 RCV001030650 RCV000858743 RCV001356483
NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro)	SNV Germline	Chr16:23635075	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast PALB2-related disorder	Criteria Provided Conflicting Classifications	CA299793	rs_577969558	7 SubmittersRCV000160869 RCV000216241 RCV000635626 RCV002485002 RCV004535050
NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala)	SNV Germline	Chr16:23635390	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Familial cancer of breast	Criteria Provided Conflicting Classifications	CA299787	rs_148102335	6 SubmittersRCV000160867 RCV000773131 RCV002492639 RCV000528086
NM_024675.4(PALB2):c.212-2A>G	SNV Germline	Chr16:23636336	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N Fanconi anemia complementation group N PALB2-related disorder Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA299700	rs_730881879	13 SubmittersRCV000160830 RCV000206312 RCV000213220 RCV002498799 RCV001781505 RCV004739509 RCV004800300
NM_024675.4(PALB2):c.109-2A>G	SNV Germline	Chr16:23637954	Pathogenic/Likely pathogenic	Condition: not provided Fanconi anemia complementation group N Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA299762	rs_730881897	9 SubmittersRCV000160858 RCV005016482 RCV000572657 RCV000803061
NM_007294.4(BRCA1):c.5186T>A (p.Leu1729Gln)	SNV Germline	Chr17:43063340	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA003330	rs_730881496	9 SubmittersRCV000160000 RCV000165263 RCV000411989 RCV001223270 RCV005365048
NM_007294.4(BRCA1):c.2312T>C (p.Leu771Ser)	SNV Germline	Chr17:43093219	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 Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S not specified BRCA1-related disorder	Criteria Provided Conflicting Classifications	CA001543	rs_730881481	11 SubmittersRCV000163092 RCV000159967 RCV001061346 RCV003998432 RCV005359351 RCV003479028 RCV004758657
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly)	SNV Germline	Chr17:43094272	Conflicting classifications of pathogenicity	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 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 not specified BRCA1-related cancer predisposition Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA000831	rs_730881442	12 SubmittersRCV000159846 RCV000409308 RCV000204508 RCV000214615 RCV000515362 RCV000779906 RCV004804679 RCV005359348
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 Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S not specified	Criteria Provided Conflicting Classifications	CA001450	rs_80356967	9 SubmittersRCV000564950 RCV000590511 RCV001072676 RCV001371073 RCV005359350 RCV005016478 RCV005237594

NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln)

SNV
Germline

Chr15:89315319

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA251642

rs_121918163

4 SubmittersRCV000001023 RCV005089139

NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)

SNV
Germline

Chr16:23634893

Pathogenic/Likely pathogenic

Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA251717

rs_118203997

13 SubmittersRCV000001302 RCV000217204 RCV000235772 RCV000476387 RCV005053882

NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)

SNV
Germline

Chr16:23603471

Pathogenic/Likely pathogenic

Fanconi anemia complementation group N
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Inherited breast cancer and ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA151250

rs_118203998

25 SubmittersRCV000001304 RCV000114634 RCV000121742 RCV000129158 RCV000212830 RCV001355428 RCV004528063 RCV005053883 RCV005430457 RCV005623061

NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)

SNV
Germline

Chr16:23623003

Pathogenic

Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA164468

rs_118203999

9 SubmittersRCV000001306 RCV000129469 RCV000662710 RCV000657596 RCV005053884

NM_000135.4(FANCA):c.513G>A (p.Trp171Ter)

SNV
Germline

Chr16:89810716

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA252781

rs_121907930

1 SubmittersRCV000003616

NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)

SNV
Germline

Chr17:61859862

Conflicting classifications of pathogenicity

Breast cancer, early-onset
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Condition: not provided
BRIP1-related disorder
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA117038

rs_28903098

31 SubmittersRCV000005002 RCV000116124 RCV000200979 RCV000199377 RCV000409748 RCV000587908 RCV000778130 RCV000990044 RCV001090025 RCV003149563 RCV005089172 RCV005430106

NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)

SNV
Germline

Chr17:61716051

Pathogenic

Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia
Esophageal atresia/tracheoesophageal fistula
Familial cancer of breast
Fanconi anemia complementation group J
Breast cancer, early-onset
BRIP1-related disorder
Familial cancer of breast
BRIP1-related disorder
Fanconi anemia complementation group J
Malignant tumor of breast
Breast and/or ovarian cancer
Ovarian cancer
Gastric cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Multiple Submitters
No Conflicts

CA253268

rs_137852986

43 SubmittersRCV000005004 RCV000116139 RCV000212324 RCV000205436 RCV000312325 RCV000515368 RCV000504276 RCV000778127 RCV000989994 RCV001535465 RCV001355458 RCV003149564 RCV003155909 RCV003162209 RCV005246591 RCV005252666

NM_022725.4(FANCF):c.16C>T (p.Gln6Ter)

SNV
Germline

Chr11:22625795

Pathogenic

Fanconi anemia complementation group F

No Assertion Criteria Provided

CA253844

rs_104894221

2 SubmittersRCV000006714

NM_022725.4(FANCF):c.327C>G (p.Tyr109Ter)

SNV
Germline

Chr11:22625484

Pathogenic

Fanconi anemia complementation group F

No Assertion Criteria Provided

CA253847

rs_104894222

2 SubmittersRCV000006716

NM_004629.2(FANCG):c.313G>T (p.Glu105Ter)

SNV
Germline

Chr9:35078338

Pathogenic

Fanconi anemia complementation group G
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253925

rs_121434425

9 SubmittersRCV000007104 RCV000706520 RCV001091823

NM_004629.2(FANCG):c.307+1G>C

SNV
Germline

Chr9:35078604

Pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA340604

rs_200479612

8 SubmittersRCV000007106 RCV001037690

NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter)

SNV
Germline

Chr9:35076442

Pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA253928

rs_121434426

5 SubmittersRCV000007107 RCV000791560

NM_004629.2(FANCG):c.925-2A>G

SNV
Germline

Chr9:35076585

Pathogenic

Fanconi anemia complementation group G

No Assertion Criteria Provided

CA340605

rs_397507561

2 SubmittersRCV000007108

NM_004629.2(FANCG):c.1480+1G>C

SNV
Germline

Chr9:35075278

Pathogenic

Fanconi anemia complementation group G
Fanconi anemia
FANCG-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340606

rs_149616199

11 SubmittersRCV000007109 RCV000630837 RCV004748504 RCV001564939

NM_058216.3(RAD51C):c.773G>A (p.Arg258His)

SNV
Germline

Chr17:58709926

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA168628

rs_267606997

16 SubmittersRCV000007224 RCV000131703 RCV000506412 RCV003315500 RCV001194260 RCV005394130 RCV005600615

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 SubmittersRCV000007226 RCV001195016 RCV001797586 RCV003507247

NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)

SNV
Germline

Chr17:58696702

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA118528

rs_267606999

13 SubmittersRCV000007227 RCV000129800 RCV000648269 RCV000662981 RCV001195017 RCV005600616

NM_021922.3(FANCE):c.355C>T (p.Gln119Ter)

SNV
Germline

Chr6:35455853

Pathogenic

Fanconi anemia complementation group E

Criteria Provided
Multiple Submitters
No Conflicts

CA254528

rs_121434505

5 SubmittersRCV000009247

NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)

SNV
Germline

Chr6:35455919

Pathogenic/Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Multiple Submitters
No Conflicts

CA254531

rs_121434506

7 SubmittersRCV000009248

NM_021922.3(FANCE):c.1114-8G>A

SNV
Germline

Chr6:35459323

Pathogenic/Likely pathogenic

Fanconi anemia complementation group E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10575503

rs_878854342

6 SubmittersRCV000009249 RCV003884334

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 SubmittersRCV000009934 RCV000113889 RCV000236578 RCV001380789

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 SubmittersRCV000009935 RCV000044460 RCV000113326 RCV000571951 RCV001530923 RCV003473074

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 breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025134

rs_80358979

11 SubmittersRCV000009936 RCV000113772 RCV000478444 RCV001290186 RCV000509658

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
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
BRCA2-related cancer predisposition
Cancer or benign tumor

Reviewed By Expert Panel

CA026028

rs_80359180

24 SubmittersRCV000009941 RCV000077463 RCV000131052 RCV000210196 RCV000257912 RCV000235644 RCV001357808 RCV003460449 RCV004802932 RCV005624682

NM_000059.4(BRCA2):c.631+1G>A

SNV
Germline

Chr13:32326614

Pathogenic

Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA023848

rs_81002897

11 SubmittersRCV000009942 RCV000044895 RCV000131851 RCV000113913 RCV000985563 RCV001310166

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 breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Fanconi anemia
Malignant tumor of breast
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA023852

rs_81002899

24 SubmittersRCV000009943 RCV000031615 RCV000044897 RCV000195357 RCV000129071 RCV000769680 RCV000826135 RCV001353557 RCV003147279 RCV004802933

NM_001018113.3(FANCB):c.1496+5G>A

SNV
Germline

ChrX:14850500

Pathogenic

Fanconi anemia complementation group B

No Assertion Criteria Provided

CA913191136

rs_1569085810

2 SubmittersRCV000011617

NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)

SNV
Germline

Chr3:10090315

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D2
Inborn genetic diseases
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA256193

rs_121917786

6 SubmittersRCV000012818 RCV001265744 RCV002512995

NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)

SNV
Germline

Chr3:10043065

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA256197

rs_121917787

7 SubmittersRCV000809924 RCV000012820

NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter)

SNV
Germline

Chr3:10043119

Pathogenic

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA256201

rs_121917788

4 SubmittersRCV000012821 RCV003522920

NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)

SNV
Germline

Chr9:95101723

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
FANCC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA284829

rs_104886458

16 SubmittersRCV000012823 RCV000058925 RCV001221431 RCV002399319 RCV003421917

NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)

SNV
Germline

Chr9:95150056

Pathogenic

Fanconi anemia complementation group C
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia
Malignant tumor of breast
FANCC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA287223

rs_121917783

13 SubmittersRCV000012824 RCV000115356 RCV000568180 RCV000471314 RCV001356657 RCV004748517

NM_000136.3(FANCC):c.456+4A>T

SNV
Germline

Chr9:95172033

Pathogenic

Fanconi anemia complementation group C
Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
FANCC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA287219

rs_104886456

23 SubmittersRCV000012825 RCV000115354 RCV000197192 RCV000562912 RCV001358012 RCV004748518

NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)

SNV
Germline

Chr9:95249255

Pathogenic

Fanconi anemia complementation group C
Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
FANCC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA287210

rs_121917784

13 SubmittersRCV000012826 RCV000115351 RCV000476519 RCV001021181 RCV004748519

NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)

SNV
Germline

Chr9:95101742

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA284826

rs_104886457

20 SubmittersRCV000012827 RCV000058924 RCV000205197 RCV000572840

NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg)

SNV
Germline

Chr9:95107112

Pathogenic

Fanconi anemia complementation group C

No Assertion Criteria Provided

CA256207

rs_121917785

1 SubmittersRCV000012830

NM_000136.3(FANCC):c.165+1G>T

SNV
Germline

Chr9:95249126

Pathogenic

Fanconi anemia complementation group C
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA256210

rs_794726668

9 SubmittersRCV000012831 RCV001221363 RCV001588811

NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)

SNV
Germline

Chr16:13947991

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
not specified
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
XFE progeroid syndrome
Condition: not provided
Breast carcinoma
Hutchinson-Gilford syndrome
Carcinoma of pancreas
Fanconi anemia complementation group Q
ERCC4-related disorder
Fanconi anemia complementation group Q
XFE progeroid syndrome
Xeroderma pigmentosum, group F
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA126686

rs_121913049

24 SubmittersRCV000018048 RCV000120808 RCV000467658 RCV000766208 RCV000415873 RCV001262417 RCV001034542 RCV001391196 RCV001787804 RCV003924841 RCV000768209 RCV002257360

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
Breast carcinoma
Familial cancer of breast
Breast neoplasm
Ovarian neoplasm
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA001182

rs_28897672

61 SubmittersRCV000019229 RCV000047597 RCV000159935 RCV000131902 RCV000415051 RCV000239114 RCV000412714 RCV000785199 RCV005003390 RCV001270967 RCV004802937

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
Breast neoplasm
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer
Ovarian cancer
Ovarian neoplasm
Inherited breast cancer and ovarian cancer
Gastric cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Ovarian carcinoma
Malignant tumor of urinary bladder
BRCA1-related disorder
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA002305

rs_62625308

48 SubmittersRCV000019240 RCV000048251 RCV000148389 RCV000131818 RCV000239343 RCV000159978 RCV000735444 RCV000677815 RCV000785373 RCV004808551 RCV003162256 RCV005016279 RCV001642230 RCV003332084 RCV004554605 RCV004802939

NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)

SNV
Germline

Chr17:43082434

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
not specified
BRCA1-related disorder
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Malignant tumor of breast
Inherited breast cancer and ovarian cancer
BRCA1-related cancer predisposition
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Reviewed By Expert Panel

CA002769

rs_41293455

50 SubmittersRCV000048523 RCV000235131 RCV000159989 RCV000019244 RCV000735445 RCV000131880 RCV000239083 RCV005249992 RCV000763000 RCV001353404 RCV005252689 RCV004802942 RCV005357149

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
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
BRCA1-related disorder
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA001398

rs_80357382

35 SubmittersRCV000019263 RCV000047713 RCV000131899 RCV000195359 RCV000469732 RCV000508177 RCV000763009 RCV004758595 RCV004802945

NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter)

SNV
Germline

Chr7:152648842

Conflicting classifications of pathogenicity

Fanconi anemia complementation group U
Hereditary cancer-predisposing syndrome
Condition: not provided
Short stature, microcephaly, and endocrine dysfunction

Criteria Provided
Conflicting Classifications

CA128903

rs_143153871

9 SubmittersRCV000022966 RCV000210083 RCV000236424 RCV001261591

NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)

SNV
Germline

Chr17:61801348

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Hereditary cancer-predisposing syndrome
Diffuse intrinsic pontine glioma
Condition: not provided
Familial cancer of breast
BRIP1-related disorder
Familial ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA157735

rs_149364097

16 SubmittersRCV000023492 RCV000466014 RCV000120412 RCV000131544 RCV000761010 RCV000216316 RCV003335053 RCV004528133 RCV005600622 RCV002271374

NM_032444.4(SLX4):c.1163+2T>A

SNV
Germline

Chr16:3600977

Pathogenic

Fanconi anemia complementation group P

No Assertion Criteria Provided

CA7866625

rs_773642409

2 SubmittersRCV000024017

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
RAD51C-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA325658

rs_387907159

13 SubmittersRCV000024264 RCV000205139 RCV000219684 RCV000483994 RCV003149575 RCV004734529 RCV004576911

NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter)

SNV
Germline

ChrX:14844518

Pathogenic

Fanconi anemia complementation group B

No Assertion Criteria Provided

CA412438096

rs_1569083185

2 SubmittersRCV000030703

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
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA000791

rs_397507184

9 SubmittersRCV000030979 RCV000130767 RCV000539447 RCV001293586 RCV002472941 RCV005016302

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
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA000895

rs_80358158

20 SubmittersRCV000030985 RCV000047435 RCV000131843 RCV000236913 RCV001358046 RCV002504838 RCV004566758

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
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA000948

rs_397507187

13 SubmittersRCV000030992 RCV000165869 RCV000236685 RCV000587317 RCV000526449 RCV005016303 RCV003149591

NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)

SNV
Germline

Chr17:43093844

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Breast carcinoma
Ovarian neoplasm
Familial cancer of breast
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Breast and/or ovarian cancer
Ovarian neoplasm
Endometrial carcinoma
BRCA1-related disorder
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA001106

rs_80356898

52 SubmittersRCV000047559 RCV000031007 RCV000131897 RCV000159956 RCV000238721 RCV000415155 RCV000763006 RCV000786987 RCV000770747 RCV000785207 RCV003128130 RCV004554614 RCV004802954

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
BRCA1-related cancer predisposition
not specified
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001364

rs_28897680

13 SubmittersRCV000031024 RCV000047696 RCV000129968 RCV000587889 RCV004802958 RCV002281723 RCV005016304

NM_007294.4(BRCA1):c.212+1G>A

SNV
Germline

Chr17:43106455

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
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA001405

rs_80358042

18 SubmittersRCV000031027 RCV000496861 RCV000505828 RCV000509688 RCV000735528 RCV001171413 RCV005357166

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
not specified
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001413

rs_80357182

17 SubmittersRCV000031028 RCV000129531 RCV000314335 RCV001193139 RCV000709482 RCV004758602 RCV005357167

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
Familial cancer of breast
Breast and/or ovarian cancer
BRCA1-related cancer predisposition
Inherited breast cancer and ovarian cancer
BRCA1-related disorder
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA001424

rs_80358061

23 SubmittersRCV000031030 RCV000047725 RCV000074570 RCV000131898 RCV000469831 RCV000735531 RCV004802959 RCV005416026 RCV004758603 RCV005394181

NM_007294.4(BRCA1):c.213-12A>G

SNV
Germline

Chr17:43104968

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Ovarian neoplasm
BRCA1-related disorder
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Breast and/or ovarian cancer
Familial cancer of breast

Reviewed By Expert Panel

CA001426

rs_80358163

31 SubmittersRCV000047726 RCV000131900 RCV000031031 RCV000167772 RCV000505888 RCV000785201 RCV004758604 RCV002504839 RCV001270969 RCV005246595

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
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Fanconi anemia, complementation group S
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA001436

rs_80357233

18 SubmittersRCV000031032 RCV000047730 RCV000074571 RCV000162851 RCV002477031 RCV004802960

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
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

CA001689

rs_80357131

13 SubmittersRCV000031056 RCV000047880 RCV000223464 RCV000657621 RCV002496473

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
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA002098

rs_397507213

11 SubmittersRCV000031098 RCV000164913 RCV000590619 RCV000559848 RCV005357171

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
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA002361

rs_41293451

13 SubmittersRCV000031122 RCV000048282 RCV000131521 RCV000195391 RCV001281713 RCV004554626 RCV005357172

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
BRCA1-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA002499

rs_397507223

8 SubmittersRCV000031136 RCV000222822 RCV000688186 RCV004802976 RCV005016308

NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)

SNV
Germline

Chr17:43099876

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA002865

rs_397507233

15 SubmittersRCV000031175 RCV000219296 RCV000240737 RCV000479398 RCV000764128 RCV000458634 RCV001357250 RCV002267803 RCV004758612

NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)

SNV
Germline

Chr17:43076488

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA002876

rs_80357389

27 SubmittersRCV000031179 RCV000131886 RCV000159992 RCV000238601 RCV000048576 RCV000770739 RCV000462940 RCV001171414 RCV005016310

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
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
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
Multiple Submitters
No Conflicts

CA003127

rs_80358086

26 SubmittersRCV000031201 RCV000048724 RCV000159997 RCV000131837 RCV000735559 RCV005016311 RCV005394183

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
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA003193

rs_80358053

18 SubmittersRCV000031210 RCV000048764 RCV000131833 RCV000481404 RCV001353952 RCV004795939

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
Breast and/or ovarian cancer
Malignant tumor of breast
Condition: not provided
BRCA1-related cancer predisposition
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA003230

rs_397507241

11 SubmittersRCV000031216 RCV000129997 RCV000464859 RCV000735461 RCV001353519 RCV003318545 RCV004566763 RCV005016312

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
Breast and/or ovarian cancer
Ovarian neoplasm
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Gastric cancer
BRCA1-related cancer predisposition
BRCA1-related disorder
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA003235

rs_41293459

50 SubmittersRCV000031217 RCV000048790 RCV000131564 RCV000195350 RCV000735446 RCV000785422 RCV002250479 RCV002496477 RCV003162265 RCV004802991 RCV004554634 RCV005357178

NM_007294.4(BRCA1):c.5122G>A (p.Ala1708Thr)

SNV
Germline

Chr17:43063904

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003251

rs_397507243

5 SubmittersRCV000031220 RCV000223569 RCV000198404 RCV005357179

NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)

SNV
Germline

Chr17:43063903

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
BRCA1-related disorder
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA003253

rs_28897696

24 SubmittersRCV000031221 RCV000048803 RCV000148393 RCV000131166 RCV000212194 RCV000589633 RCV001353479 RCV002250480 RCV004758614 RCV005016313 RCV004802992

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
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA003357

rs_45553935

24 SubmittersRCV000031229 RCV000048857 RCV000131291 RCV000195366 RCV000585878 RCV005357181

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
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA003419

rs_80358150

32 SubmittersRCV000031235 RCV000074601 RCV000131865 RCV000235135 RCV000507129 RCV000735562 RCV001353526 RCV001171438 RCV005016314 RCV005357182

NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)

SNV
Germline

Chr17:43047676

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA003596

rs_1800751

16 SubmittersRCV000031251 RCV000496797 RCV000484398 RCV000574861 RCV001390965 RCV005357183

NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)

SNV
Germline

Chr17:43045761

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA003680

rs_80356959

21 SubmittersRCV000031260 RCV000236322 RCV000129546 RCV000779893 RCV005357184

NM_007294.4(BRCA1):c.593+9A>G

SNV
Germline

Chr17:43097235

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-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA003751

rs_80358133

9 SubmittersRCV000031266 RCV000531917 RCV000580719 RCV000433193 RCV003736546 RCV005394185

NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)

SNV
Germline

Chr17:43094569

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA003986

rs_80357292

21 SubmittersRCV000031293 RCV000159948 RCV000735517 RCV004760347 RCV000049204 RCV000162891 RCV000239176 RCV005016315

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
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA004002

rs_397507259

8 SubmittersRCV000031294 RCV000165321 RCV001338193 RCV003321486 RCV005357187

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
Fanconi anemia complementation group D1
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012131

rs_56390402

17 SubmittersRCV000031322 RCV000131573 RCV001109419 RCV000679155 RCV001818198 RCV001082494

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 SubmittersRCV000031339 RCV000130469 RCV000168530 RCV001114847 RCV001082266 RCV001284556 RCV003607203

NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)

SNV
Germline

Chr13:32336595

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA014722

rs_397507283

13 SubmittersRCV000031359 RCV000657147 RCV001112185 RCV000204756 RCV000215823 RCV000487003

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
not specified
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Familial prostate cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA016775

rs_397507296

15 SubmittersRCV000031388 RCV000165120 RCV000781108 RCV000220429 RCV001111816 RCV000471898 RCV005357196 RCV003153311

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
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020880

rs_80358705

16 SubmittersRCV000031508 RCV000044498 RCV001112023 RCV003492312 RCV001353552 RCV000074530 RCV000130783

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
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
8 conditions
Ovarian neoplasm
Fanconi anemia complementation group D1
Malignant tumor of breast
Familial cancer of breast
BRCA2-related cancer predisposition
Inherited ovarian cancer (without breast cancer)

Reviewed By Expert Panel

CA021070

rs_80358721

29 SubmittersRCV000031517 RCV000044533 RCV000128925 RCV000194794 RCV000195354 RCV000496311 RCV000762918 RCV000785221 RCV001269282 RCV001353669 RCV003473182 RCV004803038 RCV004808557

NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)

SNV
Germline

Chr13:32326272

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Condition: not provided
BRCA2-related disorder
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA021201

rs_80358730

17 SubmittersRCV000031522 RCV000074532 RCV000129126 RCV000044547 RCV001111540 RCV001281705 RCV004541040 RCV001798044

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
Malignant tumor of breast
Breast and/or ovarian cancer
Fanconi anemia complementation group D1
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023684

rs_56191579

17 SubmittersRCV000031601 RCV000166682 RCV001353819 RCV000768600 RCV001330945 RCV004562221 RCV000586884 RCV001085159

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
Malignant tumor of breast
Fanconi anemia complementation group D1
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA023686

rs_56191579

16 SubmittersRCV000031602 RCV000044854 RCV000130525 RCV000421588 RCV000413633 RCV001086174 RCV001358172 RCV001112564 RCV003492315

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 SubmittersRCV000031634 RCV000044985 RCV000129413 RCV000589601 RCV001109884 RCV001081092 RCV003492317

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
BRCA2-related disorder
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA024713

rs_28897743

38 SubmittersRCV000009923 RCV000031659 RCV000045112 RCV000131031 RCV000174440 RCV000475925 RCV000735595 RCV002496486 RCV004732575 RCV005237444

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
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Familial prostate cancer
Familial cancer of breast

Reviewed By Expert Panel

CA025372

rs_81002874

23 SubmittersRCV000031714 RCV000045368 RCV000507368 RCV000162588 RCV000486971 RCV003483442 RCV004566780 RCV005357214 RCV003473215

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
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA025677

rs_397507404

26 SubmittersRCV000009920 RCV000031747 RCV000160152 RCV000213906 RCV000231355 RCV000763329 RCV003473221 RCV003162283 RCV002221480 RCV004803081

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
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025712

rs_11571747

37 SubmittersRCV000031751 RCV000034464 RCV000152885 RCV000131022 RCV000167825 RCV000371112 RCV000735613 RCV004803082

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
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA025983

rs_202155613

13 SubmittersRCV000031795 RCV000074559 RCV000223314 RCV000344086 RCV000289162 RCV002250496 RCV002271381 RCV005357224

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
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast carcinoma
Breast-ovarian cancer, familial, susceptibility to, 1
Gastric cancer
Familial cancer of breast
BRCA2-related cancer predisposition
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025994

rs_28897756

36 SubmittersRCV000031798 RCV000045725 RCV000074560 RCV000131039 RCV000515207 RCV000763330 RCV001171453 RCV001554310 RCV001310189 RCV003162286 RCV003473227 RCV004566785 RCV005624714

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
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026214

rs_55939572

19 SubmittersRCV000031831 RCV000045855 RCV000162692 RCV001083417 RCV001357124 RCV001109312 RCV000735629 RCV000758980 RCV004803095

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
Malignant tumor of 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 SubmittersRCV000034454 RCV000113573 RCV000129753 RCV000195307 RCV000240685 RCV000677821 RCV000406166 RCV002250503 RCV001353658 RCV001818210 RCV004541066

NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)

SNV
Germline

Chr17:43067677

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Breast carcinoma
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003152

rs_80357087

22 SubmittersRCV000034757 RCV000130911 RCV000048736 RCV000112461 RCV000148380 RCV000414907 RCV001197438 RCV001079653 RCV001353726 RCV005357258

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
Fanconi anemia complementation group D1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA010336

rs_80358396

14 SubmittersRCV000043719 RCV000112875 RCV001111640 RCV000509731 RCV000759572 RCV001280581

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
not specified
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011324

rs_80358418

12 SubmittersRCV000077253 RCV000129196 RCV004700317 RCV001284073 RCV001112107 RCV001394892

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
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Fanconi anemia complementation group D1
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA015810

rs_80358523

9 SubmittersRCV000113070 RCV000163028 RCV001339978 RCV001357214 RCV001109534 RCV004691733

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
Fanconi anemia complementation group D1
Ovarian neoplasm
Malignant tumor of breast
BRCA2-related cancer predisposition
BRCA2-related disorder
8 conditions

Reviewed By Expert Panel

CA016531

rs_80358533

40 SubmittersRCV000044070 RCV000077287 RCV000131101 RCV000212222 RCV000496649 RCV001028039 RCV000785217 RCV001358552 RCV004803151 RCV004724777 RCV004795965

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
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
not specified

Criteria Provided
Conflicting Classifications

CA017285

rs_80358559

10 SubmittersRCV000044123 RCV000113138 RCV000129709 RCV000483875 RCV001535463 RCV000779942

NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)

SNV
Germline

Chr13:32325082

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified
8 conditions

Criteria Provided
Conflicting Classifications

CA017610

rs_80358568

15 SubmittersRCV000077298 RCV000221445 RCV000166938 RCV000315720 RCV001356621 RCV001372390 RCV002250509 RCV002267810 RCV005007965

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
Fanconi anemia complementation group D1
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA018880

rs_80358625

12 SubmittersRCV000044272 RCV000083101 RCV000132466 RCV001112374 RCV000985512 RCV002271387 RCV004803170

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
Condition: not provided
Fanconi anemia complementation group D1
not specified
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA020333

rs_80358684

18 SubmittersRCV000044428 RCV000113312 RCV000130950 RCV000755874 RCV001113729 RCV003230379 RCV003153336

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
Breast and/or ovarian cancer
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA020526

rs_80358694

17 SubmittersRCV000044452 RCV000077330 RCV000129285 RCV000212237 RCV000413529 RCV001109714 RCV001281727 RCV003149681 RCV001353885

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 SubmittersRCV000044590 RCV000113731 RCV000131488 RCV000212206 RCV001083460 RCV001111541 RCV001355912 RCV004584182

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 SubmittersRCV000044656 RCV000113427 RCV000131487 RCV000590661 RCV000855580 RCV001112467 RCV001358175 RCV003607214 RCV004584183

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 breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group D1
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA022780

rs_55996097

23 SubmittersRCV000077357 RCV000167807 RCV000129072 RCV000168580 RCV000336386 RCV000755862 RCV004542701

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 breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
BRCA2-related disorder
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA023455

rs_80358833

20 SubmittersRCV000044813 RCV000077366 RCV000195331 RCV000129689 RCV000859013 RCV000318984 RCV004537198 RCV005357328

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
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023655

rs_80358849

12 SubmittersRCV000083122 RCV000120341 RCV000166225 RCV001110580 RCV001529429 RCV001374119

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 breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA023819

rs_397507838

12 SubmittersRCV000083125 RCV000486364 RCV000709324 RCV000759639 RCV000580567 RCV003225719 RCV005364928

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
BRCA2-related cancer predisposition
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA023867

rs_56172926

25 SubmittersRCV000044901 RCV000077370 RCV000131282 RCV001085349 RCV001112565 RCV004803870 RCV001705700 RCV003492360

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
Breast neoplasm
Fanconi anemia complementation group D1
Condition: not provided
BRCA2-related cancer predisposition
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA024008

rs_11571659

28 SubmittersRCV000044938 RCV000077373 RCV000120342 RCV000128955 RCV000414271 RCV000311226 RCV000656613 RCV004803872 RCV003149687

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
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024312

rs_41293503

19 SubmittersRCV000045026 RCV000083129 RCV000165940 RCV000216299 RCV000781142 RCV001109885 RCV000763895 RCV003492361 RCV004732620 RCV004803875

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
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Pancreatic cancer, susceptibility to, 2
Fanconi anemia complementation group D1

Criteria Provided
Conflicting Classifications

CA024315

rs_80358895

11 SubmittersRCV000113631 RCV000130198 RCV001351104 RCV000212251 RCV000656798 RCV005357336 RCV001110667

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
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA024407

rs_80358904

13 SubmittersRCV000077383 RCV000162802 RCV000225748 RCV001110668 RCV001284581 RCV001818218 RCV005357337

NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)

SNV
Germline

Chr13:32341176

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Fanconi anemia complementation group D1
Malignant tumor of breast
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA024458

rs_55712212

29 SubmittersRCV000045064 RCV000077387 RCV000074551 RCV000131679 RCV000735591 RCV002294006 RCV001110669 RCV001270288 RCV001200387 RCV004528247

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
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia complementation group D1

Criteria Provided
Multiple Submitters
No Conflicts

CA024716

rs_28897743

17 SubmittersRCV000045113 RCV000077394 RCV000214499 RCV000256059 RCV000475905 RCV001353724 RCV001171445 RCV001310135 RCV001269283

NM_000059.4(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
not specified
Fanconi anemia complementation group D1
Hereditary cancer-predisposing syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA025078

rs_81002793

9 SubmittersRCV000045210 RCV000113755 RCV000426181 RCV000302479 RCV000579409 RCV004542704

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
Fanconi anemia complementation group D1
Condition: not provided
BRCA2-related cancer predisposition
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025098

rs_80358969

10 SubmittersRCV000113764 RCV000164219 RCV001110755 RCV000759655 RCV004803897 RCV001305633 RCV004566836

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
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA025358

rs_80359024

18 SubmittersRCV000113846 RCV000212265 RCV000510118 RCV001378206 RCV003460615 RCV005237472

NM_000059.4(BRCA2):c.7976+12G>A

SNV
Germline

Chr13:32362705

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA025363

rs_81002827

13 SubmittersRCV000045362 RCV000129688 RCV000113847 RCV000195308 RCV000293235 RCV001353771 RCV003492368

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
Malignant tumor of breast
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA025521

rs_80359069

19 SubmittersRCV000045453 RCV000077431 RCV000129733 RCV000214196 RCV001080912 RCV001353878 RCV001110061 RCV003149693 RCV004537208

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
Familial prostate cancer
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA025663

rs_80359097

14 SubmittersRCV000045529 RCV000077440 RCV000164639 RCV001114949 RCV005357362 RCV001561218 RCV003235008

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
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder
Hearing impairment
Cerebral palsy
Neurodevelopmental delay
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1

Criteria Provided
Multiple Submitters
No Conflicts

CA025672

rs_81002806

12 SubmittersRCV000113945 RCV000502951 RCV000571631 RCV001379438 RCV000985604 RCV004732632 RCV001007900 RCV002272042 RCV003483454

NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)

SNV
Germline

Chr13:32379412

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
Breast and/or ovarian cancer
Fanconi anemia complementation group D1
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025850

rs_28897754

31 SubmittersRCV000045642 RCV000162603 RCV000114008 RCV000120366 RCV000679194 RCV001170977 RCV001112820 RCV004528254 RCV004803924

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
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025937

rs_80359155

13 SubmittersRCV000045694 RCV000077458 RCV000130329 RCV000377237 RCV000505780 RCV001175463 RCV004803927

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
Condition: not provided
not specified
8 conditions
Fanconi anemia complementation group D1

Criteria Provided
Conflicting Classifications

CA026037

rs_80359186

10 SubmittersRCV000045750 RCV000077464 RCV000130237 RCV000656811 RCV000326170 RCV000765143 RCV001114168

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
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026215

rs_55939572

15 SubmittersRCV000045856 RCV000083161 RCV000128972 RCV000587951 RCV001109313 RCV000735630 RCV001080083

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
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000742

rs_80356880

7 SubmittersRCV000111781 RCV000763401 RCV001378528 RCV002433536

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 SubmittersRCV000241007 RCV000509759 RCV000767397 RCV001328427

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
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA000825

rs_80357083

9 SubmittersRCV000111573 RCV000566344 RCV005243109 RCV001852985 RCV005357376

NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter)

SNV
Germline

Chr17:43094239

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA000845

rs_80357346

5 SubmittersRCV000111583 RCV002381345 RCV000767398

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
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA000862

rs_80357446

27 SubmittersRCV000077487 RCV000166901 RCV000434130 RCV000496386 RCV000735465 RCV000763011 RCV005394278

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
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA000918

rs_62625300

12 SubmittersRCV000047448 RCV000111599 RCV000148411 RCV000215677 RCV000679681 RCV000764125

NM_007294.4(BRCA1):c.146T>G (p.Leu49Arg)

SNV
Germline

Chr17:43106522

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA000986

rs_273897660

7 SubmittersRCV000111885 RCV001011756 RCV001301250 RCV005357377

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
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001127

rs_397508902

11 SubmittersRCV000166298 RCV000167785 RCV000656786 RCV000662632 RCV002483062 RCV004803961

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
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA001154

rs_80356859

12 SubmittersRCV000083172 RCV000220799 RCV000438467 RCV001415715 RCV002262608 RCV005357380

NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter)

SNV
Germline

Chr17:43106490

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Ovarian cancer
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA001162

rs_80357471

14 SubmittersRCV000077496 RCV000496952 RCV000505825 RCV004698337 RCV002399413 RCV005357381

NM_007294.4(BRCA1):c.1793T>G (p.Leu598Ter)

SNV
Germline

Chr17:43093738

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA001164

rs_80357118

9 SubmittersRCV000162846 RCV000111687 RCV001852988 RCV005364936

NM_007294.4(BRCA1):c.1881C>G (p.Val627=)

SNV
Germline

Chr17:43093650

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
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001223

rs_80356838

17 SubmittersRCV000111719 RCV000212164 RCV000165591 RCV001408201 RCV000586671 RCV005357382

NM_007294.4(BRCA1):c.1912G>T (p.Glu638Ter)

SNV
Germline

Chr17:43093619

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA001256

rs_80357005

5 SubmittersRCV000111732 RCV005357383

NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)

SNV
Germline

Chr17:43093481

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
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001361

rs_397508934

13 SubmittersRCV000047694 RCV000485811 RCV000130395 RCV000768616 RCV000586501 RCV000764123 RCV004803967

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
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA001420

rs_80356913

11 SubmittersRCV000112023 RCV000503702 RCV001180531 RCV001384425 RCV004795985

NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser)

SNV
Germline

Chr17:43093263

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001515

rs_80356884

11 SubmittersRCV000111812 RCV000129867 RCV000254635 RCV001281712 RCV005016334 RCV000047778

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 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

Criteria Provided
Conflicting Classifications

CA001522

rs_80356869

8 SubmittersRCV000111815 RCV001368299 RCV000584283 RCV001762162 RCV005357385

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
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

CA001536

rs_80357063

15 SubmittersRCV000047791 RCV000077513 RCV000222520 RCV000445000 RCV002496716

NM_007294.4(BRCA1):c.2419G>T (p.Ala807Ser)

SNV
Germline

Chr17:43093112

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001612

rs_80357240

6 SubmittersRCV000111854 RCV001194351 RCV001015485 RCV001363802 RCV005357388

NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)

SNV
Germline

Chr17:43104928

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
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 and/or ovarian cancer
Malignant tumor of breast
Condition: not provided

Reviewed By Expert Panel

CA001613

rs_80357350

13 SubmittersRCV000112105 RCV000047834 RCV000763008 RCV001015488 RCV000735472 RCV001353463 RCV003321493

NM_007294.4(BRCA1):c.2591C>G (p.Ser864Ter)

SNV
Germline

Chr17:43092940

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA001703

rs_80357003

7 SubmittersRCV000241398 RCV000132313 RCV000496756 RCV004700334 RCV005016335

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
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001742

rs_80357480

17 SubmittersRCV000047914 RCV000111910 RCV000129905 RCV000589310 RCV000768614 RCV001081135 RCV005016336

NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)

SNV
Germline

Chr17:43092809

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast neoplasm
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA001792

rs_80356978

33 SubmittersRCV000074576 RCV000077527 RCV000047943 RCV000131878 RCV000148387 RCV000763005 RCV000735484 RCV005229873

NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)

SNV
Germline

Chr17:43092434

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA002029

rs_273899698

6 SubmittersRCV000216019 RCV000077538 RCV000763004

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
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA002133

rs_80356900

10 SubmittersRCV000112054 RCV000214206 RCV000506903 RCV001350762 RCV001582548 RCV005357391

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
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002215

rs_80357101

13 SubmittersRCV000077548 RCV000221866 RCV000590692 RCV000765364 RCV001296484

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
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
BRCA1-related cancer predisposition
Fanconi anemia, complementation group S
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA002289

rs_80356944

17 SubmittersRCV000048242 RCV000112127 RCV001092620 RCV000509865 RCV000779887 RCV004803985 RCV005357394 RCV004554662

NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)

SNV
Germline

Chr17:43091933

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
not specified
BRCA1-related disorder

Reviewed By Expert Panel

CA002296

rs_62625307

23 SubmittersRCV000048245 RCV000131819 RCV000159977 RCV000077552 RCV000763003 RCV001001611 RCV004554663

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
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA002319

rs_273900711

13 SubmittersRCV000048260 RCV000077553 RCV000130630 RCV001251417 RCV005016337 RCV003226902 RCV005357397

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
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA002328

rs_80356923

19 SubmittersRCV000112143 RCV000413182 RCV000562775 RCV000758815 RCV000779886 RCV001271013 RCV003162410 RCV004795987

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
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
not specified
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA002337

rs_273900712

14 SubmittersRCV000048271 RCV000112145 RCV000164401 RCV000758816 RCV000765362 RCV001194349 RCV001354959 RCV002250537

NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)

SNV
Germline

Chr17:43091638

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002504

rs_80357440

11 SubmittersRCV000162869 RCV000212178 RCV000077557 RCV000763002 RCV000587766

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
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Reviewed By Expert Panel

CA002562

rs_80357475

10 SubmittersRCV000048405 RCV000111552 RCV000131890 RCV000763402 RCV001357041

NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)

SNV
Germline

Chr17:43090963

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary cancer-predisposing syndrome
not specified
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
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA002665

rs_78951648

15 SubmittersRCV000077563 RCV000240719 RCV000218513 RCV000417371 RCV001506260 RCV002250543 RCV005016339 RCV004998169 RCV005357401

NM_007294.4(BRCA1):c.4485-1G>A

SNV
Germline

Chr17:43074522

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
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 SubmittersRCV000112343 RCV000235386 RCV000580034 RCV000496695 RCV000762999 RCV001171415 RCV001353957

NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)

SNV
Germline

Chr17:43074482

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast and/or ovarian cancer
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA002893

rs_80356885

30 SubmittersRCV000048586 RCV000129129 RCV000077575 RCV000236102 RCV001001033 RCV000762998 RCV003492388 RCV004584141

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
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA002930

rs_80357277

6 SubmittersRCV000077580 RCV001386983 RCV002326775 RCV005016340

NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)

SNV
Germline

Chr17:43074381

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002933

rs_41293457

13 SubmittersRCV000112366 RCV000129407 RCV001703953 RCV001778692 RCV005357405 RCV000048609

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
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002955

rs_80356906

9 SubmittersRCV000048622 RCV000112376 RCV001176277 RCV001280674 RCV005364943 RCV003237432

NM_007294.4(BRCA1):c.4675+1G>A

SNV
Germline

Chr17:43074330

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
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
Breast and/or ovarian cancer
Inherited ovarian cancer (without breast cancer)

Reviewed By Expert Panel

CA002957

rs_80358044

30 SubmittersRCV000048623 RCV000077582 RCV000414441 RCV000131822 RCV000762997 RCV000225764 RCV000735555 RCV005252719

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
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003012

rs_80357002

14 SubmittersRCV000083212 RCV000166139 RCV000437561 RCV001081217 RCV005364944

NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)

SNV
Germline

Chr17:43071071

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
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003050

rs_80356987

19 SubmittersRCV000048677 RCV000083213 RCV000130923 RCV000235839 RCV000413325 RCV000586352 RCV003149708 RCV002247445 RCV002483064

NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)

SNV
Germline

Chr17:43067614

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA003183

rs_397507239

15 SubmittersRCV000048756 RCV000130370 RCV000077592 RCV000225765 RCV000240688 RCV000765357 RCV000656791 RCV001353418

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
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA003197

rs_80358181

16 SubmittersRCV000112483 RCV000255098 RCV000496317 RCV001378309 RCV001271029 RCV002345343 RCV004795988

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
Breast and colorectal cancer
Condition: not provided
Fanconi anemia complementation group A
Hereditary cancer-predisposing syndrome
Ovarian cancer
Familial cancer of breast
Fanconi anemia, complementation group S
Malignant tumor of breast
Endometrial carcinoma
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003234

rs_55770810

41 SubmittersRCV000048789 RCV000077595 RCV000148390 RCV000159999 RCV000191041 RCV000131821 RCV000239322 RCV000457515 RCV000585864 RCV001357133 RCV003128133 RCV004804015

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
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003240

rs_80357264

14 SubmittersRCV000112724 RCV000130039 RCV000487016 RCV000656995 RCV001089404 RCV005357411

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
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003262

rs_80357132

15 SubmittersRCV000048808 RCV000112502 RCV000733369 RCV001023598 RCV005357412

NM_007294.4(BRCA1):c.5153-1G>A

SNV
Germline

Chr17:43063374

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA003295

rs_80358137

13 SubmittersRCV000112530 RCV000522401 RCV000496373 RCV001023627 RCV005394283

NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)

SNV
Germline

Chr17:43063361

Conflicting classifications of pathogenicity

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
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003318

rs_80357104

20 SubmittersRCV000048839 RCV000077606 RCV000214443 RCV000236284 RCV001354040 RCV002490620

NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser)

SNV
Germline

Chr17:43063337

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
BRCA1-related disorder
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003331

rs_80357171

15 SubmittersRCV000077607 RCV000235134 RCV000132266 RCV000985247 RCV001305771 RCV004758633 RCV005364945

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
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA003337

rs_80358004

7 SubmittersRCV000112550 RCV000131171 RCV000486220 RCV003529968 RCV005357413

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
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA003343

rs_80358079

12 SubmittersRCV000048851 RCV000077608 RCV000583637 RCV000762996 RCV001171437 RCV004566894 RCV005394284

NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)

SNV
Germline

Chr17:43057078

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast neoplasm
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Breast and/or ovarian cancer

Reviewed By Expert Panel

CA003389

rs_80357123

45 SubmittersRCV000048882 RCV000077611 RCV000074600 RCV000786961 RCV000162884 RCV000414226 RCV000763399 RCV001270975

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
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA003392

rs_80357442

7 SubmittersRCV000112580 RCV000567938 RCV001378200 RCV001811343 RCV005364946

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
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA003394

rs_80357074

6 SubmittersRCV000112581 RCV000563666 RCV001326888 RCV003321495 RCV004819215

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
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003470

rs_80357324

10 SubmittersRCV000077613 RCV000164158 RCV001545333 RCV001498333 RCV003235023 RCV005357416

NM_007294.4(BRCA1):c.5333-1G>A

SNV
Germline

Chr17:43049195

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA003494

rs_80358126

7 SubmittersRCV000169281 RCV000758843 RCV001384038 RCV002345349 RCV004795989

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
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA003508

rs_80357474

13 SubmittersRCV000048948 RCV000112624 RCV000132201 RCV000236823 RCV005357417

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
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Malignant tumor of breast
Breast carcinoma

Reviewed By Expert Panel

CA003599

rs_80356962

34 SubmittersRCV000048996 RCV000112656 RCV000162887 RCV000167788 RCV000414344 RCV000735516 RCV000763398 RCV000785212 RCV001353974 RCV001554250

NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)

SNV
Germline/somatic

Chr17:43045767

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Breast neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Ovarian neoplasm
Breast and/or ovarian cancer
Malignant tumor of breast
Familial cancer of breast
Lung cancer
Ovarian neoplasm
Breast carcinoma
Gastric cancer
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA003674

rs_41293465

50 SubmittersRCV000077627 RCV000049020 RCV000240766 RCV000131862 RCV000203652 RCV000238956 RCV000785213 RCV000735447 RCV001353835 RCV001527479 RCV001554249 RCV003162421 RCV002496720 RCV004772834

NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys)

SNV
Germline

Chr17:43045764

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
not specified
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003678

rs_80356942

13 SubmittersRCV000112686 RCV000168525 RCV000219922 RCV000195397 RCV000735480 RCV005237483 RCV005357419

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
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Inherited breast cancer and ovarian cancer
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003761

rs_80357394

12 SubmittersRCV000112753 RCV000129590 RCV001268974 RCV000225767 RCV000589445 RCV005237484 RCV005357420

NM_007294.4(BRCA1):c.800C>G (p.Ser267Ter)

SNV
Germline

Chr17:43094731

Pathogenic

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

CA003883

rs_80357392

6 SubmittersRCV000112791 RCV005357422 RCV001381875 RCV002415507

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
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Fanconi anemia, complementation group S
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003942

rs_80357039

10 SubmittersRCV000112804 RCV000507601 RCV000563578 RCV000764126 RCV001281716 RCV001370720

NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)

SNV
Germline

Chr16:13947661

Likely pathogenic

Fanconi anemia complementation group Q
Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
XFE progeroid syndrome
Fanconi anemia complementation group Q
Condition: not provided
ERCC4-Related Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA143933

rs_149364215

5 SubmittersRCV000049245 RCV001067959 RCV005016345 RCV003144119 RCV004700343

NM_005236.3(ERCC4):c.689T>C (p.Leu230Pro)

SNV
Germline

Chr16:13928132

Pathogenic

Fanconi anemia complementation group Q

No Assertion Criteria Provided

CA143936

rs_397509402

2 SubmittersRCV000049247

NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)

SNV
Germline

Chr16:13935697

Pathogenic/Likely pathogenic

Xeroderma pigmentosum, type F/Cockayne syndrome
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
XFE progeroid syndrome
Xeroderma pigmentosum
ERCC4-related disorder
Autosomal recessive cerebellar ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA143941

rs_147105770

7 SubmittersRCV000049250 RCV000700109 RCV000762956 RCV002222373 RCV003415812 RCV005429220

NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp)

SNV
Germline

Chr17:43091976

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer 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

Criteria Provided
Conflicting Classifications

CA002273

rs_587779368

11 SubmittersRCV000077551 RCV000074581 RCV000165151 RCV000469806 RCV000765363 RCV000766573

NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp)

SNV
Germline

Chr17:43076562

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
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA002829

rs_80357075

15 SubmittersRCV000077572 RCV000120257 RCV000131557 RCV000724288 RCV001083415 RCV005357438

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
Fanconi anemia complementation group D1
Condition: not provided
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA023638

rs_398122547

8 SubmittersRCV000076954 RCV000471187 RCV000509879 RCV001113535 RCV000758918 RCV005357503

NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)

SNV
Germline

Chr13:32340895

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024153

rs_398122560

12 SubmittersRCV000076969 RCV000160235 RCV000131800 RCV000234409 RCV001109883 RCV003477474

NM_007294.4(BRCA1):c.134+5G>A

SNV
Germline

Chr17:43115721

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast
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

7 SubmittersRCV000077065 RCV005394334 RCV001010944 RCV001221249 RCV003477477

NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu)

SNV
Germline

Chr17:43091663

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002491

rs_80357254

13 SubmittersRCV000218431 RCV001193691 RCV005357512 RCV000077134 RCV000759529 RCV000234532

NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)

SNV
Germline

Chr17:43091477

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 cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002590

rs_80357202

8 SubmittersRCV000077137 RCV000763001 RCV001021760 RCV001268679 RCV001854354

NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)

SNV
Germline

Chr17:43049170

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Triple-negative breast cancer

Criteria Provided
Conflicting Classifications

CA003521

rs_398122697

16 SubmittersRCV000077166 RCV000159852 RCV000465437 RCV004796005 RCV000766591 RCV000509661 RCV005401325

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
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003820

rs_398122708

9 SubmittersRCV000077181 RCV000233161 RCV000569574 RCV001800381 RCV003493435 RCV005357515

NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)

SNV
Germline

Chr13:32333240

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
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA013120

rs_398122731

15 SubmittersRCV000077665 RCV000163030 RCV000160207 RCV000531905 RCV001109420 RCV001353480 RCV001703984

NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)

SNV
Germline

Chr13:32336541

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast neoplasm
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA014563

rs_431825296

14 SubmittersRCV000166578 RCV000240800 RCV005357528 RCV000758870 RCV000763882 RCV000082901 RCV002298468 RCV001112184 RCV000637814 RCV000677830

NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)

SNV
Germline

Chr13:32337581

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA017586

rs_431825304

13 SubmittersRCV000222899 RCV002247480 RCV000082909 RCV000588617 RCV000799401 RCV001113630 RCV004732659

NM_007294.4(BRCA1):c.1015A>G (p.Lys339Glu)

SNV
Germline

Chr17:43094516

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000685

rs_55842957

11 SubmittersRCV000083015 RCV000776162 RCV005357532 RCV000417490 RCV001085581

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
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA002795

rs_431825407

7 SubmittersRCV000083052 RCV000582878 RCV000637934 RCV001636653 RCV001798285 RCV004586546 RCV005394354

NM_007294.4(BRCA1):c.5467+3A>C

SNV
Germline

Chr17:43047640

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003613

rs_431825417

7 SubmittersRCV001040934 RCV001072163 RCV001528434 RCV005364977

NM_007294.4(BRCA1):c.5468-40T>A

SNV
Germline

Chr17:43045842

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Single Submitter

CA003626

rs_80358151

2 SubmittersRCV000112667 RCV005394366

NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)

SNV
Germline

Chr13:32379878

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
Fanconi anemia complementation group D1

Criteria Provided
Multiple Submitters
No Conflicts

CA025963

rs_80359161

9 SubmittersRCV000114042 RCV000129295 RCV000758971 RCV001055261 RCV003460793 RCV001568367

NC_000016.10:g.23641315C>G

SNV
Germline

Chr16:23641315

Conflicting classifications of pathogenicity

Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA269467

rs_138200248

4 SubmittersRCV000282144 RCV000374410 RCV001030094 RCV000829438

NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp)

SNV
Germline

Chr16:23635546

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA193504

rs_202241382

8 SubmittersRCV000165476 RCV000402501 RCV000483117 RCV001087026 RCV004595925

NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)

SNV
Germline

Chr16:23635536

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA151212

rs_45494092

28 SubmittersRCV000114450 RCV000121752 RCV000127306 RCV001116860 RCV000755592 RCV001354445 RCV001798291

NM_024675.4(PALB2):c.110G>A (p.Arg37His)

SNV
Germline

Chr16:23637951

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA288386

rs_202194596

14 SubmittersRCV000114460 RCV000116061 RCV000212768 RCV000780571 RCV002483177 RCV004739369

NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)

SNV
Germline

Chr16:23635401

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA269483

rs_515726063

11 SubmittersRCV000114461 RCV000483203 RCV000567033 RCV002483178

NM_024675.4(PALB2):c.1194G>A (p.Val398=)

SNV
Germline

Chr16:23635352

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group N
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA151219

rs_61755173

29 SubmittersRCV000114462 RCV000127307 RCV000212786 RCV000327932 RCV000588666 RCV001170350 RCV001357080 RCV005234992

NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)

SNV
Germline

Chr16:23641147

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Esophageal atresia/tracheoesophageal fistula
Fanconi anemia complementation group N
Condition: not provided
Breast and/or ovarian cancer
PALB2-related disorder
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA288392

rs_45619737

15 SubmittersRCV000116063 RCV000114464 RCV000515208 RCV000590674 RCV001798292 RCV004739370 RCV001358373 RCV001797625

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
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA288398

rs_45510998

21 SubmittersRCV000114466 RCV000116065 RCV000590540 RCV001255214 RCV003483472 RCV004739371 RCV005394371

NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)

SNV
Germline

Chr16:23630455

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA288416

rs_370422990

18 SubmittersRCV000114495 RCV000116072 RCV001292820 RCV000588850 RCV001171429 RCV005359042 RCV004529918

NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)

SNV
Germline

Chr16:23637865

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA187393

rs_180177083

18 SubmittersRCV000114503 RCV000163078 RCV000235795 RCV000588616 RCV001798296 RCV005016383

NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)

SNV
Germline

Chr16:23629768

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N

Criteria Provided
Multiple Submitters
No Conflicts

CA163823

rs_180177112

14 SubmittersRCV000114524 RCV000129116 RCV000236024 RCV001781442 RCV003330435

NM_024675.4(PALB2):c.2514+3A>G

SNV
Germline

Chr16:23629637

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast and/or ovarian cancer
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA269537

rs_515726088

9 SubmittersRCV000114530 RCV000160843 RCV000573333 RCV005016384 RCV003149781 RCV005359046

NM_024675.4(PALB2):c.2586+10A>G

SNV
Germline

Chr16:23629194

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Endometrial carcinoma
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA292645

rs_373321719

15 SubmittersRCV000114537 RCV000127295 RCV000588544 RCV000580770 RCV001118200 RCV001358400 RCV003149782

NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)

SNV
Germline

Chr16:23626310

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
not specified
Familial ovarian cancer
Familial cancer of breast
Fanconi anemia complementation group N
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA167879

rs_45476495

22 SubmittersRCV000114549 RCV000131257 RCV000587708 RCV001118198 RCV000483553 RCV003483473 RCV004739374 RCV005016385

NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)

SNV
Germline

Chr16:23626266

Pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA269561

rs_180177122

14 SubmittersRCV000114552 RCV000255170 RCV000562748 RCV002498481 RCV004782240 RCV005394374

NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)

SNV
Germline

Chr16:23624070

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA164110

rs_180177125

13 SubmittersRCV000114558 RCV000129279 RCV000764047 RCV000235847 RCV001798299

NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)

SNV
Germline

Chr16:23624027

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
not specified
Malignant tumor of breast
Condition: not provided
PALB2-related disorder
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA151239

rs_45478192

34 SubmittersRCV000114561 RCV000116092 RCV000306515 RCV000417395 RCV001356702 RCV000586156 RCV004528790 RCV001170349 RCV004760375

NM_024675.4(PALB2):c.2835-1G>C

SNV
Germline

Chr16:23623131

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA331795

rs_515726099

9 SubmittersRCV000114567 RCV000220116 RCV001171468 RCV004589552 RCV005016386

NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)

SNV
Germline

Chr16:23623114

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA161355

rs_149522412

21 SubmittersRCV000121763 RCV000129725 RCV001030355 RCV000397940 RCV000589520 RCV005359047

NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)

SNV
Germline

Chr16:23623096

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
not specified

Criteria Provided
Conflicting Classifications

CA299741

rs_515726103

13 SubmittersRCV000114573 RCV000160848 RCV000212818 RCV000764046 RCV003226198

NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)

SNV
Germline

Chr16:23623062

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA167762

rs_369132015

14 SubmittersRCV000114574 RCV000131197 RCV000215879 RCV001704012 RCV005394375 RCV004545746

NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)

SNV
Germline

Chr16:23636248

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
PALB2-related disorder
Pancreatic cancer, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA288454

rs_61756147

18 SubmittersRCV000114577 RCV001119843 RCV000116095 RCV000212772 RCV001192907 RCV004528791 RCV001355228 RCV001249253 RCV003492442

NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)

SNV
Germline

Chr16:23621362

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Breast and/or ovarian cancer
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
NICE approved PARP inhibitor treatment
Inherited breast cancer and ovarian cancer
Inherited ovarian cancer (without breast cancer)

Reviewed By Expert Panel

CA251004

rs_180177132

34 SubmittersRCV000114591 RCV000116096 RCV000212822 RCV000588093 RCV001171469 RCV001535480 RCV003389455 RCV003492443 RCV004528792 RCV005016387 RCV004577322 RCV004584191 RCV004584192

NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)

SNV
Germline

Chr16:23614077

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA168501

rs_377713277

14 SubmittersRCV000114598 RCV000131630 RCV000485289 RCV000780560 RCV002483180

NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)

SNV
Germline

Chr16:23636231

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA288463

rs_515726108

17 SubmittersRCV000114600 RCV000116099 RCV000212773 RCV001174951 RCV005359049 RCV002490766 RCV004529924

NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)

SNV
Germline

Chr16:23607963

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
not specified
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA239946

rs_62625271

17 SubmittersRCV000114610 RCV000160852 RCV001116749 RCV000656940 RCV001358132 RCV000764043 RCV003493439 RCV004739377

NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)

SNV
Germline

Chr16:23607958

Pathogenic/Likely pathogenic

Pancreatic cancer, susceptibility to, 3
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Gastric cancer
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA211207

rs_587776527

24 SubmittersRCV000114612 RCV000212825 RCV000160853 RCV000168017 RCV001030644 RCV002307393 RCV005003472 RCV003162531 RCV003149788 RCV003315406 RCV004528793

NM_024675.4(PALB2):c.3350+11A>G

SNV
Germline

Chr16:23607853

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA269616

rs_515726114

5 SubmittersRCV000424366 RCV001030411 RCV002466432

NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro)

SNV
Germline

Chr16:23603664

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA331796

rs_515726116

8 SubmittersRCV000114623 RCV000481742 RCV000574823 RCV005016389

NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)

SNV
Germline

Chr16:23603592

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
bilateral breast cancer
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
not specified

Criteria Provided
Conflicting Classifications

CA288478

rs_62625284

22 SubmittersRCV000114625 RCV000116104 RCV000585950 RCV001004833 RCV000764041 RCV004528795 RCV005394376 RCV001804169

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

25 SubmittersRCV000114647 RCV000121743 RCV000129207 RCV000376271 RCV000440737 RCV002225309

NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)

SNV
Germline

Chr16:23635917

Conflicting classifications of pathogenicity

not specified
Breast and/or ovarian cancer
Fanconi anemia complementation group N
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA161333

rs_57605939

23 SubmittersRCV000121750 RCV001798303 RCV000306267 RCV000114650 RCV000131969 RCV001705820 RCV002225310 RCV001358034

NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)

SNV
Germline

Chr16:23635795

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast and/or ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA269645

rs_180177091

16 SubmittersRCV000114657 RCV000210097 RCV000413603 RCV004813057 RCV004796018 RCV003492446

NM_024675.4(PALB2):c.814G>A (p.Glu272Lys)

SNV
Germline

Chr16:23635732

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Condition: not provided

Criteria Provided
Conflicting Classifications

CA193995

rs_515726127

11 SubmittersRCV000114664 RCV000165689 RCV004595926 RCV002483181 RCV003477491

NM_024675.4(PALB2):c.897T>C (p.Ser299=)

SNV
Germline

Chr16:23635649

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA269660

rs_180177095

11 SubmittersRCV000114668 RCV000419649 RCV000566337 RCV000858848 RCV001118310 RCV001798304

NM_024675.4(PALB2):c.94C>G (p.Leu32Val)

SNV
Germline

Chr16:23638084

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fanconi anemia complementation group N
Malignant tumor of breast
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA161318

rs_151316635

20 SubmittersRCV000114673 RCV000116117 RCV000121744 RCV000656932 RCV001119845 RCV001357251 RCV004529927 RCV005016391

NM_000136.3(FANCC):c.-78-2A>G

SNV
Germline

Chr9:95249371

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA287176

rs_587779898

3 SubmittersRCV000115337 RCV001068445 RCV005359076

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 SubmittersRCV000115339 RCV000630863 RCV001030468 RCV001009634

NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys)

SNV
Germline

Chr9:95111495

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA287184

rs_369684405

5 SubmittersRCV000115341 RCV000206060 RCV002381419 RCV005042212

NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser)

SNV
Germline

Chr9:95107225

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group C
Fanconi anemia
Hereditary cancer-predisposing syndrome
Hereditary cancer
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA287187

rs_56394801

8 SubmittersRCV000115342 RCV000709080 RCV000805530 RCV001011247 RCV003492471 RCV004748580

NM_000136.3(FANCC):c.1604G>A (p.Arg535His)

SNV
Germline

Chr9:95101780

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA287196

rs_587779902

5 SubmittersRCV000115345 RCV000228424 RCV001012346 RCV005000998

NM_000136.3(FANCC):c.178G>A (p.Val60Ile)

SNV
Germline

Chr9:95247504

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
Malignant tumor of breast
Hereditary cancer
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA287202

rs_138629441

20 SubmittersRCV000115347 RCV000224234 RCV000197543 RCV000563479 RCV000709095 RCV001354572 RCV003492472 RCV003935098

NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)

SNV
Germline

Chr9:95249263

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
Condition: not provided
Malignant tumor of breast
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA287205

rs_143152201

10 SubmittersRCV000233348 RCV000567825 RCV000709097 RCV000656849 RCV001358189 RCV001818266 RCV004700418

NM_000136.3(FANCC):c.345+6A>T

SNV
Germline

Chr9:95240643

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA287208

rs_368595927

4 SubmittersRCV000115349 RCV000196582 RCV003477494

NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)

SNV
Germline

Chr9:95172098

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA287213

rs_587779905

7 SubmittersRCV000115352 RCV000315029 RCV000709093 RCV000571052 RCV001818267 RCV003492473

NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)

SNV
Germline

Chr9:95149977

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
Fanconi anemia complementation group A
Malignant tumor of breast
Condition: not provided
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA159411

rs_140781259

16 SubmittersRCV000120979 RCV000200372 RCV000570280 RCV000709090 RCV000988214 RCV001356599 RCV001195037 RCV003945045

NM_000136.3(FANCC):c.843+1G>A

SNV
Germline

Chr9:95135345

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA287232

rs_587779909

8 SubmittersRCV000204814 RCV000410480 RCV002444565 RCV001356332

NM_000136.3(FANCC):c.934A>G (p.Ile312Val)

SNV
Germline

Chr9:95125148

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
Condition: not provided
not specified
Hereditary cancer
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA287233

rs_1800366

16 SubmittersRCV000196771 RCV000572525 RCV000709085 RCV001195051 RCV001818268 RCV004700419 RCV004748581

NM_005431.2(XRCC2):c.283A>G (p.Ile95Val)

SNV
Germline

Chr7:152649202

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group U
XRCC2-related disorder
Spermatogenic failure 50
Premature ovarian failure 17
Fanconi anemia complementation group U

Criteria Provided
Conflicting Classifications

CA288130

rs_140214637

8 SubmittersRCV000115888 RCV000791415 RCV000570999 RCV000988018 RCV003945051 RCV005031607

NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly)

SNV
Germline

Chr7:152648865

Conflicting classifications of pathogenicity

not specified
Colon cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group U

Criteria Provided
Conflicting Classifications

CA288141

rs_61762969

7 SubmittersRCV000115894 RCV000211556 RCV000571792 RCV000791413 RCV000988014

NM_005431.2(XRCC2):c.773G>A (p.Arg258His)

SNV
Germline

Chr7:152648712

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Spermatogenic failure 50
Premature ovarian failure 17
Fanconi anemia complementation group U

Criteria Provided
Conflicting Classifications

CA288147

rs_149186933

5 SubmittersRCV000656992 RCV000567423 RCV005031609

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
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Gastric cancer
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Multiple Submitters
No Conflicts

CA288395

rs_180177100

29 SubmittersRCV000116064 RCV000123331 RCV000254674 RCV001354096 RCV000588541 RCV003162546 RCV004529946 RCV004555854 RCV004668783 RCV005003478

NM_024675.4(PALB2):c.1697G>A (p.Arg566His)

SNV
Germline

Chr16:23630457

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Breast-ovarian cancer, familial, susceptibility to, 5
Breast-ovarian cancer, familial, susceptibility to, 2
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA288413

rs_144617793

16 SubmittersRCV000116071 RCV000229982 RCV001030254 RCV000564017 RCV005016399 RCV005359104 RCV005623303 RCV004542828

NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile)

SNV
Germline

Chr16:23630421

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA288419

rs_587780207

6 SubmittersRCV000116074 RCV000474485 RCV000567502 RCV002483190

NM_024675.4(PALB2):c.2379C>T (p.Gly793=)

SNV
Germline

Chr16:23629775

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA288444

rs_377626805

16 SubmittersRCV000116084 RCV000292657 RCV000200135 RCV000212811 RCV000780574 RCV001354155 RCV004542829

NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)

SNV
Germline

Chr16:23629645

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA161349

rs_587778587

19 SubmittersRCV000121758 RCV000116087 RCV000656936 RCV000318539 RCV000989556 RCV001798359 RCV001030647 RCV004529947 RCV001356207

NM_024675.4(PALB2):c.2846G>A (p.Cys949Tyr)

SNV
Germline

Chr16:23623119

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA161352

rs_587778588

8 SubmittersRCV000121761 RCV000635686 RCV000656938 RCV001804846 RCV005016400

NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)

SNV
Germline

Chr16:23623068

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Triple-negative breast cancer
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
not specified
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA210470

rs_587780214

18 SubmittersRCV000116094 RCV000204848 RCV000202384 RCV000212819 RCV000764045 RCV002267857 RCV004760383

NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)

SNV
Germline

Chr16:23603471

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 1
PALB2-related disorder
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N

Reviewed By Expert Panel

CA288488

rs_118203998

22 SubmittersRCV000116108 RCV000200012 RCV000587765 RCV000212831 RCV000763376 RCV003493446 RCV004528809 RCV005394394

NM_024675.4(PALB2):c.551G>C (p.Ser184Thr)

SNV
Germline

Chr16:23635995

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA288489

rs_587780220

5 SubmittersRCV000116109 RCV000559113 RCV001024216 RCV002498499

NM_024675.4(PALB2):c.856C>T (p.Pro286Ser)

SNV
Germline

Chr16:23635690

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA288495

rs_45585833

9 SubmittersRCV000567956 RCV000410687 RCV001174832 RCV000766543 RCV005394395

NM_024675.4(PALB2):c.949A>C (p.Thr317Pro)

SNV
Germline

Chr16:23635597

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA288504

rs_587780223

8 SubmittersRCV000116116 RCV000212783 RCV000472765 RCV002483191

NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp)

SNV
Germline

Chr17:61799194

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA288508

rs_587780225

6 SubmittersRCV000116119 RCV000780058 RCV000558154 RCV000571154 RCV003137632

NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)

SNV
Germline

Chr17:61799185

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Breast carcinoma
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Ovarian cancer
BRIP1-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA157738

rs_150624408

26 SubmittersRCV000120413 RCV000116120 RCV000415326 RCV000409993 RCV000206467 RCV001356264 RCV000587794 RCV003149812 RCV001262875 RCV005430124 RCV004529948 RCV004764766

NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)

SNV
Germline

Chr17:61799125

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial ovarian cancer
Gastric cancer
Familial cancer of breast
BRIP1-related disorder
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA288511

rs_587780226

13 SubmittersRCV000116121 RCV000210150 RCV000699261 RCV001787088 RCV003162547 RCV003315646 RCV003483484 RCV005359106 RCV005430125

NM_032043.3(BRIP1):c.1357G>A (p.Ala453Thr)

SNV
Germline

Chr17:61793713

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA288514

rs_587780227

9 SubmittersRCV000116122 RCV000221894 RCV000524937 RCV002465521 RCV004567028 RCV005359107

NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)

SNV
Germline

Chr17:61793698

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Familial ovarian cancer
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA288517

rs_587780228

15 SubmittersRCV000116123 RCV000212309 RCV000473135 RCV000781186 RCV001781450 RCV005359108 RCV005430126

NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)

SNV
Germline

Chr17:61780899

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Fanconi anemia complementation group J
not specified
Familial cancer of breast
BRIP1-related disorder
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA288532

rs_28997571

15 SubmittersRCV000116130 RCV000196018 RCV000212315 RCV000412043 RCV001192970 RCV003315649 RCV004528811 RCV005430129

NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)

SNV
Germline

Chr17:61744456

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
BRIP1-related disorder
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA208855

rs_587780235

19 SubmittersRCV000116137 RCV000194594 RCV000477497 RCV000586157 RCV001762241 RCV004732686 RCV005430132

NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met)

SNV
Germline

Chr17:61686035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA288567

rs_587780244

9 SubmittersRCV000116148 RCV000212329 RCV000229209 RCV000410789 RCV000656814 RCV003315654 RCV005430137

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
Fanconi anemia complementation group J
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
BRIP1-related disorder
Breast and/or ovarian cancer
Familial ovarian cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA288570

rs_140233356

19 SubmittersRCV000116149 RCV000199089 RCV000411198 RCV000585934 RCV001030467 RCV000855583 RCV003315655 RCV004529951 RCV003492507 RCV005359111 RCV005430138

NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His)

SNV
Germline

Chr17:61683942

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
not specified
Familial cancer of breast
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA288579

rs_367816363

9 SubmittersRCV000116152 RCV000206801 RCV000212333 RCV000781175 RCV003315656 RCV005430139

NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)

SNV
Germline

Chr17:61857121

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian neoplasm
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Ovarian cancer
BRIP1-related disorder
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA288582

rs_587780247

18 SubmittersRCV000205068 RCV000116153 RCV000212298 RCV000409171 RCV000411175 RCV000990040 RCV000780051 RCV005430140 RCV004529952 RCV005359112

NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)

SNV
Germline

Chr17:61683810

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
BRIP1-related disorder
Inherited ovarian cancer (without breast cancer)
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA288585

rs_150813402

10 SubmittersRCV000116154 RCV000204707 RCV000218787 RCV000780057 RCV003315657 RCV004732687 RCV005237555 RCV005430141

NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)

SNV
Germline

Chr17:61683715

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
not specified
Malignant tumor of breast
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA288588

rs_587780248

11 SubmittersRCV000116155 RCV000204181 RCV000214821 RCV000409119 RCV001194197 RCV001354313 RCV003315658 RCV005430142

NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)

SNV
Germline

Chr17:61683668

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Malignant tumor of breast
BRIP1-related disorder
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA288591

rs_145855459

14 SubmittersRCV000116156 RCV000212334 RCV000410562 RCV000587193 RCV000989979 RCV001080937 RCV001354736 RCV004529953 RCV005430143

NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)

SNV
Germline

Chr17:61683582

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Fanconi anemia complementation group J
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA288597

rs_45603843

14 SubmittersRCV000116158 RCV000200049 RCV000662347 RCV001535683 RCV003150947 RCV003315659 RCV005430144 RCV005600683

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
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Cervical cancer
Familial cancer of breast
Fanconi anemia complementation group J
Malignant tumor of breast
Familial cancer of breast
Breast and/or ovarian cancer
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA288606

rs_550707862

16 SubmittersRCV000116163 RCV000235147 RCV000586611 RCV001030546 RCV001127949 RCV001356235 RCV001082539 RCV001356416 RCV004786373 RCV003149814 RCV004529954

NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)

SNV
Germline

Chr17:61808595

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Malignant tumor of breast
Ovarian cancer
Breast and/or ovarian cancer
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA157728

rs_28997569

23 SubmittersRCV000116164 RCV000120409 RCV000411226 RCV000679792 RCV000515771 RCV001082519 RCV001269494 RCV005430148 RCV001798362 RCV004528813

NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)

SNV
Germline

Chr17:61808495

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Malignant tumor of breast
Breast and/or ovarian cancer
BRIP1-related disorder
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA151532

rs_28997570

25 SubmittersRCV000116167 RCV000120408 RCV000412293 RCV000590718 RCV000990022 RCV001084039 RCV001354244 RCV001798363 RCV004732688 RCV005430150

NM_032043.3(BRIP1):c.993G>A (p.Met331Ile)

SNV
Germline

Chr17:61801400

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
not specified

Criteria Provided
Conflicting Classifications

CA288615

rs_587780252

7 SubmittersRCV000116168 RCV000771331 RCV000636062 RCV002267858

NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)

SNV
Germline

Chr17:58734193

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Condition: not provided
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA288618

rs_587780253

14 SubmittersRCV000116171 RCV000212951 RCV000227763 RCV000302331 RCV000709519 RCV000662871 RCV001704017 RCV005600687

NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)

SNV
Germline

Chr17:58692657

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-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA288621

rs_201523760

11 SubmittersRCV000116172 RCV000123370 RCV000411171 RCV000590726 RCV002307397 RCV002483192

NM_058216.3(RAD51C):c.406A>T (p.Met136Leu)

SNV
Germline

Chr17:58696694

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Microcephaly
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA331898

rs_587780254

12 SubmittersRCV000205234 RCV000116173 RCV000571441 RCV001030586 RCV001192876 RCV001252722 RCV002477288 RCV003239288 RCV005600688

NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)

SNV
Germline

Chr17:58696716

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
RAD51C-related disorder
Familial ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA331901

rs_587780255

18 SubmittersRCV000116174 RCV000123374 RCV000200995 RCV000663261 RCV001818287 RCV003330081 RCV004529955 RCV005600689 RCV005251064

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
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA288624

rs_587780256

19 SubmittersRCV000116175 RCV000199007 RCV000412269 RCV000588889 RCV004556053 RCV001358061 RCV002267859 RCV003492509

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
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Breast and/or ovarian cancer
not specified
RAD51C-related disorder
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA331904

rs_587780257

14 SubmittersRCV000116176 RCV000206409 RCV000212940 RCV000662721 RCV000709506 RCV001356484 RCV001798364 RCV003323404 RCV004529956 RCV004808579

NM_058216.3(RAD51C):c.706-2A>G

SNV
Germline

Chr17:58709857

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Ovarian neoplasm
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
RAD51C-related disorder
Familial ovarian cancer
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA288628

rs_587780259

26 SubmittersRCV000116178 RCV000254687 RCV000234445 RCV000456123 RCV000785234 RCV001194262 RCV000576612 RCV004528814 RCV005600690 RCV005625295

NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)

SNV
Germline

Chr17:58709937

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
RAD51C-related disorder
Malignant tumor of breast
Breast and/or ovarian cancer
Ovarian neoplasm
not specified

Criteria Provided
Conflicting Classifications

CA331905

rs_149331537

19 SubmittersRCV000116179 RCV000206074 RCV000411451 RCV000585995 RCV000765378 RCV000778506 RCV001356788 RCV001798365 RCV001195025 RCV001778711

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
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
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 SubmittersRCV000116180 RCV000194252 RCV000515761 RCV000487827 RCV000662625 RCV000709513 RCV000989962 RCV001270343 RCV001798366 RCV002272129 RCV004528815

NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)

SNV
Germline

Chr17:61744469

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
BRIP1-related disorder
Ovarian cancer
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA157692

rs_45589637

26 SubmittersRCV000120396 RCV000123354 RCV000409608 RCV000131414 RCV001358098 RCV000488342 RCV001798382 RCV000989999 RCV000778128 RCV005430154 RCV003492522

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
Familial cancer of breast
Ovarian cancer
Breast and/or ovarian cancer
Fanconi anemia complementation group J
Ovarian cancer
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA157695

rs_571108955

17 SubmittersRCV000120397 RCV000165749 RCV000475545 RCV000656813 RCV001030536 RCV003315735 RCV003153386 RCV003492523 RCV005430155 RCV005600694

NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)

SNV
Germline

Chr17:61716003

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Malignant tumor of breast
Familial cancer of breast
Breast and/or ovarian cancer
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA157701

rs_201869624

20 SubmittersRCV000120399 RCV000131535 RCV000588835 RCV000709540 RCV001030535 RCV001083712 RCV001356698 RCV003315736 RCV003492524 RCV005430156

NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)

SNV
Germline

Chr17:61685937

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Fanconi anemia complementation group J
Breast and/or ovarian cancer
Familial cancer of breast
Inherited ovarian cancer (without breast cancer)
Ovarian cancer
Fanconi anemia complementation group J
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA157707

rs_4988356

15 SubmittersRCV000120401 RCV000213879 RCV000468023 RCV000656815 RCV003144130 RCV003149827 RCV003315737 RCV004584195 RCV005430158 RCV005359136

NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)

SNV
Germline

Chr17:61683602

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Familial ovarian cancer
Fanconi anemia complementation group J
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA157710

rs_28997573

24 SubmittersRCV000120402 RCV000131003 RCV000204453 RCV000411479 RCV000589005 RCV000989978 RCV001535623 RCV003149828 RCV005089595 RCV005430159

NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)

SNV
Germline

Chr17:61847211

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Ovarian cancer
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA157719

rs_4988345

25 SubmittersRCV000120405 RCV000512967 RCV000129172 RCV000410168 RCV000990031 RCV001082598 RCV005430161 RCV001355393 RCV001798383

NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter)

SNV
Germline

Chr17:61801429

Pathogenic

not specified
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA157732

rs_587778139

3 SubmittersRCV000120411 RCV001854601 RCV003335108

NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu)

SNV
Germline

Chr16:13948141

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Inborn genetic diseases
Ovarian cancer
Xeroderma pigmentosum, group F
Xeroderma pigmentosum
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA158873

rs_374186605

7 SubmittersRCV000120810 RCV000535348 RCV002515858 RCV003153389 RCV003315749 RCV002257428 RCV002470769

NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)

SNV
Germline

Chr16:13948175

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Inborn genetic diseases
Condition: not provided
Hereditary cancer-predisposing syndrome
Xeroderma pigmentosum
Hutchinson-Gilford syndrome

Criteria Provided
Conflicting Classifications

CA158876

rs_4986933

11 SubmittersRCV000120811 RCV000476568 RCV000989535 RCV002515859 RCV004704960 RCV005251066 RCV002257429 RCV001034545

NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg)

SNV
Germline

Chr16:13948330

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Condition: not provided
Xeroderma pigmentosum, group F

Criteria Provided
Conflicting Classifications

CA158885

rs_150077735

5 SubmittersRCV000120814 RCV000474309 RCV001356061 RCV003315750

NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)

SNV
Germline

Chr16:13947713

Conflicting classifications of pathogenicity

not specified
XFE progeroid syndrome
ERCC4-related disorder
Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA158888

rs_1800069

13 SubmittersRCV000120815 RCV001332584 RCV003915202 RCV001121237 RCV000463526 RCV005251067 RCV001788036 RCV002257430 RCV001354835 RCV002515860

NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)

SNV
Germline

Chr16:13922034

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA158897

rs_145315496

5 SubmittersRCV000120818 RCV001209805 RCV001543122 RCV000728799

NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)

SNV
Germline

Chr16:13934224

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
XFE progeroid syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Hereditary cancer-predisposing syndrome
Xeroderma pigmentosum
ERCC4-related disorder

Criteria Provided
Conflicting Classifications

CA158906

rs_1799802

12 SubmittersRCV000120821 RCV000224511 RCV001116216 RCV003224157 RCV001083882 RCV005251068 RCV002257432 RCV003925183

NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)

SNV
Germline

Chr16:13935420

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Xeroderma pigmentosum
Condition: not provided
Hutchinson-Gilford syndrome
Inborn genetic diseases
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA158912

rs_146601373

10 SubmittersRCV000120823 RCV000459235 RCV001117661 RCV002258800 RCV004704961 RCV001034544 RCV002515862 RCV005251069

NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)

SNV
Germline

Chr16:13935347

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
XFE progeroid syndrome
Fanconi anemia complementation group Q
Condition: not provided
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA158918

rs_572439259

5 SubmittersRCV000120825 RCV005394415 RCV005229925 RCV000651482 RCV001294104

NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)

SNV
Germline

Chr16:13935495

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
XFE progeroid syndrome
Fanconi anemia complementation group Q
Fanconi anemia complementation group Q
Condition: not provided
ERCC4-related disorder
Hereditary cancer-predisposing syndrome
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA158921

rs_41552412

13 SubmittersRCV000120826 RCV000343662 RCV000546465 RCV000764023 RCV001292825 RCV001355143 RCV003975071 RCV005251070 RCV002258801

NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)

SNV
Germline

Chr16:13935538

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA158933

rs_143347563

4 SubmittersRCV000120830 RCV000989533 RCV001854624 RCV004786378

NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)

SNV
Germline

Chr16:13935659

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Condition: not provided
Xeroderma pigmentosum
Xeroderma pigmentosum, group F
XFE progeroid syndrome
Fanconi anemia complementation group Q
Fanconi anemia complementation group Q
Inborn genetic diseases
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA158936

rs_1800068

14 SubmittersRCV000120831 RCV000651477 RCV001119237 RCV001357601 RCV002257433 RCV002055332 RCV001294105 RCV002515863 RCV005251071

NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)

SNV
Germline

Chr16:89799202

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA159229

rs_13336566

9 SubmittersRCV000120911 RCV000469548 RCV001115652 RCV001509536 RCV003905153

NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)

SNV
Germline

Chr16:89799197

Pathogenic

not specified
Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA159232

rs_148100796

11 SubmittersRCV000120912 RCV000474583 RCV000665641 RCV001818291 RCV003925189

NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)

SNV
Germline

Chr16:89792505

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA159238

rs_199967286

6 SubmittersRCV000120914 RCV001120561 RCV001239310

NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)

SNV
Germline

Chr16:89773277

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group A
Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA159260

rs_587778312

6 SubmittersRCV000120922 RCV000667865 RCV001243928 RCV004975281

NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)

SNV
Germline

Chr16:89771757

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
not specified
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA159263

rs_367880372

7 SubmittersRCV001271604 RCV000120923 RCV000707539 RCV004998239

NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)

SNV
Germline

Chr16:89771728

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA159266

rs_56369086

8 SubmittersRCV000120924 RCV000233082 RCV001333235 RCV002225374 RCV003952596

NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)

SNV
Germline

Chr16:89767175

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA159284

rs_370085403

7 SubmittersRCV000120931 RCV000668295 RCV000766439 RCV001447411 RCV003398726 RCV004975282

NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)

SNV
Germline

Chr16:89758581

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Condition: not provided
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA159299

rs_140823801

8 SubmittersRCV000120936 RCV000862981 RCV001276514 RCV004975283 RCV003477505 RCV003975072

NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)

SNV
Germline

Chr16:89746670

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA159310

rs_61753269

12 SubmittersRCV000120940 RCV000474415 RCV002293419 RCV003444203 RCV003965014 RCV004619201

NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)

SNV
Germline

Chr16:89745061

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Hepatoblastoma
FANCA-related disorder
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA159313

rs_147017625

8 SubmittersRCV000120941 RCV000226225 RCV001843480 RCV003935154 RCV003147340 RCV003477506

NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)

SNV
Germline

Chr16:89745002

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA332149

rs_143642304

12 SubmittersRCV000120942 RCV000204450 RCV001115378 RCV003952597 RCV003407512 RCV004975284

NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln)

SNV
Germline

Chr16:89745001

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA159319

rs_138013482

8 SubmittersRCV000120944 RCV000862979 RCV001274558 RCV003477508 RCV003975073 RCV004975285

NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)

SNV
Germline

Chr16:89811047

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA159334

rs_147176389

5 SubmittersRCV000120950 RCV000537860 RCV003477509 RCV003144133

NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)

SNV
Germline

Chr16:89739285

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA159343

rs_149775657

10 SubmittersRCV000120953 RCV000666660 RCV000824570 RCV003477510 RCV004742266

NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)

SNV
Germline

Chr16:89738893

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
FANCA-related disorder
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA248738

rs_17227403

17 SubmittersRCV000120955 RCV000226145 RCV003915205 RCV001115284 RCV001552904

NM_000135.4(FANCA):c.480G>A (p.Met160Ile)

SNV
Germline

Chr16:89810749

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA159359

rs_200603300

7 SubmittersRCV000120959 RCV000465739 RCV003237725 RCV004786379

NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)

SNV
Germline

Chr16:89808337

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA159364

rs_587778323

8 SubmittersRCV000120961 RCV000672751 RCV002055335 RCV003477512 RCV004742267 RCV004975287

NM_000136.3(FANCC):c.1063G>C (p.Asp355His)

SNV
Germline

Chr9:95117324

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA159384

rs_587778325

4 SubmittersRCV000120968 RCV000766565 RCV001009799 RCV001300842

NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)

SNV
Germline

Chr9:95111636

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Fanconi anemia complementation group C
Fanconi anemia complementation group A
Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA159387

rs_41281202

11 SubmittersRCV000224016 RCV000120969 RCV000709083 RCV000988205 RCV000566496 RCV001082314

NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg)

SNV
Germline

Chr9:95107185

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA332152

rs_201063698

10 SubmittersRCV000120972 RCV000205771 RCV001011455 RCV001310662 RCV001509574

NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)

SNV
Germline

Chr9:95249215

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia
Fanconi anemia complementation group C
Fanconi anemia complementation group A
Malignant tumor of breast
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA159399

rs_1800361

24 SubmittersRCV000120974 RCV000513630 RCV000573438 RCV001083879 RCV001168031 RCV000988227 RCV001357504 RCV003891642

NM_000136.3(FANCC):c.584A>T (p.Asp195Val)

SNV
Germline

Chr9:95150025

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group C
Fanconi anemia complementation group A
Fanconi anemia
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA247025

rs_1800365

27 SubmittersRCV000120978 RCV000124962 RCV000179716 RCV000667368 RCV000988215 RCV001083500 RCV001356570

NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)

SNV
Germline

Chr3:10062161

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group D2
Condition: not provided
Malignant tumor of breast
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA159438

rs_147523071

14 SubmittersRCV000120987 RCV000459559 RCV000764454 RCV001541664 RCV001004843 RCV003415914

NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)

SNV
Germline

Chr6:35452597

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group E
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA159522

rs_552241929

6 SubmittersRCV000121005 RCV000687310 RCV002257437 RCV003237728

NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)

SNV
Germline

Chr6:35457944

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group E
Exstrophy-epispadias complex
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA159535

rs_139600847

6 SubmittersRCV000121010 RCV000689014 RCV003389394 RCV003153392

NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser)

SNV
Germline

Chr6:35458422

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group E

Criteria Provided
Conflicting Classifications

CA159539

rs_141268133

4 SubmittersRCV000121012 RCV001153476

NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg)

SNV
Germline

Chr6:35458345

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA159545

rs_45524646

7 SubmittersRCV000121014 RCV000231935 RCV001194808

NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)

SNV
Germline

Chr6:35460568

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group E
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA159554

rs_141551053

9 SubmittersRCV000121017 RCV000229190 RCV003153393

NM_022725.4(FANCF):c.373G>A (p.Asp125Asn)

SNV
Germline

Chr11:22625438

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Condition: not provided
Fanconi anemia complementation group F

Criteria Provided
Conflicting Classifications

CA159581

rs_61752920

10 SubmittersRCV000121028 RCV000232655 RCV000857633 RCV001094015

NM_022725.4(FANCF):c.728G>A (p.Gly243Glu)

SNV
Germline

Chr11:22625083

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA159584

rs_150216454

3 SubmittersRCV000121029 RCV000457324

NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)

SNV
Germline

Chr9:35079505

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA159593

rs_35984312

7 SubmittersRCV000121032 RCV000227360 RCV001166630 RCV002262715

NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg)

SNV
Germline

Chr9:35075741

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group G
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA159597

rs_141147618

6 SubmittersRCV000121034 RCV000630846 RCV001271366 RCV001507747 RCV003153395

NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)

SNV
Germline

Chr9:35078285

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Conflicting Classifications

CA159610

rs_546023787

5 SubmittersRCV000121039 RCV000631014 RCV001166627

NM_005236.3(ERCC4):c.2017+1G>A

SNV
Germline

Chr16:13944836

Likely pathogenic

not specified
Xeroderma pigmentosum, group F
XFE progeroid syndrome
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

CA162991

rs_587777943

2 SubmittersRCV000122394 RCV005016423

NM_000135.4(FANCA):c.80-13C>T

SNV
Germline

Chr16:89815999

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162999

rs_189841793

7 SubmittersRCV000122402 RCV001120659 RCV001513153 RCV002055375

NM_000136.3(FANCC):c.166-2A>G

SNV
Germline

Chr9:95247518

Pathogenic/Likely pathogenic

not specified
Hereditary cancer-predisposing syndrome
FANCC-related disorder
Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

CA163000

rs_587777945

6 SubmittersRCV000122403 RCV002399490 RCV003407527 RCV003522928 RCV001729399

NM_024675.4(PALB2):c.12T>C (p.Pro4=)

SNV
Germline

Chr16:23641146

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA299688

rs_567706422

14 SubmittersRCV000123332 RCV000160826 RCV000212765 RCV000858740 RCV001121824

NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)

SNV
Germline

Chr16:23634909

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related disorder
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA332967

rs_148647206

9 SubmittersRCV000123333 RCV000215046 RCV000589758 RCV004739425 RCV002492444

NM_024675.4(PALB2):c.2087C>T (p.Thr696Met)

SNV
Germline

Chr16:23630067

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA170045

rs_587780820

11 SubmittersRCV000123336 RCV000132543 RCV001030277 RCV004530058 RCV005016426 RCV003492552

NM_024675.4(PALB2):c.2571G>A (p.Leu857=)

SNV
Germline

Chr16:23629219

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA332973

rs_587780821

6 SubmittersRCV000123339 RCV000486288 RCV000560973 RCV001535717

NM_024675.4(PALB2):c.769G>A (p.Gly257Ser)

SNV
Germline

Chr16:23635777

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
PALB2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA194606

rs_587780824

9 SubmittersRCV000123344 RCV000165945 RCV003226206 RCV003492553 RCV005394457 RCV004530060 RCV004589611

NM_032043.3(BRIP1):c.1473+6A>G

SNV
Germline

Chr17:61793591

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA332986

rs_587780827

9 SubmittersRCV000123349 RCV000580346 RCV001618289 RCV001818297 RCV003315825 RCV000411067 RCV005430169

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
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294179

rs_587780828

12 SubmittersRCV000123350 RCV000130219 RCV000212313 RCV003483490 RCV003144134 RCV003477525 RCV004786386

NM_032043.3(BRIP1):c.2097+7G>A

SNV
Germline

Chr17:61776394

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast
Fanconi anemia complementation group J
Familial cancer of breast
Breast and/or ovarian cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA289756

rs_4988352

26 SubmittersRCV000123353 RCV000124038 RCV000412184 RCV000579602 RCV000990005 RCV001354110 RCV001079247 RCV001798408 RCV005430171

NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)

SNV
Germline

Chr17:61684004

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA187582

rs_188258913

13 SubmittersRCV000123357 RCV000163156 RCV001778741 RCV002272135 RCV001284118 RCV005359168 RCV004530061

NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)

SNV
Germline

Chr17:61683771

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia complementation group J
Ovarian cancer
Familial cancer of breast
Condition: not provided
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA165900

rs_587780830

10 SubmittersRCV000123358 RCV000130186 RCV000442394 RCV004584610 RCV005430172 RCV003315827 RCV001284121 RCV004732691

NM_032043.3(BRIP1):c.612C>G (p.Ser204=)

SNV
Germline

Chr17:61847116

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA332993

rs_587780832

7 SubmittersRCV000123362 RCV000410021 RCV000776533 RCV000603905 RCV003315828 RCV005430173

NM_032043.3(BRIP1):c.627+1G>A

SNV
Germline

Chr17:61847100

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA298834

rs_587780833

4 SubmittersRCV000123363 RCV000160322 RCV000223616

NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)

SNV
Germline

Chr17:61808607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Fanconi anemia complementation group J
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA298928

rs_138743097

14 SubmittersRCV000160362 RCV000123365 RCV000586716 RCV001125839 RCV002267867 RCV002225394 RCV003149846 RCV005359169

NM_058216.3(RAD51C):c.408G>A (p.Met136Ile)

SNV
Germline

Chr17:58696696

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
RAD51C-related disorder
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA333000

rs_587780836

7 SubmittersRCV000123372 RCV000215144 RCV004530062 RCV001582597 RCV002466441 RCV005600699

NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr)

SNV
Germline

Chr17:58696811

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA333006

rs_587780838

15 SubmittersRCV000123375 RCV000160928 RCV000212941 RCV000709504 RCV000780670 RCV003467097 RCV005016427 RCV005600700

NM_058216.3(RAD51C):c.721G>A (p.Val241Met)

SNV
Germline

Chr17:58709874

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
not specified
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Breast and/or ovarian cancer
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA294419

rs_184033132

16 SubmittersRCV000123377 RCV000131648 RCV000212946 RCV001122912 RCV000781787 RCV002477324 RCV003492554 RCV005600701

NM_032043.3(BRIP1):c.380-17T>A

SNV
Germline

Chr17:61849273

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289740

rs_200050729

13 SubmittersRCV000124025 RCV000580079 RCV000679789 RCV001397865 RCV003149853 RCV005235028

NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)

SNV
Germline

Chr17:61683587

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast
BRIP1-related disorder
Ovarian cancer
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA289745

rs_4987050

18 SubmittersRCV000124030 RCV000411782 RCV000212336 RCV001082541 RCV000679785 RCV000989977 RCV004732693 RCV005430177 RCV001798415

NM_032043.3(BRIP1):c.-30-3T>C

SNV
Germline

Chr17:61861572

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA289748

rs_370728413

9 SubmittersRCV000124031 RCV001122188 RCV001689674 RCV000990046 RCV000580838

NM_032043.3(BRIP1):c.36G>T (p.Gly12=)

SNV
Germline

Chr17:61861504

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Breast and/or ovarian cancer
Condition: not provided
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA289749

rs_45566938

14 SubmittersRCV000124032 RCV000410111 RCV000212296 RCV001086934 RCV001798416 RCV000588076 RCV003315841 RCV005430178

NM_032043.3(BRIP1):c.1629-11T>C

SNV
Germline

Chr17:61781016

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA289755

rs_375710640

9 SubmittersRCV000124036 RCV002055435 RCV003315843 RCV000383630 RCV000580125 RCV005430180

NM_000136.3(FANCC):c.672C>T (p.Asn224=)

SNV
Germline

Chr9:95149937

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA290809

rs_150647141

8 SubmittersRCV000124963 RCV000227447 RCV000566669 RCV001165846 RCV001356398

NM_000136.3(FANCC):c.705C>T (p.Pro235=)

SNV
Germline

Chr9:95135484

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
Condition: not provided
Malignant tumor of breast
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA290812

rs_141828876

15 SubmittersRCV000124964 RCV000199490 RCV000564470 RCV001095300 RCV001195050 RCV001355936 RCV003975106

NM_000136.3(FANCC):c.1073-5C>T

SNV
Germline

Chr9:95114715

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA290822

rs_375613884

4 SubmittersRCV000124968 RCV000380041 RCV000568936 RCV001095360

NM_058216.3(RAD51C):c.145+12T>G

SNV
Germline

Chr17:58692800

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA293026

rs_377297129

16 SubmittersRCV000127693 RCV000579441 RCV001354401 RCV000410695 RCV000411797 RCV001195010 RCV003149869

NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter)

SNV
Germline

Chr17:58724090

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA163579

rs_587781287

11 SubmittersRCV000128973 RCV000501924 RCV000230603 RCV000483841 RCV005016428

NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)

SNV
Germline

Chr17:61859868

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer
Fanconi anemia complementation group J
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA163617

rs_587781292

11 SubmittersRCV000128992 RCV003315866 RCV005430181 RCV000196974 RCV001798433 RCV005055595 RCV000482088

NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)

SNV
Germline

Chr17:61683943

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
Ovarian cancer
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA163643

rs_45437094

19 SubmittersRCV000129008 RCV000590794 RCV001081667 RCV000410906 RCV001800423 RCV001355322 RCV003149886 RCV003315867 RCV005430182 RCV004532542

NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)

SNV
Germline

Chr17:61683897

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Familial ovarian cancer
Condition: not provided
not specified
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA163667

rs_373040333

11 SubmittersRCV000129015 RCV000197620 RCV003315868 RCV005359194 RCV000213740 RCV005055596 RCV005430183

NM_058216.3(RAD51C):c.80T>C (p.Leu27Pro)

SNV
Germline

Chr17:58692723

Conflicting classifications of pathogenicity

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, 2

Criteria Provided
Conflicting Classifications

CA163703

rs_587781309

8 SubmittersRCV000129034 RCV000552582 RCV004567075 RCV001555080 RCV005604781

NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)

SNV
Germline

Chr17:58703201

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Inherited ovarian cancer (without breast cancer)
Condition: not provided
RAD51C-related disorder
Breast carcinoma
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA333162

rs_200293302

20 SubmittersRCV000576579 RCV000590531 RCV000129056 RCV000203684 RCV004691760 RCV000212943 RCV000778126 RCV001554248 RCV002288621

NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)

SNV
Germline

Chr17:61780325

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Malignant tumor of breast
Fanconi anemia complementation group J
Ovarian cancer
Hereditary breast ovarian cancer syndrome
BRIP1-associated familial cancer predisposition
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA293947

rs_587781321

15 SubmittersRCV000129060 RCV000254651 RCV000228701 RCV003315870 RCV003387506 RCV005430184 RCV000589135 RCV003335111 RCV001781464

NM_032043.3(BRIP1):c.3025G>A (p.Gly1009Arg)

SNV
Germline

Chr17:61684021

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
not specified

Criteria Provided
Conflicting Classifications

CA163764

rs_587781328

4 SubmittersRCV000129073 RCV000636097 RCV003321509

NM_024675.4(PALB2):c.1697G>C (p.Arg566Pro)

SNV
Germline

Chr16:23630457

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA163866

rs_144617793

7 SubmittersRCV000129134 RCV001775617 RCV000476315 RCV005394468

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
Familial ovarian cancer
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA163967

rs_587781383

15 SubmittersRCV000129215 RCV000167882 RCV000409379 RCV000588471 RCV001778747 RCV005600704 RCV001798436 RCV002509232 RCV005016431

NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn)

SNV
Germline

Chr17:61684098

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA164119

rs_587781417

8 SubmittersRCV000129283 RCV003315873 RCV000412403 RCV005430185 RCV000636117 RCV001775619 RCV005359204

NM_007294.4(BRCA1):c.2119G>C (p.Gly707Arg)

SNV
Germline

Chr17:43093412

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
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

CA001397

rs_587781420

6 SubmittersRCV000129290 RCV005016433 RCV001214917 RCV001800426

NM_032043.3(BRIP1):c.823A>G (p.Ile275Val)

SNV
Germline

Chr17:61808562

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Breast and/or ovarian cancer
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA164166

rs_587781425

12 SubmittersRCV000129307 RCV000485268 RCV000473432 RCV002288624 RCV003492588 RCV005430186

NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)

SNV
Germline

Chr13:32394865

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
Fanconi anemia complementation group D1
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA026155

rs_587776476

11 SubmittersRCV000144220 RCV000129373 RCV000499802 RCV001353675 RCV001088631 RCV001114170 RCV004532550

NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter)

SNV
Germline

Chr17:58696790

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian neoplasm
Fanconi anemia complementation group O
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 3
Endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA294043

rs_587781490

9 SubmittersRCV000129454 RCV000212939 RCV000785447 RCV000648252 RCV001271006 RCV003467108 RCV003128148

NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala)

SNV
Germline

Chr17:58720770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA164765

rs_587781574

8 SubmittersRCV000129608 RCV000410493 RCV000986013 RCV000411492

NM_032043.3(BRIP1):c.2689A>G (p.Lys897Glu)

SNV
Germline

Chr17:61686052

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA165061

rs_587781644

4 SubmittersRCV000129774 RCV000478765 RCV001088100

NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln)

SNV
Germline

Chr17:61849151

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA165098

rs_61757643

6 SubmittersRCV000129791 RCV000424619 RCV000466396 RCV003387768

NM_032043.3(BRIP1):c.918+1G>A

SNV
Germline

Chr17:61808466

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer, susceptibility to, 1
Fanconi anemia complementation group J
Familial cancer of breast
Breast and/or ovarian cancer
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA165105

rs_587781655

14 SubmittersRCV000129793 RCV000434292 RCV000472419 RCV005256567 RCV001781468 RCV003335113 RCV003492592 RCV005600715

NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)

SNV
Germline

Chr17:58703264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
not specified
Ovarian cancer
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 3
RAD51C-related disorder

Criteria Provided
Conflicting Classifications

CA294121

rs_140804406

14 SubmittersRCV000129799 RCV000204512 RCV000212945 RCV000662365 RCV000781795 RCV003153419 RCV003492593 RCV003315883 RCV004734671

NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)

SNV
Germline

Chr17:61683809

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA165144

rs_587781666

9 SubmittersRCV000129821 RCV000780068 RCV000200144 RCV003315884 RCV000758998 RCV005430187

NM_058216.3(RAD51C):c.563A>T (p.Lys188Met)

SNV
Germline

Chr17:58696851

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA165187

rs_587781680

7 SubmittersRCV000129840 RCV000648258 RCV003105794 RCV001818306

NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)

SNV
Germline

Chr17:61799200

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
BRIP1-associated familial cancer predisposition
Familial cancer of breast
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA165277

rs_368796923

10 SubmittersRCV000129878 RCV000445256 RCV000701846 RCV000409609 RCV003335116 RCV000781179 RCV005430188

NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)

SNV
Germline

Chr17:61683395

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Hereditary cancer
not specified

Criteria Provided
Conflicting Classifications

CA165328

rs_542698396

11 SubmittersRCV000129907 RCV000227303 RCV000657056 RCV000989972 RCV003492594 RCV004595931

NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)

SNV
Germline

Chr17:61849173

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA165590

rs_587781786

6 SubmittersRCV000130041 RCV000213568 RCV000699984 RCV003335119

NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)

SNV
Germline

Chr17:61693462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Ovarian cancer
Neurodevelopmental delay
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA165626

rs_374334794

13 SubmittersRCV000130056 RCV000699539 RCV001194712 RCV001255230 RCV004760390 RCV005430189 RCV002273958 RCV003460909

NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg)

SNV
Germline

Chr13:32379396

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
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025844

rs_587781800

11 SubmittersRCV000130065 RCV000410010 RCV000462799 RCV000487119 RCV001112819 RCV001193118 RCV004567103 RCV004804146

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
Hereditary breast ovarian cancer syndrome
Endometrial carcinoma
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA165693

rs_587781818

11 SubmittersRCV000130094 RCV000226926 RCV000302799 RCV001030649 RCV001358211 RCV000842453 RCV001030271

NM_058216.3(RAD51C):c.537C>A (p.His179Gln)

SNV
Germline

Chr17:58696825

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA165707

rs_372385738

8 SubmittersRCV000130100 RCV000462239 RCV000662674 RCV005417968 RCV003441750 RCV003315885

NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser)

SNV
Germline

Chr16:23635182

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA294158

rs_587781824

7 SubmittersRCV000130104 RCV000409652 RCV000212792 RCV001116859

NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)

SNV
Germline

Chr17:61808657

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA165876

rs_587781860

13 SubmittersRCV000130174 RCV000473070 RCV000484934 RCV000709557 RCV000990023 RCV003321513 RCV003492596

NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)

SNV
Germline

Chr17:61683748

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA166081

rs_587781923

10 SubmittersRCV000130274 RCV000546539 RCV000989980 RCV005055076 RCV001284122 RCV002267875

NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)

SNV
Germline

Chr16:23630398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA166193

rs_587781954

10 SubmittersRCV000130326 RCV000411835 RCV000481375 RCV000764051 RCV001798444

NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)

SNV
Germline

Chr17:61716002

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Familial cancer of breast
Malignant tumor of breast
Familial ovarian cancer
not specified
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA166286

rs_45468199

13 SubmittersRCV000130375 RCV000218503 RCV001030534 RCV000234009 RCV000410258 RCV003315890 RCV001356230 RCV005600722 RCV003320104 RCV005430192

NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)

SNV
Germline

Chr17:61808757

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
not specified
Familial cancer of breast
BRIP1-related disorder
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA166320

rs_150313156

11 SubmittersRCV000130394 RCV000200420 RCV000590600 RCV001290444 RCV003315892 RCV004532557 RCV005430195

NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)

SNV
Germline

Chr16:23614059

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
not specified
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA166426

rs_138273800

18 SubmittersRCV000130431 RCV000204730 RCV000482622 RCV001355887 RCV001194140 RCV002505109 RCV003389456 RCV003444205 RCV004544294

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
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003629

rs_587782026

8 SubmittersRCV000130459 RCV000168345 RCV000481196 RCV000765356 RCV001076289

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
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA2-related disorder
Familial cancer of breast
8 conditions

Criteria Provided
Conflicting Classifications

CA025840

rs_373227180

15 SubmittersRCV000130462 RCV000356690 RCV000409083 RCV000233879 RCV000780004 RCV001775622 RCV004532561 RCV004567114 RCV005008035

NM_058216.3(RAD51C):c.405-1G>C

SNV
Germline

Chr17:58696692

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA333229

rs_587782036

7 SubmittersRCV000130492 RCV000204135 RCV000576619 RCV002291568 RCV003315894

NM_058216.3(RAD51C):c.968T>G (p.Leu323Trp)

SNV
Germline

Chr17:58732486

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA166555

rs_587782045

7 SubmittersRCV000130508 RCV000475164 RCV000484566 RCV004567116

NM_032043.3(BRIP1):c.93+1G>T

SNV
Germline

Chr17:61861446

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA166569

rs_587782047

10 SubmittersRCV000130514 RCV000223400 RCV000558720 RCV003335121

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
Malignant tumor of breast
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA010932

rs_371454630

12 SubmittersRCV000130560 RCV000195524 RCV000238792 RCV000500188 RCV001353620 RCV001112103 RCV001170455 RCV002227070 RCV004532563

NM_032043.3(BRIP1):c.380-5A>G

SNV
Germline

Chr17:61849261

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
BRIP1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA166877

rs_587782131

11 SubmittersRCV000130674 RCV000547580 RCV000990037 RCV000985642 RCV004532564 RCV005229965

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
not specified
BRCA1-related cancer predisposition
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001739

rs_587782134

9 SubmittersRCV000130679 RCV000500522 RCV000793766 RCV004700443 RCV004804155 RCV005016444

NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)

SNV
Germline

Chr16:23607907

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast and/or ovarian cancer
not specified
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA166991

rs_201657283

12 SubmittersRCV000130728 RCV000226292 RCV000483048 RCV000764042 RCV003149901 RCV001194142 RCV003153422

NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)

SNV
Germline

Chr17:61793628

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Familial cancer of breast
BRIP1-related disorder
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA294222

rs_200062099

16 SubmittersRCV000130729 RCV000212311 RCV000469846 RCV000780054 RCV003315897 RCV004732695 RCV001030540 RCV001124864 RCV005430196

NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)

SNV
Germline

Chr16:23635989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA167050

rs_587782164

12 SubmittersRCV000130756 RCV000197454 RCV000588642 RCV003315411 RCV002478396 RCV004595933

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
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA003539

rs_145758886

8 SubmittersRCV000130773 RCV000210112 RCV000637444 RCV005016446

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
PALB2-related disorder
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA294240

rs_146377793

17 SubmittersRCV000130835 RCV000203792 RCV000590502 RCV000855603 RCV002225436 RCV004739448 RCV005016447

NM_024675.4(PALB2):c.734C>T (p.Ala245Val)

SNV
Germline

Chr16:23635812

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA167345

rs_571063157

12 SubmittersRCV000130900 RCV000483902 RCV000200032 RCV001030168 RCV003315412 RCV005394483

NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)

SNV
Germline

Chr17:58695120

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA333232

rs_370212314

11 SubmittersRCV000130920 RCV000236213 RCV000197831 RCV001251311 RCV003462005 RCV003492606 RCV005600726

NM_032043.3(BRIP1):c.2863A>C (p.Asn955His)

SNV
Germline

Chr17:61685878

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Fanconi anemia complementation group J
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA167441

rs_587782244

10 SubmittersRCV000130948 RCV000367894 RCV000464105 RCV001192822 RCV002254681 RCV004532567

NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)

SNV
Germline

Chr17:61780984

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
BRIP1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA167467

rs_587782254

8 SubmittersRCV000130967 RCV000479209 RCV000636069 RCV003462006 RCV004528857 RCV003479016

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
not specified
Fanconi anemia complementation group J
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Ovarian cancer
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA167682

rs_141055990

17 SubmittersRCV000131157 RCV000220964 RCV000231925 RCV000781177 RCV000411077 RCV001356435 RCV002225442 RCV003315902 RCV005430197 RCV004732697

NM_058216.3(RAD51C):c.578G>A (p.Arg193Gln)

SNV
Germline

Chr17:58703202

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA167874

rs_587782332

5 SubmittersRCV000131254 RCV000461701 RCV003114285

NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)

SNV
Germline

Chr17:61716043

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Fanconi anemia complementation group J
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian cancer
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA294369

rs_574552037

17 SubmittersRCV000131417 RCV000205848 RCV000254652 RCV000588697 RCV001270930 RCV002272137 RCV003155923 RCV003335124 RCV005359265

NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)

SNV
Germline

Chr17:61685976

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA168171

rs_587782410

15 SubmittersRCV000216847 RCV000131449 RCV000588116 RCV000410978 RCV002288648 RCV000468535 RCV005430200

NM_032043.3(BRIP1):c.299T>C (p.Met100Thr)

SNV
Germline

Chr17:61857138

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer
Fanconi anemia complementation group J
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA168226

rs_587782427

7 SubmittersRCV000131481 RCV000460063 RCV005359270 RCV005430201 RCV003315907

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
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
See cases
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003651

rs_587782432

12 SubmittersRCV000131490 RCV000533729 RCV001076304 RCV000985444 RCV002251996 RCV005016450 RCV005359271

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
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA168247

rs_180177110

26 SubmittersRCV000131502 RCV000236519 RCV000466579 RCV000824730 RCV001264577 RCV001781472 RCV003162588 RCV003492624 RCV004597749 RCV004739453

NM_032043.3(BRIP1):c.317G>A (p.Arg106His)

SNV
Germline

Chr17:61857120

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Ovarian cancer
Familial cancer of breast
Breast and/or ovarian cancer
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA168409

rs_143615668

14 SubmittersRCV001082225 RCV000131589 RCV000588637 RCV000220020 RCV002225445 RCV005430202 RCV003315912 RCV003492626 RCV004532572

NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro)

SNV
Germline

Chr16:23607894

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA168427

rs_149194681

12 SubmittersRCV000131597 RCV000204289 RCV000235261 RCV001818326 RCV003315413 RCV005394489

NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)

SNV
Germline

Chr17:61784279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA168446

rs_4988349

12 SubmittersRCV000131607 RCV000222534 RCV000781166 RCV000465039 RCV002288649 RCV005430203

NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu)

SNV
Germline

Chr17:61849151

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA168512

rs_61757643

8 SubmittersRCV000131634 RCV001559562 RCV000231093 RCV003315913 RCV005430204 RCV001174711

NM_058216.3(RAD51C):c.835G>C (p.Ala279Pro)

SNV
Germline

Chr17:58709988

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
RAD51C-related disorder

Criteria Provided
Conflicting Classifications

CA168535

rs_587782507

6 SubmittersRCV000131650 RCV000168079 RCV003467178 RCV004532573

NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)

SNV
Germline

Chr16:23607918

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA168538

rs_142132127

23 SubmittersRCV000131652 RCV000235868 RCV000410212 RCV000657014 RCV001294230 RCV002478400 RCV005359278 RCV005411346

NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)

SNV
Germline

Chr13:32363244

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
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025420

rs_587782519

11 SubmittersRCV000239323 RCV000131690 RCV000168172 RCV001114096 RCV000724545 RCV000781102 RCV003462020

NM_032043.3(BRIP1):c.2542C>A (p.Arg848Ser)

SNV
Germline

Chr17:61693463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA294430

rs_45572934

3 SubmittersRCV000131711 RCV000212326 RCV001220332

NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)

SNV
Germline

Chr17:58692740

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Multiple Submitters
No Conflicts

CA294435

rs_587782528

14 SubmittersRCV000212932 RCV000131716 RCV000410098 RCV000589795 RCV000196217 RCV002505114 RCV004808593

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
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA012149

rs_587782535

15 SubmittersRCV000131739 RCV000198082 RCV000586148 RCV001535543 RCV001170456 RCV003321517 RCV003493458

NM_032043.3(BRIP1):c.2576-1G>A

SNV
Germline

Chr17:61686166

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA168685

rs_587782539

5 SubmittersRCV000131744 RCV000763016 RCV003335125

NM_032043.3(BRIP1):c.2380-3T>A

SNV
Germline

Chr17:61716066

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA168696

rs_587782542

2 SubmittersRCV000131750 RCV000701258

NM_032043.3(BRIP1):c.3508C>G (p.Leu1170Val)

SNV
Germline

Chr17:61683538

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA168724

rs_587782552

3 SubmittersRCV000131766 RCV000706879 RCV001030463

NM_058216.3(RAD51C):c.1090A>G (p.Ser364Gly)

SNV
Germline

Chr17:58734181

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Premature ovarian failure
Breast-ovarian cancer, familial, susceptibility to, 3
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA168757

rs_587782565

8 SubmittersRCV000131788 RCV000482155 RCV000232947 RCV005016452 RCV001270237 RCV003462023 RCV005600740

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
Breast-ovarian cancer, familial, susceptibility to, 5
Condition: not provided
PALB2-related disorder
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N

Criteria Provided
Multiple Submitters
No Conflicts

CA168760

rs_587782566

14 SubmittersRCV000131789 RCV000526519 RCV001824643 RCV005359282 RCV004998280 RCV004739459 RCV004796031

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
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026176

rs_587782568

8 SubmittersRCV000131791 RCV000483383 RCV000657154 RCV001110139 RCV001110138 RCV001082356

NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)

SNV
Germline

Chr17:61743015

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA168781

rs_587782574

7 SubmittersRCV000131801 RCV003315916 RCV000519624 RCV000703456 RCV005430205

NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser)

SNV
Germline

Chr16:23629233

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA168790

rs_587782579

10 SubmittersRCV000131807 RCV000230627 RCV000483722 RCV001800443 RCV002478401

NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)

SNV
Germline

Chr17:61685839

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294472

rs_587782679

6 SubmittersRCV000132105 RCV000470512 RCV000989989

NM_058216.3(RAD51C):c.904+5G>T

SNV
Germline

Chr17:58720817

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Hereditary site-specific ovarian cancer syndrome
Breast and/or ovarian cancer
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
RAD51C-related disorder
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA169350

rs_587782702

21 SubmittersRCV000007225 RCV000132144 RCV000225845 RCV000484863 RCV001171471 RCV001798459 RCV005016455 RCV004544303 RCV005600742

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
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001902

rs_587782721

6 SubmittersRCV000132210 RCV000814762 RCV005359294 RCV004772844

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
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Fanconi anemia complementation group D1
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA024540

rs_576279166

12 SubmittersRCV000132216 RCV000203848 RCV000410842 RCV000479638 RCV000353391 RCV001284584 RCV005365039

NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser)

SNV
Germline

Chr17:61857111

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
not specified
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA169463

rs_587782734

10 SubmittersRCV000132232 RCV000213770 RCV000687515 RCV000990039 RCV002267884 RCV004532579

NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)

SNV
Germline

Chr17:58696719

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Carcinoma of colon
Premature ovarian insufficiency
RAD51C-related disorder
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
not specified

Criteria Provided
Conflicting Classifications

CA333284

rs_28363307

20 SubmittersRCV000132278 RCV000204997 RCV000410651 RCV001354887 RCV000766173 RCV004532581 RCV000235203 RCV000765376 RCV002465533

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
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003840

rs_147519994

9 SubmittersRCV000132317 RCV000229852 RCV000780992 RCV003998142 RCV005016457 RCV002286705

NM_032043.3(BRIP1):c.3064G>A (p.Glu1022Lys)

SNV
Germline

Chr17:61683982

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA169715

rs_587782808

5 SubmittersRCV000132368 RCV000461152 RCV001357266 RCV001775628

NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)

SNV
Germline

Chr17:58703325

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Fanconi anemia complementation group O
Malignant tumor of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA169763

rs_587782818

8 SubmittersRCV000132392 RCV000763015 RCV000458376 RCV001358380 RCV004696853 RCV003467194

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
Condition: not provided
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001263

rs_587782843

8 SubmittersRCV000132437 RCV000144221 RCV000816497 RCV001290528 RCV004998287 RCV005365040

NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)

SNV
Germline

Chr17:61847178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
not specified
Fanconi anemia complementation group J
Familial ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Familial cancer of breast
BRIP1-related disorder
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA294540

rs_201047375

23 SubmittersRCV000132540 RCV000168177 RCV000212302 RCV001192824 RCV001196849 RCV005600746 RCV005623307 RCV001358268 RCV003315923 RCV004732700 RCV005251079 RCV005430209

NM_024675.4(PALB2):c.2834+1G>T

SNV
Germline

Chr16:23624008

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Multiple Submitters
No Conflicts

CA294560

rs_587776419

9 SubmittersRCV000133481 RCV000567638 RCV000411304 RCV000763377

NM_024675.4(PALB2):c.48G>A (p.Lys16=)

SNV
Germline

Chr16:23641110

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Multiple Submitters
No Conflicts

CA294568

rs_587776405

8 SubmittersRCV000133492 RCV000566830 RCV001030105 RCV004796039

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
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001564

rs_587776482

9 SubmittersRCV000144203 RCV000471903 RCV000509839 RCV000781014 RCV005359308

NM_000135.4(FANCA):c.3066+1G>T

SNV
Germline

Chr16:89752137

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA270800

rs_587783028

4 SubmittersRCV000144483 RCV003522940

NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala)

SNV
Germline

Chr7:152648872

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Fanconi anemia complementation group U
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA300477

rs_56103026

6 SubmittersRCV000161109 RCV000726016 RCV000988015 RCV001024935

NM_005431.2(XRCC2):c.596T>C (p.Met199Thr)

SNV
Germline

Chr7:152648889

Conflicting classifications of pathogenicity

Fanconi anemia complementation group U
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA300475

rs_149099078

7 SubmittersRCV000765951 RCV000767011 RCV001024734 RCV001818361

NM_000136.3(FANCC):c.1509G>A (p.Thr503=)

SNV
Germline

Chr9:95107090

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA299226

rs_144278080

9 SubmittersRCV000160504 RCV000198398 RCV000571952 RCV001167956 RCV003952799

NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys)

SNV
Germline

Chr9:95111543

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA299184

rs_140687953

11 SubmittersRCV000160486 RCV000477242 RCV000570128 RCV001273988 RCV001358089

NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)

SNV
Germline

Chr9:95135372

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
not specified
Fanconi anemia
Malignant tumor of breast
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA299169

rs_143181565

9 SubmittersRCV000160481 RCV000571755 RCV000709088 RCV001194155 RCV001085038 RCV001355168 RCV003492652

NM_000136.3(FANCC):c.792T>G (p.Ser264Arg)

SNV
Germline

Chr9:95135397

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Malignant tumor of breast
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA299160

rs_730881717

9 SubmittersRCV000206295 RCV000586258 RCV001354181 RCV001549275 RCV002415701 RCV002498797

NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)

SNV
Germline

Chr9:95150055

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia
Fanconi anemia complementation group A
Fanconi anemia complementation group C
not specified

Criteria Provided
Conflicting Classifications

CA299145

rs_370346767

10 SubmittersRCV000160473 RCV000564307 RCV000470152 RCV000988216 RCV002492634 RCV002271426

NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)

SNV
Germline

Chr9:95240675

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA299218

rs_730881731

6 SubmittersRCV000160499 RCV000472455 RCV000781350 RCV004019942

NM_000136.3(FANCC):c.239T>C (p.Ile80Thr)

SNV
Germline

Chr9:95247443

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA299212

rs_4647419

5 SubmittersRCV000160497 RCV001831983 RCV002426792 RCV002484995

NM_000136.3(FANCC):c.127G>A (p.Glu43Lys)

SNV
Germline

Chr9:95249165

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group C
Fanconi anemia complementation group A
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA299206

rs_374836770

9 SubmittersRCV000160495 RCV000709096 RCV000988226 RCV002256090 RCV002372044

NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)

SNV
Germline

Chr16:23603616

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Carcinoma of colon
not specified
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA299753

rs_730881894

12 SubmittersRCV000232726 RCV000589198 RCV000570480 RCV001030415 RCV000855602 RCV002492638

NM_024675.4(PALB2):c.2834+1G>A

SNV
Germline

Chr16:23624008

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA299740

rs_587776419

9 SubmittersRCV000160847 RCV000635960 RCV001016726 RCV001268941 RCV002478488

NM_024675.4(PALB2):c.2699C>T (p.Ala900Val)

SNV
Germline

Chr16:23626285

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA299734

rs_730881890

7 SubmittersRCV000160844 RCV000216145 RCV000555792 RCV002485001 RCV005394561

NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)

SNV
Germline

Chr16:23630026

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA299722

rs_730881887

12 SubmittersRCV000160838 RCV000232377 RCV000569204 RCV000780572 RCV002485000 RCV004535048

NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn)

SNV
Germline

Chr16:23630134

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA299716

rs_730881885

6 SubmittersRCV000160836 RCV000217309 RCV000548729 RCV002505195

NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)

SNV
Germline

Chr16:23630430

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA299691

rs_730881876

11 SubmittersRCV000160827 RCV001238865 RCV003155926 RCV004724950 RCV001781504 RCV000771400

NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)

SNV
Germline

Chr16:23634936

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Fanconi anemia complementation group N
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA299796

rs_142103232

14 SubmittersRCV000160871 RCV000168207 RCV000220923 RCV001030240 RCV001121722 RCV004535051

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
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA185966

rs_75023630

14 SubmittersRCV000160870 RCV000197379 RCV000200991 RCV000368837 RCV001030650 RCV000858743 RCV001356483

NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro)

SNV
Germline

Chr16:23635075

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA299793

rs_577969558

7 SubmittersRCV000160869 RCV000216241 RCV000635626 RCV002485002 RCV004535050

NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala)

SNV
Germline

Chr16:23635390

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA299787

rs_148102335

6 SubmittersRCV000160867 RCV000773131 RCV002492639 RCV000528086

NM_024675.4(PALB2):c.212-2A>G

SNV
Germline

Chr16:23636336

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Fanconi anemia complementation group N
PALB2-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA299700

rs_730881879

13 SubmittersRCV000160830 RCV000206312 RCV000213220 RCV002498799 RCV001781505 RCV004739509 RCV004800300

NM_024675.4(PALB2):c.109-2A>G

SNV
Germline

Chr16:23637954

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA299762

rs_730881897

9 SubmittersRCV000160858 RCV005016482 RCV000572657 RCV000803061

NM_007294.4(BRCA1):c.5186T>A (p.Leu1729Gln)

SNV
Germline

Chr17:43063340

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003330

rs_730881496

9 SubmittersRCV000160000 RCV000165263 RCV000411989 RCV001223270 RCV005365048

NM_007294.4(BRCA1):c.2312T>C (p.Leu771Ser)

SNV
Germline

Chr17:43093219

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
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
not specified
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA001543

rs_730881481

11 SubmittersRCV000163092 RCV000159967 RCV001061346 RCV003998432 RCV005359351 RCV003479028 RCV004758657

NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly)

SNV
Germline

Chr17:43094272

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
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
not specified
BRCA1-related cancer predisposition
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA000831

rs_730881442

12 SubmittersRCV000159846 RCV000409308 RCV000204508 RCV000214615 RCV000515362 RCV000779906 RCV004804679 RCV005359348

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
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
not specified

Criteria Provided
Conflicting Classifications

CA001450

rs_80356967

9 SubmittersRCV000564950 RCV000590511 RCV001072676 RCV001371073 RCV005359350 RCV005016478 RCV005237594

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 SubmittersRCV000233682 RCV000587134 RCV000709500 RCV001189359

NM_058216.3(RAD51C):c.154A>C (p.Ile52Leu)

SNV
Germline

Chr17:58694939

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group O
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

Criteria Provided
Conflicting Classifications

CA299870

rs_730881927

8 SubmittersRCV000160918 RCV000198840 RCV000563190 RCV001195011 RCV003462104 RCV005016483

NM_058216.3(RAD51C):c.164C>T (p.Ala55Val)

SNV
Germline

Chr17:58694949

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA299873

rs_730881928

7 SubmittersRCV000214683 RCV000759333 RCV000648250 RCV002485003

NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly)

SNV
Germline

Chr17:58694985

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA299876

rs_375451955

11 SubmittersRCV000160920 RCV000212936 RCV000227460 RCV001731409 RCV002478491 RCV004567227

NM_058216.3(RAD51C):c.234A>G (p.Thr78=)

SNV
Germline

Chr17:58695019

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
not specified

Criteria Provided
Conflicting Classifications

CA299879

rs_730881929

6 SubmittersRCV000160921 RCV000212937 RCV000477301 RCV000663292 RCV001192878

NM_058216.3(RAD51C):c.395C>G (p.Thr132Arg)

SNV
Germline

Chr17:58695180

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA299882

rs_730881930

8 SubmittersRCV000160922 RCV000206110 RCV000218584 RCV001798558 RCV003467268

NM_058216.3(RAD51C):c.404+2T>C

SNV
Germline

Chr17:58695191

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
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

9 SubmittersRCV000160923 RCV000467500 RCV000221514 RCV000763014 RCV002307418 RCV003467269

NM_058216.3(RAD51C):c.449G>A (p.Gly150Glu)

SNV
Germline

Chr17:58696737

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA299894

rs_730881934

4 SubmittersRCV000160927 RCV002326921 RCV005089800 RCV005246677

NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)

SNV
Germline

Chr17:58709883

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial ovarian cancer
not specified
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA299861

rs_199886026

15 SubmittersRCV000206770 RCV000160915 RCV000587417 RCV005600762 RCV001818359 RCV002478490 RCV003315415 RCV003482134

NM_058216.3(RAD51C):c.746G>A (p.Arg249His)

SNV
Germline

Chr17:58709899

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA299864

rs_730881925

11 SubmittersRCV000160916 RCV000168412 RCV000234871 RCV000781789 RCV000663073 RCV001257495

NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp)

SNV
Germline

Chr17:58724069

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA299887

rs_730881932

10 SubmittersRCV000160924 RCV000563267 RCV000781796 RCV000807077 RCV001310207 RCV005025250

NM_058216.3(RAD51C):c.965+1G>A

SNV
Germline

Chr17:58724101

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA299893

rs_730881933

7 SubmittersRCV000160926 RCV000698614 RCV001183046 RCV003467270 RCV005600763

NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)

SNV
Germline

Chr17:61683487

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
BRIP1-related disorder
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA298847

rs_367610893

12 SubmittersRCV000160327 RCV000226626 RCV000989974 RCV000573454 RCV001192971 RCV003492648 RCV004544466 RCV005430213

NM_032043.3(BRIP1):c.2935A>G (p.Lys979Glu)

SNV
Germline

Chr17:61684111

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298844

rs_730881627

8 SubmittersRCV000160326 RCV000205057 RCV000212331 RCV002254684 RCV004567202

NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)

SNV
Germline

Chr17:61716053

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Fanconi anemia complementation group J
not specified
Familial cancer of breast
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA298825

rs_730881622

11 SubmittersRCV000160319 RCV000477092 RCV000212323 RCV001194708 RCV000781178 RCV003315951 RCV005430211

NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val)

SNV
Germline

Chr17:61780950

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Familial ovarian cancer
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA298890

rs_45533636

9 SubmittersRCV000160342 RCV000212314 RCV000456914 RCV003315954 RCV004689633 RCV005600754 RCV005430215

NM_032043.3(BRIP1):c.1356C>T (p.Asn452=)

SNV
Germline

Chr17:61793714

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
not specified
BRIP1-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298911

rs_730881640

8 SubmittersRCV000213455 RCV000205394 RCV000160351 RCV004544467 RCV004791283

NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)

SNV
Germline

Chr17:61799183

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA298908

rs_148429663

8 SubmittersRCV000160350 RCV000570359 RCV000534624 RCV004786436 RCV005365049

NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter)

SNV
Germline

Chr17:61799284

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298875

rs_730881635

4 SubmittersRCV000505742 RCV001390434 RCV002354404 RCV003335147

NM_032043.3(BRIP1):c.1077A>G (p.Ile359Met)

SNV
Germline

Chr17:61801316

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298872

rs_730881634

5 SubmittersRCV000160336 RCV000565573 RCV001300398 RCV004567203

NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)

SNV
Germline

Chr17:61801327

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA298869

rs_730881633

11 SubmittersRCV000160335 RCV001030543 RCV000212307 RCV000636104 RCV003335146 RCV005600753 RCV003162675

NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser)

SNV
Germline

Chr17:61849242

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
not specified
Familial cancer of breast
Ovarian cancer
Fanconi anemia complementation group J
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA298828

rs_730881623

10 SubmittersRCV000160320 RCV000167936 RCV000212300 RCV002298487 RCV003315952 RCV005430212 RCV005359357

NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)

SNV
Germline

Chr17:61857067

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Fanconi anemia complementation group J
BRIP1-related disorder
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA298931

rs_45617634

9 SubmittersRCV000160363 RCV000205266 RCV000212299 RCV000409265 RCV004732719 RCV003315958 RCV005430225

NM_032043.3(BRIP1):c.93+15G>A

SNV
Germline

Chr17:61861432

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA298901

rs_113052745

6 SubmittersRCV000160347 RCV000395959 RCV000580716 RCV002053921 RCV005430218 RCV002225462

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
Fanconi anemia complementation group D1
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA017418

rs_786201916

5 SubmittersRCV000164444 RCV000637554 RCV001729420 RCV003441762 RCV005055656

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
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA018181

rs_762886975

7 SubmittersRCV000166339 RCV000309640 RCV000366646 RCV001094081 RCV001356826 RCV004692777

NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly)

SNV
Germline

Chr16:23607970

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196312

rs_786203345

8 SubmittersRCV000166614 RCV000232382 RCV002505212 RCV004998351

NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)

SNV
Germline

Chr16:23629798

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
not specified
Condition: not provided
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA197222

rs_786203608

10 SubmittersRCV000166996 RCV000226421 RCV002505215 RCV003321534 RCV001566992 RCV003129793

NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)

SNV
Germline

Chr16:23629810

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
not specified
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA196135

rs_786203296

11 SubmittersRCV000166543 RCV000470017 RCV000478256 RCV001355915 RCV003479039 RCV002492670

NM_024675.4(PALB2):c.2277A>G (p.Gln759=)

SNV
Germline

Chr16:23629877

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Fanconi anemia complementation group N
Breast and/or ovarian cancer
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA193209

rs_786202524

11 SubmittersRCV000165372 RCV000472744 RCV000614133 RCV001119745 RCV003150021 RCV004535111

NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)

SNV
Germline

Chr16:23629926

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial pancreatic carcinoma
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA189784

rs_141749524

13 SubmittersRCV000164010 RCV000781684 RCV001030648 RCV003150010 RCV005359455 RCV000197626 RCV000255110 RCV000296163

NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro)

SNV
Germline

Chr16:23630020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA194955

rs_765942523

5 SubmittersRCV000166087 RCV000459199 RCV002485027

NM_024675.4(PALB2):c.2100A>T (p.Ser700=)

SNV
Germline

Chr16:23630054

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
not specified
Condition: not provided
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA190176

rs_757145884

10 SubmittersRCV000164155 RCV000347505 RCV000200038 RCV000611803 RCV001358505 RCV004539543

NM_024675.4(PALB2):c.2067G>A (p.Ser689=)

SNV
Germline

Chr16:23630087

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Fanconi anemia complementation group N
Condition: not provided
Carcinoma of colon
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA193263

rs_371149159

16 SubmittersRCV000165391 RCV000197495 RCV000420216 RCV001119747 RCV001284030 RCV001356268 RCV004535112

NM_024675.4(PALB2):c.1748T>C (p.Leu583Ser)

SNV
Germline

Chr16:23630406

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA195224

rs_587782151

7 SubmittersRCV000166198 RCV000464125 RCV000996241 RCV005230014 RCV005016500

NM_024675.4(PALB2):c.1599T>C (p.Thr533=)

SNV
Germline

Chr16:23634947

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
not specified
PALB2-related disorder
Condition: not provided
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA186523

rs_786201088

10 SubmittersRCV000162589 RCV000232866 RCV001121723 RCV001818362 RCV004544477 RCV001704155 RCV005359395

NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp)

SNV
Germline

Chr16:23635020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA195692

rs_786203176

5 SubmittersRCV000166375 RCV000458684 RCV000765273 RCV002228767

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
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA196834

rs_749494645

16 SubmittersRCV000166836 RCV000289282 RCV000483813 RCV001030716 RCV000989572 RCV005396492 RCV004739541 RCV000780567

NM_024675.4(PALB2):c.1252A>G (p.Asn418Asp)

SNV
Germline

Chr16:23635294

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA194782

rs_786202943

7 SubmittersRCV000166018 RCV000228629 RCV001775647 RCV005016498

NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly)

SNV
Germline

Chr16:23635453

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA191954

rs_773001248

8 SubmittersRCV000164864 RCV000486708 RCV000205169 RCV002485020

NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)

SNV
Germline

Chr16:23635717

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Carcinoma of colon
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA195935

rs_778309339

9 SubmittersRCV000166462 RCV000235601 RCV000477600 RCV001030179 RCV001336120

NM_024675.4(PALB2):c.788A>G (p.Glu263Gly)

SNV
Germline

Chr16:23635758

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA192260

rs_745553724

8 SubmittersRCV000164996 RCV000485489 RCV000233981 RCV005016493

NM_024675.4(PALB2):c.739A>G (p.Thr247Ala)

SNV
Germline

Chr16:23635807

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA195172

rs_786203040

6 SubmittersRCV000166174 RCV000459460 RCV002485029

NM_024675.4(PALB2):c.637G>C (p.Val213Leu)

SNV
Germline

Chr16:23635909

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA198128

rs_786203875

5 SubmittersRCV000167372 RCV000635925 RCV001193467 RCV002485041

NM_024675.4(PALB2):c.495C>T (p.Gly165=)

SNV
Germline

Chr16:23636051

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Bile duct cancer

Criteria Provided
Conflicting Classifications

CA193911

rs_200937538

15 SubmittersRCV000444952 RCV000532734 RCV000679773 RCV000165654 RCV001119841 RCV001357741

NM_024675.4(PALB2):c.101G>T (p.Arg34Leu)

SNV
Germline

Chr16:23638077

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA196241

rs_144944814

9 SubmittersRCV000166587 RCV000456690 RCV000520497 RCV002498826

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
Fanconi anemia, complementation group S
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA003041

rs_786202064

9 SubmittersRCV000164690 RCV000241386 RCV000496345 RCV005359486 RCV005431511

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
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA002892

rs_786202631

8 SubmittersRCV000165536 RCV000241110 RCV000508652 RCV000793994 RCV003398845

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
Breast and/or ovarian cancer
not specified
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
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002409

rs_397509100

13 SubmittersRCV000165814 RCV000203862 RCV000411367 RCV000759525 RCV001170594 RCV001193747 RCV001354503 RCV002485026 RCV004804753

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
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA002194

rs_530464947

10 SubmittersRCV000162693 RCV000231870 RCV001174651 RCV001283894 RCV003995212 RCV005016485

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
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA002022

rs_80357459

10 SubmittersRCV000165320 RCV000200747 RCV003333739 RCV001290537 RCV003321532 RCV005016495

NM_007294.4(BRCA1):c.2218G>T (p.Val740Leu)

SNV
Germline

Chr17:43093313

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001489

rs_80357415

7 SubmittersRCV000164916 RCV000662700 RCV001328454 RCV000539119 RCV005016492

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
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001143

rs_786202386

11 SubmittersRCV000165167 RCV000227464 RCV000764124 RCV001128034 RCV001555644 RCV004767104 RCV004804743

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
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA000840

rs_775869160

7 SubmittersRCV000167163 RCV000637559 RCV001800506 RCV005361032 RCV003995567

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
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003812

rs_191872612

6 SubmittersRCV000166112 RCV000503325 RCV001042814 RCV005359519

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
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
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001390

rs_144792613

11 SubmittersRCV000164210 RCV000543291 RCV000588310 RCV000764129 RCV001072325 RCV005237612 RCV005016488

NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg)

SNV
Germline

Chr17:58692650

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Familial ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA188884

rs_376403182

10 SubmittersRCV000163662 RCV000228544 RCV000479892 RCV001195006 RCV005425760 RCV005600768 RCV005365073

NM_058216.3(RAD51C):c.59C>G (p.Ser20Cys)

SNV
Germline

Chr17:58692702

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA198382

rs_786203944

2 SubmittersRCV000167462 RCV000704412

NM_058216.3(RAD51C):c.87T>C (p.Ser29=)

SNV
Germline

Chr17:58692730

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
not specified
RAD51C-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA195977

rs_786203249

10 SubmittersRCV000166476 RCV000333563 RCV000199492 RCV000431471 RCV004539559 RCV001704218

NM_058216.3(RAD51C):c.252G>T (p.Lys84Asn)

SNV
Germline

Chr17:58695037

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Familial ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 3
not specified
Condition: not provided
RAD51C-related disorder

Criteria Provided
Conflicting Classifications

CA194603

rs_786202890

10 SubmittersRCV000165944 RCV000195928 RCV005600786 RCV001535599 RCV000781943 RCV001576516 RCV004535123

NM_058216.3(RAD51C):c.340G>A (p.Gly114Arg)

SNV
Germline

Chr17:58695125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
RAD51C-related disorder
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA197508

rs_786203690

7 SubmittersRCV000167106 RCV000586168 RCV000793970 RCV004734763 RCV005246748

NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)

SNV
Germline

Chr17:58696746

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA191975

rs_765730332

11 SubmittersRCV000164871 RCV000226827 RCV003150961 RCV000587056 RCV001262192

NM_058216.3(RAD51C):c.621T>A (p.His207Gln)

SNV
Germline

Chr17:58703245

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA190705

rs_786201848

10 SubmittersRCV000164342 RCV000227022 RCV000986011 RCV002465547 RCV003316020 RCV005016489

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
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Breast and/or ovarian cancer
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA190934

rs_786201909

9 SubmittersRCV000164432 RCV000529934 RCV001194263 RCV003467296 RCV001798584 RCV000657719

NM_058216.3(RAD51C):c.635G>A (p.Arg212His)

SNV
Germline

Chr17:58703259

Conflicting classifications of pathogenicity

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-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
not specified
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA198151

rs_200857129

15 SubmittersRCV000167379 RCV000412279 RCV000409423 RCV000588404 RCV001030587 RCV002505216 RCV002295286 RCV003153459

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-ovarian cancer, familial, susceptibility to, 3
Breast carcinoma
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA194618

rs_770637624

18 SubmittersRCV000165947 RCV000233212 RCV000484844 RCV000576766 RCV000709509 RCV001356354 RCV001554261 RCV003162706

NM_058216.3(RAD51C):c.744T>C (p.Phe248=)

SNV
Germline

Chr17:58709897

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
not specified
Condition: not provided
RAD51C-related disorder
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA191729

rs_150142859

10 SubmittersRCV000164771 RCV000198935 RCV000442055 RCV001800488 RCV004535104 RCV005396477 RCV005420647

NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln)

SNV
Germline

Chr17:58709932

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA195578

rs_730881926

11 SubmittersRCV000166327 RCV000529829 RCV001576576 RCV000780668 RCV005025265 RCV002265646

NM_058216.3(RAD51C):c.870T>A (p.Ile290=)

SNV
Germline

Chr17:58720778

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Fanconi anemia complementation group O
Condition: not provided
not specified
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 3
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA189363

rs_376402418

13 SubmittersRCV000163858 RCV000709515 RCV001356136 RCV000204484 RCV001640217 RCV001818371 RCV001798579 RCV005420620 RCV005600769

NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)

SNV
Germline

Chr17:58720798

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
RAD51C-related disorder
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA195984

rs_143026267

14 SubmittersRCV000166479 RCV000410543 RCV000409000 RCV004528916 RCV001818392 RCV000657146 RCV005016504

NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)

SNV
Germline

Chr17:58724057

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
RAD51C-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA195122

rs_185057307

13 SubmittersRCV000166154 RCV000227701 RCV000662381 RCV002291582 RCV004535124 RCV000236041 RCV001844059

NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln)

SNV
Germline

Chr17:58734200

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 3
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196632

rs_373170458

12 SubmittersRCV000166749 RCV000168186 RCV000662686 RCV003150028 RCV003153453 RCV001192875 RCV001284225

NM_058216.3(RAD51C):c.1128A>G (p.Leu376=)

SNV
Germline

Chr17:58734219

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA196668

rs_545024029

9 SubmittersRCV000166761 RCV000546857 RCV004584620 RCV000423579 RCV005425774

NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly)

SNV
Germline

Chr17:61683441

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA194566

rs_776010326

6 SubmittersRCV000165933 RCV000214877 RCV000233466 RCV003230428 RCV004535122

NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)

SNV
Germline

Chr17:61683475

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
Familial ovarian cancer
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA196415

rs_761405340

12 SubmittersRCV000198324 RCV000166662 RCV000781167 RCV000219026 RCV003316056 RCV001798598 RCV005600792 RCV005430253

NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)

SNV
Germline

Chr17:61683479

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Condition: not provided
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA191229

rs_764848326

9 SubmittersRCV000164542 RCV000472623 RCV000989973 RCV001124767 RCV000432753 RCV001704197 RCV004535101

NM_032043.3(BRIP1):c.3260A>G (p.Asn1087Ser)

SNV
Germline

Chr17:61683786

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA191419

rs_786202024

5 SubmittersRCV000164623 RCV000551876 RCV003237749

NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)

SNV
Germline

Chr17:61683814

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA194731

rs_786202927

2 SubmittersRCV000165998 RCV001850330

NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg)

SNV
Germline

Chr17:61683950

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
not specified
BRIP1-related disorder
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA190983

rs_763162379

8 SubmittersRCV000164450 RCV000412033 RCV000520126 RCV000636160 RCV003316022 RCV002247565 RCV004528910 RCV005430236

NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)

SNV
Germline

Chr17:61683996

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA194343

rs_747907706

11 SubmittersRCV000165849 RCV000586787 RCV000231204 RCV001262876 RCV001549276 RCV005430246

NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)

SNV
Germline

Chr17:61684132

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Ovarian cancer
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA195885

rs_786203224

7 SubmittersRCV000166442 RCV000472014 RCV000989986 RCV005430252 RCV002259316

NM_032043.3(BRIP1):c.2893A>C (p.Arg965=)

SNV
Germline

Chr17:61685848

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA186604

rs_113697814

6 SubmittersRCV000162637 RCV000300079 RCV001078734 RCV001358720 RCV004791286

NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr)

SNV
Germline

Chr17:61685856

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Ovarian cancer
Fanconi anemia complementation group J
not specified
Familial cancer of breast
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA189776

rs_786201632

8 SubmittersRCV000164008 RCV000197368 RCV005235065 RCV005430233 RCV001797647 RCV003316014 RCV004732724

NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)

SNV
Germline

Chr17:61685930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Fanconi anemia complementation group J
BRIP1-related disorder
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA187400

rs_374335608

13 SubmittersRCV000163081 RCV000233012 RCV000440198 RCV000374312 RCV004535063 RCV004791288 RCV003492667

NM_032043.3(BRIP1):c.2723C>T (p.Thr908Ile)

SNV
Germline

Chr17:61686018

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA190975

rs_786201919

5 SubmittersRCV000164448 RCV000699974 RCV000586440

NM_032043.3(BRIP1):c.2258-3A>G

SNV
Germline

Chr17:61743137

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA197042

rs_786203561

5 SubmittersRCV000166925 RCV000472114 RCV000506334 RCV003474883

NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)

SNV
Germline

Chr17:61744589

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Condition: not provided
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA190604

rs_766047812

8 SubmittersRCV000164312 RCV000470869 RCV000990002 RCV001618320 RCV004535096

NM_032043.3(BRIP1):c.2097+1G>C

SNV
Germline

Chr17:61776400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA194780

rs_786202941

8 SubmittersRCV000166016 RCV000690601 RCV002267914 RCV003474871

NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu)

SNV
Germline

Chr17:61780299

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA191781

rs_765314472

6 SubmittersRCV000164796 RCV000217145 RCV000457977 RCV000999642 RCV003493473

NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)

SNV
Germline

Chr17:61780365

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA194306

rs_777741543

8 SubmittersRCV000165836 RCV000480949 RCV000233742 RCV003230262 RCV005430245

NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)

SNV
Germline

Chr17:61784346

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA190066

rs_786201701

6 SubmittersRCV000164112 RCV000439785 RCV001356649 RCV000475560

NM_032043.3(BRIP1):c.1474-3T>C

SNV
Germline

Chr17:61784427

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fanconi anemia complementation group J
Ovarian cancer
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA192215

rs_552752779

14 SubmittersRCV000164980 RCV000430204 RCV000589721 RCV000348888 RCV005430240 RCV003316033 RCV001085989 RCV004535106

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
Hereditary breast ovarian cancer syndrome
BRIP1-related disorder
Ovarian cancer
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA193144

rs_752309409

17 SubmittersRCV000165345 RCV000219928 RCV000206065 RCV002225482 RCV004732727 RCV005430242 RCV001781512 RCV003316042 RCV005359503

NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)

SNV
Germline

Chr17:61808696

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA195418

rs_759031349

16 SubmittersRCV000166271 RCV000386668 RCV000411446 RCV000515765 RCV001328338 RCV001086889 RCV005430249

NM_032043.3(BRIP1):c.668A>G (p.Gln223Arg)

SNV
Germline

Chr17:61808717

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA197560

rs_786203708

4 SubmittersRCV000167128 RCV001284464 RCV001241245

NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter)

SNV
Germline

Chr17:61808718

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA190233

rs_786201733

3 SubmittersRCV000164174 RCV003765019 RCV003335154

NM_032043.3(BRIP1):c.638A>G (p.His213Arg)

SNV
Germline

Chr17:61808747

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
not specified
BRIP1-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA195347

rs_376760085

7 SubmittersRCV000166239 RCV000205783 RCV000217577 RCV001194200 RCV004724959 RCV003462205

NM_032043.3(BRIP1):c.550G>A (p.Asp184Asn)

SNV
Germline

Chr17:61847178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA195893

rs_201047375

2 SubmittersRCV000166445 RCV000461927

NM_032043.3(BRIP1):c.537A>G (p.Glu179=)

SNV
Germline

Chr17:61847191

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA192432

rs_775509896

6 SubmittersRCV000165068 RCV000196641 RCV000524004 RCV004791295

NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)

SNV
Germline

Chr17:61849152

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Gastric cancer
BRIP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA194744

rs_747604569

12 SubmittersRCV000166003 RCV000484711 RCV000198978 RCV000588178 RCV003335159 RCV001781513 RCV003162707 RCV004539556

NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro)

SNV
Germline

Chr17:61857067

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA192862

rs_45617634

4 SubmittersRCV000165248 RCV000460048 RCV002307422

NM_032043.3(BRIP1):c.249A>G (p.Gln83=)

SNV
Germline

Chr17:61857188

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
BRIP1-related disorder
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA188832

rs_45528833

11 SubmittersRCV000163644 RCV000178374 RCV004539533 RCV004786449 RCV001084487

NM_032043.3(BRIP1):c.206-2A>G

SNV
Germline

Chr17:61857233

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Ovarian neoplasm
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA197546

rs_786203700

10 SubmittersRCV000167120 RCV000526148 RCV001310101 RCV001781516 RCV000214974 RCV003462235 RCV005430255 RCV004732730

NM_032043.3(BRIP1):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:61861539

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Genetic non-acquired premature ovarian failure
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA197496

rs_764585550

8 SubmittersRCV000167101 RCV000484413 RCV000474167 RCV000410570 RCV002283462 RCV003153455

NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter)

SNV
Germline

Chr9:35074384

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Single Submitter

CA334565

rs_786204205

2 SubmittersRCV000168294 RCV001194974

NM_000136.3(FANCC):c.626G>A (p.Arg209His)

SNV
Germline

Chr9:95149983

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA334694

rs_587778327

6 SubmittersRCV000168381 RCV000482249 RCV001025063 RCV003144145

NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)

SNV
Germline

Chr16:23621369

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Carcinoma of colon
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA334122

rs_756906403

12 SubmittersRCV000168000 RCV000479177 RCV000216674 RCV001731498 RCV001030381 RCV002485044

NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)

SNV
Germline

Chr16:23635230

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA334035

rs_537258442

13 SubmittersRCV000167944 RCV000588409 RCV000565232 RCV000765276 RCV001818401

NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr)

SNV
Germline

Chr16:23635431

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA334752

rs_786204243

4 SubmittersRCV000168425 RCV000765277 RCV000774638

NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro)

SNV
Germline

Chr16:3590271

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA334512

rs_201582780

3 SubmittersRCV000168266 RCV001121728

NM_000135.4(FANCA):c.283+3A>C

SNV
Germline

Chr16:89814517

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA334564

rs_786204204

2 SubmittersRCV000168293 RCV001256326

NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)

SNV
Germline

Chr17:58696780

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA334598

rs_573992101

14 SubmittersRCV000168314 RCV000656962 RCV000408982 RCV000446053 RCV003155099 RCV002485046

NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter)

SNV
Germline

Chr17:61715996

Pathogenic

Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA334772

rs_786204250

2 SubmittersRCV000168450 RCV001382996

NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)

SNV
Germline

Chr17:61847111

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA334612

rs_565458815

11 SubmittersRCV000168335 RCV000506651 RCV000222015 RCV003316070 RCV001546767 RCV005430257

NM_000136.3(FANCC):c.844-1G>C

SNV
Germline

Chr9:95126582

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
FANCC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274324

rs_774209201

11 SubmittersRCV000169449 RCV000224795 RCV000462508 RCV001017779 RCV003398868

NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)

SNV
Germline

Chr9:95171080

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA274274

rs_781542763

8 SubmittersRCV000169411 RCV001213440 RCV003441768 RCV002345568

NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)

SNV
Germline

Chr9:95249227

Pathogenic

Fanconi anemia complementation group C
FANCC-related disorder
Fanconi anemia
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274137

rs_377294947

10 SubmittersRCV000169293 RCV003407628 RCV001390247 RCV002362865 RCV004719732

NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)

SNV
Germline

Chr16:89767185

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA274891

rs_752160950

7 SubmittersRCV000173013 RCV000630944

NM_007294.4(BRCA1):c.2980T>C (p.Cys994Arg)

SNV
Germline

Chr17:43092551

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001938

rs_144853230

7 SubmittersRCV000173832 RCV001017761 RCV000556672 RCV001328426 RCV005361065 RCV005620912

NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)

SNV
Germline

ChrX:14859297

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
not specified
FANCB-related disorder

Criteria Provided
Conflicting Classifications

CA245168

rs_200161949

10 SubmittersRCV000178139 RCV001085637 RCV001818433 RCV003967429

NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu)

SNV
Germline

ChrX:14857919

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia complementation group B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA245990

rs_199909156

7 SubmittersRCV000178817 RCV000865306 RCV001167815 RCV001167816 RCV002453636 RCV003436973

NM_001018113.3(FANCB):c.1371C>T (p.Val457=)

SNV
Germline

ChrX:14850630

Conflicting classifications of pathogenicity

Fanconi anemia complementation group B
VACTERL association, X-linked, with or without hydrocephalus
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA247093

rs_149695930

5 SubmittersRCV000287960 RCV000352217 RCV000487772 RCV001083348

NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu)

SNV
Germline

Chr1:202335751

Pathogenic

Fanconi anemia complementation group T

Criteria Provided
Single Submitter

CA214607

rs_774357609

3 SubmittersRCV000180789

NM_014176.4(UBE2T):c.179+5G>A

SNV
Germline

Chr1:202334984

Pathogenic

Fanconi anemia complementation group T

No Assertion Criteria Provided

CA203829

rs_796052212

2 SubmittersRCV000180790

NM_000135.4(FANCA):c.2762A>T (p.Lys921Ile)

SNV
Germline

Chr16:89764906

Likely pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA10575737

rs_879255255

1 SubmittersRCV000239379

NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)

SNV
Germline

Chr15:89293963

Pathogenic/Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA276032

rs_375656231

4 SubmittersRCV000190643 RCV000630839

NM_021922.3(FANCE):c.1510-11C>T

SNV
Germline

Chr6:35466233

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group E
Condition: not provided

Criteria Provided
Conflicting Classifications

CA207059

rs_189384185

6 SubmittersRCV000193517 RCV000402087 RCV001565912

NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)

SNV
Germline

Chr15:89294945

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group I
Hereditary cancer-predisposing syndrome
Condition: not provided
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA207035

rs_145762491

12 SubmittersRCV000193501 RCV000231441 RCV001121009 RCV005251089 RCV001532265 RCV003977514

NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys)

SNV
Germline

Chr9:95101789

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
Ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA339012

rs_55939573

7 SubmittersRCV000199976 RCV000520121 RCV001012322 RCV001167954 RCV003153471 RCV005237705

NM_000136.3(FANCC):c.1048A>G (p.Met350Val)

SNV
Germline

Chr9:95117339

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA335659

rs_863224607

9 SubmittersRCV000195408 RCV001017074 RCV001292900 RCV001546836 RCV002282033

NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp)

SNV
Germline

Chr9:95117387

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
not specified

Criteria Provided
Conflicting Classifications

CA336089

rs_140348260

5 SubmittersRCV000195976 RCV000486496 RCV001009657 RCV001354801 RCV001818484

NM_000136.3(FANCC):c.896+2T>G

SNV
Germline

Chr9:95126527

Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA336638

rs_863224441

2 SubmittersRCV000196695 RCV000487051

NM_000136.3(FANCC):c.843+5G>A

SNV
Germline

Chr9:95135341

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
not specified
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA339272

rs_369082921

9 SubmittersRCV000200370 RCV000486099 RCV001017767 RCV000666113 RCV002509295 RCV004748654

NM_000136.3(FANCC):c.668T>C (p.Val223Ala)

SNV
Germline

Chr9:95149941

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336594

rs_751410815

8 SubmittersRCV000196637 RCV000709089 RCV001025536 RCV001818486 RCV002478703

NM_000136.3(FANCC):c.28T>G (p.Cys10Gly)

SNV
Germline

Chr9:95249264

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
not specified
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA339141

rs_147479204

10 SubmittersRCV000200177 RCV000218236 RCV001818485 RCV000709098 RCV001016913

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 SubmittersRCV000198889 RCV000571680 RCV001334182 RCV003996988

NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val)

SNV
Germline

Chr16:23603482

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA335883

rs_863224788

10 SubmittersRCV000195715 RCV000216876 RCV000478251 RCV001251265 RCV002492923 RCV005396619

NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)

SNV
Germline

Chr16:23635209

Conflicting classifications of pathogenicity

Familial cancer of breast
Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA339587

rs_146434474

12 SubmittersRCV000200861 RCV000761148 RCV000255070 RCV000562823 RCV001194137 RCV002492922 RCV004530198 RCV005600809

NM_032444.4(SLX4):c.3774C>T (p.Pro1258=)

SNV
Germline

Chr16:3589864

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336391

rs_146054214

6 SubmittersRCV000196404 RCV001119749 RCV001818480 RCV003884399

NM_032444.4(SLX4):c.339T>C (p.Ser113=)

SNV
Germline

Chr16:3608626

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group P
not specified

Criteria Provided
Conflicting Classifications

CA338775

rs_144326379

7 SubmittersRCV000199665 RCV001579421 RCV001115435 RCV001818479

NM_000135.4(FANCA):c.3981C>T (p.His1327=)

SNV
Germline

Chr16:89739507

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337861

rs_141278771

8 SubmittersRCV000198364 RCV001818475 RCV001118445 RCV004975328 RCV003430755

NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu)

SNV
Germline

Chr16:89742862

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA338301

rs_769919783

2 SubmittersRCV000198937 RCV000765322

NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)

SNV
Germline

Chr16:89765062

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA338977

rs_780825099

10 SubmittersRCV000199923 RCV001091062 RCV000674142 RCV002252053

NM_007294.4(BRCA1):c.4485-10A>G

SNV
Germline

Chr17:43074531

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
BRCA1-related disorder
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA337423

rs_863224420

12 SubmittersRCV000197772 RCV000579627 RCV000599872 RCV000758831 RCV000989881 RCV001090204 RCV004554747 RCV005361137

NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys)

SNV
Germline

Chr17:58692749

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA339592

rs_773998134

8 SubmittersRCV000200867 RCV000484571 RCV000569780 RCV001798673 RCV003462343

NM_058216.3(RAD51C):c.571+5G>A

SNV
Germline

Chr17:58696864

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA335708

rs_145779113

10 SubmittersRCV000195473 RCV000561973 RCV005246780 RCV004796095 RCV004998416

NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)

SNV
Germline

Chr17:58703329

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA338966

rs_755849719

10 SubmittersRCV000199916 RCV000220144 RCV001358631 RCV000679802 RCV000765377 RCV001798674 RCV004020476

NM_058216.3(RAD51C):c.718A>T (p.Ile240Leu)

SNV
Germline

Chr17:58709871

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast and/or ovarian cancer
RAD51C-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336352

rs_863224806

11 SubmittersRCV000196347 RCV000562301 RCV001249298 RCV001818494 RCV002503788 RCV003491949 RCV004530200 RCV004719745

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
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA338869

rs_779582317

10 SubmittersRCV000199789 RCV000570941 RCV001194258 RCV003441777 RCV003468897 RCV003165464

NM_032043.3(BRIP1):c.3080A>C (p.Glu1027Ala)

SNV
Germline

Chr17:61683966

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA335902

rs_863224804

2 SubmittersRCV001297341 RCV005305982

NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)

SNV
Germline

Chr17:61685941

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA339524

rs_863224801

9 SubmittersRCV000200748 RCV000408962 RCV000567218 RCV003316114 RCV004812306 RCV005430264 RCV005406940

NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter)

SNV
Germline

Chr17:61793687

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA336051

rs_587780875

3 SubmittersRCV000195948 RCV000657659 RCV002381683

NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)

SNV
Germline

Chr17:61793727

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group J
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA338228

rs_775171520

9 SubmittersRCV000198848 RCV000449028 RCV000586228 RCV003335194 RCV003477666 RCV005222825 RCV005600807

NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu)

SNV
Germline

Chr17:61808706

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA336231

rs_45459799

13 SubmittersRCV000196200 RCV000410552 RCV000564063 RCV002267935 RCV001546249 RCV001762423 RCV005430265

NM_032043.3(BRIP1):c.205+3A>G

SNV
Germline

Chr17:61859793

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA336991

rs_539329589

3 SubmittersRCV000583027 RCV001426470

NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)

SNV
Germline

Chr16:23621402

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
not specified
Breast and/or ovarian cancer
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA277851

rs_746872839

12 SubmittersRCV000202108 RCV000213208 RCV000479987 RCV001116750 RCV001174762 RCV003491950 RCV005396622

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

14 SubmittersRCV000202851 RCV000368728 RCV000860369 RCV000987102 RCV001434411 RCV002225505

NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)

SNV
Germline

Chr9:95111630

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group C
Fanconi anemia
Hereditary cancer-predisposing syndrome
FANCC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA248867

rs_371897078

9 SubmittersRCV000202668 RCV000409441 RCV000526773 RCV001010060 RCV003955217

NM_005236.3(ERCC4):c.974-6T>C

SNV
Germline

Chr16:13932151

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
not specified
Fanconi anemia complementation group Q
Cockayne syndrome
Xeroderma pigmentosum, group F
Condition: not provided
Xeroderma pigmentosum
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA249006

rs_201181735

10 SubmittersRCV000353369 RCV000202807 RCV000964431 RCV003417735 RCV002257501 RCV005251092

NM_018062.4(FANCL):c.112C>T (p.Leu38Phe)

SNV
Germline

Chr2:58232097

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
not specified
Fanconi anemia complementation group L
FANCL-related disorder

Criteria Provided
Conflicting Classifications

CA350328

rs_55849827

11 SubmittersRCV001082870 RCV000515051 RCV000420428 RCV001137465 RCV003937791

NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)

SNV
Germline

Chr9:35077026

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group G
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349730

rs_201438531

6 SubmittersRCV000205598 RCV000502118 RCV001449943 RCV002515531 RCV003237771

NM_000136.3(FANCC):c.1594A>C (p.Arg532=)

SNV
Germline

Chr9:95101790

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348732

rs_764649916

3 SubmittersRCV000204505 RCV003236789 RCV002399766

NM_000136.3(FANCC):c.1494T>C (p.Ala498=)

SNV
Germline

Chr9:95107105

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
not specified
Condition: not provided
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA349507

rs_76895298

10 SubmittersRCV000205349 RCV000568553 RCV001167957 RCV001260352 RCV001657994 RCV003967551

NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)

SNV
Germline

Chr9:95111502

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349399

rs_766105286

3 SubmittersRCV000205214 RCV000409033 RCV004767149

NM_000136.3(FANCC):c.1162G>A (p.Gly388Arg)

SNV
Germline

Chr9:95111630

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA349330

rs_371897078

6 SubmittersRCV000205129 RCV000484234 RCV001010059

NM_000136.3(FANCC):c.1081C>T (p.Arg361Trp)

SNV
Germline

Chr9:95114702

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350435

rs_768508859

4 SubmittersRCV000206395 RCV000479585 RCV002426960

NM_000136.3(FANCC):c.679A>G (p.Ile227Val)

SNV
Germline

Chr9:95149930

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348958

rs_864622550

5 SubmittersRCV000204753 RCV000482871 RCV001025655

NM_000136.3(FANCC):c.609C>T (p.Leu203=)

SNV
Germline

Chr9:95150000

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group C
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA349426

rs_567226063

10 SubmittersRCV000205246 RCV000443939 RCV001165847 RCV001354745 RCV001024894

NM_000136.3(FANCC):c.438T>C (p.Tyr146=)

SNV
Germline

Chr9:95172055

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349588

rs_765990832

7 SubmittersRCV000205428 RCV000570699 RCV001167423 RCV001818501 RCV001705175

NM_001113378.2(FANCI):c.3924+1G>A

SNV
Germline

Chr15:89315390

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA350361

rs_864622739

1 SubmittersRCV000206316

NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala)

SNV
Germline

Chr16:23607883

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA350039

rs_864622193

10 SubmittersRCV000222857 RCV000205952 RCV001800527 RCV000587389 RCV002478727 RCV004764779

NM_024675.4(PALB2):c.1647C>A (p.His549Gln)

SNV
Germline

Chr16:23634899

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA348236

rs_747842085

11 SubmittersRCV000203956 RCV000219639 RCV000479905 RCV000766620 RCV001798683 RCV005396646

NM_024675.4(PALB2):c.398G>T (p.Ser133Ile)

SNV
Germline

Chr16:23636148

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA348953

rs_864622411

5 SubmittersRCV000204748 RCV000575642 RCV005016566 RCV005361185

NM_024675.4(PALB2):c.226A>G (p.Ile76Val)

SNV
Germline

Chr16:23636320

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA348162

rs_541028076

8 SubmittersRCV000203860 RCV000223229 RCV000590079 RCV001030134 RCV005016565 RCV001526861

NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)

SNV
Germline

Chr16:89746890

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA350699

rs_149277003

10 SubmittersRCV000206698 RCV000254722 RCV000665865

NM_007294.4(BRCA1):c.*58C>T

SNV
Germline

Chr17:43045620

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA056475

rs_137892861

6 SubmittersRCV000204618 RCV000989862 RCV002508198 RCV005361198

NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)

SNV
Germline

Chr17:43104882

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
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
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA348195

rs_864622444

7 SubmittersRCV000203904 RCV001180532 RCV002500651 RCV001077807

NM_007294.4(BRCA1):c.107C>A (p.Ser36Tyr)

SNV
Germline

Chr17:43115753

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
not specified

Criteria Provided
Conflicting Classifications

CA052433

rs_183557525

12 SubmittersRCV000204917 RCV000587859 RCV000563749 RCV004804837 RCV000989916 RCV005361173 RCV003389638

NM_058216.3(RAD51C):c.485G>A (p.Gly162Glu)

SNV
Germline

Chr17:58696773

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA349722

rs_35151472

8 SubmittersRCV000205588 RCV000214777 RCV000679799 RCV004020527

NM_058216.3(RAD51C):c.748C>T (p.His250Tyr)

SNV
Germline

Chr17:58709901

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA349893

rs_531540031

7 SubmittersRCV000205780 RCV000564023 RCV003237768 RCV003462381

NM_058216.3(RAD51C):c.960G>C (p.Lys320Asn)

SNV
Germline

Chr17:58724095

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA348863

rs_864622395

8 SubmittersRCV000213392 RCV000204660 RCV000780666 RCV001762438 RCV005025331 RCV003468942

NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)

SNV
Germline

Chr17:61683615

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial ovarian cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA350798

rs_774605759

10 SubmittersRCV000206799 RCV000411587 RCV000581063 RCV002466467 RCV003316132 RCV005361177 RCV005430268

NM_032043.3(BRIP1):c.3266C>G (p.Ser1089Cys)

SNV
Germline

Chr17:61683780

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349425

rs_761278503

3 SubmittersRCV000568092 RCV001369002 RCV001194752

NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)

SNV
Germline

Chr17:61685940

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA348966

rs_778916092

8 SubmittersRCV000204761 RCV000320950 RCV000221756 RCV001575907 RCV001192827 RCV005361171

NM_032043.3(BRIP1):c.1341-3C>G

SNV
Germline

Chr17:61793732

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348725

rs_864622597

7 SubmittersRCV000204500 RCV000568412 RCV000709549 RCV001348527 RCV001753619

NM_032043.3(BRIP1):c.508-1G>C

SNV
Germline

Chr17:61847221

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA348058

rs_864622277

9 SubmittersRCV000203783 RCV000449088 RCV001781610 RCV003316134 RCV003477682 RCV005430269

NM_032043.3(BRIP1):c.293A>G (p.Asn98Ser)

SNV
Germline

Chr17:61857144

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA350472

rs_781121675

7 SubmittersRCV000567628 RCV000206440 RCV000478530 RCV004689675

NM_021922.3(FANCE):c.598C>T (p.Arg200Cys)

SNV
Germline

Chr6:35456096

Conflicting classifications of pathogenicity

Carcinoma of colon
Fanconi anemia complementation group E
not specified

Criteria Provided
Conflicting Classifications

CA3771446

rs_763151358

4 SubmittersRCV000416904 RCV000649006 RCV003488462

NM_007294.4(BRCA1):c.301+6T>C

SNV
Germline

Chr17:43104862

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-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA055594

rs_753859240

13 SubmittersRCV000210142 RCV000584261 RCV000234331 RCV000507484 RCV003159109 RCV002478759

NM_032043.3(BRIP1):c.2576-2A>G

SNV
Germline

Chr17:61686167

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA353505

rs_869312763

6 SubmittersRCV000210117 RCV000796090 RCV001781630 RCV003335229

NM_032043.3(BRIP1):c.1340+5G>C

SNV
Germline

Chr17:61799095

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA353521

rs_869312791

5 SubmittersRCV000210143 RCV001070293 RCV003474990

NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)

SNV
Germline

Chr16:89758617

Conflicting classifications of pathogenicity

Inborn genetic diseases
Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA358217

rs_191943709

6 SubmittersRCV000210699 RCV000458460 RCV000675145

NM_001113378.2(FANCI):c.158-2A>G

SNV
Germline

Chr15:89260711

Pathogenic/Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA7722517

rs_762128147

3 SubmittersRCV000490489 RCV003522949

NM_024675.4(PALB2):c.2755G>A (p.Val919Ile)

SNV
Germline

Chr16:23624088

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Breast and/or ovarian cancer
Chordoma
not specified

Criteria Provided
Conflicting Classifications

CA7963488

rs_775193384

10 SubmittersRCV000211057 RCV000454132 RCV000478723 RCV005016571 RCV003150103 RCV002266935 RCV002465567

NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)

SNV
Germline

Chr9:95101721

Conflicting classifications of pathogenicity

Fanconi anemia complementation group C
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA5137288

rs_370974124

10 SubmittersRCV000505654 RCV000218828 RCV002399801 RCV000818572

NM_000136.3(FANCC):c.1508C>T (p.Thr503Met)

SNV
Germline

Chr9:95107091

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
FANCC-related disorder
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA5137322

rs_779982610

6 SubmittersRCV000222127 RCV000799605 RCV001011947 RCV004748668 RCV005044460

NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg)

SNV
Germline

Chr9:95101750

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA5137290

rs_571668582

6 SubmittersRCV000214884 RCV000543270 RCV001012385 RCV001355318

NM_000136.3(FANCC):c.1144C>G (p.Gln382Glu)

SNV
Germline

Chr9:95114639

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA5137453

rs_778968824

5 SubmittersRCV000218892 RCV001828093 RCV002450653 RCV005044462

NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser)

SNV
Germline

Chr9:95107236

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group C
Fanconi anemia complementation group A
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137339

rs_730881724

8 SubmittersRCV000220014 RCV000456548 RCV000709081 RCV000988198 RCV001011135

NM_000136.3(FANCC):c.472G>C (p.Ala158Pro)

SNV
Germline

Chr9:95171128

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
Familial ovarian cancer
Fanconi anemia complementation group C
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA10577378

rs_372338418

9 SubmittersRCV000221946 RCV000477104 RCV000575115 RCV001358152 RCV003144167 RCV004748667

NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)

SNV
Germline

Chr13:32339580

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940856

rs_756463217

15 SubmittersRCV000216156 RCV000382610 RCV000325274 RCV000509611 RCV000780045 RCV003483582 RCV003493535 RCV003607271 RCV004804935

NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn)

SNV
Germline

Chr17:61684052

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690414

rs_757225144

6 SubmittersRCV000217097 RCV000220971 RCV000544259 RCV000989984

NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)

SNV
Germline

Chr17:61685887

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Familial ovarian cancer
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA8690447

rs_200239986

15 SubmittersRCV000214349 RCV000215700 RCV001030466 RCV000709536 RCV000989990 RCV000227974 RCV001194733 RCV005361326 RCV005430283

NM_032043.3(BRIP1):c.1760A>T (p.His587Leu)

SNV
Germline

Chr17:61780874

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA10577562

rs_876660646

9 SubmittersRCV000219246 RCV000216569 RCV000460900 RCV001194199 RCV003316230 RCV005430286

NM_032043.3(BRIP1):c.629C>A (p.Pro210His)

SNV
Germline

Chr17:61808756

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690872

rs_140097800

11 SubmittersRCV000213204 RCV000214330 RCV000990027 RCV000465031 RCV005600837

NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter)

SNV
Germline

Chr17:61780858

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA8690674

rs_753023295

5 SubmittersRCV000215063 RCV001013105 RCV001047429 RCV003335268 RCV005361360

NM_032043.3(BRIP1):c.380-9T>C

SNV
Germline

Chr17:61849265

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10577567

rs_876661141

3 SubmittersRCV000217751 RCV001089355 RCV004791350

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
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1

Criteria Provided
Conflicting Classifications

CA6940501

rs_768169574

6 SubmittersRCV000222738 RCV000701503 RCV001115059 RCV001115060

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 SubmittersRCV000221868 RCV000696715 RCV001109616 RCV001109617 RCV002478813 RCV003150129

NM_000059.4(BRCA2):c.5267T>A (p.Val1756Glu)

SNV
Germline

Chr13:32339622

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940863

rs_770664957

6 SubmittersRCV000216072 RCV000985541 RCV001112466 RCV001112024 RCV001854705 RCV005361346

NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu)

SNV
Germline

Chr13:32340702

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579690

rs_55953736

8 SubmittersRCV000219720 RCV001535551 RCV005361308 RCV001071124 RCV001311839 RCV003997951

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
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6941257

rs_755783122

8 SubmittersRCV000215245 RCV000232530 RCV000307069 RCV000662587 RCV000503308 RCV003477718

NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)

SNV
Germline

Chr16:23603526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Chordoma

Criteria Provided
Conflicting Classifications

CA7963328

rs_773829275

12 SubmittersRCV000220953 RCV002478804 RCV000485944 RCV000535759 RCV001121621 RCV002266936

NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr)

SNV
Germline

Chr16:23603608

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA7963343

rs_577651839

8 SubmittersRCV000215508 RCV000686283 RCV000759188 RCV005016592

NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr)

SNV
Germline

Chr16:23603628

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA10579918

rs_876658196

10 SubmittersRCV000215576 RCV000229527 RCV000590765 RCV005396705

NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg)

SNV
Germline

Chr16:23607989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA7963396

rs_202222149

7 SubmittersRCV000218610 RCV000466966 RCV002500726 RCV005396711

NM_024675.4(PALB2):c.3113+5G>C

SNV
Germline

Chr16:23621357

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10579931

rs_876659463

13 SubmittersRCV000214215 RCV000231026 RCV000255512 RCV005016593 RCV005416112

NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)

SNV
Germline

Chr16:23622987

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963457

rs_61756146

12 SubmittersRCV000213330 RCV000236936 RCV000544190 RCV002267960 RCV002478799 RCV005396720

NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)

SNV
Germline

Chr16:23622997

Pathogenic

Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10579941

rs_876659036

10 SubmittersRCV000219424 RCV000504617 RCV000657700 RCV000635907 RCV004796114 RCV005361290

NM_024675.4(PALB2):c.2667T>A (p.Thr889=)

SNV
Germline

Chr16:23626317

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579957

rs_876659224

4 SubmittersRCV000216116 RCV001118199 RCV005090094

NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu)

SNV
Germline

Chr16:23629642

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579963

rs_750650768

6 SubmittersRCV000213341 RCV000635607 RCV002478788 RCV003223625

NM_024675.4(PALB2):c.2506G>C (p.Val836Leu)

SNV
Germline

Chr16:23629648

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
B lymphoblastic leukemia lymphoma with t(12
21)(p13
q22)
TEL-AML1 (ETV6-RUNX1)
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA7963565

rs_536644825

6 SubmittersRCV000215537 RCV000687946 RCV000761094 RCV002494591

NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)

SNV
Germline

Chr16:23629648

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA7963564

rs_536644825

12 SubmittersRCV000214970 RCV000586837 RCV000457210 RCV001420721 RCV005016588 RCV005361295

NM_024675.4(PALB2):c.2167A>T (p.Met723Leu)

SNV
Germline

Chr16:23629987

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA10579981

rs_876660336

5 SubmittersRCV000217611 RCV000467128 RCV003153509 RCV005016605

NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)

SNV
Germline

Chr16:23630235

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Multiple Submitters
No Conflicts

CA7963646

rs_760094988

10 SubmittersRCV000214899 RCV000479396 RCV000545701 RCV005016586

NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala)

SNV
Germline

Chr16:23630236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA10579991

rs_876659058

7 SubmittersRCV000221223 RCV000635882 RCV002478798 RCV002509316

NM_024675.4(PALB2):c.1918T>A (p.Ser640Thr)

SNV
Germline

Chr16:23630236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA10579992

rs_876659058

2 SubmittersRCV000221530 RCV003133189

NM_024675.4(PALB2):c.1767G>A (p.Thr589=)

SNV
Germline

Chr16:23630387

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963663

rs_769849072

13 SubmittersRCV000217926 RCV001121719 RCV000457514 RCV000436798 RCV005365148 RCV004532777 RCV002478785

NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys)

SNV
Germline

Chr16:23630452

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10580001

rs_876659354

7 SubmittersRCV000214422 RCV000818865 RCV002494593 RCV004541351 RCV004701288

NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)

SNV
Germline

Chr16:23635006

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963698

rs_756778249

12 SubmittersRCV000214985 RCV000589880 RCV000989570 RCV001027798 RCV003224228

NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly)

SNV
Germline

Chr16:23635467

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA10580022

rs_876659751

8 SubmittersRCV000220824 RCV000679759 RCV000459883 RCV002500734

NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser)

SNV
Germline

Chr16:23635474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA10580023

rs_876660876

6 SubmittersRCV000220349 RCV000235363 RCV000466160 RCV002494599

NM_024675.4(PALB2):c.1052C>A (p.Thr351Lys)

SNV
Germline

Chr16:23635494

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA10580024

rs_876658656

5 SubmittersRCV000218423 RCV000531194 RCV005016578

NM_024675.4(PALB2):c.583A>G (p.Ile195Val)

SNV
Germline

Chr16:23635963

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA7963779

rs_760784181

8 SubmittersRCV000215618 RCV001030160 RCV001234307 RCV005016591 RCV005365161

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
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA10580498

rs_876658672

8 SubmittersRCV000223034 RCV000257427 RCV001386034 RCV004796113

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

8 SubmittersRCV000218067 RCV000796831 RCV000989872 RCV002470823

NM_007294.4(BRCA1):c.3815A>G (p.Asn1272Ser)

SNV
Germline

Chr17:43091716

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA1-related cancer predisposition
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA059173

rs_772703445

8 SubmittersRCV000222961 RCV001087816 RCV000759528 RCV000780977 RCV004804909 RCV005016599

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
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580575

rs_876658975

7 SubmittersRCV000220855 RCV000554549 RCV001582748 RCV005365154

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
not specified
BRCA1-related cancer predisposition
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10580587

rs_876659270

12 SubmittersRCV000217575 RCV000238878 RCV000480997 RCV000813770 RCV004689681 RCV004804887 RCV005361297

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
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580608

rs_876658843

6 SubmittersRCV000213188 RCV000764122 RCV001589144 RCV001051347

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
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

CA10580645

rs_876660144

5 SubmittersRCV000218573 RCV001039828 RCV002485428

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
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA057600

rs_8176154

8 SubmittersRCV000222216 RCV000438203 RCV000533270 RCV001125931 RCV001722185 RCV005365156

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
Condition: not provided
not specified
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580659

rs_876659028

8 SubmittersRCV000213495 RCV000703330 RCV001762483 RCV001527044 RCV002503869 RCV003233502

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
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA056948

rs_748156170

9 SubmittersRCV000220053 RCV000231864 RCV000506531 RCV001731443 RCV002485416 RCV003997808

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
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA056863

rs_772684048

13 SubmittersRCV000217932 RCV000501807 RCV000537146 RCV001353575 RCV001689754 RCV005016602 RCV004804918

NM_007294.4(BRCA1):c.122A>T (p.His41Leu)

SNV
Germline

Chr17:43115738

Likely 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
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10580711

rs_80357276

10 SubmittersRCV000221074 RCV000238698 RCV000484008 RCV001194451 RCV001292947 RCV005415419

NM_058216.3(RAD51C):c.52C>T (p.Pro18Ser)

SNV
Germline

Chr17:58692695

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Childhood neoplasm
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677131

rs_547142453

7 SubmittersRCV000215646 RCV000482836 RCV000810573 RCV005621922 RCV004567608

NM_058216.3(RAD51C):c.145+1G>T

SNV
Germline

Chr17:58692789

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10580723

rs_757128712

7 SubmittersRCV000216860 RCV000479141 RCV000648240 RCV003469087

NM_058216.3(RAD51C):c.187A>G (p.Ile63Val)

SNV
Germline

Chr17:58694972

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA10580726

rs_876659694

3 SubmittersRCV000223522 RCV003765425

NM_058216.3(RAD51C):c.315A>G (p.Ser105=)

SNV
Germline

Chr17:58695100

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
RAD51C-related disorder

Criteria Provided
Conflicting Classifications

CA10580732

rs_876660032

7 SubmittersRCV000220432 RCV000461218 RCV001785524 RCV005420833 RCV004532802

NM_058216.3(RAD51C):c.397C>A (p.Gln133Lys)

SNV
Germline

Chr17:58695182

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA10580738

rs_387907159

6 SubmittersRCV000217976 RCV000236579 RCV000648257 RCV003469089

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

10 SubmittersRCV000217463 RCV000458645 RCV000709503 RCV001582758 RCV002467443

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
not specified

Criteria Provided
Conflicting Classifications

CA8677291

rs_201529791

10 SubmittersRCV000220889 RCV000475356 RCV000709507 RCV000759334 RCV003153507 RCV004701292

NM_058216.3(RAD51C):c.705+1G>A

SNV
Germline

Chr17:58703330

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA10580748

rs_876658644

6 SubmittersRCV000218961 RCV002503867 RCV004020657 RCV000648247

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 SubmittersRCV000214496 RCV000409976 RCV000411579 RCV000709511

NM_058216.3(RAD51C):c.837+1G>A

SNV
Germline

Chr17:58709991

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Ovarian neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA8677333

rs_760235677

6 SubmittersRCV000024267 RCV000221081 RCV000986012 RCV001225213 RCV001195027

NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)

SNV
Germline

Chr17:58724049

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 3
RAD51C-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10580757

rs_876659874

14 SubmittersRCV000221970 RCV000236899 RCV000541903 RCV000662608 RCV002221519 RCV004532797

NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln)

SNV
Germline

Chr17:58724070

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8677363

rs_779834376

9 SubmittersRCV000222506 RCV002290965 RCV001753654 RCV005251098 RCV000505229 RCV005600827

NM_058216.3(RAD51C):c.987A>T (p.Ser329=)

SNV
Germline

Chr17:58732505

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA10580764

rs_876659303

5 SubmittersRCV000216715 RCV001485533 RCV003477735 RCV005420811

NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter)

SNV
Germline

Chr17:58732523

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8677385

rs_759292615

4 SubmittersRCV000220031 RCV000232127 RCV000657741 RCV005425836

NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu)

SNV
Germline

Chr17:61683309

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580767

rs_876660074

6 SubmittersRCV000222505 RCV000636105 RCV001262871 RCV004591002

NM_032043.3(BRIP1):c.3475G>A (p.Ala1159Thr)

SNV
Germline

Chr17:61683571

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580771

rs_368610199

5 SubmittersRCV000222116 RCV000521348 RCV000808973

NM_032043.3(BRIP1):c.3277C>T (p.Leu1093Phe)

SNV
Germline

Chr17:61683769

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580779

rs_876660638

3 SubmittersRCV000217837 RCV003765440

NM_032043.3(BRIP1):c.3079G>A (p.Glu1027Lys)

SNV
Germline

Chr17:61683967

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
not specified
BRIP1-related disorder
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690401

rs_371185409

10 SubmittersRCV000215643 RCV000484982 RCV001087512 RCV001818520 RCV004732795 RCV005055091 RCV005361269

NM_032043.3(BRIP1):c.2905+1G>A

SNV
Germline

Chr17:61685835

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10580785

rs_876660203

4 SubmittersRCV000216911 RCV000555856 RCV003316227 RCV005430284

NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val)

SNV
Germline

Chr17:61686055

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690466

rs_764406913

6 SubmittersRCV000222623 RCV000481975 RCV000458509 RCV001798718

NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)

SNV
Germline

Chr17:61776445

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10580817

rs_876659533

5 SubmittersRCV000223392 RCV001041952 RCV003316221 RCV005430281

NM_032043.3(BRIP1):c.1780T>G (p.Leu594Val)

SNV
Germline

Chr17:61780854

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580828

rs_876658256

2 SubmittersRCV000218008 RCV001066364

NM_032043.3(BRIP1):c.1759C>G (p.His587Asp)

SNV
Germline

Chr17:61780875

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA10580830

rs_876660519

9 SubmittersRCV000218989 RCV000482369 RCV000473133 RCV003316229 RCV005430285

NM_032043.3(BRIP1):c.1704T>G (p.Asn568Lys)

SNV
Germline

Chr17:61780930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690685

rs_763458922

5 SubmittersRCV000221496 RCV000636144 RCV002291598 RCV003462435

NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly)

SNV
Germline

Chr17:61780946

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690687

rs_577768294

7 SubmittersRCV000218250 RCV000227822 RCV002222450 RCV002291600 RCV003238743

NM_032043.3(BRIP1):c.1473+1G>A

SNV
Germline

Chr17:61793596

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10580841

rs_748274524

5 SubmittersRCV000216204 RCV001857773 RCV003335251

NM_032043.3(BRIP1):c.1283A>C (p.Asn428Thr)

SNV
Germline

Chr17:61799157

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690768

rs_779237423

6 SubmittersRCV000219872 RCV000559529 RCV001533933 RCV003462473

NM_032043.3(BRIP1):c.1045G>T (p.Ala349Ser)

SNV
Germline

Chr17:61801348

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580847

rs_149364097

3 SubmittersRCV000213526 RCV001051721 RCV002466471

NM_032043.3(BRIP1):c.725A>G (p.Lys242Arg)

SNV
Germline

Chr17:61808660

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580861

rs_876660647

5 SubmittersRCV000222563 RCV000545432 RCV001194706

NM_032043.3(BRIP1):c.627+5G>A

SNV
Germline

Chr17:61847096

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690897

rs_745727200

7 SubmittersRCV000218647 RCV000234365 RCV002267958 RCV003150982 RCV004567567

NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg)

SNV
Germline

Chr17:61847102

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
not specified

Criteria Provided
Conflicting Classifications

CA10580865

rs_748912293

8 SubmittersRCV000220042 RCV000464761 RCV001561778 RCV002288845 RCV003144166 RCV003321547

NM_032043.3(BRIP1):c.618G>T (p.Ser206=)

SNV
Germline

Chr17:61847110

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580866

rs_367614726

8 SubmittersRCV000216368 RCV000588898 RCV001433289 RCV001580083 RCV004786576

NM_032043.3(BRIP1):c.533C>T (p.Thr178Ile)

SNV
Germline

Chr17:61847195

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580871

rs_876658780

7 SubmittersRCV000219733 RCV000555022 RCV000478045

NM_032043.3(BRIP1):c.508-2A>T

SNV
Germline

Chr17:61847222

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10580872

rs_876659707

3 SubmittersRCV000214929 RCV000695130 RCV003335258

NM_032043.3(BRIP1):c.507G>A (p.Gln169=)

SNV
Germline

Chr17:61849129

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10580873

rs_876660937

7 SubmittersRCV000220906 RCV000463637 RCV000486318 RCV003463607

NM_032043.3(BRIP1):c.465A>G (p.Gln155=)

SNV
Germline

Chr17:61849171

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580876

rs_876659453

4 SubmittersRCV000219816 RCV000636170 RCV001775686 RCV003462484

NM_032043.3(BRIP1):c.400C>A (p.Leu134Met)

SNV
Germline

Chr17:61849236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA10580879

rs_876658195

8 SubmittersRCV000221937 RCV000463838 RCV002508202 RCV002466470 RCV005600826

NM_032043.3(BRIP1):c.363T>A (p.Thr121=)

SNV
Germline

Chr17:61857074

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA10580883

rs_876660306

5 SubmittersRCV000222928 RCV000473212 RCV003477759 RCV004786602 RCV005361334

NM_032043.3(BRIP1):c.362C>G (p.Thr121Ser)

SNV
Germline

Chr17:61857075

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690958

rs_777630298

5 SubmittersRCV000216740 RCV000705215 RCV001800562

NM_032043.3(BRIP1):c.93+5G>A

SNV
Germline

Chr17:61861442

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580895

rs_730881629

5 SubmittersRCV000214234 RCV001308700 RCV002288861

NM_032043.3(BRIP1):c.56A>G (p.Tyr19Cys)

SNV
Germline

Chr17:61861484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580898

rs_876660880

4 SubmittersRCV000217783 RCV000636140 RCV003441804

NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter)

SNV
Germline

Chr17:61861516

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA8691019

rs_752411477

4 SubmittersRCV000216493 RCV001853547 RCV003335253 RCV005361294

NM_032043.3(BRIP1):c.10A>G (p.Met4Val)

SNV
Germline

Chr17:61861530

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Malignant tumor of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10580900

rs_45512093

7 SubmittersRCV000216902 RCV000467101 RCV001354597 RCV003148687 RCV004767177

NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)

SNV
Germline

Chr9:95150074

Pathogenic/Likely pathogenic

Fanconi anemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

CA5137697

rs_769039987

9 SubmittersRCV000704130 RCV001023972 RCV000224844 RCV000984264

NM_018062.4(FANCL):c.963T>A (p.Asp321Glu)

SNV
Germline

Chr2:58161579

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
FANCL-related disorder
Fanconi anemia complementation group L

Criteria Provided
Conflicting Classifications

CA1670371

rs_140088149

5 SubmittersRCV000233098 RCV001820756 RCV003955361 RCV003316291

NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr)

SNV
Germline

Chr3:10034732

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA2249178

rs_143936557

5 SubmittersRCV000228749 RCV000239243 RCV002274988 RCV003967665

NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly)

SNV
Germline

Chr3:10043147

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA2249427

rs_116736407

5 SubmittersRCV000232279 RCV000238670 RCV002274950 RCV003967666

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
not specified

Criteria Provided
Conflicting Classifications

CA2249667

rs_375412395

6 SubmittersRCV000234648 RCV001144941 RCV001557731 RCV002225530 RCV005434746

NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln)

SNV
Germline

Chr3:10067267

Pathogenic

Fanconi anemia
Fanconi anemia complementation group D2
Condition: not provided
FANCD2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2250085

rs_766567785

9 SubmittersRCV000234321 RCV001194923 RCV004701326 RCV004754365

NM_004629.2(FANCG):c.1545C>T (p.Ala515=)

SNV
Germline

Chr9:35075018

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5039701

rs_201422773

7 SubmittersRCV000233650 RCV001168310 RCV003430788 RCV004975348

NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)

SNV
Germline

Chr9:35076767

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
FANCG-related disorder
Fanconi anemia complementation group G

Criteria Provided
Conflicting Classifications

CA5039921

rs_17880082

5 SubmittersRCV000228244 RCV000502617 RCV003955346 RCV000764833

NM_004629.2(FANCG):c.293G>A (p.Arg98Gln)

SNV
Germline

Chr9:35078619

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5040093

rs_372854981

4 SubmittersRCV000234010 RCV001833247 RCV004975350

NM_000136.3(FANCC):c.1170C>G (p.Pro390=)

SNV
Germline

Chr9:95111622

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Condition: not provided
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA10582665

rs_878853668

5 SubmittersRCV000234196 RCV001010120 RCV001668390 RCV003982972

NM_000136.3(FANCC):c.760A>G (p.Met254Val)

SNV
Germline

Chr9:95135429

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137637

rs_757294568

8 SubmittersRCV000231342 RCV001026618 RCV001274479 RCV001354988 RCV001551720

NM_000136.3(FANCC):c.521+1G>A

SNV
Germline

Chr9:95171078

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome
Condition: not provided
FANCC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10582670

rs_145394391

9 SubmittersRCV000230742 RCV000780230 RCV001023734 RCV003229824 RCV003897513

NM_000136.3(FANCC):c.166-5C>T

SNV
Germline

Chr9:95247521

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137812

rs_753820400

5 SubmittersRCV000232327 RCV000988222 RCV001012621 RCV001722206

NM_022725.4(FANCF):c.465A>T (p.Pro155=)

SNV
Germline

Chr11:22625346

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
Fanconi anemia complementation group F

Criteria Provided
Conflicting Classifications

CA5924326

rs_201215734

5 SubmittersRCV000233336 RCV000501594 RCV001091515 RCV001094013

NM_022725.4(FANCF):c.349C>A (p.Pro117Thr)

SNV
Germline

Chr11:22625462

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Ovarian cancer
FANCF-related disorder
Fanconi anemia complementation group F

Criteria Provided
Conflicting Classifications

CA5924364

rs_372625322

6 SubmittersRCV000229804 RCV001820763 RCV003153540 RCV003955369 RCV003316303

NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)

SNV
Germline

Chr11:22625570

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group F
not specified
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA5924392

rs_145057187

8 SubmittersRCV000225823 RCV000764969 RCV001820762 RCV003884425 RCV003492014

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
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA6940341

rs_773097109

8 SubmittersRCV000229296 RCV000378354 RCV000579746 RCV000607980 RCV000586995 RCV001094073 RCV001357840

NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu)

SNV
Germline

Chr14:45151518

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7168910

rs_151071546

6 SubmittersRCV000233464 RCV001820757 RCV002255337 RCV001570689

NM_020937.4(FANCM):c.2517T>G (p.Ile839Met)

SNV
Germline

Chr14:45175271

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome
FANCM-related disorder
Spermatogenic failure 28
Premature ovarian failure 15

Criteria Provided
Conflicting Classifications

CA7169365

rs_61744648

6 SubmittersRCV000227957 RCV001536588 RCV002256168 RCV004541448 RCV005008204

NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val)

SNV
Germline

Chr14:45189246

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
Spermatogenic failure 28
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7169934

rs_143662421

9 SubmittersRCV000231642 RCV000253417 RCV000658692 RCV001331161 RCV002257595

NM_001113378.2(FANCI):c.507G>A (p.Trp169Ter)

SNV
Germline

Chr15:89263422

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA10583263

rs_878854181

1 SubmittersRCV000230835

NM_001113378.2(FANCI):c.753C>T (p.Asp251=)

SNV
Germline

Chr15:89264605

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7722741

rs_151169233

8 SubmittersRCV000233693 RCV001094367 RCV001572978

NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)

SNV
Germline

Chr15:89281825

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
Fanconi anemia complementation group I
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA7723058

rs_144908351

10 SubmittersRCV000228956 RCV000482252 RCV000766508 RCV001094276 RCV003955318

NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met)

SNV
Germline

Chr15:89305390

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA7723642

rs_191202700

3 SubmittersRCV000233382 RCV001119128 RCV003967621

NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly)

SNV
Germline

Chr16:13926675

Conflicting classifications of pathogenicity

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
ERCC4-related disorder
XFE progeroid syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Conflicting Classifications

CA7910211

rs_2020961

4 SubmittersRCV000226103 RCV001294109 RCV003929973 RCV005016640

NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)

SNV
Germline

Chr16:23623125

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Inherited breast cancer and ovarian cancer
not specified
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA7963465

rs_45464500

10 SubmittersRCV000229185 RCV000564890 RCV000587839 RCV005055099 RCV005238770 RCV005003582

NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)

SNV
Germline

Chr16:23629953

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
not specified
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA10583365

rs_878855107

17 SubmittersRCV000233965 RCV000569446 RCV001119746 RCV001566044 RCV001820767 RCV002487088 RCV004739637 RCV005361461

NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile)

SNV
Germline

Chr16:23635083

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963705

rs_767926590

8 SubmittersRCV000226177 RCV000564692 RCV000589383 RCV002487087

NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)

SNV
Germline/somatic

Chr16:23638099

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Fanconi anemia complementation group N
Lung cancer
PALB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10583387

rs_878855122

16 SubmittersRCV000228882 RCV000255635 RCV000454231 RCV001175093 RCV002500815 RCV003485568 RCV002282082 RCV004532964

NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser)

SNV
Germline

Chr16:3582346

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Fanconi anemia
Fanconi anemia complementation group P
Intellectual disability

Criteria Provided
Conflicting Classifications

CA7865286

rs_111738042

14 SubmittersRCV000243677 RCV000440447 RCV001086807 RCV001121536 RCV005625472

NM_032444.4(SLX4):c.4057C>A (p.His1353Asn)

SNV
Germline

Chr16:3589581

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7865745

rs_142205392

9 SubmittersRCV000232675 RCV001094330 RCV001556641 RCV001820768

NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)

SNV
Germline

Chr16:3591029

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7866124

rs_149584080

7 SubmittersRCV000234592 RCV000764059 RCV001194825 RCV004808649

NM_032444.4(SLX4):c.1707G>A (p.Pro569=)

SNV
Germline

Chr16:3596370

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group P
SLX4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7866429

rs_141687678

6 SubmittersRCV000233120 RCV000500445 RCV001094396 RCV003907895 RCV004808648

NM_032444.4(SLX4):c.590T>C (p.Val197Ala)

SNV
Germline

Chr16:3606644

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Fanconi anemia
Fanconi anemia complementation group P
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7866815

rs_147826749

10 SubmittersRCV000234484 RCV000502872 RCV001084818 RCV001120033 RCV003939891

NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)

SNV
Germline

Chr16:3608544

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Malignant tumor of breast
Fanconi anemia complementation group A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7866881

rs_137976282

12 SubmittersRCV000233422 RCV000764068 RCV001005038 RCV000989506 RCV001194829 RCV001570886

NM_032444.4(SLX4):c.231A>G (p.Gln77=)

SNV
Germline

Chr16:3608734

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group P
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7866923

rs_143279888

5 SubmittersRCV000227640 RCV000247784 RCV001094250 RCV003884426

NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)

SNV
Germline

Chr16:89746621

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251141

rs_762837582

4 SubmittersRCV000232454 RCV000765323 RCV004791354

NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)

SNV
Germline

Chr16:89746848

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA8251197

rs_574034197

16 SubmittersRCV000230300 RCV000498721 RCV000665186

NM_000135.4(FANCA):c.2799A>G (p.Leu933=)

SNV
Germline

Chr16:89762002

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251499

rs_148250597

7 SubmittersRCV000234002 RCV001094432 RCV001818560 RCV003477786 RCV004975340

NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)

SNV
Germline

Chr16:89791422

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8252400

rs_149551759

9 SubmittersRCV000226416 RCV001094425 RCV001762513 RCV003401165

NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr)

SNV
Germline

Chr16:89799190

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252715

rs_185984960

6 SubmittersRCV000231055 RCV001274646 RCV002261014 RCV004020741

NM_000135.4(FANCA):c.709+5G>T

SNV
Germline

Chr16:89805275

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA10583443

rs_759877008

3 SubmittersRCV000233245 RCV001256557

NM_000135.4(FANCA):c.694A>C (p.Arg232=)

SNV
Germline

Chr16:89805295

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252854

rs_61757384

8 SubmittersRCV000229339 RCV001117078 RCV001532335 RCV002478833 RCV004975343

NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)

SNV
Germline

Chr16:89815909

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8253156

rs_61757383

9 SubmittersRCV000231985 RCV001092318 RCV001094448

NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)

SNV
Germline

Chr16:89816575

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8253266

rs_762648754

9 SubmittersRCV000665027 RCV000233505 RCV001770188 RCV001818561

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
Hereditary breast ovarian cancer syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10583565

rs_878854949

9 SubmittersRCV000502901 RCV000573048 RCV001084868 RCV000588711 RCV005016641

NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu)

SNV
Germline

Chr17:43092128

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
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

Criteria Provided
Conflicting Classifications

CA057887

rs_80357136

6 SubmittersRCV000226768 RCV000568567 RCV000484753 RCV000764119

NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile)

SNV
Germline

Chr17:58695018

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677187

rs_112832782

10 SubmittersRCV000231279 RCV000236604 RCV000568017 RCV001354084 RCV002487092 RCV003463687

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
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677188

rs_149228565

8 SubmittersRCV000575965 RCV000766483 RCV001087739 RCV003315240 RCV004532968 RCV005420926

NM_058216.3(RAD51C):c.403T>C (p.Cys135Arg)

SNV
Germline

Chr17:58695188

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA10583603

rs_878855178

5 SubmittersRCV000231632 RCV000582369 RCV003153542 RCV005246901

NM_058216.3(RAD51C):c.622A>G (p.Ile208Val)

SNV
Germline

Chr17:58703246

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677283

rs_771078849

7 SubmittersRCV000230917 RCV000568792 RCV001561241 RCV003469163

NM_058216.3(RAD51C):c.837+1G>T

SNV
Germline

Chr17:58709991

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10583607

rs_760235677

7 SubmittersRCV000226369 RCV000481912 RCV000409098 RCV003317171 RCV003298308 RCV005016643

NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr)

SNV
Germline

Chr17:61683784

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA10583613

rs_878855154

9 SubmittersRCV000228140 RCV000564840 RCV001354748 RCV001284120 RCV004532967

NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr)

SNV
Germline

Chr17:61683924

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8690394

rs_761225576

4 SubmittersRCV000233906 RCV000989983 RCV001175823

NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)

SNV
Germline

Chr17:61715964

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10583622

rs_786203898

5 SubmittersRCV000229009 RCV000580273 RCV003335280

NM_032043.3(BRIP1):c.2238C>A (p.Ile746=)

SNV
Germline

Chr17:61744451

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10583623

rs_876660416

5 SubmittersRCV000230937 RCV001183557 RCV003332156 RCV004786626

NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter)

SNV
Germline

Chr17:61744551

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10583625

rs_878855145

2 SubmittersRCV000229169 RCV003335279

NM_032043.3(BRIP1):c.1936-2A>G

SNV
Germline

Chr17:61776564

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA10583628

rs_878855143

3 SubmittersRCV000232507 RCV001013770 RCV001782726

NM_032043.3(BRIP1):c.1368T>C (p.Leu456=)

SNV
Germline

Chr17:61793702

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA10583633

rs_878855138

8 SubmittersRCV000231517 RCV000570575 RCV000601594 RCV004786622 RCV004999161 RCV004532965

NM_032043.3(BRIP1):c.1170C>T (p.Val390=)

SNV
Germline

Chr17:61799270

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690778

rs_754755989

7 SubmittersRCV000234456 RCV000574241 RCV001582791 RCV001356030 RCV004791364

NM_032043.3(BRIP1):c.357T>A (p.Asn119Lys)

SNV
Germline

Chr17:61857080

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583641

rs_786202477

2 SubmittersRCV000229479 RCV004020884

NM_005431.2(XRCC2):c.644G>A (p.Arg215Gln)

SNV
Germline

Chr7:152648841

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group U

Criteria Provided
Conflicting Classifications

CA4582316

rs_762828701

4 SubmittersRCV000235653 RCV000564280 RCV000988013

NM_005431.2(XRCC2):c.181C>A (p.Leu61Ile)

SNV
Germline

Chr7:152649304

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group U
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4582377

rs_569810249

5 SubmittersRCV001013301 RCV000765952 RCV000657067

NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)

SNV
Germline

Chr16:23629719

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA7963575

rs_774502617

9 SubmittersRCV000235316 RCV000635929 RCV000575251 RCV001357974 RCV002494681 RCV003330604

NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala)

SNV
Germline

Chr16:23629957

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA10584511

rs_879254051

7 SubmittersRCV000236085 RCV000470751 RCV000571493 RCV002487097 RCV005230178

NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys)

SNV
Germline

Chr16:23630006

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963617

rs_770145849

7 SubmittersRCV000236038 RCV000464776 RCV000574979 RCV002479940

NM_024675.4(PALB2):c.205C>T (p.His69Tyr)

SNV
Germline

Chr16:23637856

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA10584525

rs_879253891

8 SubmittersRCV000236918 RCV000575557 RCV000823428 RCV000781688 RCV002494677

NM_058216.3(RAD51C):c.121G>C (p.Val41Leu)

SNV
Germline

Chr17:58692764

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA10584579

rs_879254131

5 SubmittersRCV000235241 RCV000567552 RCV002500834 RCV000648254 RCV004567778

NM_058216.3(RAD51C):c.135G>C (p.Glu45Asp)

SNV
Germline

Chr17:58692778

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA8677151

rs_371608994

4 SubmittersRCV000236631 RCV000564011 RCV000553107

NM_058216.3(RAD51C):c.869T>C (p.Ile290Thr)

SNV
Germline

Chr17:58720777

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677345

rs_749645694

7 SubmittersRCV000236194 RCV000524726 RCV000575382 RCV004567779

NM_058216.3(RAD51C):c.905-2A>G

SNV
Germline

Chr17:58724038

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10584582

rs_779582317

5 SubmittersRCV000236382 RCV000473356 RCV000575723 RCV004020924

NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)

SNV
Germline

ChrX:14845014

Conflicting classifications of pathogenicity

Fanconi anemia complementation group B
VACTERL association, X-linked, with or without hydrocephalus
Condition: not provided
History of neurodevelopmental disorder
Fanconi anemia complementation group A
Fanconi anemia
not specified
Malignant tumor of breast
FANCB-related disorder

Criteria Provided
Conflicting Classifications

CA10353003

rs_142959373

12 SubmittersRCV000292661 RCV000375315 RCV000437503 RCV000720996 RCV000990470 RCV001080424 RCV001726070 RCV001269483 RCV003907910

NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)

SNV
Germline

ChrX:14844672

Conflicting classifications of pathogenicity

Fanconi anemia
History of neurodevelopmental disorder
not specified
Condition: not provided
Fanconi anemia complementation group B
FANCB-related disorder

Criteria Provided
Conflicting Classifications

CA10352977

rs_145110602

7 SubmittersRCV000236495 RCV000721015 RCV000503767 RCV001727653 RCV003316313 RCV003930015

NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg)

SNV
Germline

ChrX:14865276

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA10584657

rs_879254329

1 SubmittersRCV000235722

NM_022725.4(FANCF):c.633G>T (p.Gln211His)

SNV
Germline

Chr11:22625178

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Condition: not provided
Fanconi anemia complementation group F

Criteria Provided
Conflicting Classifications

CA5924296

rs_146975768

9 SubmittersRCV000239026 RCV000320511 RCV001358441 RCV001093961

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
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6940690

rs_369294255

12 SubmittersRCV000239030 RCV000580365 RCV000816307 RCV000758882 RCV005429008 RCV001260303

NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter)

SNV
Germline

Chr17:43092932

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-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4

Reviewed By Expert Panel

CA10586643

rs_886038001

9 SubmittersRCV000240974 RCV000637361 RCV000585697 RCV001016055 RCV002518559 RCV005016651

NM_001018115.3(FANCD2):c.1656+14T>A

SNV
Germline

Chr3:10052511

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA2249737

rs_200473919

2 SubmittersRCV000249464 RCV000380953

NM_000135.4(FANCA):c.2015-5C>T

SNV
Germline

Chr16:89771819

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251937

rs_780349960

4 SubmittersRCV000252915 RCV000867005 RCV003316331

NM_000135.4(FANCA):c.1471-12A>G

SNV
Germline

Chr16:89783114

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8252300

rs_9282684

8 SubmittersRCV000249843 RCV000295581 RCV001509534 RCV001516753

NM_000135.4(FANCA):c.-18G>A

SNV
Germline

Chr16:89816633

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA10587256

rs_886038245

3 SubmittersRCV000253915 RCV000367041

NM_000136.3(FANCC):c.996+1G>T

SNV
Germline

Chr9:95125085

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

CA5137571

rs_370510954

10 SubmittersRCV000254963 RCV000458747 RCV000574838 RCV000412116

NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)

SNV
Germline

Chr16:23629786

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia
Hereditary cancer
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588608

rs_886039480

11 SubmittersRCV000255054 RCV000454204 RCV000509375 RCV000552634 RCV003155937

NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)

SNV
Germline

Chr16:89775768

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8251994

rs_139235751

19 SubmittersRCV000255908 RCV001800637 RCV000475267 RCV000989672 RCV003920022

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
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10589677

rs_886040218

9 SubmittersRCV000256907 RCV000536293 RCV000570823 RCV000759536 RCV005355571

NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter)

SNV
Germline

Chr17:43092980

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10589836

rs_398122662

11 SubmittersRCV000256930 RCV000758796 RCV000772054 RCV000539368 RCV003165704 RCV005016660

NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)

SNV
Germline

Chr17:43094606

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
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

Reviewed By Expert Panel

CA10589980

rs_879255498

5 SubmittersRCV000257812 RCV000763007 RCV001019078 RCV001855026

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
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10590891

rs_80358041

7 SubmittersRCV000258497 RCV000774989 RCV002519026 RCV005355578

NM_007294.4(BRCA1):c.4987-5T>C

SNV
Germline

Chr17:43067700

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
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

CA10602584

rs_397509214

8 SubmittersRCV000258194 RCV000496749 RCV000797612 RCV002250609 RCV004796145

NM_007294.4(BRCA1):c.-19-2A>G

SNV
Germline

Chr17:43124117

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA10602608

rs_886040902

3 SubmittersRCV000258491 RCV005355577

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
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6941189

rs_756105620

9 SubmittersRCV000335958 RCV000510067 RCV000530767 RCV001535652 RCV000586599 RCV003995749

NM_032043.3(BRIP1):c.2874A>T (p.Leu958=)

SNV
Germline

Chr17:61685867

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10603311

rs_886041147

4 SubmittersRCV000275673 RCV000563681 RCV001080278 RCV004791384

NM_032043.3(BRIP1):c.878A>G (p.Asn293Ser)

SNV
Germline

Chr17:61808507

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690839

rs_746599076

6 SubmittersRCV000319358 RCV000573698 RCV000636175 RCV005600885

NM_000135.4(FANCA):c.4011-1G>A

SNV
Germline

Chr16:89739290

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8250816

rs_761988162

2 SubmittersRCV000270448 RCV003765581

NM_032043.3(BRIP1):c.1474-7C>A

SNV
Germline

Chr17:61784431

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10603385

rs_886041146

4 SubmittersRCV000400309 RCV000636092 RCV001526178 RCV001706409

NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met)

SNV
Germline

ChrX:14845125

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Inborn genetic diseases
FANCB-related disorder

Criteria Provided
Conflicting Classifications

CA10353018

rs_146157131

6 SubmittersRCV000514485 RCV001087773 RCV002518813 RCV003947831

NM_018062.4(FANCL):c.969G>A (p.Val323=)

SNV
Germline

Chr2:58161573

Conflicting classifications of pathogenicity

Fanconi anemia complementation group L
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA1670368

rs_200819615

2 SubmittersRCV000349182 RCV001450124

NM_001018115.3(FANCD2):c.1134+8T>G

SNV
Germline

Chr3:10043872

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA2249506

rs_373232961

3 SubmittersRCV000283391 RCV001094849 RCV003969988

NM_001018115.3(FANCD2):c.1546-8T>C

SNV
Germline

Chr3:10052379

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2249711

rs_530202330

2 SubmittersRCV000320347 RCV002057813

NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn)

SNV
Germline

Chr3:10073260

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group D2
FANCD2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2250142

rs_56041034

7 SubmittersRCV000383944 RCV000504499 RCV001094917 RCV003950197 RCV003229830

NM_001018115.3(FANCD2):c.4186-13C>T

SNV
Germline

Chr3:10098707

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2250648

rs_755767180

3 SubmittersRCV000324657 RCV002057819

NM_001018115.3(FANCD2):c.2181G>A (p.Pro727=)

SNV
Germline

Chr3:10065406

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
FANCD2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2249999

rs_560600678

5 SubmittersRCV000323209 RCV001094878 RCV003950196 RCV003430873

NM_001018115.3(FANCD2):c.4186-5T>C

SNV
Germline

Chr3:10098715

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA2250649

rs_763801603

2 SubmittersRCV000360717 RCV001094884

NM_001018115.3(FANCD2):c.491+10G>A

SNV
Germline

Chr3:10036349

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2249233

rs_17032279

5 SubmittersRCV000317060 RCV001094770 RCV002225594 RCV001821030

NM_001018115.3(FANCD2):c.1545+9T>C

SNV
Germline

Chr3:10049514

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA2249693

rs_769459614

2 SubmittersRCV000265234 RCV001094781

NM_001018115.3(FANCD2):c.1948-7C>T

SNV
Germline

Chr3:10064349

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2249901

rs_757782326

2 SubmittersRCV000311244 RCV003522960

NM_001018115.3(FANCD2):c.2826G>A (p.Thr942=)

SNV
Germline

Chr3:10074640

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2250196

rs_200118565

2 SubmittersRCV000398928 RCV001404523

NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=)

SNV
Germline

Chr3:10074640

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
not specified

Criteria Provided
Conflicting Classifications

CA2250197

rs_200118565

3 SubmittersRCV000314260 RCV001094798 RCV001821031

NM_001018115.3(FANCD2):c.33G>A (p.Glu11=)

SNV
Germline

Chr3:10028690

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Condition: not provided
not specified
Fanconi anemia
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA2249076

rs_147426418

8 SubmittersRCV000369094 RCV000861289 RCV001821029 RCV001469616 RCV003950194

NM_001018115.3(FANCD2):c.1116C>T (p.Ala372=)

SNV
Germline

Chr3:10043846

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
FANCD2-related disorder
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2249500

rs_370078641

4 SubmittersRCV000323314 RCV003912444 RCV003457677 RCV002057812

NM_001018115.3(FANCD2):c.3351C>T (p.Tyr1117=)

SNV
Germline

Chr3:10087149

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2250367

rs_566518051

2 SubmittersRCV000391990 RCV002057818

NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)

SNV
Germline

Chr6:35455751

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA3771366

rs_145068586

6 SubmittersRCV000467424 RCV001653707 RCV001269487

NM_021922.3(FANCE):c.552A>C (p.Pro184=)

SNV
Germline

Chr6:35456050

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
FANCE-related disorder

Criteria Provided
Conflicting Classifications

CA3771438

rs_138182352

3 SubmittersRCV000868246 RCV003972502

NM_021922.3(FANCE):c.696G>A (p.Glu232=)

SNV
Germline

Chr6:35456194

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
not specified
FANCE-related disorder
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA3771465

rs_147356927

5 SubmittersRCV000862983 RCV001821088 RCV003932471 RCV002256221

NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)

SNV
Germline

Chr6:35458304

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
Fanconi anemia
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA3771571

rs_779336261

5 SubmittersRCV001041144 RCV002255375 RCV003153564

NM_021922.3(FANCE):c.1593G>A (p.Leu531=)

SNV
Germline

Chr6:35466327

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E

Criteria Provided
Conflicting Classifications

CA10621952

rs_886061332

2 SubmittersRCV000335592

NM_021922.3(FANCE):c.216G>T (p.Pro72=)

SNV
Germline

Chr6:35452761

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E

Criteria Provided
Conflicting Classifications

CA10626511

rs_886061328

2 SubmittersRCV000305991

NM_021922.3(FANCE):c.-100C>T

SNV
Germline

Chr6:35452446

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E

Criteria Provided
Conflicting Classifications

CA10626667

rs_374493565

3 SubmittersRCV000393259

NM_004629.2(FANCG):c.957G>A (p.Pro319=)

SNV
Germline

Chr9:35076551

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5039879

rs_145092954

4 SubmittersRCV000401554 RCV001095301 RCV004975490

NM_000136.3(FANCC):c.-155A>C

SNV
Germline

Chr9:95317602

Conflicting classifications of pathogenicity

Fanconi anemia complementation group C
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627706

rs_549658720

4 SubmittersRCV000309313 RCV000503247 RCV000830234

NM_000136.3(FANCC):c.-225C>T

SNV
Germline

Chr9:95317672

Conflicting classifications of pathogenicity

Fanconi anemia complementation group C
Fanconi anemia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10627711

rs_182633348

4 SubmittersRCV000264260 RCV001833482 RCV001574533 RCV001821125

NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe)

SNV
Germline

Chr9:35074169

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Conflicting Classifications

CA5039614

rs_17878854

3 SubmittersRCV000374615 RCV001095313

NM_004629.2(FANCG):c.1689G>C (p.Arg563=)

SNV
Germline

Chr9:35074442

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
Fanconi anemia complementation group G
FANCG-related disorder

Criteria Provided
Conflicting Classifications

CA5039652

rs_138855718

4 SubmittersRCV000281814 RCV004975488 RCV001095314 RCV003957870

NM_000059.4(BRCA2):c.*172G>A

SNV
Germline

Chr13:32398942

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10634119

rs_574944914

2 SubmittersRCV000288738 RCV000382792 RCV002262972

NM_022725.4(FANCF):c.350C>T (p.Pro117Leu)

SNV
Germline

Chr11:22625461

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group F
not specified
FANCF-related disorder

Criteria Provided
Conflicting Classifications

CA5924363

rs_374572943

5 SubmittersRCV000337238 RCV001094016 RCV001820899 RCV003967873

NM_020937.4(FANCM):c.171G>C (p.Leu57Phe)

SNV
Germline

Chr14:45136202

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
FANCM-related disorder
not specified
Hereditary cancer-predisposing syndrome
Spermatogenic failure 28
Premature ovarian failure 15

Criteria Provided
Conflicting Classifications

CA7168711

rs_142007602

10 SubmittersRCV000291828 RCV000767964 RCV004537773 RCV001820925 RCV002256201 RCV003224257

NM_020937.4(FANCM):c.527C>T (p.Thr176Ile)

SNV
Germline

Chr14:45137087

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Spermatogenic failure 28
Condition: not provided
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7168797

rs_77374493

7 SubmittersRCV000503452 RCV000338024 RCV001293001 RCV001706479 RCV004537775

NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys)

SNV
Germline

Chr14:45164518

Conflicting classifications of pathogenicity

Fanconi anemia
Spermatogenic failure 28
Premature ovarian failure 15
Hereditary breast ovarian cancer syndrome
Spermatogenic failure 28
Condition: not provided
not specified
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7169137

rs_202171930

7 SubmittersRCV000269296 RCV000763930 RCV001030474 RCV001292875 RCV001590938 RCV004999298 RCV004537777

NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys)

SNV
Germline

Chr14:45181685

Conflicting classifications of pathogenicity

Fanconi anemia
Spermatogenic failure 28
Premature ovarian failure 15
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA7169707

rs_200360968

8 SubmittersRCV000378941 RCV000765163 RCV001357884 RCV004701404

NM_020937.4(FANCM):c.5108A>G (p.His1703Arg)

SNV
Germline

Chr14:45189130

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7169910

rs_146897650

5 SubmittersRCV000367982 RCV000658691

NM_001113378.2(FANCI):c.3721-15G>A

SNV
Germline

Chr15:89314597

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7723879

rs_552581027

2 SubmittersRCV000341754 RCV001453263

NM_005236.3(ERCC4):c.105C>T (p.Cys35=)

SNV
Germline

Chr16:13920270

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA7910086

rs_762885804

2 SubmittersRCV000285190 RCV002061190

NM_032444.4(SLX4):c.742G>A (p.Glu248Lys)

SNV
Germline

Chr16:3606492

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866772

rs_148547201

6 SubmittersRCV000395367 RCV000503857 RCV000858688 RCV001094351

NM_022725.4(FANCF):c.210C>T (p.Gly70=)

SNV
Germline

Chr11:22625601

Conflicting classifications of pathogenicity

Fanconi anemia complementation group F
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA5924398

rs_769740744

2 SubmittersRCV000370781 RCV002056198

NM_022725.4(FANCF):c.2T>C (p.Met1Thr)

SNV
Germline

Chr11:22625809

Conflicting classifications of pathogenicity

Fanconi anemia complementation group F
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA10638238

rs_745495865

3 SubmittersRCV000272674 RCV002522195

NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)

SNV
Germline

Chr16:89739236

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8250797

rs_145886270

9 SubmittersRCV000299065 RCV001242774 RCV001731595 RCV004021684

NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)

SNV
Germline

Chr16:89739538

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8250852

rs_376523966

6 SubmittersRCV000368836 RCV001094402 RCV001820952 RCV003477891

NM_000135.4(FANCA):c.3514-13G>A

SNV
Germline

Chr16:89745084

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251109

rs_200270574

4 SubmittersRCV000374059 RCV001482237 RCV003237826

NM_000135.4(FANCA):c.1518C>T (p.Leu506=)

SNV
Germline

Chr16:89783055

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8252282

rs_781524409

2 SubmittersRCV000326012 RCV003522958

NM_000135.4(FANCA):c.1209G>A (p.Ala403=)

SNV
Germline

Chr16:89791943

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252481

rs_773318145

5 SubmittersRCV000343238 RCV001820958 RCV001094429 RCV004975450

NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)

SNV
Germline

Chr16:89805294

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA10638691

rs_886052487

3 SubmittersRCV000989673 RCV002521077

NM_000135.4(FANCA):c.386C>T (p.Ala129Val)

SNV
Germline

Chr16:89810969

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8253042

rs_577625130

2 SubmittersRCV000371929 RCV002522902

NM_000135.4(FANCA):c.189+12C>G

SNV
Germline

Chr16:89815865

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8253146

rs_753101174

2 SubmittersRCV000403652

NM_020937.4(FANCM):c.2240A>G (p.His747Arg)

SNV
Germline

Chr14:45173134

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA7169295

rs_181827583

3 SubmittersRCV000280719 RCV001597071 RCV001030476

NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)

SNV
Germline

Chr14:45175613

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
not specified
Spermatogenic failure 28
Hereditary cancer-predisposing syndrome
Spermatogenic failure 28
Premature ovarian failure 15
FANCM-related disorder
Hepatoblastoma

Criteria Provided
Conflicting Classifications

CA7169420

rs_142864437

11 SubmittersRCV000271250 RCV000585067 RCV001820928 RCV001770252 RCV002255362 RCV000763932 RCV004537778 RCV001843509

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
Condition: not provided
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7169843

rs_201803784

5 SubmittersRCV000402989 RCV001030549 RCV002256202 RCV003229827 RCV004544559

NM_001113378.2(FANCI):c.1176A>T (p.Ser392=)

SNV
Germline

Chr15:89276774

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7722940

rs_201871288

3 SubmittersRCV000300610 RCV001094451 RCV002292525

NM_001113378.2(FANCI):c.1311A>G (p.Arg437=)

SNV
Germline

Chr15:89278704

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7722982

rs_772846275

2 SubmittersRCV000305871

NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln)

SNV
Germline

Chr15:89290247

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

CA7723181

rs_151038616

3 SubmittersRCV000277965 RCV001094314

NM_001113378.2(FANCI):c.2646A>G (p.Leu882=)

SNV
Germline

Chr15:89299809

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7723426

rs_199627578

5 SubmittersRCV000309949 RCV001094279 RCV003401330 RCV005434819

NM_001113378.2(FANCI):c.2856T>A (p.Thr952=)

SNV
Germline

Chr15:89300352

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA7723489

rs_368915464

3 SubmittersRCV000311735 RCV001419703 RCV003972351

NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=)

SNV
Germline

Chr15:89305391

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia
Condition: not provided
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA7723643

rs_767103109

4 SubmittersRCV000372074 RCV001429121 RCV003401331 RCV003972352

NM_005236.3(ERCC4):c.840G>A (p.Lys280=)

SNV
Germline

Chr16:13930757

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA10642903

rs_886051659

2 SubmittersRCV000315093 RCV002522811

NM_005236.3(ERCC4):c.1102+13G>T

SNV
Germline

Chr16:13932298

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA7910361

rs_199772721

2 SubmittersRCV000260868 RCV002061191

NM_005236.3(ERCC4):c.1284G>A (p.Ala428=)

SNV
Germline

Chr16:13935216

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
Xeroderma pigmentosum, group F
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7910435

rs_3136151

4 SubmittersRCV000321953 RCV000529282 RCV003422265 RCV001820939

NM_000059.4(BRCA2):c.3415A>C (p.Lys1139Gln)

SNV
Germline

Chr13:32337770

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10643168

rs_747903103

3 SubmittersRCV000293210 RCV000350466 RCV003157506 RCV005090455

NM_000059.4(BRCA2):c.*50A>G

SNV
Germline

Chr13:32398820

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1

Criteria Provided
Conflicting Classifications

CA6941496

rs_761312704

2 SubmittersRCV000322262 RCV000376854

NM_032444.4(SLX4):c.*98A>G

SNV
Germline

Chr16:3582244

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA10643578

rs_551538592

2 SubmittersRCV000398675

NM_032444.4(SLX4):c.4494G>A (p.Leu1498=)

SNV
Germline

Chr16:3589144

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7865622

rs_146532299

7 SubmittersRCV000380238 RCV001094285 RCV001723906 RCV001820944

NM_032444.4(SLX4):c.1740C>T (p.Ser580=)

SNV
Germline

Chr16:3596337

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7866422

rs_200354014

2 SubmittersRCV000283580 RCV002056492

NM_032444.4(SLX4):c.489T>G (p.Gly163=)

SNV
Germline

Chr16:3608476

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866858

rs_201211891

2 SubmittersRCV000350282 RCV001094431

NM_020937.4(FANCM):c.926A>C (p.Glu309Ala)

SNV
Germline

Chr14:45151404

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7168890

rs_143006771

5 SubmittersRCV000353097 RCV001706480 RCV002258875 RCV004544556

NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe)

SNV
Germline

Chr14:45185328

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
not specified
Spermatogenic failure 28
Premature ovarian failure 15
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7169808

rs_139536545

8 SubmittersRCV000347988 RCV001786361 RCV001820930 RCV002487387 RCV004544558

NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)

SNV
Germline

Chr16:89738667

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8250581

rs_142784426

6 SubmittersRCV000342460 RCV001094242 RCV003477889 RCV004975445

NM_000135.4(FANCA):c.3935-6T>C

SNV
Germline

Chr16:89739559

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
not specified
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8250856

rs_368376237

7 SubmittersRCV000276761 RCV001094403 RCV001508799 RCV001820953 RCV003950093

NM_000135.4(FANCA):c.3138C>T (p.His1046=)

SNV
Germline

Chr16:89749831

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251322

rs_150884376

7 SubmittersRCV001094409 RCV000398509 RCV003422277 RCV004975447

NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)

SNV
Germline

Chr16:89769946

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251735

rs_762439008

5 SubmittersRCV000350181 RCV000765328

NM_000135.4(FANCA):c.2316+9C>T

SNV
Germline

Chr16:89770157

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

CA10644645

rs_776301232

3 SubmittersRCV000388326 RCV001458727 RCV003151027

NM_000135.4(FANCA):c.1990A>G (p.Met664Val)

SNV
Germline

Chr16:89773295

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251962

rs_748579719

3 SubmittersRCV000348439 RCV001094415

NM_000135.4(FANCA):c.1901-9T>G

SNV
Germline

Chr16:89773393

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA10644646

rs_886052486

2 SubmittersRCV000305138 RCV002522899

NM_000135.4(FANCA):c.1007-7C>G

SNV
Germline

Chr16:89792554

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8252565

rs_111271660

5 SubmittersRCV000302983 RCV001094443 RCV003912331

NM_000135.4(FANCA):c.793-9T>C

SNV
Germline

Chr16:89799647

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8252774

rs_757500718

6 SubmittersRCV000363325 RCV001094265 RCV000501039 RCV003477893

NM_000135.4(FANCA):c.284-9G>C

SNV
Germline

Chr16:89811080

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA10644649

rs_367672895

2 SubmittersRCV000341755 RCV003635909

NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)

SNV
Germline

Chr16:89816557

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8253263

rs_376307136

4 SubmittersRCV000306986 RCV003477894

NM_020937.4(FANCM):c.1576C>G (p.Leu526Val)

SNV
Germline

Chr14:45159275

Conflicting classifications of pathogenicity

Fanconi anemia
Spermatogenic failure 28
Premature ovarian failure 15
Condition: not provided
Spermatogenic failure 28
Hereditary cancer-predisposing syndrome
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7169086

rs_144215747

10 SubmittersRCV000383479 RCV000763929 RCV000484209 RCV001292951 RCV002255361 RCV004537776

NM_020937.4(FANCM):c.2160+10A>G

SNV
Germline

Chr14:45170756

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA10645358

rs_767254996

2 SubmittersRCV000348681

NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)

SNV
Germline

ChrX:14850507

Conflicting classifications of pathogenicity

Fanconi anemia complementation group B
Fanconi anemia
VACTERL association, X-linked, with or without hydrocephalus
not specified
Inborn genetic diseases
Condition: not provided
Fanconi anemia complementation group B
VACTERL association, X-linked, with or without hydrocephalus

Criteria Provided
Conflicting Classifications

CA10353043

rs_199510538

10 SubmittersRCV000331306 RCV000524700 RCV000388194 RCV000500090 RCV002392931 RCV004713874 RCV002488832

NM_001018113.3(FANCB):c.952-13C>T

SNV
Germline

ChrX:14859347

Conflicting classifications of pathogenicity

VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia complementation group B
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA10646016

rs_1057515807

3 SubmittersRCV000271181 RCV000325870 RCV002058826

NM_001113378.2(FANCI):c.976-13A>T

SNV
Germline

Chr15:89274155

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7722895

rs_145864790

4 SubmittersRCV001523326 RCV000403770 RCV004808682

NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly)

SNV
Germline

Chr15:89274303

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA7722914

rs_149008055

3 SubmittersRCV000294568 RCV001094369 RCV003920334

NM_001113378.2(FANCI):c.1491A>G (p.Gln497=)

SNV
Germline

Chr15:89281279

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
not specified
Condition: not provided
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA7723031

rs_145349375

7 SubmittersRCV000325551 RCV001094275 RCV001820936 RCV003409493 RCV003940239

NM_001113378.2(FANCI):c.2169+12G>A

SNV
Germline

Chr15:89292876

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA10646673

rs_886051512

2 SubmittersRCV000284986 RCV003522957

NM_005236.3(ERCC4):c.2199C>T (p.Ile733=)

SNV
Germline

Chr16:13947795

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA7910701

rs_372425414

2 SubmittersRCV000407678 RCV002522813

NM_032444.4(SLX4):c.3912C>T (p.Val1304=)

SNV
Germline

Chr16:3589726

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7865791

rs_140254478

4 SubmittersRCV000269180 RCV001310313 RCV001094382

NM_001113378.2(FANCI):c.288+10C>T

SNV
Germline

Chr15:89260853

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA7722552

rs_370505986

3 SubmittersRCV000321878 RCV001514198 RCV003920333

NM_032444.4(SLX4):c.2991G>A (p.Pro997=)

SNV
Germline

Chr16:3590647

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7866024

rs_770736311

2 SubmittersRCV000294137 RCV002056490

NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter)

SNV
Germline

Chr15:89268492

Pathogenic/Likely pathogenic

Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA7722786

rs_760412752

3 SubmittersRCV002509364

NM_001113378.2(FANCI):c.1113-10G>C

SNV
Germline

Chr15:89276701

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7722931

rs_756650711

2 SubmittersRCV000335630 RCV001465264

NM_032444.4(SLX4):c.2235C>T (p.Thr745=)

SNV
Germline

Chr16:3592791

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866227

rs_75184268

4 SubmittersRCV000317859 RCV001820947 RCV003422267 RCV001094470

NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=)

SNV
Germline

Chr15:89305159

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

CA7723593

rs_34462132

3 SubmittersRCV000317528 RCV003237820 RCV001094318

NM_032444.4(SLX4):c.1941C>T (p.Pro647=)

SNV
Germline

Chr16:3595677

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7866357

rs_540288743

2 SubmittersRCV000333188 RCV002056491

NM_032444.4(SLX4):c.1911G>T (p.Ser637=)

SNV
Germline

Chr16:3596166

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7866382

rs_200013924

4 SubmittersRCV000380894 RCV001094342 RCV005256596

NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=)

SNV
Germline

Chr15:89312957

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7723842

rs_185771112

3 SubmittersRCV000286695 RCV001513101

NM_005236.3(ERCC4):c.2292C>T (p.Ser764=)

SNV
Germline

Chr16:13947888

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
Xeroderma pigmentosum, group F
not specified
Fanconi anemia complementation group Q
XFE progeroid syndrome
Xeroderma pigmentosum, group F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7910719

rs_139406689

5 SubmittersRCV000354867 RCV000863529 RCV001820940 RCV005016696 RCV005621935

NM_032444.4(SLX4):c.4347G>A (p.Leu1449=)

SNV
Germline

Chr16:3589291

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7865678

rs_373300793

2 SubmittersRCV000278754 RCV001094286

NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)

SNV
Germline

Chr16:3590663

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
not specified
Condition: not provided
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7866027

rs_139287784

10 SubmittersRCV000351349 RCV000679857 RCV001820946 RCV002223834 RCV003391153

NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)

SNV
Germline

Chr16:3590957

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7866101

rs_145137472

12 SubmittersRCV000362095 RCV001027802 RCV001194828 RCV000762181

NM_032444.4(SLX4):c.2006G>A (p.Arg669His)

SNV
Germline

Chr16:3595612

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866337

rs_200807331

5 SubmittersRCV000500030 RCV003409497 RCV000386591 RCV001094239

NM_032444.4(SLX4):c.1110T>C (p.Ala370=)

SNV
Germline

Chr16:3601032

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA10648367

rs_886051981

2 SubmittersRCV000320733 RCV005090475

NM_000135.4(FANCA):c.3999C>T (p.Phe1333=)

SNV
Germline

Chr16:89739489

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8250843

rs_774576283

2 SubmittersRCV000399971 RCV001424627

NM_000135.4(FANCA):c.3348+7G>T

SNV
Germline

Chr16:89748652

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8251230

rs_185527578

8 SubmittersRCV000394021 RCV000989671 RCV000858420 RCV003940263 RCV001820954

NM_000135.4(FANCA):c.2958C>T (p.Asn986=)

SNV
Germline

Chr16:89758600

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251423

rs_368953287

5 SubmittersRCV000272707 RCV001094412 RCV002480144

NM_000135.4(FANCA):c.1901-3C>A

SNV
Germline

Chr16:89773387

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251972

rs_17226526

6 SubmittersRCV000259319 RCV001094419

NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)

SNV
Germline

Chr16:89778982

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

CA8252124

rs_529199293

5 SubmittersRCV000329509 RCV001512541 RCV001820957

NM_000135.4(FANCA):c.688G>A (p.Val230Ile)

SNV
Germline

Chr16:89805301

Conflicting classifications of pathogenicity

Fanconi anemia
FANCA-related disorder
Fanconi anemia complementation group A
not specified

Criteria Provided
Conflicting Classifications

CA8252857

rs_144560850

7 SubmittersRCV000274943 RCV003922359 RCV001094307 RCV001820959

NM_000135.4(FANCA):c.577C>G (p.Leu193Val)

SNV
Germline

Chr16:89808313

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8252926

rs_141861208

7 SubmittersRCV000280680 RCV000660417 RCV001753780

NM_000135.4(FANCA):c.3825A>G (p.Ser1275=)

SNV
Germline

Chr16:89740807

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10649308

rs_886052480

3 SubmittersRCV000327839 RCV002061214 RCV004975446

NM_000135.4(FANCA):c.3766-14G>A

SNV
Germline

Chr16:89740880

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8250969

rs_34476949

2 SubmittersRCV000283492 RCV002056543

NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)

SNV
Germline

Chr16:89745034

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8251098

rs_147672303

11 SubmittersRCV000287104 RCV000484383 RCV001094249 RCV003912330

NM_000135.4(FANCA):c.3531G>A (p.Leu1177=)

SNV
Germline

Chr16:89745054

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA10649310

rs_886052482

2 SubmittersRCV000335715 RCV002056544

NM_000135.4(FANCA):c.2778+10C>T

SNV
Germline

Chr16:89764880

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251569

rs_371786839

3 SubmittersRCV000324259 RCV001256603 RCV001094434

NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr)

SNV
Germline

Chr16:89767172

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Inborn genetic diseases
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649312

rs_886052484

6 SubmittersRCV000375449 RCV004975449 RCV002522898 RCV004791410

NM_000135.4(FANCA):c.1777-15C>G

SNV
Germline

Chr16:89778865

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8252077

rs_371919426

3 SubmittersRCV000265014 RCV002522900

NM_000135.4(FANCA):c.1567-11C>A

SNV
Germline

Chr16:89782929

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8252246

rs_34353618

2 SubmittersRCV000270989 RCV002056545

NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)

SNV
Germline

Chr16:89810999

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8253054

rs_751309143

6 SubmittersRCV000286700 RCV002522903 RCV001094364

NM_032043.3(BRIP1):c.*3489T>C

SNV
Germline

Chr17:61679807

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10650599

rs_140891191

2 SubmittersRCV000284351 RCV003409511

NM_032043.3(BRIP1):c.*128A>G

SNV
Germline

Chr17:61683168

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10650614

rs_150444311

2 SubmittersRCV000280638 RCV002272211

NM_032043.3(BRIP1):c.2829C>A (p.Val943=)

SNV
Germline

Chr17:61685912

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10650615

rs_767164240

7 SubmittersRCV000260325 RCV000636193 RCV000604455 RCV000572116 RCV005365248 RCV004786667

NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)

SNV
Germline

Chr9:95101756

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Condition: not provided
FANCC-related disorder
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041334

rs_867319477

6 SubmittersRCV000409524 RCV000657699 RCV003897826 RCV001059596

NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter)

SNV
Unknown

Chr9:95101785

Likely pathogenic

Fanconi anemia complementation group C

No Assertion Criteria Provided

CA16041335

rs_1057516455

1 SubmittersRCV000411700

NM_000136.3(FANCC):c.1533+2T>C

SNV
Unknown

Chr9:95107064

Likely pathogenic

Fanconi anemia complementation group C

No Assertion Criteria Provided

CA16041336

rs_1057517170

1 SubmittersRCV000410650

NM_000136.3(FANCC):c.1533+1G>C

SNV
Germline

Chr9:95107065

Conflicting classifications of pathogenicity

Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA5137319

rs_753885687

8 SubmittersRCV000409707 RCV002392933 RCV001380007

NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)

SNV
Germline

Chr9:95107082

Pathogenic

Fanconi anemia complementation group C
Fanconi anemia

Criteria Provided
Single Submitter

CA16041337

rs_1057516488

2 SubmittersRCV000409398 RCV001850946

NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter)

SNV
Unknown

Chr9:95107101

Likely pathogenic

Fanconi anemia complementation group C

No Assertion Criteria Provided

CA16041338

rs_1057516963

1 SubmittersRCV000409084

NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)

SNV
Germline

Chr9:95107266

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041339

rs_1057516298

6 SubmittersRCV000409733 RCV000657572 RCV001388954 RCV002379264

NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)

SNV
Germline

Chr9:95111483

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041340

rs_944083227

5 SubmittersRCV000411906 RCV000657680 RCV002379265 RCV003635911

NM_000136.3(FANCC):c.686+1G>T

SNV
Germline

Chr9:95149922

Likely pathogenic

Fanconi anemia complementation group C
Fanconi anemia

Criteria Provided
Single Submitter

CA16041345

rs_1057517125

2 SubmittersRCV000409465 RCV002523870

NM_000136.3(FANCC):c.457-1G>T

SNV
Germline

Chr9:95171144

Likely pathogenic

Fanconi anemia complementation group C
Fanconi anemia

Criteria Provided
Single Submitter

CA16041347

rs_1057516917

2 SubmittersRCV000410360 RCV001377492

NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)

SNV
Germline

Chr9:95240655

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041349

rs_1057516291

5 SubmittersRCV000412313 RCV000462409 RCV000574200

NM_000136.3(FANCC):c.307C>T (p.Gln103Ter)

SNV
Unknown

Chr9:95240687

Likely pathogenic

Fanconi anemia complementation group C

No Assertion Criteria Provided

CA16041350

rs_1057516384

1 SubmittersRCV000412276

NM_000136.3(FANCC):c.251-2A>C

SNV
Germline

Chr9:95240745

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041351

rs_1057517219

3 SubmittersRCV000410988 RCV002436231 RCV003522962

NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)

SNV
Germline

Chr16:89799620

Pathogenic

Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041803

rs_372163487

8 SubmittersRCV000410151 RCV001509537 RCV001223227

NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)

SNV
Germline

Chr16:89811060

Pathogenic

Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041804

rs_1057516430

5 SubmittersRCV000409455 RCV003126717 RCV001865263

NM_000135.4(FANCA):c.154C>T (p.Arg52Ter)

SNV
Germline

Chr16:89815912

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8253157

rs_773159223

6 SubmittersRCV000409456 RCV001245476

NM_024675.4(PALB2):c.3202-1G>A

SNV
Germline

Chr16:23608013

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA16042147

rs_515726111

10 SubmittersRCV000409659 RCV001019201 RCV003493565 RCV002481267

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 cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related disorder
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA16042163

rs_758780152

12 SubmittersRCV000410033 RCV000496748 RCV001024052 RCV000538853 RCV001731667 RCV004554765 RCV005398498

NM_058216.3(RAD51C):c.77A>T (p.Lys26Met)

SNV
Germline

Chr17:58692720

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8677141

rs_746026526

7 SubmittersRCV000409148 RCV000410630 RCV000566177 RCV000780669

NM_058216.3(RAD51C):c.145+2T>G

SNV
Germline

Chr17:58692790

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042171

rs_1057517641

5 SubmittersRCV000410256 RCV000411364 RCV002392935

NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)

SNV
Germline

Chr17:61744578

Pathogenic

Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16042174

rs_1057517643

7 SubmittersRCV000411722 RCV001267955 RCV002418233 RCV000636132 RCV005430348 RCV003316518

NM_032043.3(BRIP1):c.1140+11G>A

SNV
Germline

Chr17:61801242

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690798

rs_369153270

7 SubmittersRCV000410194 RCV000423409 RCV000579834 RCV002058861 RCV005090659 RCV005430351

NM_002875.5(RAD51):c.877G>A (p.Ala293Thr)

SNV
Germline

Chr15:40729955

Pathogenic/Likely pathogenic

Fanconi anemia complementation group R
Inborn genetic diseases
Condition: not provided
RAD51-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16044167

rs_1057519413

5 SubmittersRCV000412566 RCV000622620 RCV001194792 RCV001731668

NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu)

SNV
Germline

Chr1:11676926

Pathogenic

Fanconi anemia complementation group V
Condition: not provided

No Assertion Criteria Provided

CA16042235

rs_1057517674

2 SubmittersRCV000412563 RCV001194790

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
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10595936

rs_1057519249

6 SubmittersRCV000415656 RCV001343171 RCV002436241 RCV005355707 RCV004999372

NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)

SNV
Germline

Chr16:89758699

Conflicting classifications of pathogenicity

not specified
FANCA-related disorder
Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8251450

rs_149112292

16 SubmittersRCV001821151 RCV003902464 RCV001120358 RCV000431238 RCV001080884

NM_001018115.3(FANCD2):c.990-1G>A

SNV
Germline/somatic

Chr3:10043483

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group D2
Acute myeloid leukemia
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA2249459

rs_112832879

6 SubmittersRCV000421802 RCV001535895 RCV003234557 RCV002256229

NM_000136.3(FANCC):c.897-3C>T

SNV
Germline

Chr9:95125188

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA16605745

rs_1057521714

4 SubmittersRCV000807447 RCV001703825 RCV002446690 RCV005044641

NM_000136.3(FANCC):c.896+6C>T

SNV
Germline

Chr9:95126523

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137605

rs_199525333

3 SubmittersRCV000420740 RCV000545626 RCV003477912

NM_000136.3(FANCC):c.*14C>T

SNV
Germline

Chr9:95101693

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA5137279

rs_760413505

2 SubmittersRCV000430396 RCV005365289

NM_000136.3(FANCC):c.1071A>G (p.Gln357=)

SNV
Germline

Chr9:95117316

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA16605898

rs_1057522128

3 SubmittersRCV000431526 RCV002418291 RCV001273994

NM_000136.3(FANCC):c.*7C>T

SNV
Germline

Chr9:95101700

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
FANCC-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137282

rs_372511678

6 SubmittersRCV000433684 RCV001828402 RCV003950351 RCV005001050

NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser)

SNV
Germline

Chr16:89783084

Likely pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16607150

rs_1057521855

2 SubmittersRCV000432541 RCV004701475

NM_024675.4(PALB2):c.66A>G (p.Ala22=)

SNV
Germline

Chr16:23638112

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16607223

rs_1057520982

6 SubmittersRCV000923663 RCV000569467 RCV001119846 RCV001456862

NM_058216.3(RAD51C):c.404+16C>G

SNV
Germline

Chr17:58695205

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA16607385

rs_376465837

4 SubmittersRCV000444194 RCV000580156 RCV002064981

NM_032043.3(BRIP1):c.3093T>C (p.Ser1031=)

SNV
Germline

Chr17:61683953

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16607407

rs_937490699

5 SubmittersRCV001125759 RCV000893813 RCV001018562 RCV001696774 RCV004791462

NM_032043.3(BRIP1):c.2257+5C>T

SNV
Germline

Chr17:61744427

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16607409

rs_1057523068

4 SubmittersRCV000439254 RCV000552085 RCV002446721 RCV000989997

NM_007294.4(BRCA1):c.1152G>A (p.Glu384=)

SNV
Germline

Chr17:43094379

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16607673

rs_1057523704

4 SubmittersRCV000441112 RCV001404803 RCV005355772 RCV002348238

NM_058216.3(RAD51C):c.706-13C>G

SNV
Germline

Chr17:58709846

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Condition: not provided
Breast and/or ovarian cancer
Fanconi anemia complementation group O
not specified
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677320

rs_747406535

9 SubmittersRCV000579663 RCV000662580 RCV001703562 RCV003150206 RCV002061639 RCV002268047 RCV003316532

NM_024675.4(PALB2):c.1611G>A (p.Ser537=)

SNV
Germline

Chr16:23634935

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
not specified

Criteria Provided
Conflicting Classifications

CA7963693

rs_730881874

10 SubmittersRCV000989569 RCV001121721 RCV000572139 RCV001703482 RCV005355718 RCV005407090

NM_058216.3(RAD51C):c.404+13G>A

SNV
Germline

Chr17:58695202

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677210

rs_547506164

4 SubmittersRCV000420122 RCV000771563 RCV001122909 RCV001128607

NM_058216.3(RAD51C):c.966-12T>C

SNV
Germline

Chr17:58732472

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Familial ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA16608562

rs_1057522948

6 SubmittersRCV000429108 RCV000579427 RCV001861599 RCV005600909 RCV005421772

NM_032043.3(BRIP1):c.2493-4C>G

SNV
Germline

Chr17:61693516

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA16608567

rs_1057521675

3 SubmittersRCV000427580 RCV001015694 RCV002062630

NM_032043.3(BRIP1):c.408A>C (p.Ala136=)

SNV
Germline

Chr17:61849228

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16608582

rs_876660891

7 SubmittersRCV000435495 RCV000476947 RCV000571585 RCV000990036

NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly)

SNV
Germline

Chr16:23629681

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963569

rs_745747228

4 SubmittersRCV000454362 RCV000764048 RCV001861653

NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)

SNV
Germline

Chr16:23638072

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA16609607

rs_757369748

7 SubmittersRCV000454301 RCV001380280 RCV000657579 RCV000763378

NM_018062.4(FANCL):c.273+7A>C

SNV
Germline

Chr2:58226721

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group L

Criteria Provided
Conflicting Classifications

CA1670721

rs_745366278

2 SubmittersRCV000466009 RCV001137462

NM_001018115.3(FANCD2):c.2418T>G (p.Pro806=)

SNV
Germline

Chr3:10067241

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2250078

rs_61751577

3 SubmittersRCV000470426 RCV001148313 RCV003431027

NM_018062.4(FANCL):c.534A>G (p.Thr178=)

SNV
Germline

Chr2:58198600

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group L
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1670587

rs_151181785

5 SubmittersRCV000473068 RCV001142206 RCV001821349 RCV002469161

NM_001018115.3(FANCD2):c.310A>G (p.Ile104Val)

SNV
Germline

Chr3:10034731

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2249177

rs_774299094

3 SubmittersRCV000473368 RCV000764452 RCV004619297

NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg)

SNV
Germline

Chr3:10043860

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
not specified

Criteria Provided
Conflicting Classifications

CA2249505

rs_141141752

3 SubmittersRCV000459636 RCV001293002 RCV001821327

NM_021922.3(FANCE):c.397C>T (p.Leu133Phe)

SNV
Germline

Chr6:35455895

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
not specified

Criteria Provided
Conflicting Classifications

CA3771401

rs_759124595

4 SubmittersRCV000458900 RCV005239026

NM_021922.3(FANCE):c.1310T>C (p.Met437Thr)

SNV
Germline

Chr6:35459754

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
Fanconi anemia
not specified
FANCE-related disorder

Criteria Provided
Conflicting Classifications

CA3771662

rs_142903218

5 SubmittersRCV000474134 RCV002256300 RCV001821341 RCV004751551

NM_021922.3(FANCE):c.1116C>T (p.Ile372=)

SNV
Germline

Chr6:35459333

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA3771611

rs_143234424

4 SubmittersRCV000462289 RCV001821342 RCV002256301

NM_005431.2(XRCC2):c.662T>C (p.Ile221Thr)

SNV
Germline

Chr7:152648823

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group U

Criteria Provided
Conflicting Classifications

CA4582313

rs_3218537

4 SubmittersRCV000470785 RCV001025478 RCV000791389 RCV005055112

NM_004629.2(FANCG):c.777+1G>A

SNV
Germline

Chr9:35076970

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA16612725

rs_1060501862

1 SubmittersRCV000461878

NM_000136.3(FANCC):c.897-10C>T

SNV
Germline

Chr9:95125195

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group C
not specified

Criteria Provided
Conflicting Classifications

CA16612893

rs_955495354

3 SubmittersRCV001502246 RCV005049564 RCV005418146

NM_022725.4(FANCF):c.2T>G (p.Met1Arg)

SNV
Germline

Chr11:22625809

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group F

Criteria Provided
Multiple Submitters
No Conflicts

CA5924458

rs_745495865

2 SubmittersRCV000462200 RCV005049558

NM_020937.4(FANCM):c.523T>C (p.Ser175Pro)

SNV
Germline

Chr14:45137083

Conflicting classifications of pathogenicity

Fanconi anemia
Spermatogenic failure 28
Condition: not provided
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7168795

rs_779858649

4 SubmittersRCV000474146 RCV001292816 RCV002475907 RCV004541480

NM_020937.4(FANCM):c.491A>C (p.His164Pro)

SNV
Germline

Chr14:45136522

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7168773

rs_144278051

5 SubmittersRCV000463663 RCV001555524 RCV002256303 RCV004541481

NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)

SNV
Germline

Chr14:45189123

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided
Spermatogenic failure 28
Premature ovarian failure 15
Fanconi anemia complementation group A
Familial cancer of breast
Male infertility with spermatogenesis disorder
FANCM-related disorder
Spermatogenic failure 28
Premature ovarian failure 15

Criteria Provided
Multiple Submitters
No Conflicts

CA7169906

rs_147021911

15 SubmittersRCV000456962 RCV000585292 RCV000677276 RCV000678209 RCV000989212 RCV001250424 RCV003991578 RCV004737537 RCV005010382

NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala)

SNV
Germline

Chr15:89260713

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

CA7722518

rs_149223439

4 SubmittersRCV000470517 RCV003151064 RCV001115869

NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)

SNV
Germline

Chr14:45176050

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Premature ovarian failure 15
FANCM-related disorder
Aplastic anemia

Criteria Provided
Conflicting Classifications

CA7169492

rs_139382267

10 SubmittersRCV000475344 RCV000989208 RCV001821346 RCV002257746 RCV001569551 RCV003316605 RCV004535465 RCV003447530

NM_001113378.2(FANCI):c.2406T>C (p.Asp802=)

SNV
Germline

Chr15:89293947

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

CA7723373

rs_147934193

3 SubmittersRCV000461896 RCV001121008

NM_001113378.2(FANCI):c.528A>G (p.Gln176=)

SNV
Germline

Chr15:89263443

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
Condition: not provided
not specified
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA7722663

rs_145939211

7 SubmittersRCV000459556 RCV001117325 RCV003409624 RCV001821271 RCV004754436

NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)

SNV
Germline

Chr15:89281249

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7723029

rs_769248873

7 SubmittersRCV000460384 RCV000502163 RCV003235224

NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser)

SNV
Germline

Chr15:89294965

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
Inborn genetic diseases
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

CA16614575

rs_933284199

7 SubmittersRCV000463193 RCV001821273 RCV003237865 RCV004022682 RCV001121010

NM_005236.3(ERCC4):c.241G>A (p.Val81Ile)

SNV
Germline

Chr16:13922064

Conflicting classifications of pathogenicity

Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7910134

rs_55761944

3 SubmittersRCV000473210 RCV002496767 RCV004822054

NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)

SNV
Germline

Chr15:89291685

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
Condition: not provided
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA7723227

rs_138026584

6 SubmittersRCV000466767 RCV001119038 RCV003401499 RCV003902684

NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile)

SNV
Germline

Chr16:23621440

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA7963444

rs_761032954

12 SubmittersRCV000575045 RCV000479556 RCV000475841 RCV005018786

NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala)

SNV
Germline

Chr16:23635009

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA16614855

rs_1060502741

7 SubmittersRCV000474363 RCV000575626 RCV000587874 RCV002480416 RCV001030235

NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)

SNV
Germline

Chr16:23626254

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614856

rs_995629797

9 SubmittersRCV000459119 RCV000568217 RCV002489062 RCV000657580

NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg)

SNV
Germline

Chr16:23635163

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963711

rs_768482110

8 SubmittersRCV000470251 RCV000781681 RCV000568070 RCV000679760 RCV002481444

NM_024675.4(PALB2):c.1217C>T (p.Ala406Val)

SNV
Germline

Chr16:23635329

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA16614898

rs_1060502757

8 SubmittersRCV000463216 RCV000569051 RCV001561387 RCV002481447

NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe)

SNV
Germline

Chr16:3589377

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Condition: not provided
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7865700

rs_141567438

7 SubmittersRCV001194853 RCV000474038 RCV000996183 RCV001336769

NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)

SNV
Germline

Chr16:3591279

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Fanconi anemia
Fanconi anemia complementation group P
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7866169

rs_140600202

11 SubmittersRCV000502866 RCV000464063 RCV001081719 RCV001121832 RCV003912802

NM_032444.4(SLX4):c.73G>A (p.Gly25Arg)

SNV
Germline

Chr16:3608892

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866959

rs_201533738

4 SubmittersRCV000472372 RCV001821331 RCV005256613

NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp)

SNV
Germline

Chr16:3590460

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group P
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7865977

rs_144273492

5 SubmittersRCV000461671 RCV000504053 RCV001116863 RCV003418213

NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp)

SNV
Germline

Chr16:3594510

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
not specified
Condition: not provided
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7866291

rs_73505420

8 SubmittersRCV000468690 RCV002489115 RCV001821332 RCV003441891 RCV003915301

NM_032444.4(SLX4):c.973A>T (p.Thr325Ser)

SNV
Germline

Chr16:3601169

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7866665

rs_181942292

2 SubmittersRCV000461785 RCV004965473

NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=)

SNV
Germline

Chr15:89312912

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
not specified
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA7723827

rs_116380142

5 SubmittersRCV000463423 RCV001116207 RCV001821350 RCV003960078

NM_001113378.2(FANCI):c.3780T>A (p.Tyr1260Ter)

SNV
Germline

Chr15:89314671

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA16614937

rs_1060501900

1 SubmittersRCV000467025

NM_032444.4(SLX4):c.467C>A (p.Thr156Lys)

SNV
Germline

Chr16:3608498

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866863

rs_144614070

6 SubmittersRCV000468758 RCV000989505 RCV000501642 RCV005010354

NM_032444.4(SLX4):c.86G>A (p.Arg29His)

SNV
Germline

Chr16:3608879

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866955

rs_149117119

5 SubmittersRCV000473920 RCV001118600

NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)

SNV
Germline

Chr16:89738943

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8250692

rs_149851163

8 SubmittersRCV000459562 RCV000779200 RCV001557545

NM_000135.4(FANCA):c.4261-8T>G

SNV
Germline

Chr16:89738716

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8250601

rs_372268907

5 SubmittersRCV000470927 RCV001821344 RCV002261091

NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)

SNV
Germline

Chr16:89746667

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8251153

rs_143671872

16 SubmittersRCV000499924 RCV000474793 RCV001579530 RCV000765324 RCV003418176

NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)

SNV
Germline

Chr16:89749812

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
not specified

Criteria Provided
Conflicting Classifications

CA8251319

rs_376103033

9 SubmittersRCV000472481 RCV001509531 RCV001276510 RCV001821268

NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter)

SNV
Germline

Chr16:89773304

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA16615029

rs_1060501878

1 SubmittersRCV000475930

NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln)

SNV
Germline

Chr16:89778947

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8252114

rs_778093769

4 SubmittersRCV000476740 RCV000765329 RCV003418177

NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)

SNV
Germline

Chr16:89749786

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251308

rs_1800346

10 SubmittersRCV000458962 RCV001821345 RCV001764459 RCV001276506 RCV003970325 RCV004975545

NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)

SNV
Germline

Chr16:89810978

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8253047

rs_139160837

11 SubmittersRCV000466659 RCV000503748 RCV001118714 RCV001172102

NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)

SNV
Germline

Chr16:89761950

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA8251482

rs_755546887

9 SubmittersRCV000466964 RCV000669024

NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)

SNV
Germline

Chr16:89769909

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251729

rs_201152989

3 SubmittersRCV000458018 RCV001274572

NM_000135.4(FANCA):c.1304G>A (p.Arg435His)

SNV
Germline

Chr16:89791458

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16615049

rs_1060501879

5 SubmittersRCV000464366 RCV001256354 RCV004797814

NM_000135.4(FANCA):c.685G>A (p.Asp229Asn)

SNV
Germline

Chr16:89805304

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252858

rs_148419748

6 SubmittersRCV000468822 RCV003477955 RCV002496761

NM_000135.4(FANCA):c.377C>T (p.Thr126Met)

SNV
Germline

Chr16:89810978

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Condition: not provided
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8253048

rs_139160837

8 SubmittersRCV000464585 RCV001276567 RCV002526413 RCV002264943 RCV003902647

NM_024675.4(PALB2):c.2328C>A (p.Phe776Leu)

SNV
Germline

Chr16:23629826

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA16615088

rs_45508997

4 SubmittersRCV000469475 RCV004943901 RCV005398628

NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)

SNV
Germline

Chr16:23630458

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963668

rs_746582620

10 SubmittersRCV000461240 RCV000586825 RCV000563652 RCV002481446

NM_024675.4(PALB2):c.206A>T (p.His69Leu)

SNV
Germline

Chr16:23637855

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA16615126

rs_749443090

8 SubmittersRCV000476673 RCV000485056 RCV000569594 RCV005018787

NM_024675.4(PALB2):c.127A>G (p.Lys43Glu)

SNV
Germline

Chr16:23637934

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963836

rs_765125459

11 SubmittersRCV000474623 RCV000580520 RCV000485071 RCV002481445

NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile)

SNV
Germline

Chr16:3590882

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7866078

rs_145533919

5 SubmittersRCV000471089 RCV002221540 RCV001821256 RCV002525559

NM_032444.4(SLX4):c.2047G>A (p.Ala683Thr)

SNV
Germline

Chr16:3594566

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
SLX4-related disorder
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866305

rs_115866745

6 SubmittersRCV000477483 RCV001821336 RCV002221543 RCV004745411 RCV005230423

NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)

SNV
Germline

Chr16:3597690

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group P
Fanconi anemia
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA7866534

rs_149126845

12 SubmittersRCV000519850 RCV000764064 RCV001088147 RCV001194850 RCV003492056

NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)

SNV
Germline

Chr16:23629779

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16615240

rs_1060502748

5 SubmittersRCV000457054 RCV001813781 RCV004649161

NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn)

SNV
Germline

Chr16:23635054

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA16615265

rs_75023630

4 SubmittersRCV000466463 RCV000572623 RCV002496776

NM_024675.4(PALB2):c.510A>C (p.Arg170Ser)

SNV
Germline

Chr16:23636036

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615302

rs_1060502796

5 SubmittersRCV000474642 RCV000571001 RCV001294231 RCV003477982

NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)

SNV
Germline

Chr16:89738666

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8250579

rs_74977201

6 SubmittersRCV000463871 RCV001292767 RCV002475905 RCV003960075 RCV002525658

NM_032444.4(SLX4):c.3189C>T (p.Gly1063=)

SNV
Germline

Chr16:3590449

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Condition: not provided
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7865970

rs_200742809

7 SubmittersRCV000462566 RCV001116862 RCV003418214 RCV003932743

NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)

SNV
Germline

Chr16:89738917

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Microcephaly

Criteria Provided
Conflicting Classifications

CA8250683

rs_139478274

5 SubmittersRCV000458944 RCV000765320 RCV001252734

NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)

SNV
Germline

Chr16:89742867

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251016

rs_545742908

3 SubmittersRCV000463994 RCV002496760

NM_007294.4(BRCA1):c.*528G>C

SNV
Germline

Chr17:43045150

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA16615336

rs_1060504556

2 SubmittersRCV000458128 RCV005355896

NM_000135.4(FANCA):c.87G>A (p.Arg29=)

SNV
Germline

Chr16:89815979

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8253181

rs_760787108

4 SubmittersRCV000457883 RCV001120658 RCV005426034 RCV004975543

NM_000135.4(FANCA):c.23A>G (p.Asn8Ser)

SNV
Germline

Chr16:89816593

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8253274

rs_757468756

4 SubmittersRCV000470449 RCV003237862 RCV005010356

NM_000135.4(FANCA):c.4260+1G>A

SNV
Germline

Chr16:89738881

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615435

rs_1060501887

4 SubmittersRCV000672332 RCV000460272 RCV005001057

NM_058216.3(RAD51C):c.146-3C>T

SNV
Germline

Chr17:58694928

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8677176

rs_765143155

6 SubmittersRCV000473377 RCV001011704 RCV003221990 RCV005239034

NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro)

SNV
Germline

Chr16:89740078

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8250923

rs_142919010

7 SubmittersRCV000465004 RCV001508800 RCV003153618 RCV004975520

NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)

SNV
Germline

Chr16:89749870

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8251332

rs_139289675

13 SubmittersRCV000469035 RCV001573434 RCV001274568 RCV003424019

NM_058216.3(RAD51C):c.451G>C (p.Val151Leu)

SNV
Germline

Chr17:58696739

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA16615450

rs_753912045

4 SubmittersRCV000470450 RCV000772637 RCV003463921

NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)

SNV
Germline

Chr16:89764919

Pathogenic

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA16615452

rs_1060501880

5 SubmittersRCV000465485 RCV001091061 RCV003243136

NM_058216.3(RAD51C):c.405-1G>A

SNV
Germline

Chr17:58696692

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16615461

rs_587782036

4 SubmittersRCV000477455 RCV003463922 RCV005470430

NM_058216.3(RAD51C):c.491T>C (p.Phe164Ser)

SNV
Germline

Chr17:58696779

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA16615463

rs_1060502589

4 SubmittersRCV000469718 RCV000775751 RCV005247046

NM_000135.4(FANCA):c.1827-1G>A

SNV
Germline

Chr16:89775816

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA8252011

rs_555449842

10 SubmittersRCV000471236 RCV000667190

NM_058216.3(RAD51C):c.550G>A (p.Ala184Thr)

SNV
Germline

Chr17:58696838

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA16615466

rs_1060502604

8 SubmittersRCV000473770 RCV000579716 RCV002466509 RCV003153631 RCV005398625

NM_058216.3(RAD51C):c.1060G>A (p.Ala354Thr)

SNV
Germline

Chr17:58734151

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615468

rs_1060502590

2 SubmittersRCV000464529 RCV002411483

NM_000135.4(FANCA):c.709+5G>A

SNV
Germline

Chr16:89805275

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8252848

rs_759877008

12 SubmittersRCV000474895 RCV000673202 RCV001821265

NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter)

SNV
Germline

Chr17:61683837

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16615485

rs_777213170

4 SubmittersRCV000481412 RCV000459986 RCV002323711 RCV003463899

NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg)

SNV
Germline

Chr17:61683976

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Ovarian cancer
Fanconi anemia complementation group J
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690405

rs_147119272

7 SubmittersRCV000457812 RCV000570958 RCV003316562 RCV004999449 RCV005430355 RCV005600925

NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)

SNV
Germline

Chr17:61784403

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16615495

rs_1060501739

4 SubmittersRCV000473198 RCV003335329 RCV004722776

NM_032043.3(BRIP1):c.1629-1G>T

SNV
Germline

Chr17:61781006

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16615513

rs_1060501757

3 SubmittersRCV000468302 RCV002402250 RCV003335332

NM_032043.3(BRIP1):c.1187A>G (p.His396Arg)

SNV
Germline

Chr17:61799253

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16615514

rs_996493095

7 SubmittersRCV000456902 RCV000483663 RCV000568743 RCV001354996 RCV003463900

NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)

SNV
Germline

Chr17:61801375

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
not specified
Condition: not provided
Familial cancer of breast
BRIP1-related disorder
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690816

rs_755796609

10 SubmittersRCV000462189 RCV000563667 RCV001124866 RCV001194724 RCV001584150 RCV003463896 RCV004533180 RCV005600926

NM_032043.3(BRIP1):c.627+7A>G

SNV
Germline

Chr17:61847094

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16615518

rs_1060504334

4 SubmittersRCV000464177 RCV000581250 RCV004787760

NM_032043.3(BRIP1):c.672A>G (p.Gly224=)

SNV
Germline

Chr17:61808713

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690863

rs_752356873

8 SubmittersRCV000466277 RCV000562768 RCV000615685 RCV001721521 RCV004791482

NM_032043.3(BRIP1):c.553G>A (p.Ala185Thr)

SNV
Germline

Chr17:61847175

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690910

rs_745645356

5 SubmittersRCV000471201 RCV000581355 RCV001775807 RCV005355827

NM_032043.3(BRIP1):c.226G>A (p.Val76Ile)

SNV
Germline

Chr17:61857211

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615534

rs_769573395

5 SubmittersRCV000473938 RCV000562576 RCV002056711

NM_032043.3(BRIP1):c.661A>G (p.Thr221Ala)

SNV
Germline

Chr17:61808724

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690865

rs_777618772

6 SubmittersRCV000457055 RCV000563866 RCV001284463 RCV003463897

NM_058216.3(RAD51C):c.705+4T>G

SNV
Germline

Chr17:58703333

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615742

rs_778157321

3 SubmittersRCV000468351 RCV000566618

NM_058216.3(RAD51C):c.758A>G (p.Asp253Gly)

SNV
Germline

Chr17:58709911

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA16615753

rs_1060502592

5 SubmittersRCV000460712 RCV000566748 RCV000481758 RCV003470462

NM_058216.3(RAD51C):c.965+5G>A

SNV
Germline

Chr17:58724105

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8677367

rs_774586107

5 SubmittersRCV000467585 RCV000571578 RCV004568045

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
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA10596205

rs_1060502344

5 SubmittersRCV000469264 RCV001016835 RCV001174558 RCV005018783

NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr)

SNV
Germline

Chr17:61686036

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA16615780

rs_1060501781

7 SubmittersRCV000465302 RCV000589053 RCV000773139 RCV001563320 RCV005600927

NM_032043.3(BRIP1):c.2262A>T (p.Gly754=)

SNV
Germline

Chr17:61743130

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
BRIP1-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16615795

rs_1060504324

6 SubmittersRCV000463846 RCV001014974 RCV004732893 RCV004787745

NM_058216.3(RAD51C):c.1016T>C (p.Phe339Ser)

SNV
Germline

Chr17:58732534

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615808

rs_1060502602

4 SubmittersRCV000463439 RCV000567284 RCV003105914

NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter)

SNV
Germline

Chr17:61683718

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615821

rs_1060501774

3 SubmittersRCV000465286 RCV000775737

NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter)

SNV
Germline

Chr17:61857167

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16615839

rs_1060501740

3 SubmittersRCV000460420 RCV003335330

NM_032043.3(BRIP1):c.1644T>C (p.Tyr548=)

SNV
Germline

Chr17:61780990

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690693

rs_372760869

7 SubmittersRCV000464059 RCV001012515 RCV001432732 RCV004787755

NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr)

SNV
Germline

Chr17:61808732

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690866

rs_754242563

6 SubmittersRCV000461921 RCV000479866 RCV000580267 RCV003315428

NM_032043.3(BRIP1):c.205+2T>G

SNV
Germline

Chr17:61859794

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA16615868

rs_1060501763

1 SubmittersRCV000460534

NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)

SNV
Germline

ChrX:14845063

Conflicting classifications of pathogenicity

Fanconi anemia complementation group B
VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia
not specified
FANCB-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10353010

rs_200303151

5 SubmittersRCV000766076 RCV001487463 RCV001821263 RCV003942481 RCV004022680

NM_001018113.3(FANCB):c.510T>G (p.Ile170Met)

SNV
Germline

ChrX:14865001

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16616639

rs_775216604

3 SubmittersRCV000472221 RCV001821264 RCV003258818

NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)

SNV
Germline

Chr9:95107193

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group A
Fanconi anemia
not specified
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA5137337

rs_149917017

10 SubmittersRCV000487102 RCV001011411 RCV000988195 RCV001247526 RCV001328458 RCV002481503

NM_000136.3(FANCC):c.1264C>A (p.Leu422Met)

SNV
Germline

Chr9:95111528

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA5137407

rs_756716463

4 SubmittersRCV000478222 RCV000702767 RCV002413315 RCV001355099

NM_000136.3(FANCC):c.1244C>T (p.Ala415Val)

SNV
Germline

Chr9:95111548

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia
Fanconi anemia complementation group C
not specified

Criteria Provided
Conflicting Classifications

CA16618879

rs_550462055

7 SubmittersRCV000485470 RCV000570574 RCV000630858 RCV001274615 RCV002222522

NM_000136.3(FANCC):c.1159T>C (p.Cys387Arg)

SNV
Germline

Chr9:95111633

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16618880

rs_1064793837

5 SubmittersRCV000483173 RCV000806505 RCV002374890

NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)

SNV
Germline

Chr9:95117318

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group C
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5137481

rs_759900071

7 SubmittersRCV000483955 RCV000984263 RCV001035863 RCV002413322

NM_000136.3(FANCC):c.1014G>A (p.Lys338=)

SNV
Germline

Chr9:95117373

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA5137490

rs_780776360

5 SubmittersRCV000485919 RCV002329158 RCV001834568 RCV005398698

NM_000136.3(FANCC):c.839C>T (p.Ser280Leu)

SNV
Germline

Chr9:95135350

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A
Hereditary cancer-predisposing syndrome
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA5137627

rs_749230615

6 SubmittersRCV000484866 RCV001243848 RCV000988211 RCV001017686 RCV003409651

NM_000136.3(FANCC):c.808A>T (p.Arg270Ter)

SNV
Germline

Chr9:95135381

Likely pathogenic

Condition: not provided
Fanconi anemia complementation group C
Fanconi anemia

Criteria Provided
Single Submitter

CA5137632

rs_776054094

3 SubmittersRCV000484266 RCV000984174 RCV001835813

NM_000136.3(FANCC):c.686+5G>A

SNV
Germline

Chr9:95149918

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA16618885

rs_1064794691

5 SubmittersRCV000485260 RCV001835814 RCV002367634 RCV004554786

NM_000136.3(FANCC):c.590A>T (p.Asp197Val)

SNV
Germline

Chr9:95150019

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA16618887

rs_1064793625

3 SubmittersRCV000479725 RCV002356770 RCV002481504

NM_000136.3(FANCC):c.532G>A (p.Glu178Lys)

SNV
Germline

Chr9:95150077

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA5137699

rs_554302947

4 SubmittersRCV001023937 RCV001276456 RCV000482270 RCV000548500

NM_000136.3(FANCC):c.473C>T (p.Ala158Val)

SNV
Germline

Chr9:95171127

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137724

rs_776429990

6 SubmittersRCV000485063 RCV001066884 RCV005049565 RCV002341128

NM_000136.3(FANCC):c.349G>A (p.Val117Ile)

SNV
Germline

Chr9:95172144

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA5137757

rs_781167993

4 SubmittersRCV000482048 RCV003168961 RCV001835817

NM_000136.3(FANCC):c.238A>G (p.Ile80Val)

SNV
Germline

Chr9:95247444

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16618894

rs_1064793110

3 SubmittersRCV000480272 RCV001276465 RCV002455910

NM_000136.3(FANCC):c.112G>A (p.Val38Met)

SNV
Germline

Chr9:95249180

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA5137833

rs_778951584

6 SubmittersRCV000485675 RCV000572751 RCV000767198 RCV001372710 RCV005044712

NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe)

SNV
Germline

Chr16:23629743

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA7963582

rs_149836639

7 SubmittersRCV000481392 RCV000581656 RCV000635655 RCV002475930

NM_032444.4(SLX4):c.422G>T (p.Gly141Val)

SNV
Germline

Chr16:3608543

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Fanconi anemia
Fanconi anemia complementation group P
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7866879

rs_77306735

7 SubmittersRCV000478235 RCV000766462 RCV001087098 RCV001120334 RCV003902732

NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)

SNV
Germline

Chr16:89744961

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group A
Fanconi anemia
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8251077

rs_149797103

9 SubmittersRCV000479566 RCV000500885 RCV000813304 RCV003401525

NM_000135.4(FANCA):c.709+1G>C

SNV
Germline

Chr16:89805279

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16620313

rs_753211631

2 SubmittersRCV000484076 RCV001223396

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
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16620432

rs_1064796061

7 SubmittersRCV000478297 RCV001174661 RCV001017690 RCV002063812 RCV005355964 RCV004003390

NM_007294.4(BRCA1):c.922A>G (p.Ser308Gly)

SNV
Germline

Chr17:43094609

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10600223

rs_55767801

8 SubmittersRCV000481247 RCV000580929 RCV000766450 RCV000637630 RCV002481506 RCV004802055

NM_058216.3(RAD51C):c.145G>A (p.Glu49Lys)

SNV
Germline

Chr17:58692788

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677152

rs_753709131

3 SubmittersRCV000482039 RCV001219660 RCV005421946

NM_058216.3(RAD51C):c.402A>G (p.Leu134=)

SNV
Germline

Chr17:58695187

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA16620493

rs_1064794121

3 SubmittersRCV000481821 RCV002356777 RCV002526553

NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser)

SNV
Germline

Chr17:58695189

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA16620494

rs_767796996

8 SubmittersRCV000478459 RCV000576215 RCV000566450 RCV003334388

NM_058216.3(RAD51C):c.405-6T>A

SNV
Germline

Chr17:58696687

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA16620496

rs_1064793245

3 SubmittersRCV000481450 RCV001231879 RCV005248055

NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln)

SNV
Germline

Chr17:58734188

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Ovarian cancer
not specified
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677413

rs_577852020

10 SubmittersRCV000569753 RCV000478660 RCV000648261 RCV003153662 RCV001195031 RCV003464006

NM_032043.3(BRIP1):c.3058A>G (p.Thr1020Ala)

SNV
Germline

Chr17:61683988

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16620511

rs_1064793073

4 SubmittersRCV000482641 RCV000706762 RCV000569465

NM_032043.3(BRIP1):c.2493-1G>A

SNV
Germline

Chr17:61693513

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16620516

rs_786203451

4 SubmittersRCV000478650 RCV000694142 RCV002431385 RCV003476149

NM_032043.3(BRIP1):c.2448G>A (p.Trp816Ter)

SNV
Germline

Chr17:61715995

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA16620517

rs_1064795352

4 SubmittersRCV000485368 RCV000775951 RCV003335366 RCV005222962

NM_032043.3(BRIP1):c.2258-1G>A

SNV
Germline

Chr17:61743135

Pathogenic/Likely pathogenic

Condition: not provided
Malignant tumor of breast
Ovarian neoplasm
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16620520

rs_1064793887

8 SubmittersRCV000477981 RCV001358193 RCV000785425 RCV000793928 RCV001014953 RCV003128245 RCV002287408 RCV003335352

NM_032043.3(BRIP1):c.1628+11A>G

SNV
Germline

Chr17:61784259

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA16620530

rs_1064793459

2 SubmittersRCV000479715 RCV002063704

NM_032043.3(BRIP1):c.1432C>T (p.His478Tyr)

SNV
Germline

Chr17:61793638

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial ovarian cancer
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA8690743

rs_761452695

7 SubmittersRCV000481033 RCV000575059 RCV005600943 RCV001038079

NM_032043.3(BRIP1):c.868G>A (p.Gly290Ser)

SNV
Germline

Chr17:61808517

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA8690840

rs_145601931

4 SubmittersRCV000484748 RCV000775425 RCV000823332

NM_032043.3(BRIP1):c.504G>A (p.Gln168=)

SNV
Germline

Chr17:61849132

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16620543

rs_1064795698

4 SubmittersRCV001478232 RCV000567711 RCV000487338 RCV004787787

NM_032043.3(BRIP1):c.487C>T (p.Pro163Ser)

SNV
Germline

Chr17:61849149

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA16620544

rs_1064795902

4 SubmittersRCV000565081 RCV000483934 RCV000811860

NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly)

SNV
Germline

Chr16:89765030

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA16621696

rs_762804216

3 SubmittersRCV000487984 RCV001865499

NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala)

SNV
Germline

Chr16:89739183

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8250780

rs_753944130

4 SubmittersRCV000493395 RCV001834601

NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)

SNV
Germline

Chr16:89739517

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8250847

rs_182657062

9 SubmittersRCV000494388 RCV000666624 RCV001219227

NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)

SNV
Germline

Chr17:61744445

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Breast carcinoma
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Breast neoplasm
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482848

rs_1257401983

12 SubmittersRCV004586741 RCV003492076 RCV001554339 RCV000657691 RCV000694900 RCV000576013 RCV000504601 RCV003335408

NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)

SNV
Germline

Chr17:43074352

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided
Fanconi anemia, complementation group S
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10592205

rs_1265352633

11 SubmittersRCV000504104 RCV000776618 RCV000532651 RCV000735520 RCV000758836 RCV000765359 RCV003330731 RCV004003514

NM_001018115.3(FANCD2):c.1068T>C (p.Tyr356=)

SNV
Germline

Chr3:10043562

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2249475

rs_531943246

2 SubmittersRCV000500413 RCV002060116

NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=)

SNV
Germline

Chr3:10088540

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group D2
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2250434

rs_745765337

5 SubmittersRCV000504384 RCV001145655 RCV001436216 RCV003457712

NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)

SNV
Germline

Chr9:35077009

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group G
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5039969

rs_145613634

7 SubmittersRCV000500656 RCV000630991 RCV001294012 RCV001597147

NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp)

SNV
Germline

Chr15:89303912

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

CA7723566

rs_149167939

3 SubmittersRCV000499688 RCV000550556 RCV001293992

NM_005236.3(ERCC4):c.471A>G (p.Lys157=)

SNV
Germline

Chr16:13926643

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA7910208

rs_3136092

2 SubmittersRCV000499897 RCV002060112

NM_005236.3(ERCC4):c.2427G>A (p.Thr809=)

SNV
Germline

Chr16:13948023

Conflicting classifications of pathogenicity

not specified
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA7910736

rs_2020960

2 SubmittersRCV000503360 RCV000651480

NM_032444.4(SLX4):c.5262G>A (p.Glu1754=)

SNV
Germline

Chr16:3582585

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA493390650

rs_1158728649

2 SubmittersRCV000501501 RCV003635921

NM_032444.4(SLX4):c.4530G>T (p.Leu1510=)

SNV
Germline

Chr16:3589108

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group P
SLX4-related disorder
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7865609

rs_139254595

7 SubmittersRCV000502567 RCV001121628 RCV003942652 RCV000860747 RCV005243258

NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly)

SNV
Germline

Chr16:3589614

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7865760

rs_140051968

4 SubmittersRCV000862104 RCV000502403 RCV001118202

NM_032444.4(SLX4):c.3370A>G (p.Ile1124Val)

SNV
Germline

Chr16:3590268

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Inborn genetic diseases
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7865928

rs_766081510

4 SubmittersRCV000504455 RCV001857166 RCV004023404 RCV005018861

NM_032444.4(SLX4):c.2118C>T (p.His706=)

SNV
Germline

Chr16:3594495

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7866287

rs_371401752

3 SubmittersRCV000501193 RCV000860385 RCV005243259

NM_032444.4(SLX4):c.708G>A (p.Ala236=)

SNV
Germline

Chr16:3606526

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7866779

rs_765742613

2 SubmittersRCV000500148 RCV001446504

NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)

SNV
Germline

Chr16:89746615

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251139

rs_142833057

5 SubmittersRCV000503023 RCV000630890 RCV003478070

NM_000135.4(FANCA):c.2601+9A>T

SNV
Germline

Chr16:89767132

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8251668

rs_771837383

2 SubmittersRCV000502806 RCV000868476

NM_000135.4(FANCA):c.2601+1G>T

SNV
Germline

Chr16:89767140

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397440342

rs_1188581065

4 SubmittersRCV000502863 RCV001851411

NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)

SNV
Germline

Chr16:89769943

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397443878

rs_1555547474

4 SubmittersRCV000499975 RCV001380594

NM_000135.4(FANCA):c.2222+7G>A

SNV
Germline

Chr16:89770557

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8251840

rs_374312736

4 SubmittersRCV000502652 RCV000864671 RCV001276548 RCV003942632

NM_000135.4(FANCA):c.2151+1G>A

SNV
Germline

Chr16:89771677

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397447830

rs_1555548428

1 SubmittersRCV000501439

NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)

SNV
Germline

Chr16:89791422

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397463723

rs_149551759

4 SubmittersRCV000499830 RCV001857096

NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp)

SNV
Germline

Chr16:89792506

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8252551

rs_150290184

3 SubmittersRCV000503436 RCV002481612 RCV002524182

NM_000135.4(FANCA):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:89816615

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397484679

rs_772751654

9 SubmittersRCV000500370 RCV001383377 RCV004701568

NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)

SNV
Germline

Chr17:61780893

Pathogenic

Breast cancer, early-onset
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian neoplasm
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
BRIP1-related disorder
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA8690678

rs_780020495

15 SubmittersRCV000503203 RCV000568917 RCV000657756 RCV000785424 RCV000804787 RCV003335432 RCV004535588 RCV005055362

NM_032043.3(BRIP1):c.1141-9A>G

SNV
Germline

Chr17:61799308

Conflicting classifications of pathogenicity

Breast cancer, early-onset
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501151719

rs_1555607258

6 SubmittersRCV000500479 RCV000606663 RCV001405195 RCV000776714 RCV001356605 RCV004787810

NM_001018113.3(FANCB):c.2228T>G (p.Phe743Cys)

SNV
Germline

ChrX:14843919

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10352937

rs_747865842

5 SubmittersRCV000504138 RCV001857097 RCV004808737 RCV005338205

NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile)

SNV
Germline

ChrX:14865384

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Condition: not provided
FANCB-related disorder

Criteria Provided
Conflicting Classifications

CA10353231

rs_771007866

6 SubmittersRCV000501276 RCV001516277 RCV003237883 RCV004748791

NM_000059.4(BRCA2):c.-40+7G>T

SNV
Germline

Chr13:32315674

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D1
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA645509353

rs_1555279969

4 SubmittersRCV001113448 RCV000581674 RCV001113449 RCV000868731 RCV004999552

NM_058216.3(RAD51C):c.186A>C (p.Gln62His)

SNV
Germline

Chr17:58694971

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400339812

rs_28363303

5 SubmittersRCV001175680 RCV000508321 RCV000699558 RCV004701575

NM_032043.3(BRIP1):c.1182A>G (p.Glu394=)

SNV
Germline

Chr17:61799258

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501151609

rs_1555607195

4 SubmittersRCV000507851 RCV004948374 RCV002060165 RCV004787815

NM_032043.3(BRIP1):c.387T>C (p.Pro129=)

SNV
Germline

Chr17:61849249

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690937

rs_779324498

5 SubmittersRCV001021345 RCV000507927 RCV000548940 RCV004787816

NM_000135.4(FANCA):c.1226-2A>G

SNV
Germline

Chr16:89791538

Pathogenic/Likely pathogenic

not specified
Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA8252436

rs_773906241

8 SubmittersRCV000507098 RCV000701341 RCV000667573

NM_000059.4(BRCA2):c.5602G>A (p.Asp1868Asn)

SNV
Germline

Chr13:32339957

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

CA387786063

rs_80358781

6 SubmittersRCV000692500 RCV000509970 RCV001113817 RCV001113818

NM_007294.4(BRCA1):c.*1271T>C

SNV
Germline

Chr17:43044407

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA658653683

rs_1555574034

4 SubmittersRCV000509816 RCV004568656 RCV005356042

NM_007294.4(BRCA1):c.1040T>A (p.Leu347Gln)

SNV
Germline

Chr17:43094491

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
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

CA8589954

rs_757987511

5 SubmittersRCV000510063 RCV005018871 RCV001204569 RCV000759486

NM_007294.4(BRCA1):c.206C>T (p.Thr69Ile)

SNV
Germline

Chr17:43106462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10601755

rs_273898675

7 SubmittersRCV000510054 RCV000780988 RCV000554771 RCV001077156 RCV005356041

NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter)

SNV
Germline

Chr14:45167133

Pathogenic/Likely pathogenic

Condition: not provided
Spermatogenic failure 28
Spermatogenic failure 28
Premature ovarian failure 15
Fanconi anemia
Hereditary cancer-predisposing syndrome
FANCM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7169194

rs_368728266

9 SubmittersRCV000513240 RCV001293940 RCV005010460 RCV000705743 RCV002256327 RCV004737581

NM_004629.2(FANCG):c.1077-2A>G

SNV
Germline

Chr9:35076030

Pathogenic

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA5039842

rs_769547477

10 SubmittersRCV000514018 RCV000695845 RCV000760153

NM_018124.4(RFWD3):c.1916T>A (p.Ile639Lys)

SNV
Germline

Chr16:74628505

Pathogenic

Fanconi anemia, complementation group W
Condition: not provided

No Assertion Criteria Provided

CA396759750

rs_1555524842

2 SubmittersRCV000515641 RCV001194816

NM_000136.3(FANCC):c.271A>G (p.Ile91Val)

SNV
Germline

Chr9:95240723

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA5137785

rs_771619614

5 SubmittersRCV000518928 RCV000687151 RCV001016395 RCV005398750

NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)

SNV
Germline

Chr15:89268467

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group I
not specified

Criteria Provided
Conflicting Classifications

CA7722781

rs_142906652

10 SubmittersRCV000529696 RCV000523947 RCV001118938 RCV001821453

NM_000135.4(FANCA):c.1776+1G>A

SNV
Germline

Chr16:89778942

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA8252113

rs_756140957

4 SubmittersRCV000523348 RCV000685268 RCV003464113

NM_058216.3(RAD51C):c.1039A>T (p.Arg347Ter)

SNV
Germline

Chr17:58734130

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400365939

rs_1555605532

4 SubmittersRCV000520821 RCV000648241 RCV001017115

NM_032043.3(BRIP1):c.2816C>G (p.Ala939Gly)

SNV
Germline

Chr17:61685925

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8690454

rs_756490117

4 SubmittersRCV000522943 RCV000553783 RCV000775412

NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)

SNV
Germline

Chr3:10065867

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
not specified
Hepatoblastoma
Condition: not provided
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA2250030

rs_540805431

8 SubmittersRCV000543810 RCV001292722 RCV001821496 RCV001843527 RCV002275050 RCV003942732

NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)

SNV
Germline

Chr2:58229827

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group L
not specified
FANCL-related disorder

Criteria Provided
Conflicting Classifications

CA1670757

rs_143819820

7 SubmittersRCV000552744 RCV001137464 RCV001821482 RCV003925582

NM_001018115.3(FANCD2):c.3645T>A (p.Pro1215=)

SNV
Germline

Chr3:10088912

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA432417117

rs_1168183069

2 SubmittersRCV000556950 RCV001145656

NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)

SNV
Germline

Chr3:10032845

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
not specified
Condition: not provided
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA2249106

rs_45510294

12 SubmittersRCV000538452 RCV001150741 RCV001821498 RCV001528593 RCV003979943

NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val)

SNV
Germline

Chr3:10060312

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA2249762

rs_201408009

3 SubmittersRCV000540839 RCV003316681

NM_001018115.3(FANCD2):c.3973C>A (p.Leu1325Met)

SNV
Germline

Chr3:10095209

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA2250597

rs_555539811

4 SubmittersRCV000535262 RCV002506293 RCV003153680

NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)

SNV
Germline

Chr3:10032949

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Fanconi anemia complementation group D2
Condition: not provided
not specified
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA2249126

rs_35110529

8 SubmittersRCV000539433 RCV000987093 RCV001144633 RCV001531560 RCV003151085 RCV003942731

NM_001018115.3(FANCD2):c.672C>T (p.His224=)

SNV
Germline

Chr3:10039822

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
not specified

Criteria Provided
Conflicting Classifications

CA2249292

rs_371928644

4 SubmittersRCV000528234 RCV001146796 RCV001821497

NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val)

SNV
Germline

Chr3:10047986

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2249616

rs_145129959

7 SubmittersRCV000552393 RCV000764453 RCV001092962 RCV003488659

NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met)

SNV
Germline

Chr3:10096339

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2250621

rs_775898191

4 SubmittersRCV000550015 RCV001770410 RCV003237893

NM_021922.3(FANCE):c.206G>A (p.Arg69Gln)

SNV
Germline

Chr6:35452751

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3771352

rs_758238449

6 SubmittersRCV000537323 RCV001821581 RCV002530181 RCV001797103

NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)

SNV
Germline

Chr6:35455772

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA3771370

rs_375195621

4 SubmittersRCV000525524 RCV001821582 RCV002256387

NM_021922.3(FANCE):c.1309A>G (p.Met437Val)

SNV
Germline

Chr6:35459753

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3771661

rs_746770705

3 SubmittersRCV000543258 RCV004619332

NM_000136.3(FANCC):c.1329+1G>T

SNV
Germline

Chr9:95111462

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374107215

rs_1554829441

2 SubmittersRCV000529278 RCV001004548

NM_000136.3(FANCC):c.1275C>G (p.Leu425=)

SNV
Germline

Chr9:95111517

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137405

rs_767126985

4 SubmittersRCV000988201 RCV001394428 RCV002448612 RCV003478125

NM_000136.3(FANCC):c.1030A>G (p.Thr344Ala)

SNV
Germline

Chr9:95117357

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374108173

rs_1228873579

2 SubmittersRCV000549299 RCV002384041

NM_000136.3(FANCC):c.591C>G (p.Asp197Glu)

SNV
Germline

Chr9:95150018

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA374109706

rs_1457631500

5 SubmittersRCV000527037 RCV002051864 RCV002358436 RCV005398777

NM_000136.3(FANCC):c.251-2A>G

SNV
Germline

Chr9:95240745

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374339536

rs_1057517219

1 SubmittersRCV000558309

NM_000136.3(FANCC):c.112G>C (p.Val38Leu)

SNV
Germline

Chr9:95249180

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374340308

rs_778951584

3 SubmittersRCV000527400 RCV005620370 RCV002323915

NM_000136.3(FANCC):c.896+1G>C

SNV
Germline

Chr9:95126528

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

CA374109045

rs_1554833186

3 SubmittersRCV000530897 RCV005044797

NM_022725.4(FANCF):c.573C>G (p.Ser191Arg)

SNV
Germline

Chr11:22625238

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group F
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5924308

rs_146219377

6 SubmittersRCV000557500 RCV000764967 RCV001545711 RCV001821485 RCV002527669

NM_000059.4(BRCA2):c.8672C>G (p.Thr2891Arg)

SNV
Germline

Chr13:32376709

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Prostate cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387754747

rs_1401510742

4 SubmittersRCV000550387 RCV000568136 RCV001535782 RCV005357575

NM_020937.4(FANCM):c.30G>A (p.Gln10=)

SNV
Germline

Chr14:45136061

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
FANCM-related disorder
Inborn genetic diseases
Hereditary cancer-predisposing syndrome
Premature ovarian failure 15

Criteria Provided
Conflicting Classifications

CA7168684

rs_145745979

8 SubmittersRCV000545488 RCV001788277 RCV004537900 RCV004975635 RCV002255432 RCV005235381

NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly)

SNV
Germline

Chr14:45164444

Conflicting classifications of pathogenicity

Fanconi anemia
Spermatogenic failure 28
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary cancer
Spermatogenic failure 28
Premature ovarian failure 15

Criteria Provided
Conflicting Classifications

CA7169123

rs_148810507

7 SubmittersRCV000536634 RCV001293939 RCV001584242 RCV002255431 RCV003492091 RCV005010491

NM_020937.4(FANCM):c.2267G>A (p.Arg756His)

SNV
Germline

Chr14:45173161

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Premature ovarian failure 15
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7169305

rs_142763060

6 SubmittersRCV000526327 RCV001591192 RCV002257786 RCV003316678 RCV004541643

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
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1

Criteria Provided
Conflicting Classifications

CA6940915

rs_55877890

7 SubmittersRCV000531811 RCV000568300 RCV003999064 RCV003447541

NM_020937.4(FANCM):c.53G>A (p.Arg18Gln)

SNV
Germline

Chr14:45136084

Conflicting classifications of pathogenicity

Fanconi anemia
Spermatogenic failure 28
Premature ovarian failure 15
Fanconi anemia complementation group A
Condition: not provided
not specified
Premature ovarian failure 15

Criteria Provided
Conflicting Classifications

CA7168688

rs_146609069

10 SubmittersRCV000554625 RCV000763926 RCV000989207 RCV001770408 RCV001821483 RCV003338648

NM_020937.4(FANCM):c.693A>G (p.Glu231=)

SNV
Germline

Chr14:45140643

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7168836

rs_146597866

2 SubmittersRCV000533211 RCV003325490

NM_020937.4(FANCM):c.1196C>G (p.Ser399Ter)

SNV
Germline

Chr14:45154709

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389591110

rs_1166587869

1 SubmittersRCV000557989

NM_020937.4(FANCM):c.1996A>G (p.Arg666Gly)

SNV
Germline

Chr14:45167157

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7169200

rs_78437454

3 SubmittersRCV000529036 RCV003231525 RCV004537898

NM_020937.4(FANCM):c.2330A>G (p.Tyr777Cys)

SNV
Germline

Chr14:45175084

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7169337

rs_200173413

5 SubmittersRCV000538182 RCV001088406 RCV004541644

NM_020937.4(FANCM):c.179C>A (p.Ala60Glu)

SNV
Germline

Chr14:45136210

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Spermatogenic failure 28
Premature ovarian failure 15
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7168713

rs_200717151

7 SubmittersRCV000540275 RCV001090527 RCV002490947 RCV003994000

NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter)

SNV
Germline

Chr14:45164368

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389593431

rs_1447482674

1 SubmittersRCV000547908

NM_005236.3(ERCC4):c.228G>A (p.Leu76=)

SNV
Germline

Chr16:13922051

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
Xeroderma pigmentosum, group F
Xeroderma pigmentosum
ERCC4-related disorder

Criteria Provided
Conflicting Classifications

CA7910129

rs_61760162

4 SubmittersRCV000560297 RCV001116102 RCV002257838 RCV003900232

NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr)

SNV
Germline

Chr16:13922148

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
Xeroderma pigmentosum
not specified
Xeroderma pigmentosum, group F
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7910153

rs_148791570

5 SubmittersRCV000547965 RCV002257839 RCV001821617 RCV001117537 RCV001569666

NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe)

SNV
Germline

Chr16:13932214

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA7910342

rs_145851520

2 SubmittersRCV000540520 RCV001292941

NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)

SNV
Germline

Chr16:3602235

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7866728

rs_201192909

6 SubmittersRCV000549439 RCV001118505 RCV002263734

NM_032444.4(SLX4):c.426T>A (p.Gly142=)

SNV
Germline

Chr16:3608539

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7866875

rs_377500336

3 SubmittersRCV001120333 RCV000537241

NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)

SNV
Germline

Chr16:89739526

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8250848

rs_374649848

5 SubmittersRCV000545703 RCV000765321 RCV002476091

NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter)

SNV
Germline

Chr16:89748691

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397486253

rs_777825824

1 SubmittersRCV000536967

NM_000135.4(FANCA):c.1900+7T>A

SNV
Germline

Chr16:89775735

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
FANCA-related disorder
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251983

rs_377401016

6 SubmittersRCV000557762 RCV001821475 RCV003960254 RCV002490944 RCV003326450

NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)

SNV
Germline

Chr16:89795941

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397469937

rs_1447363475

6 SubmittersRCV000527193 RCV000673548 RCV005001074

NM_000135.4(FANCA):c.881T>C (p.Ile294Thr)

SNV
Germline

Chr16:89799178

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397472827

rs_1555566545

2 SubmittersRCV000546332 RCV005338223

NM_000135.4(FANCA):c.874C>G (p.His292Asp)

SNV
Germline

Chr16:89799185

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8252711

rs_200220791

6 SubmittersRCV000532298 RCV000764090 RCV001797096

NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)

SNV
Germline

Chr16:23624022

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA7963481

rs_778602038

9 SubmittersRCV000534984 RCV000759902 RCV000572648 RCV005004225

NM_024675.4(PALB2):c.828C>T (p.His276=)

SNV
Germline

Chr16:23635718

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial ovarian cancer
Fanconi anemia complementation group N
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA279499381

rs_911713488

9 SubmittersRCV000557022 RCV000567452 RCV001171908 RCV001357885 RCV001118311 RCV001354533

NM_024675.4(PALB2):c.718C>A (p.Pro240Thr)

SNV
Germline

Chr16:23635828

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA7963768

rs_757567654

5 SubmittersRCV000530439 RCV000568617 RCV001030167 RCV001118312

NM_024675.4(PALB2):c.3394T>C (p.Leu1132=)

SNV
Germline

Chr16:23603626

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA494173743

rs_1282821765

7 SubmittersRCV000528385 RCV000602592 RCV001121623 RCV001020184 RCV001796099

NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val)

SNV
Germline

Chr16:3589371

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA276958396

rs_953994627

3 SubmittersRCV000559513 RCV000764054 RCV003243177

NM_032444.4(SLX4):c.3782C>T (p.Pro1261Leu)

SNV
Germline

Chr16:3589856

Conflicting classifications of pathogenicity

Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

CA7865834

rs_374056556

2 SubmittersRCV000545382 RCV001821491

NM_032444.4(SLX4):c.832C>T (p.Arg278Trp)

SNV
Germline

Chr16:3602236

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group P
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7866729

rs_141597706

7 SubmittersRCV000534649 RCV001290535 RCV001764528 RCV003237892

NM_032444.4(SLX4):c.85C>T (p.Arg29Cys)

SNV
Germline

Chr16:3608880

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7866957

rs_144832924

6 SubmittersRCV000527683 RCV001118601 RCV001821493 RCV001775845

NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile)

SNV
Germline

Chr16:3589048

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7865592

rs_147315419

5 SubmittersRCV000540214 RCV000585421 RCV001121625

NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp)

SNV
Germline

Chr16:3589962

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group P
not specified
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7865871

rs_142008398

7 SubmittersRCV000552069 RCV001572565 RCV001293953 RCV003151083 RCV003960260

NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala)

SNV
Germline

Chr16:3592736

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
SLX4-related disorder
Condition: not provided
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866207

rs_151105762

8 SubmittersRCV000558751 RCV001821488 RCV003915485 RCV003156249 RCV005235382

NM_032444.4(SLX4):c.192A>G (p.Lys64=)

SNV
Germline

Chr16:3608773

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7866931

rs_756720856

3 SubmittersRCV001115438 RCV001479443 RCV003424087

NM_000135.4(FANCA):c.4261-9C>G

SNV
Germline

Chr16:89738717

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8250602

rs_368506826

4 SubmittersRCV000559601 RCV001115283 RCV003478123

NM_000135.4(FANCA):c.3828+1G>C

SNV
Germline

Chr16:89740803

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA397485124

rs_1432988639

4 SubmittersRCV000546890 RCV001783028 RCV003935400

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
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10598605

rs_1310719199

5 SubmittersRCV000554416 RCV001193800 RCV002404415 RCV005357577

NM_000135.4(FANCA):c.2856G>C (p.Gln952His)

SNV
Germline

Chr16:89758702

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251452

rs_200093209

5 SubmittersRCV000555471 RCV001821477 RCV002254702

NM_000135.4(FANCA):c.2589C>A (p.Gly863=)

SNV
Germline

Chr16:89767153

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251673

rs_72807571

7 SubmittersRCV000538744 RCV001115462 RCV001800737 RCV003960255 RCV004975621

NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter)

SNV
Germline

Chr16:89749884

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397486730

rs_1555538740

1 SubmittersRCV000543183

NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)

SNV
Germline

Chr16:89765010

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8251602

rs_139002130

13 SubmittersRCV000542670 RCV001120360 RCV001562680 RCV003409764

NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)

SNV
Germline

Chr16:89775771

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8251997

rs_146491000

7 SubmittersRCV000555138 RCV002476088 RCV002293448 RCV004619317 RCV004742487

NM_000135.4(FANCA):c.964C>T (p.His322Tyr)

SNV
Germline

Chr16:89795948

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8252610

rs_772768595

7 SubmittersRCV000548806 RCV000674060 RCV005001073

NM_058216.3(RAD51C):c.312T>A (p.Cys104Ter)

SNV
Germline

Chr17:58695097

Pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA400341116

rs_1555593715

1 SubmittersRCV000576233

NM_058216.3(RAD51C):c.641G>A (p.Arg214His)

SNV
Germline

Chr17:58703265

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Malignant tumor of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677286

rs_760911964

7 SubmittersRCV000574960 RCV000576239 RCV001354764 RCV001764672 RCV004553284

NM_032043.3(BRIP1):c.2435C>T (p.Pro812Leu)

SNV
Germline

Chr17:61716008

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400479625

rs_876659410

4 SubmittersRCV000535997 RCV000587115 RCV000579710

NM_032043.3(BRIP1):c.2307G>A (p.Leu769=)

SNV
Germline

Chr17:61743085

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA501151110

rs_1555590464

7 SubmittersRCV000546651 RCV000574495 RCV001551550 RCV003316702 RCV005367384

NM_032043.3(BRIP1):c.1936-7A>G

SNV
Germline

Chr17:61776569

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658658668

rs_1427111542

3 SubmittersRCV000530471 RCV000777188 RCV004787868

NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln)

SNV
Germline

Chr17:61808594

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690847

rs_758360637

7 SubmittersRCV000551521 RCV000572564 RCV001192825 RCV003459219 RCV003478140

NM_000135.4(FANCA):c.2637C>T (p.Ala879=)

SNV
Germline

Chr16:89765031

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251608

rs_149435806

6 SubmittersRCV000549123 RCV001120361 RCV003478119 RCV004975622

NM_032043.3(BRIP1):c.385C>T (p.Pro129Ser)

SNV
Germline

Chr17:61849251

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400484605

rs_1555616229

3 SubmittersRCV000536304 RCV002358486 RCV004691859

NM_032043.3(BRIP1):c.380-7A>G

SNV
Germline

Chr17:61849263

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA8690939

rs_748143260

6 SubmittersRCV000560139 RCV001526177 RCV004787878 RCV004689784

NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser)

SNV
Germline

Chr17:61857081

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA292280535

rs_889877039

7 SubmittersRCV000539870 RCV000572830 RCV000985639 RCV001262881 RCV003987590

NM_032043.3(BRIP1):c.267A>T (p.Ala89=)

SNV
Germline

Chr17:61857170

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501151410

rs_764027029

5 SubmittersRCV000535184 RCV000777013 RCV004787871 RCV004767347

NM_032043.3(BRIP1):c.93+1G>A

SNV
Germline

Chr17:61861446

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485892

rs_587782047

4 SubmittersRCV000546192 RCV001171457 RCV002377045

NM_000135.4(FANCA):c.953G>T (p.Arg318Met)

SNV
Germline

Chr16:89795959

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252614

rs_72552377

3 SubmittersRCV000560274 RCV001120563

NM_000135.4(FANCA):c.527C>T (p.Ser176Phe)

SNV
Germline

Chr16:89808363

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252945

rs_35566151

3 SubmittersRCV000551260 RCV001118712

NM_000135.4(FANCA):c.265C>T (p.His89Tyr)

SNV
Germline

Chr16:89814538

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8253102

rs_746125523

4 SubmittersRCV000552747 RCV005000126 RCV005018902

NM_000135.4(FANCA):c.186T>A (p.Leu62=)

SNV
Germline

Chr16:89815880

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA497196724

rs_1555580352

2 SubmittersRCV000545000 RCV005010487

NM_058216.3(RAD51C):c.236C>T (p.Ser79Phe)

SNV
Germline

Chr17:58695021

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400340273

rs_1555593569

3 SubmittersRCV000543115 RCV001545552 RCV004659117

NM_058216.3(RAD51C):c.385G>A (p.Val129Ile)

SNV
Germline

Chr17:58695170

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400341933

rs_1555593879

2 SubmittersRCV000560740 RCV002358633

NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg)

SNV
Germline

Chr17:58720812

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400359832

rs_1555602158

5 SubmittersRCV000553972 RCV000709517 RCV000564740 RCV005248215

NM_058216.3(RAD51C):c.956G>A (p.Arg319Gln)

SNV
Germline

Chr17:58724091

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA8677366

rs_367846829

7 SubmittersRCV000526400 RCV000561452 RCV000781791 RCV003470801 RCV001591317 RCV005018960

NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter)

SNV
Germline

Chr17:58732512

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400364974

rs_1555605074

8 SubmittersRCV000568757 RCV000579112 RCV000576180 RCV003459395

NM_032043.3(BRIP1):c.2714A>G (p.Asn905Ser)

SNV
Germline

Chr17:61686027

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400481678

rs_1555573412

2 SubmittersRCV000540935 RCV002431577

NM_032043.3(BRIP1):c.1140+7A>G

SNV
Germline

Chr17:61801246

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA626807417

rs_1299846526

2 SubmittersRCV000555519 RCV004787861

NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile)

SNV
Germline

Chr17:61857099

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA8690960

rs_778480809

8 SubmittersRCV000535510 RCV000571933 RCV002284407 RCV003459217 RCV004527640

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
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10593867

rs_80357345

8 SubmittersRCV000544160 RCV000565791 RCV001284396 RCV001821530 RCV005357579

NM_058216.3(RAD51C):c.966-8T>G

SNV
Germline

Chr17:58732476

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA658658631

rs_1181139153

2 SubmittersRCV000527554 RCV002483521

NM_058216.3(RAD51C):c.1094C>T (p.Thr365Ile)

SNV
Germline

Chr17:58734185

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8677412

rs_755838887

2 SubmittersRCV000550580 RCV002448752

NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala)

SNV
Germline

Chr17:61683523

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292267187

rs_372799558

6 SubmittersRCV000525915 RCV000989975 RCV001020519 RCV000780067 RCV001591213

NM_032043.3(BRIP1):c.2905+4T>A

SNV
Germline

Chr17:61685832

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400481074

rs_373835270

3 SubmittersRCV000542761 RCV000561296 RCV004023848

NM_032043.3(BRIP1):c.1795-9T>G

SNV
Germline

Chr17:61780410

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690649

rs_777006706

7 SubmittersRCV000552644 RCV000615895 RCV003316701 RCV001185499 RCV005430366

NM_032043.3(BRIP1):c.1497A>G (p.Gln499=)

SNV
Germline

Chr17:61784401

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501150798

rs_1555603597

4 SubmittersRCV000531033 RCV002282210 RCV002395347

NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter)

SNV
Germline

Chr17:58695035

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA400340403

rs_1555593616

6 SubmittersRCV000535884 RCV000573983 RCV003459268 RCV002497205

NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly)

SNV
Germline

Chr17:58696749

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8677230

rs_758847241

3 SubmittersRCV000527443 RCV002330937

NM_032043.3(BRIP1):c.736A>G (p.Ile246Val)

SNV
Germline

Chr17:61808649

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690851

rs_376893571

9 SubmittersRCV000534123 RCV000759716 RCV000580310 RCV001125840 RCV003324713

NM_058216.3(RAD51C):c.1027-3C>T

SNV
Germline

Chr17:58734115

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8677406

rs_587782459

4 SubmittersRCV000529443 RCV000775401 RCV001193598

NM_058216.3(RAD51C):c.1051G>A (p.Val351Ile)

SNV
Germline

Chr17:58734142

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA400366049

rs_1160208500

4 SubmittersRCV000547645 RCV000562130 RCV005357602

NM_032043.3(BRIP1):c.3272A>G (p.His1091Arg)

SNV
Germline

Chr17:61683774

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8690376

rs_776129117

2 SubmittersRCV000540633 RCV005306068

NM_032043.3(BRIP1):c.2590G>A (p.Val864Ile)

SNV
Germline

Chr17:61686151

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690474

rs_149529390

5 SubmittersRCV000546088 RCV000575702 RCV000679781

NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)

SNV
Germline

Chr17:61780371

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292281934

rs_189758577

7 SubmittersRCV000528910 RCV000590700 RCV000581727 RCV003144328 RCV003459211

NM_032043.3(BRIP1):c.1628+5G>A

SNV
Germline

Chr17:61784265

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8690711

rs_754929230

8 SubmittersRCV000557392 RCV000572734 RCV000586595 RCV003144327 RCV003459210 RCV005056141

NM_032043.3(BRIP1):c.1141-3T>C

SNV
Germline

Chr17:61799302

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690782

rs_773264592

3 SubmittersRCV000531419 RCV001017440 RCV004787862

NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val)

SNV
Germline

ChrX:14843820

Conflicting classifications of pathogenicity

Condition: not provided
VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia complementation group B
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA10352926

rs_761492600

5 SubmittersRCV000528766 RCV001169617 RCV001169618 RCV001444357

NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met)

SNV
Germline

ChrX:14859207

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA10353134

rs_138192474

2 SubmittersRCV000548316

NM_001018113.3(FANCB):c.199A>G (p.Ile67Val)

SNV
Germline

ChrX:14865312

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group B
VACTERL association, X-linked, with or without hydrocephalus

Criteria Provided
Conflicting Classifications

CA10353223

rs_761346761

2 SubmittersRCV000528416 RCV000766077

NM_001018113.3(FANCB):c.52T>C (p.Tyr18His)

SNV
Germline

ChrX:14865459

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group B

Criteria Provided
Conflicting Classifications

CA327063415

rs_996732250

3 SubmittersRCV000532263 RCV004783803

NM_001018113.3(FANCB):c.884G>A (p.Gly295Glu)

SNV
Germline

ChrX:14864627

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group B

Criteria Provided
Conflicting Classifications

CA412443491

rs_1270593506

2 SubmittersRCV000545120 RCV005600970

NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr)

SNV
Germline

ChrX:14850652

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10353056

rs_764817410

3 SubmittersRCV000535909 RCV005562380

NM_005431.2(XRCC2):c.190C>T (p.Arg64Ter)

SNV
Germline

Chr7:152649295

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Spermatogenic failure 50
Premature ovarian failure 17
Fanconi anemia complementation group U

Criteria Provided
Conflicting Classifications

CA4582376

rs_151110146

5 SubmittersRCV000572575 RCV001312491 RCV005034145

NM_000136.3(FANCC):c.946C>T (p.Gln316Ter)

SNV
Germline

Chr9:95125136

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

CA5137577

rs_776529713

3 SubmittersRCV000569363 RCV000818488 RCV004569262

NM_000136.3(FANCC):c.1622C>T (p.Pro541Leu)

SNV
Germline

Chr9:95101762

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374104406

rs_1554827120

4 SubmittersRCV000567655 RCV000630828 RCV002293461

NM_000136.3(FANCC):c.536G>A (p.Arg179Gln)

SNV
Germline

Chr9:95150073

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia
Condition: not provided
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA5137696

rs_538875706

5 SubmittersRCV000567484 RCV000630855 RCV001788294 RCV002476246

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
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387772620

rs_864622476

5 SubmittersRCV000570600 RCV001109532 RCV001109533 RCV001867857 RCV004802211

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 SubmittersRCV000566230 RCV001320393 RCV001821668 RCV003227793 RCV003234782

NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu)

SNV
Germline

Chr16:23623045

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395144193

rs_1418709183

5 SubmittersRCV000568691 RCV000817606 RCV002491131 RCV003128630

NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile)

SNV
Germline

Chr16:23603520

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA395137900

rs_1308784980

8 SubmittersRCV000571848 RCV000635737 RCV000756459 RCV005018978

NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu)

SNV
Germline

Chr16:23630128

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963636

rs_761478794

6 SubmittersRCV000563462 RCV000764049 RCV000989562

NM_024675.4(PALB2):c.2748+1G>A

SNV
Germline

Chr16:23626235

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Multiple Submitters
No Conflicts

CA279488993

rs_753153576

8 SubmittersRCV000563623 RCV001234382 RCV000985891 RCV005018988

NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg)

SNV
Germline

Chr16:23629920

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Carcinoma of colon
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963609

rs_142343372

9 SubmittersRCV000566180 RCV000689640 RCV001030288 RCV001775883 RCV002491122

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
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10597547

rs_1212635015

4 SubmittersRCV000575370 RCV001296814 RCV005357678

NM_007294.4(BRCA1):c.2981G>A (p.Cys994Tyr)

SNV
Germline

Chr17:43092550

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10596038

rs_1238452758

7 SubmittersRCV000561966 RCV001764658 RCV001326585 RCV005357679 RCV004802223

NM_058216.3(RAD51C):c.145+1G>A

SNV
Germline

Chr17:58692789

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8677153

rs_757128712

5 SubmittersRCV000563566 RCV003617833 RCV003459370

NM_058216.3(RAD51C):c.440G>A (p.Cys147Tyr)

SNV
Germline

Chr17:58696728

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677227

rs_764177838

5 SubmittersRCV000570438 RCV001858344 RCV000986009 RCV004569244

NM_007294.4(BRCA1):c.948C>G (p.Ser316Arg)

SNV
Germline

Chr17:43094583

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10600171

rs_1555592782

7 SubmittersRCV000561351 RCV001584381 RCV001055289 RCV005357677 RCV004001007

NM_058216.3(RAD51C):c.572-2A>G

SNV
Germline

Chr17:58703194

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8677278

rs_145310733

4 SubmittersRCV000575367 RCV000804972 RCV003459306

NM_058216.3(RAD51C):c.1008A>G (p.Thr336=)

SNV
Germline

Chr17:58732526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Malignant tumor of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA400365093

rs_1057521598

9 SubmittersRCV000567794 RCV000648289 RCV001354176 RCV001764646 RCV002291669 RCV005600990

NM_058216.3(RAD51C):c.1093A>C (p.Thr365Pro)

SNV
Germline

Chr17:58734184

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400366427

rs_1350543873

2 SubmittersRCV000564276 RCV003617825

NM_058216.3(RAD51C):c.1094C>G (p.Thr365Ser)

SNV
Germline

Chr17:58734185

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400366444

rs_755838887

2 SubmittersRCV000566985 RCV001219253

NM_058216.3(RAD51C):c.20G>A (p.Arg7His)

SNV
Germline

Chr17:58692663

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA292046832

rs_892567748

2 SubmittersRCV000563169 RCV000706180

NM_058216.3(RAD51C):c.82G>C (p.Val28Leu)

SNV
Germline

Chr17:58692725

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400337090

rs_1060502587

3 SubmittersRCV000575411 RCV001858214 RCV004569165

NM_058216.3(RAD51C):c.214A>G (p.Lys72Glu)

SNV
Germline

Chr17:58694999

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8677185

rs_775224480

6 SubmittersRCV000560970 RCV001044160 RCV002483524 RCV003478220

NM_058216.3(RAD51C):c.246C>G (p.His82Gln)

SNV
Germline

Chr17:58695031

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400340355

rs_1555593602

3 SubmittersRCV000568378 RCV005000298 RCV001853743

NM_058216.3(RAD51C):c.146-2A>G

SNV
Germline

Chr17:58694929

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400339470

rs_1555593457

3 SubmittersRCV000570099 RCV002491123 RCV002526801

NM_032043.3(BRIP1):c.2627G>A (p.Ser876Asn)

SNV
Germline

Chr17:61686114

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690468

rs_750961319

3 SubmittersRCV000565343 RCV001300400

NM_058216.3(RAD51C):c.190A>G (p.Ile64Val)

SNV
Germline

Chr17:58694975

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400339873

rs_770335248

4 SubmittersRCV000561797 RCV001365697 RCV004721459

NM_058216.3(RAD51C):c.323A>G (p.Asp108Gly)

SNV
Germline

Chr17:58695108

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400341227

rs_1555593745

6 SubmittersRCV000575198 RCV000648237 RCV001357413 RCV003139870

NM_058216.3(RAD51C):c.572-1G>C

SNV
Germline

Chr17:58703195

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA400348971

rs_1413872299

8 SubmittersRCV000562532 RCV000755025 RCV001068269 RCV005600989

NM_058216.3(RAD51C):c.688C>T (p.Leu230Phe)

SNV
Germline

Chr17:58703312

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA8677292

rs_751528808

5 SubmittersRCV000569116 RCV000801585 RCV005623342 RCV005027664

NM_032043.3(BRIP1):c.2225A>C (p.Tyr742Ser)

SNV
Germline

Chr17:61744464

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA400482924

rs_1555591351

5 SubmittersRCV000573545 RCV000801819 RCV000759707 RCV005604793

NM_058216.3(RAD51C):c.677T>C (p.Leu226Pro)

SNV
Germline

Chr17:58703301

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400349955

rs_1225858240

7 SubmittersRCV000571191 RCV000759335 RCV001068731 RCV005248337

NM_058216.3(RAD51C):c.703A>G (p.Lys235Glu)

SNV
Germline

Chr17:58703327

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400350161

rs_1555597252

2 SubmittersRCV000570909 RCV003767204

NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter)

SNV
Germline

Chr17:58732536

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400365176

rs_1555605103

5 SubmittersRCV000568386 RCV001036845 RCV004569284

NM_032043.3(BRIP1):c.1894A>G (p.Thr632Ala)

SNV
Germline

Chr17:61780302

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400479308

rs_1555602149

2 SubmittersRCV000576027 RCV001858189

NM_058216.3(RAD51C):c.838-2A>G

SNV
Germline

Chr17:58720744

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400359301

rs_748589398

5 SubmittersRCV000561624 RCV000648242 RCV002259351 RCV003470841

NM_032043.3(BRIP1):c.3350C>T (p.Ser1117Leu)

SNV
Germline

Chr17:61683696

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA400478921

rs_1555572672

4 SubmittersRCV000574108 RCV000702483 RCV003478252 RCV003994022

NM_032043.3(BRIP1):c.1474-1G>A

SNV
Germline

Chr17:61784425

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400481794

rs_1555603638

7 SubmittersRCV000569916 RCV000780062 RCV000758988 RCV001867860 RCV005430367

NM_032043.3(BRIP1):c.2905+3A>G

SNV
Germline

Chr17:61685833

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400481078

rs_1555573247

5 SubmittersRCV000570919 RCV001210391 RCV003476330 RCV003478233

NM_032043.3(BRIP1):c.1412A>G (p.Asn471Ser)

SNV
Germline

Chr17:61793658

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400482165

rs_1555605906

2 SubmittersRCV000563546 RCV001372997

NM_032043.3(BRIP1):c.3026G>A (p.Gly1009Glu)

SNV
Germline

Chr17:61684020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400479966

rs_1555572908

3 SubmittersRCV000569183 RCV000696070 RCV004777742

NM_032043.3(BRIP1):c.2905+4T>C

SNV
Germline

Chr17:61685832

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690444

rs_373835270

5 SubmittersRCV000565993 RCV000636100 RCV001571712 RCV005600999

NM_032043.3(BRIP1):c.2379+1G>A

SNV
Germline

Chr17:61743012

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482519

rs_1555590286

5 SubmittersRCV000563402 RCV001865709 RCV003335483

NM_032043.3(BRIP1):c.1972C>A (p.Arg658=)

SNV
Germline

Chr17:61776526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501150197

rs_786203170

5 SubmittersRCV000572359 RCV000589277 RCV000912673 RCV004787916

NM_032043.3(BRIP1):c.721T>C (p.Ser241Pro)

SNV
Germline

Chr17:61808664

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690852

rs_771542690

5 SubmittersRCV000561737 RCV001194705 RCV001227266

NM_032043.3(BRIP1):c.1953T>C (p.Ile651=)

SNV
Germline

Chr17:61776545

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690615

rs_754400631

5 SubmittersRCV000567916 RCV000781174 RCV001443618 RCV004797836 RCV004791589

NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)

SNV
Germline

Chr17:61776557

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400478637

rs_786202760

9 SubmittersRCV000565890 RCV000657705 RCV000690470 RCV001526941 RCV001783077 RCV003335517

NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter)

SNV
Germline

Chr17:61793656

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482158

rs_1555605902

4 SubmittersRCV000694857 RCV000575093 RCV003335480

NM_032043.3(BRIP1):c.1340+1G>A

SNV
Germline

Chr17:61799099

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483267

rs_1555607022

6 SubmittersRCV000566442 RCV000636084 RCV000990019 RCV001783071 RCV003987606

NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter)

SNV
Germline

Chr17:61799146

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483503

rs_1555607070

3 SubmittersRCV000566907 RCV003767220

NM_032043.3(BRIP1):c.484C>A (p.Arg162=)

SNV
Germline

Chr17:61849152

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501150872

rs_747604569

5 SubmittersRCV000565098 RCV001530566 RCV000636227 RCV004787904

NM_032043.3(BRIP1):c.305A>G (p.Gln102Arg)

SNV
Germline

Chr17:61857132

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA400485406

rs_1484234707

5 SubmittersRCV000636126 RCV000566912 RCV005357636

NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)

SNV
Germline

Chr17:61859808

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA8690981

rs_575595017

7 SubmittersRCV000636179 RCV000657727 RCV000588194 RCV000568753 RCV003335485

NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)

SNV
Germline

Chr17:61801389

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400484136

rs_1555607749

4 SubmittersRCV000570826 RCV000815867 RCV001280634 RCV003335510

NM_032043.3(BRIP1):c.982T>C (p.Phe328Leu)

SNV
Germline

Chr17:61801411

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400484184

rs_1555607763

2 SubmittersRCV000569097 RCV005223002

NM_032043.3(BRIP1):c.259T>A (p.Cys87Ser)

SNV
Germline

Chr17:61857178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400485515

rs_1555617897

4 SubmittersRCV000564994 RCV000802648 RCV001755930

NM_058216.3(RAD51C):c.53C>T (p.Pro18Leu)

SNV
Germline

Chr17:58692696

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8677132

rs_754498936

3 SubmittersRCV000648267 RCV000566801

NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter)

SNV
Germline

Chr17:58695062

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
RAD51C-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA400340779

rs_1555593670

3 SubmittersRCV000564536 RCV001867866 RCV004527660

NM_058216.3(RAD51C):c.285T>G (p.His95Gln)

SNV
Germline

Chr17:58695070

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400340852

rs_1555593678

3 SubmittersRCV000562407 RCV001244031

NM_058216.3(RAD51C):c.396A>C (p.Thr132=)

SNV
Germline

Chr17:58695181

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677206

rs_766221834

6 SubmittersRCV000565607 RCV000648277 RCV001269242 RCV004767405 RCV005427048

NM_058216.3(RAD51C):c.710G>C (p.Arg237Pro)

SNV
Germline

Chr17:58709863

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677323

rs_370393672

4 SubmittersRCV000573155 RCV000816474 RCV001555922 RCV005248245

NM_058216.3(RAD51C):c.904+1G>T

SNV
Germline

Chr17:58720813

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400359845

rs_1555602159

6 SubmittersRCV000571657 RCV000986014 RCV001047716 RCV003459305

NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met)

SNV
Germline

Chr17:61683353

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292267084

rs_1046992728

4 SubmittersRCV000569978 RCV001055410 RCV000989970

NM_032043.3(BRIP1):c.2472C>T (p.Ala824=)

SNV
Germline

Chr17:61715971

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690524

rs_767666616

6 SubmittersRCV001078779 RCV000574587 RCV000759710 RCV003316734

NM_032043.3(BRIP1):c.1936-1G>A

SNV
Germline

Chr17:61776563

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400478665

rs_1555601204

4 SubmittersRCV000566261 RCV001289543 RCV001858150 RCV001821665

NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter)

SNV
Germline

Chr17:61685874

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA8690445

rs_761639530

2 SubmittersRCV001853824 RCV005430371

NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)

SNV
Germline

Chr17:61685911

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8690450

rs_140233356

5 SubmittersRCV001853825 RCV003335527 RCV005430372 RCV003302896

NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter)

SNV
Germline

Chr17:61861500

Pathogenic

Hereditary cancer-predisposing syndrome
Ovarian cancer
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400486016

rs_1555618727

3 SubmittersRCV001021864 RCV005430369 RCV003316749

NM_000135.4(FANCA):c.427A>T (p.Lys143Ter)

SNV
Germline

Chr16:89810802

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397480839

rs_539460201

2 SubmittersRCV000578451 RCV001231124

NM_024675.4(PALB2):c.3379T>C (p.Cys1127Arg)

SNV
Germline

Chr16:23603641

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Ovarian cancer
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA7963346

rs_767830005

11 SubmittersRCV000579960 RCV000701458 RCV001030414 RCV003153752 RCV005019004 RCV005367434

NM_024675.4(PALB2):c.1684+11A>G

SNV
Germline

Chr16:23634851

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963684

rs_201368043

3 SubmittersRCV000580824 RCV001121720 RCV001860051

NM_007294.4(BRCA1):c.4999A>G (p.Lys1667Glu)

SNV
Germline

Chr17:43067683

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591522

rs_80357204

5 SubmittersRCV000579785 RCV001076926 RCV005357722 RCV001229350

NM_024675.4(PALB2):c.109-12T>A

SNV
Germline

Chr16:23637964

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
PALB2-related cancer predisposition
Fanconi anemia complementation group N

Criteria Provided
Multiple Submitters
No Conflicts

CA7963843

rs_774949203

8 SubmittersRCV000579887 RCV000794723 RCV001030120 RCV005357727 RCV003133384

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
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10599866

rs_1289961661

7 SubmittersRCV000579920 RCV001302591 RCV003338671 RCV005357721

NM_058216.3(RAD51C):c.341G>T (p.Gly114Val)

SNV
Germline

Chr17:58695126

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400341425

rs_1555593767

4 SubmittersRCV000580016 RCV001195015 RCV001853889 RCV005248348

NM_058216.3(RAD51C):c.325G>T (p.Asp109Tyr)

SNV
Germline

Chr17:58695110

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8677197

rs_778313181

4 SubmittersRCV000579692 RCV002529109 RCV005231118

NM_024675.4(PALB2):c.2996+14T>G

SNV
Germline

Chr16:23622955

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
PALB2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA621661650

rs_1407045774

4 SubmittersRCV000583916 RCV001116751 RCV002061896 RCV005357760

NM_024675.4(PALB2):c.303T>G (p.Asp101Glu)

SNV
Germline

Chr16:23636243

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA395138797

rs_1417779335

5 SubmittersRCV000583166 RCV001800806 RCV003133386 RCV005019008

NM_058216.3(RAD51C):c.244C>T (p.His82Tyr)

SNV
Germline

Chr17:58695029

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Fanconi anemia complementation group O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400340328

rs_1555593593

6 SubmittersRCV000584649 RCV001798906 RCV001853939 RCV003321690

NM_032043.3(BRIP1):c.2493-11A>G

SNV
Germline

Chr17:61693523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292270156

rs_890923836

5 SubmittersRCV000581242 RCV002061781 RCV001704691 RCV004787984

NM_032043.3(BRIP1):c.1691T>C (p.Ile564Thr)

SNV
Germline

Chr17:61780943

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292282224

rs_755635967

3 SubmittersRCV000581220 RCV000686260

NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)

SNV
Germline

Chr17:61801267

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA292286062

rs_1028347439

7 SubmittersRCV000581764 RCV001234227 RCV001783084 RCV003336067

NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg)

SNV
Germline

Chr17:43082550

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA059655

rs_80356916

8 SubmittersRCV000584590 RCV001251289 RCV001284545 RCV001340130 RCV003153756 RCV002250663 RCV005367436

NM_058216.3(RAD51C):c.-19G>T

SNV
Germline

Chr17:58692625

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA8677108

rs_375889604

3 SubmittersRCV000584724 RCV000614271 RCV001860097

NM_058216.3(RAD51C):c.448G>A (p.Gly150Arg)

SNV
Germline

Chr17:58696736

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA292050288

rs_553112850

5 SubmittersRCV000582586 RCV000648245 RCV004568297

NM_058216.3(RAD51C):c.905-5C>G

SNV
Germline

Chr17:58724035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658684136

rs_371968149

5 SubmittersRCV000582284 RCV001215808 RCV003317291

NM_058216.3(RAD51C):c.435A>G (p.Pro145=)

SNV
Germline

Chr17:58696723

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292050269

rs_555235745

7 SubmittersRCV000581354 RCV000599947 RCV000648279 RCV001122910 RCV001800807

NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln)

SNV
Germline

Chr17:61683771

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400479077

rs_587780830

5 SubmittersRCV000581888 RCV000636141 RCV005235441 RCV004722954

NM_032043.3(BRIP1):c.1725A>G (p.Lys575=)

SNV
Germline

Chr17:61780909

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501150511

rs_1555602537

3 SubmittersRCV000583955 RCV001755972 RCV001853913

NM_032043.3(BRIP1):c.1474-10T>C

SNV
Germline

Chr17:61784434

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658684163

rs_1555603645

2 SubmittersRCV000583825 RCV002530793

NM_032043.3(BRIP1):c.1140+1G>A

SNV
Germline

Chr17:61801252

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483848

rs_1555607628

4 SubmittersRCV000583292 RCV000636063 RCV004568292

NM_032043.3(BRIP1):c.2777C>T (p.Ala926Val)

SNV
Germline

Chr17:61685964

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA400481553

rs_1483709056

4 SubmittersRCV000583724 RCV001227207 RCV005431777

NM_032043.3(BRIP1):c.14G>A (p.Trp5Ter)

SNV
Germline

Chr17:61861526

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400486072

rs_1555618738

2 SubmittersRCV000583347 RCV003767301

NM_058216.3(RAD51C):c.121G>A (p.Val41Met)

SNV
Germline

Chr17:58692764

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400337593

rs_879254131

7 SubmittersRCV000583921 RCV001056321 RCV001770535 RCV001328424 RCV003315439

NM_058216.3(RAD51C):c.404+7T>C

SNV
Germline

Chr17:58695196

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA627144591

rs_1350153132

6 SubmittersRCV000581260 RCV000603566 RCV001128605 RCV001128606

NM_058216.3(RAD51C):c.571+9G>C

SNV
Germline

Chr17:58696868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677260

rs_776730538

3 SubmittersRCV000582239 RCV000877024 RCV005427119

NM_032043.3(BRIP1):c.2576-17T>C

SNV
Germline

Chr17:61686182

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA658684156

rs_1057517647

6 SubmittersRCV000583092 RCV000615869 RCV002061783 RCV004791614 RCV003150285

NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter)

SNV
Germline

Chr17:61744471

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA400482947

rs_1555591361

6 SubmittersRCV000581423 RCV003336071 RCV003767302 RCV005357744

NM_032043.3(BRIP1):c.1940G>A (p.Trp647Ter)

SNV
Germline

Chr17:61776558

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400478643

rs_1555601203

2 SubmittersRCV000584404 RCV005223011

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
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10596579

rs_1555589094

3 SubmittersRCV000585837 RCV000585811 RCV001867901 RCV004948457

NM_058216.3(RAD51C):c.601C>G (p.Leu201Val)

SNV
Germline

Chr17:58703225

Conflicting classifications of pathogenicity

Condition: not provided
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

CA8677280

rs_531838785

8 SubmittersRCV000586663 RCV000776221 RCV000808711 RCV001122911 RCV003482150

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

11 SubmittersRCV000587381 RCV000764121 RCV001018505 RCV001053353 RCV001328037 RCV004002446

NM_000135.4(FANCA):c.778G>A (p.Glu260Lys)

SNV
Germline

Chr16:89803273

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8252812

rs_201992220

4 SubmittersRCV000593561 RCV002483594 RCV001243169

NM_058216.3(RAD51C):c.905-20A>G

SNV
Germline

Chr17:58724020

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA292069093

rs_950351911

6 SubmittersRCV000606113 RCV001190492 RCV002063145 RCV005427140 RCV002498917

NM_032043.3(BRIP1):c.1794+6C>T

SNV
Germline

Chr17:61780834

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658798938

rs_1429375125

3 SubmittersRCV000612963 RCV003767696 RCV004788026

NM_032043.3(BRIP1):c.3710C>A (p.Ser1237Tyr)

SNV
Germline

Chr17:61683336

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400477772

rs_587781819

2 SubmittersRCV000606452 RCV001860262

NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)

SNV
Germline

Chr16:89782912

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252237

rs_755925068

6 SubmittersRCV000625425 RCV001036418 RCV004742539 RCV004975716

NM_000136.3(FANCC):c.346-1G>A

SNV
Germline

Chr9:95172148

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Condition: not provided
FANCC-related disorder
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374338924

rs_1484503633

9 SubmittersRCV000625771 RCV001195046 RCV003411478 RCV001042914 RCV002334038

NM_002875.5(RAD51):c.772G>A (p.Glu258Lys)

SNV
Germline

Chr15:40729632

Likely pathogenic

Fanconi anemia complementation group R

Criteria Provided
Multiple Submitters
No Conflicts

CA391759368

rs_1555429629

2 SubmittersRCV000626039

NM_018062.4(FANCL):c.211C>T (p.Gln71Ter)

SNV
Germline

Chr2:58229819

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347034760

rs_753105795

1 SubmittersRCV000630868

NM_001018115.3(FANCD2):c.864C>T (p.Ser288=)

SNV
Germline

Chr3:10042639

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA2249386

rs_780547790

3 SubmittersRCV000630989 RCV001146798 RCV003953111

NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter)

SNV
Germline

Chr3:10067310

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351738612

rs_1289665675

4 SubmittersRCV000630893 RCV000657573 RCV001784202

NM_001018115.3(FANCD2):c.3494G>A (p.Arg1165Gln)

SNV
Germline

Chr3:10088476

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
Ovarian cancer
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA2250423

rs_549507714

4 SubmittersRCV000630908 RCV002528847 RCV003153771 RCV005027742

NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)

SNV
Germline

Chr6:35455782

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
Fanconi anemia
Condition: not provided
FANCE-related disorder

Criteria Provided
Conflicting Classifications

CA3771372

rs_149097636

5 SubmittersRCV000649010 RCV002256452 RCV002269298 RCV003937954

NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu)

SNV
Germline

Chr6:35466344

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

CA3771765

rs_139547269

4 SubmittersRCV000648999 RCV002257904 RCV002235507

NM_000136.3(FANCC):c.1281C>T (p.Ala427=)

SNV
Germline

Chr9:95111511

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137404

rs_754604606

5 SubmittersRCV000631015 RCV001484609 RCV001169820 RCV002385981

NM_000136.3(FANCC):c.46A>T (p.Met16Leu)

SNV
Germline

Chr9:95249246

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374340454

rs_1390412870

5 SubmittersRCV000630906 RCV003162794 RCV003238790

NM_004629.2(FANCG):c.778-1G>A

SNV
Germline

Chr9:35076871

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA373313323

rs_767518932

2 SubmittersRCV000630841 RCV004568369

NM_000136.3(FANCC):c.1082G>A (p.Arg361Gln)

SNV
Germline

Chr9:95114701

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA5137460

rs_761336987

5 SubmittersRCV000630907 RCV001017222 RCV004588056 RCV005392198

NM_000059.4(BRCA2):c.3323A>C (p.Lys1108Thr)

SNV
Germline

Chr13:32337678

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6940687

rs_765232270

5 SubmittersRCV000637783 RCV003338700 RCV003157798 RCV005357846

NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser)

SNV
Germline

Chr14:45170744

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Premature ovarian failure 15
Spermatogenic failure 28
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7169242

rs_751262177

6 SubmittersRCV000630876 RCV002255480 RCV002469225 RCV002483772 RCV002528846

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 SubmittersRCV000631000 RCV001030553 RCV001797116

NM_020937.4(FANCM):c.59C>G (p.Ser20Cys)

SNV
Germline

Chr14:45136090

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Spermatogenic failure 28
Premature ovarian failure 15

Criteria Provided
Conflicting Classifications

CA7168689

rs_199699785

5 SubmittersRCV000630898 RCV001541811 RCV002255481 RCV005004284

NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)

SNV
Germline

Chr14:45198718

Pathogenic/Likely pathogenic

Fanconi anemia
Malignant germ cell tumor of ovary
Spermatogenic failure 28
Condition: not provided
Familial cancer of breast
Azoospermia
not specified
Hereditary nonpolyposis colorectal carcinoma
Premature ovarian failure 15
Spermatogenic failure 28
Premature ovarian failure 15

Criteria Provided
Multiple Submitters
No Conflicts

CA7170069

rs_144567652

16 SubmittersRCV000630904 RCV000722040 RCV000677277 RCV001531186 RCV001250442 RCV001797115 RCV001821777 RCV002245059 RCV004595521 RCV005010605

NM_020937.4(FANCM):c.5685T>C (p.Cys1895=)

SNV
Germline

Chr14:45196516

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7170038

rs_746870942

4 SubmittersRCV000631029 RCV001662674 RCV002255482 RCV004975732

NM_001113378.2(FANCI):c.157+7A>G

SNV
Germline

Chr15:89258783

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

CA7722500

rs_145165730

2 SubmittersRCV000630935 RCV002492949

NM_001113378.2(FANCI):c.3652-10A>G

SNV
Germline

Chr15:89312894

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA7723819

rs_202231175

3 SubmittersRCV000631035 RCV001121122 RCV003935752

NM_005236.3(ERCC4):c.1812-5T>C

SNV
Germline

Chr16:13937761

Conflicting classifications of pathogenicity

Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Xeroderma pigmentosum
Condition: not provided
Inborn genetic diseases
ERCC4-related disorder

Criteria Provided
Conflicting Classifications

CA7910562

rs_2020952

8 SubmittersRCV000651479 RCV001788310 RCV000989534 RCV002257913 RCV005231238 RCV002531975 RCV003965394

NM_001113378.2(FANCI):c.1703A>G (p.His568Arg)

SNV
Germline

Chr15:89285100

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA7723130

rs_555480773

3 SubmittersRCV000631005 RCV001115981 RCV003980218

NM_001113378.2(FANCI):c.1939T>C (p.Leu647=)

SNV
Germline

Chr15:89291661

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
FANCI-related disorder
Fanconi anemia complementation group I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7723221

rs_150231327

6 SubmittersRCV000630965 RCV001821779 RCV003945584 RCV001119037 RCV005411509

NM_005236.3(ERCC4):c.714G>A (p.Lys238=)

SNV
Germline

Chr16:13928157

Conflicting classifications of pathogenicity

Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7910255

rs_780166871

2 SubmittersRCV000651473 RCV004692038

NM_032444.4(SLX4):c.630A>G (p.Leu210=)

SNV
Germline

Chr16:3606604

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866806

rs_746155183

2 SubmittersRCV000631023 RCV001120032

NM_032444.4(SLX4):c.423G>A (p.Gly141=)

SNV
Germline

Chr16:3608542

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866878

rs_111405249

2 SubmittersRCV000630990 RCV005019043

NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr)

SNV
Germline

Chr16:23629887

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA279492499

rs_925044785

8 SubmittersRCV000635807 RCV001014983 RCV001030292 RCV003133422

NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)

SNV
Germline

Chr16:89745004

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397485658

rs_1555536390

3 SubmittersRCV000630873 RCV001256405

NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter)

SNV
Germline

Chr16:89749781

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397486523

rs_1166286386

4 SubmittersRCV000630824 RCV001256513

NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)

SNV
Germline

Chr16:89769951

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251738

rs_138248569

9 SubmittersRCV000630849 RCV001821773 RCV001271599 RCV002461940

NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)

SNV
Germline

Chr16:89770215

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251806

rs_137913973

7 SubmittersRCV000630862 RCV001292817 RCV004975720 RCV003478349

NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)

SNV
Germline

Chr16:3594476

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group P
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7866283

rs_760126773

4 SubmittersRCV000630869 RCV001788304 RCV003126875

NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)

SNV
Germline

Chr16:89740078

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases
FANCA-related disorder
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8250924

rs_142919010

9 SubmittersRCV000630946 RCV002261136 RCV002528848 RCV004742542 RCV001274554

NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)

SNV
Germline

Chr16:89742832

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251008

rs_745665658

9 SubmittersRCV000630834 RCV001121952 RCV003935751 RCV001821772 RCV003478348

NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)

SNV
Germline

Chr16:89742928

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251038

rs_200713354

7 SubmittersRCV000630847 RCV001121953 RCV003237964

NM_000135.4(FANCA):c.3514-4A>G

SNV
Germline

Chr16:89745075

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251107

rs_149388130

5 SubmittersRCV000630983 RCV001293880 RCV001821781 RCV003478351

NM_000135.4(FANCA):c.2029G>A (p.Val677Met)

SNV
Germline

Chr16:89771800

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251928

rs_767396631

6 SubmittersRCV000630911 RCV001756040 RCV001271605

NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)

SNV
Germline

Chr16:89773381

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8251971

rs_142217479

7 SubmittersRCV000630927 RCV001771851 RCV001120168 RCV003945583

NM_000135.4(FANCA):c.1143G>A (p.Thr381=)

SNV
Germline

Chr16:89792009

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252499

rs_1800331

3 SubmittersRCV000631010 RCV001120560 RCV005338272

NM_000135.4(FANCA):c.189+7G>A

SNV
Germline

Chr16:89815870

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8253148

rs_369985388

3 SubmittersRCV000631007 RCV001120657 RCV003892414

NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)

SNV
Germline

Chr16:89761949

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8251481

rs_755922289

11 SubmittersRCV000630961 RCV000666705 RCV001569733

NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)

SNV
Germline

Chr17:43067626

Conflicting classifications of pathogenicity

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
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591407

rs_1555579648

8 SubmittersRCV000765358 RCV001076299 RCV005019058 RCV000637812 RCV005231210 RCV001186735

NM_058216.3(RAD51C):c.19C>A (p.Arg7Ser)

SNV
Germline

Chr17:58692662

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400336232

rs_759759863

5 SubmittersRCV000648251 RCV001592805 RCV001013997 RCV005019085

NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter)

SNV
Germline

Chr17:61686152

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400481991

rs_1555573497

4 SubmittersRCV000636183 RCV001525099 RCV003336108

NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala)

SNV
Germline

Chr17:43092427

Conflicting classifications of pathogenicity

Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595778

rs_1555588389

4 SubmittersRCV000764120 RCV000637337 RCV003157747

NM_032043.3(BRIP1):c.628-10T>A

SNV
Germline

Chr17:61808767

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690874

rs_375646029

3 SubmittersRCV000636216 RCV001180008 RCV001394030

NM_058216.3(RAD51C):c.1064G>A (p.Cys355Tyr)

SNV
Germline

Chr17:58734155

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400366155

rs_1555605562

3 SubmittersRCV000648239 RCV001009802

NM_032043.3(BRIP1):c.1736G>A (p.Arg579His)

SNV
Germline

Chr17:61780898

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690680

rs_768224857

4 SubmittersRCV000636129 RCV000775419 RCV005000414

NM_032043.3(BRIP1):c.1340+9A>T

SNV
Germline

Chr17:61799091

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690761

rs_376487588

3 SubmittersRCV000636190 RCV000758987 RCV004788056

NM_032043.3(BRIP1):c.1328G>A (p.Cys443Tyr)

SNV
Germline

Chr17:61799112

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400483360

rs_1555607035

3 SubmittersRCV000636064 RCV001011049 RCV003441985

NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter)

SNV
Germline

Chr17:61849188

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400484474

rs_762701532

3 SubmittersRCV000636081 RCV004025468 RCV003336103

NM_032043.3(BRIP1):c.380-6T>C

SNV
Germline

Chr17:61849262

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8690938

rs_780921390

6 SubmittersRCV000636207 RCV000990038 RCV001584468 RCV001185471 RCV004526727

NM_032043.3(BRIP1):c.2535G>A (p.Val845=)

SNV
Germline

Chr17:61693470

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501144666

rs_1555574772

3 SubmittersRCV000636115 RCV002458022 RCV004788055

NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter)

SNV
Germline

Chr17:61693488

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Gastric cancer
Familial cancer of breast

Criteria Provided
Single Submitter

CA400482454

rs_1555574803

3 SubmittersRCV000636075 RCV003162845 RCV003336100

NM_032043.3(BRIP1):c.507G>T (p.Gln169His)

SNV
Germline

Chr17:61849129

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400484345

rs_876660937

4 SubmittersRCV000636164 RCV001775935 RCV002343241 RCV003451522

NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)

SNV
Germline

Chr17:61859898

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485866

rs_373104267

6 SubmittersRCV000636074 RCV002289938 RCV001182086

NM_058216.3(RAD51C):c.245A>G (p.His82Arg)

SNV
Germline

Chr17:58695030

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400340343

rs_1555593600

5 SubmittersRCV000648226 RCV001191945 RCV003465410

NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter)

SNV
Germline

Chr17:58703213

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400349143

rs_1555597094

2 SubmittersRCV000648231 RCV003465411

NM_032043.3(BRIP1):c.3310G>T (p.Glu1104Ter)

SNV
Germline

Chr17:61683736

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400479008

rs_1555572698

1 SubmittersRCV000636150

NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter)

SNV
Germline

Chr17:61683816

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400479223

rs_1420431000

4 SubmittersRCV000636085 RCV000776642 RCV003471996

NM_032043.3(BRIP1):c.2574T>C (p.Ser858=)

SNV
Germline

Chr17:61693431

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501144547

rs_1555574712

2 SubmittersRCV000636119 RCV004948500

NM_032043.3(BRIP1):c.1140+3G>A

SNV
Germline

Chr17:61801250

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA626807418

rs_1322162359

3 SubmittersRCV001017433 RCV000636133 RCV004025470

NM_032043.3(BRIP1):c.919-10T>G

SNV
Germline

Chr17:61801484

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690825

rs_748497834

4 SubmittersRCV000636191 RCV000775424 RCV003314630 RCV003471997

NM_032043.3(BRIP1):c.627A>G (p.Lys209=)

SNV
Germline

Chr17:61847101

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501150600

rs_1555615717

3 SubmittersRCV000636149 RCV001025073 RCV004025471

NM_000135.4(FANCA):c.4261-2A>C

SNV
Germline

Chr16:89738710

Pathogenic

Fanconi anemia complementation group A
Neuroblastoma
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA286613931

rs_915983602

5 SubmittersRCV000656368 RCV000656370 RCV001855345

NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe)

SNV
Unknown

Chr16:89764940

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Neuroblastoma

No Assertion Criteria Provided

CA397438141

rs_1216426444

1 SubmittersRCV000656367 RCV000656369

NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)

SNV
Germline

Chr16:23603579

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided
Malignant tumor of breast
PALB2-related disorder
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA395138136

rs_1555457867

10 SubmittersRCV001213219 RCV000657758 RCV004526734 RCV004740390 RCV002458171 RCV005019096

NM_032043.3(BRIP1):c.3340C>T (p.Gln1114Ter)

SNV
Germline

Chr17:61683706

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400478943

rs_1555572681

2 SubmittersRCV000657729 RCV002534259

NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter)

SNV
Germline

Chr17:61847162

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400483082

rs_1555615763

3 SubmittersRCV000657683 RCV002343402 RCV003767890

NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly)

SNV
Germline

Chr17:58692647

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400336071

rs_758029117

7 SubmittersRCV000772906 RCV000663126 RCV000986010 RCV001861727 RCV003316791

NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)

SNV
Germline

Chr17:61793710

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Ovarian cancer
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482282

rs_1555605955

5 SubmittersRCV002386137 RCV005430381 RCV003325510 RCV003316792

NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)

SNV
Germline

Chr9:95107182

Pathogenic

Fanconi anemia complementation group C
Fanconi anemia
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374106036

rs_1410356625

8 SubmittersRCV000666989 RCV001381636 RCV002388175 RCV004723049

NM_000136.3(FANCC):c.1073-1G>C

SNV
Germline

Chr9:95114711

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374108076

rs_1554830249

3 SubmittersRCV000670553 RCV001868245 RCV004619375

NM_000136.3(FANCC):c.3G>T (p.Met1Ile)

SNV
Germline

Chr9:95249289

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374340546

rs_1368374192

2 SubmittersRCV001021633 RCV000673122

NM_000136.3(FANCC):c.1534-1G>T

SNV
Germline

Chr9:95101851

Likely pathogenic

Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA374104872

rs_1364238660

2 SubmittersRCV000672742 RCV002388182

NM_000136.3(FANCC):c.1534-2A>G

SNV
Unknown

Chr9:95101852

Likely pathogenic

Fanconi anemia complementation group C

No Assertion Criteria Provided

CA374104875

rs_1554827166

1 SubmittersRCV000668308

NM_000136.3(FANCC):c.1072+1G>A

SNV
Germline

Chr9:95117314

Likely pathogenic

Fanconi anemia complementation group C
Fanconi anemia

Criteria Provided
Single Submitter

CA374108087

rs_1554830789

2 SubmittersRCV000674613 RCV002531358

NM_000136.3(FANCC):c.996+1G>A

SNV
Germline

Chr9:95125085

Likely pathogenic

Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA374108719

rs_370510954

6 SubmittersRCV000671064 RCV003303098 RCV002532107

NM_000136.3(FANCC):c.843+1G>C

SNV
Germline

Chr9:95135345

Likely pathogenic

Fanconi anemia complementation group C
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA374109167

rs_587779909

3 SubmittersRCV000673380 RCV001861820

NM_000136.3(FANCC):c.-79+1G>A

SNV
Germline

Chr9:95317525

Conflicting classifications of pathogenicity

Fanconi anemia complementation group C
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA589497381

rs_1228886763

3 SubmittersRCV000669102 RCV002531216

NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter)

SNV
Unknown

Chr9:95111551

Likely pathogenic

Fanconi anemia complementation group C

No Assertion Criteria Provided

CA374107393

rs_200719554

1 SubmittersRCV000672089

NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter)

SNV
Unknown

Chr9:95111610

Likely pathogenic

Fanconi anemia complementation group C

No Assertion Criteria Provided

CA374107529

rs_1554829555

1 SubmittersRCV000670114

NM_000136.3(FANCC):c.1155-1G>A

SNV
Germline

Chr9:95111638

Likely pathogenic

Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA374107588

rs_1554829575

2 SubmittersRCV000666931 RCV004026095

NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)

SNV
Germline

Chr16:89738944

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8250693

rs_745882980

10 SubmittersRCV000670597 RCV000801328

NM_000135.4(FANCA):c.3935-1G>T

SNV
Germline

Chr16:89739554

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397484878

rs_1555533693

2 SubmittersRCV000671768 RCV001383939

NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)

SNV
Germline

Chr16:89738895

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA286614275

rs_940187828

3 SubmittersRCV000665549 RCV001229363

NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)

SNV
Germline

Chr16:89740015

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8250914

rs_753700179

8 SubmittersRCV000672199 RCV001222479

NM_000135.4(FANCA):c.3934+2T>C

SNV
Germline

Chr16:89739992

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8250909

rs_771775516

6 SubmittersRCV000669249 RCV003767972 RCV004702288

NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)

SNV
Germline

Chr16:89740044

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA286617817

rs_986710868

3 SubmittersRCV000674049 RCV002532156

NM_000135.4(FANCA):c.3626+1G>T

SNV
Unknown

Chr16:89744958

Likely pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397485566

rs_34885858

1 SubmittersRCV000668012

NM_000135.4(FANCA):c.3348+1G>A

SNV
Germline

Chr16:89748658

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
FANCA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8251231

rs_751266148

5 SubmittersRCV000668641 RCV001246767 RCV001270082 RCV003420183

NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu)

SNV
Germline

Chr16:89749805

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397486564

rs_1429943036

2 SubmittersRCV000672291

NM_000135.4(FANCA):c.2738A>C (p.His913Pro)

SNV
Germline

Chr16:89764930

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397438104

rs_1302083447

7 SubmittersRCV000671893 RCV000796523 RCV001816676

NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)

SNV
Germline

Chr16:89744993

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397485642

rs_1381684916

2 SubmittersRCV000671105

NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter)

SNV
Unknown

Chr16:89746857

Likely pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397486097

rs_1439817346

1 SubmittersRCV000673853

NM_000135.4(FANCA):c.2982-1G>C

SNV
Germline

Chr16:89752223

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397427604

rs_1555540076

4 SubmittersRCV000669707 RCV000688900

NM_000135.4(FANCA):c.2981+1G>A

SNV
Unknown

Chr16:89758576

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397430866

rs_1555542860

2 SubmittersRCV000668546

NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)

SNV
Germline

Chr16:89770179

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA397444996

rs_1490352414

5 SubmittersRCV000672136 RCV001797781

NM_000135.4(FANCA):c.2222+1G>C

SNV
Germline

Chr16:89770563

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397446969

rs_775388912

2 SubmittersRCV000670106

NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)

SNV
Germline

Chr16:89758688

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA286549223

rs_927630499

5 SubmittersRCV000667724 RCV002530721

NM_000135.4(FANCA):c.1715+1G>T

SNV
Germline

Chr16:89779868

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397455763

rs_1555552506

4 SubmittersRCV000673486 RCV003768006

NM_000135.4(FANCA):c.2853-2A>C

SNV
Germline

Chr16:89758707

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA286549237

rs_947311062

6 SubmittersRCV000673183 RCV001240902 RCV001816680

NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys)

SNV
Germline

Chr16:89792516

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8252555

rs_750257902

4 SubmittersRCV000670612 RCV003478394 RCV002532102

NM_000135.4(FANCA):c.2778+83C>G

SNV
Germline

Chr16:89764807

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8251546

rs_750997715

5 SubmittersRCV000667523 RCV002532064

NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)

SNV
Germline

Chr16:89767213

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397440787

rs_1247378731

5 SubmittersRCV000672395 RCV001384720

NM_000135.4(FANCA):c.2151+2T>C

SNV
Germline

Chr16:89771676

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA286566397

rs_937874201

4 SubmittersRCV000670390 RCV001861792

NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)

SNV
Germline

Chr16:89771722

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397448200

rs_1555548512

4 SubmittersRCV000667754 RCV000822096

NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro)

SNV
Germline

Chr16:89771778

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA8251924

rs_762526878

2 SubmittersRCV000672786

NM_000135.4(FANCA):c.2015-1G>A

SNV
Unknown

Chr16:89771815

Likely pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397448771

rs_1555548632

1 SubmittersRCV000672065

NM_000135.4(FANCA):c.1901-1G>A

SNV
Germline

Chr16:89773385

Likely pathogenic

Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Single Submitter

CA397450471

rs_1485075318

2 SubmittersRCV000669366 RCV003237984

NM_000135.4(FANCA):c.597-1G>C

SNV
Germline

Chr16:89805393

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8252884

rs_147945881

5 SubmittersRCV000670450 RCV001242661

NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)

SNV
Germline

Chr16:89778948

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397454728

rs_753980264

6 SubmittersRCV000674201 RCV001069523 RCV003222094

NM_000135.4(FANCA):c.1475A>G (p.His492Arg)

SNV
Germline

Chr16:89783098

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397458290

rs_925457555

3 SubmittersRCV000669501

NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)

SNV
Germline

Chr16:89808341

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397479336

rs_758528624

4 SubmittersRCV000669575 RCV001584542

NM_000135.4(FANCA):c.1359+1G>C

SNV
Germline

Chr16:89791402

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397463556

rs_1555561294

4 SubmittersRCV000672477 RCV002532125

NM_000135.4(FANCA):c.522+1G>T

SNV
Germline

Chr16:89810706

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397480630

rs_1365019056

2 SubmittersRCV000674016 RCV003523013

NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)

SNV
Germline

Chr16:89791458

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397463962

rs_1060501879

5 SubmittersRCV000672654 RCV001378203

NM_000135.4(FANCA):c.190-2A>T

SNV
Germline

Chr16:89814615

Pathogenic

Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8253122

rs_183350210

4 SubmittersRCV000670932 RCV001256211 RCV001868249

NM_000135.4(FANCA):c.80-1G>T

SNV
Germline

Chr16:89815987

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397483824

rs_751076878

2 SubmittersRCV000669616 RCV005091943

NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)

SNV
Germline

Chr16:89791495

Pathogenic

Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Single Submitter

CA8252420

rs_774026652

3 SubmittersRCV000674566 RCV001683628

NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)

SNV
Germline

Chr16:89816551

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia
FANCA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8253262

rs_761341952

16 SubmittersRCV000665314 RCV001509539 RCV000812393 RCV004742561

NM_000135.4(FANCA):c.3G>T (p.Met1Ile)

SNV
Unknown

Chr16:89816613

Likely pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397484665

rs_1555581729

1 SubmittersRCV000671694

NM_000135.4(FANCA):c.793-3C>G

SNV
Germline

Chr16:89799641

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA8252773

rs_749688050

3 SubmittersRCV000670676 RCV001204945

NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)

SNV
Germline

Chr16:89803333

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397476449

rs_1184639006

4 SubmittersRCV000666393 RCV002530683

NM_000135.4(FANCA):c.523-1G>T

SNV
Germline

Chr16:89808368

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Single Submitter

CA397479486

rs_1477653630

4 SubmittersRCV000666294 RCV001379949 RCV003151132

NM_000135.4(FANCA):c.189+1G>A

SNV
Germline

Chr16:89815876

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA286612153

rs_891323617

6 SubmittersRCV000674205 RCV000996416 RCV001377209

NM_000135.4(FANCA):c.2T>C (p.Met1Thr)

SNV
Germline

Chr16:89816614

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8253279

rs_769479800

12 SubmittersRCV000669920 RCV000699054 RCV001509540

NM_000135.4(FANCA):c.2T>A (p.Met1Lys)

SNV
Germline

Chr16:89816614

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397484674

rs_769479800

3 SubmittersRCV000672220 RCV005240441

NM_000135.4(FANCA):c.1A>T (p.Met1Leu)

SNV
Germline

Chr16:89816615

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397484677

rs_772751654

5 SubmittersRCV000669511 RCV001387726

NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr)

SNV
Germline

Chr16:89739225

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397484514

rs_1555533313

2 SubmittersRCV000669932

NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)

SNV
Germline

Chr16:89740044

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397485002

rs_986710868

4 SubmittersRCV000674926 RCV002531365

NM_000135.4(FANCA):c.3828+1G>A

SNV
Germline

Chr16:89740803

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397485123

rs_1432988639

3 SubmittersRCV000671445 RCV001855559

NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln)

SNV
Germline

Chr16:89749730

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397486419

rs_1555538571

4 SubmittersRCV000668167 RCV004597855

NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)

SNV
Germline

Chr16:89761961

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8251487

rs_745568821

6 SubmittersRCV000674491 RCV000817200 RCV003163071

NM_000135.4(FANCA):c.2778+2T>C

SNV
Germline

Chr16:89764888

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397437779

rs_1458001028

4 SubmittersRCV000671287 RCV001235351 RCV004812349

NM_000135.4(FANCA):c.2602-2A>T

SNV
Germline

Chr16:89765068

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397438951

rs_1555545592

3 SubmittersRCV000671414 RCV002531281

NM_000135.4(FANCA):c.894-2A>G

SNV
Germline

Chr16:89796020

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA286597120

rs_976556567

5 SubmittersRCV000673435 RCV002255501

NM_000135.4(FANCA):c.827-1G>C

SNV
Unknown

Chr16:89799233

Likely pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397473213

rs_753728435

1 SubmittersRCV000671987

NM_000135.4(FANCA):c.710-1G>C

SNV
Unknown

Chr16:89803342

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397476535

rs_1388128874

2 SubmittersRCV000673656

NM_000135.4(FANCA):c.523-2A>G

SNV
Germline

Chr16:89808369

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397479497

rs_746518509

2 SubmittersRCV000671161 RCV001379453

NM_000135.4(FANCA):c.283+1G>T

SNV
Germline

Chr16:89814519

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397482410

rs_1232171121

3 SubmittersRCV000671233 RCV000806911

NM_000135.4(FANCA):c.100A>T (p.Lys34Ter)

SNV
Germline

Chr16:89815966

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8253174

rs_772858764

5 SubmittersRCV000668648 RCV001211107

NM_000135.4(FANCA):c.79+1G>C

SNV
Unknown

Chr16:89816536

Likely pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397484370

rs_1483028018

1 SubmittersRCV000672909

NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)

SNV
Germline

Chr16:89816605

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397484637

rs_1484087361

7 SubmittersRCV000666866 RCV001387348

NM_000135.4(FANCA):c.1A>C (p.Met1Leu)

SNV
Germline

Chr16:89816615

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8253280

rs_772751654

6 SubmittersRCV000668991 RCV001861771 RCV004721540

NM_000135.4(FANCA):c.4260+2T>A

SNV
Unknown

Chr16:89738880

Likely pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397483175

rs_1555532943

1 SubmittersRCV000673192

NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)

SNV
Germline

Chr16:89738910

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Microcephaly
Fanconi anemia
not specified
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA8250681

rs_201494304

7 SubmittersRCV000669832 RCV001252842 RCV001246136 RCV003155269 RCV003153795

NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)

SNV
Germline

Chr16:89748691

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8251236

rs_777825824

6 SubmittersRCV000671214 RCV001348026 RCV004742564

NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)

SNV
Germline

Chr16:89749806

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
FANCA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8251314

rs_753063086

9 SubmittersRCV000670742 RCV000809264 RCV003478395 RCV003892520

NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)

SNV
Germline

Chr16:89765029

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
FANCA-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8251606

rs_372254398

14 SubmittersRCV000671284 RCV000803258 RCV004742565 RCV003478396

NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)

SNV
Germline

Chr16:89767208

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397440749

rs_1173704265

5 SubmittersRCV000671953 RCV001047569 RCV001816677

NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)

SNV
Germline

Chr16:89771803

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397448720

rs_1448463647

5 SubmittersRCV000674289 RCV001055356

NM_000135.4(FANCA):c.1901-2A>G

SNV
Germline

Chr16:89773386

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397450478

rs_1555549535

3 SubmittersRCV000669408 RCV001868230

NM_000135.4(FANCA):c.1777-1G>C

SNV
Germline

Chr16:89778851

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8252071

rs_755104393

6 SubmittersRCV000665345 RCV001054905

NM_000135.4(FANCA):c.1776+7A>G

SNV
Germline

Chr16:89778936

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA658823882

rs_1555552070

3 SubmittersRCV000671565 RCV001756137 RCV003523012

NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys)

SNV
Germline

Chr16:89783063

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA286579145

rs_200291237

5 SubmittersRCV000665582 RCV001041382

NM_000135.4(FANCA):c.1470+1G>A

SNV
Unknown

Chr16:89784853

Likely pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397459560

rs_1555556175

1 SubmittersRCV000667155

NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter)

SNV
Germline

Chr16:89784946

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397460165

rs_1438828232

5 SubmittersRCV000667535 RCV001868216

NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)

SNV
Germline

Chr16:89791459

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8252408

rs_148473140

7 SubmittersRCV000671453 RCV000805493 RCV003478397

NM_000135.4(FANCA):c.1006+1G>T

SNV
Germline

Chr16:89795905

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397469751

rs_1555564436

2 SubmittersRCV000672458 RCV001203018

NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)

SNV
Germline

Chr16:89799203

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
FANCA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA397473015

rs_1291524243

10 SubmittersRCV000668057 RCV000813603 RCV001092317 RCV004742563

NM_000135.4(FANCA):c.596+2T>C

SNV
Germline

Chr16:89808292

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397479098

rs_1555573118

4 SubmittersRCV000674412 RCV001861842

NM_000135.4(FANCA):c.190-1G>T

SNV
Germline

Chr16:89814614

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397482661

rs_765277254

3 SubmittersRCV000664959 RCV001855434

NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)

SNV
Germline

Chr16:89815903

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397483293

rs_1555580427

3 SubmittersRCV000665360 RCV001387347

NM_018062.4(FANCL):c.692-2A>G

SNV
Germline

Chr2:58163519

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA346936077

rs_1558737575

1 SubmittersRCV000690372

NM_018062.4(FANCL):c.273+1G>A

SNV
Germline

Chr2:58226727

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group L

Criteria Provided
Multiple Submitters
No Conflicts

CA347034598

rs_144729980

3 SubmittersRCV000686056 RCV003459665

NM_001018115.3(FANCD2):c.2068G>A (p.Asp690Asn)

SNV
Germline

Chr3:10064775

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA2249956

rs_534038231

3 SubmittersRCV000685083 RCV002499214 RCV003153799

NM_001018115.3(FANCD2):c.491+1G>A

SNV
Germline

Chr3:10036340

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA70022768

rs_943009372

6 SubmittersRCV000699836 RCV001194902 RCV003223671

NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)

SNV
Germline

Chr6:35458438

Pathogenic/Likely pathogenic

Fanconi anemia complementation group E
Condition: not provided
FANCE-related disorder
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA3771596

rs_775076977

8 SubmittersRCV000686258 RCV001816698 RCV004751661 RCV004768556

NM_018062.4(FANCL):c.216+1G>T

SNV
Germline

Chr2:58229813

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347034744

rs_1205006300

1 SubmittersRCV000705984

NM_018062.4(FANCL):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:58241312

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group L
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA1670856

rs_761291501

8 SubmittersRCV000686799 RCV001090968 RCV001729683 RCV001816699

NM_004629.2(FANCG):c.908T>C (p.Leu303Pro)

SNV
Germline

Chr9:35076740

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA373312840

rs_1563986439

3 SubmittersRCV000692482 RCV001194955

NM_004629.2(FANCG):c.652C>T (p.Gln218Ter)

SNV
Germline

Chr9:35077096

Pathogenic

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA373313793

rs_1209807088

4 SubmittersRCV000699360 RCV002060878 RCV001194951

NM_020937.4(FANCM):c.1237T>C (p.Tyr413His)

SNV
Germline

Chr14:45154750

Conflicting classifications of pathogenicity

Spermatogenic failure 28
Premature ovarian failure 15
Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome
Spermatogenic failure 28
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7168974

rs_138225703

10 SubmittersRCV000763928 RCV001535656 RCV000688866 RCV002256466 RCV001771942 RCV004535713

NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys)

SNV
Germline

Chr16:23629250

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA395123812

rs_1567216902

4 SubmittersRCV000686106 RCV001015881 RCV002485597

NM_020937.4(FANCM):c.3281T>G (p.Leu1094Ter)

SNV
Germline

Chr14:45176035

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389600799

rs_1555364837

1 SubmittersRCV000700187

NM_020937.4(FANCM):c.4959G>A (p.Met1653Ile)

SNV
Germline

Chr14:45188981

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Spermatogenic failure 28
Premature ovarian failure 15
Inborn genetic diseases
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA7169884

rs_143152888

5 SubmittersRCV000693498 RCV001562968 RCV002493185 RCV004619388 RCV004702332

NM_032444.4(SLX4):c.247G>A (p.Gly83Ser)

SNV
Germline

Chr16:3608718

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7866918

rs_200319106

3 SubmittersRCV000688332 RCV002485615 RCV002547123

NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)

SNV
Germline

Chr16:89738644

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8250573

rs_144171225

5 SubmittersRCV000692969 RCV002477566 RCV003392528 RCV004972864

NM_000135.4(FANCA):c.3408+1G>C

SNV
Germline

Chr16:89746830

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397486036

rs_1567601557

1 SubmittersRCV000695127

NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter)

SNV
Germline

Chr9:35074489

Pathogenic

Fanconi anemia
Fanconi anemia complementation group G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5039658

rs_779834525

6 SubmittersRCV000696742 RCV001194971 RCV002259362

NM_058216.3(RAD51C):c.571+2T>A

SNV
Germline

Chr17:58696861

Likely pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA400345567

rs_1567789009

1 SubmittersRCV000701329

NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)

SNV
Germline

Chr17:61686136

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400481958

rs_1060501766

3 SubmittersRCV000689517 RCV003336137

NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys)

SNV
Germline

Chr16:23635396

Conflicting classifications of pathogenicity

Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395133552

rs_1567221497

4 SubmittersRCV000693232 RCV002493183 RCV001181141

NM_024675.4(PALB2):c.113C>T (p.Ala38Val)

SNV
Germline

Chr16:23637948

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ovarian cancer
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA7963837

rs_371875379

5 SubmittersRCV000694173 RCV000774648 RCV003153807 RCV002477574

NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val)

SNV
Germline

Chr16:23621438

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395143060

rs_1567212950

4 SubmittersRCV000695855 RCV001030369 RCV002507213 RCV003362904

NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)

SNV
Germline

Chr16:89742921

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251036

rs_199601218

7 SubmittersRCV000685297 RCV001274526 RCV001816695 RCV003237986

NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)

SNV
Germline

Chr16:89752172

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251373

rs_200022826

5 SubmittersRCV000699108 RCV001816722 RCV001276512 RCV003148833

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
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA056922

rs_776278453

8 SubmittersRCV000689929 RCV000775182 RCV001565727 RCV001771944 RCV003493704 RCV005021061

NM_058216.3(RAD51C):c.952G>A (p.Asp318Asn)

SNV
Germline

Chr17:58724087

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400361537

rs_876659875

4 SubmittersRCV000686884 RCV002268249 RCV004822167 RCV002369832

NM_032043.3(BRIP1):c.2824T>C (p.Cys942Arg)

SNV
Germline

Chr17:61685917

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400481439

rs_1567731308

3 SubmittersRCV000706890 RCV002440548 RCV004569395

NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter)

SNV
Germline

Chr17:61801454

Pathogenic

Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400484282

rs_1436085018

2 SubmittersRCV003336153 RCV000701553

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
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10592561

rs_80358054

4 SubmittersRCV000688168 RCV001191823 RCV001283905 RCV005021054

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
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10594212

rs_876658340

4 SubmittersRCV000699231 RCV001021335 RCV005021086

NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter)

SNV
Germline

Chr17:58692674

Pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA400336417

rs_1567782755

1 SubmittersRCV000698142

NM_032043.3(BRIP1):c.3529A>C (p.Lys1177Gln)

SNV
Germline

Chr17:61683517

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690354

rs_756313788

3 SubmittersRCV000692471 RCV001020526 RCV003325213

NM_032043.3(BRIP1):c.2791C>T (p.Pro931Ser)

SNV
Germline

Chr17:61685950

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400481525

rs_745940032

4 SubmittersRCV000703868 RCV004569380 RCV004026646

NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter)

SNV
Germline

Chr17:61799278

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483786

rs_1304655615

2 SubmittersRCV000690639 RCV003336139

NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter)

SNV
Germline

Chr17:61847214

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483426

rs_1060501765

2 SubmittersRCV000688451 RCV003336136

NM_032043.3(BRIP1):c.93+8T>G

SNV
Germline

Chr17:61861439

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA891844434

rs_1567878012

3 SubmittersRCV000697304 RCV004788134

NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)

SNV
Germline

Chr16:89740080

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8250926

rs_146975341

6 SubmittersRCV000703875 RCV002534419 RCV001274520 RCV004997206

NM_000135.4(FANCA):c.2904G>A (p.Ser968=)

SNV
Germline

Chr16:89758654

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251442

rs_568354015

4 SubmittersRCV000705864 RCV001274569 RCV003478446 RCV004972900

NM_058216.3(RAD51C):c.19C>G (p.Arg7Gly)

SNV
Germline

Chr17:58692662

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8677124

rs_759759863

3 SubmittersRCV000701405 RCV002422570 RCV004689862

NM_058216.3(RAD51C):c.37G>A (p.Asp13Asn)

SNV
Germline

Chr17:58692680

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400336507

rs_1060502603

2 SubmittersRCV000688790 RCV002352128

NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter)

SNV
Germline

Chr17:58694984

Pathogenic

Fanconi anemia complementation group O
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400339967

rs_1567785872

4 SubmittersRCV000690554 RCV000785445 RCV002422492 RCV004025057

NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser)

SNV
Germline

Chr17:61683415

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400477949

rs_1567727439

4 SubmittersRCV000696975 RCV000776820 RCV003478427

NM_032043.3(BRIP1):c.297C>G (p.Asp99Glu)

SNV
Germline

Chr17:61857140

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400485427

rs_201617644

4 SubmittersRCV000698838 RCV000781182 RCV002440496

NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly)

SNV
Germline

ChrX:14843805

Conflicting classifications of pathogenicity

Fanconi anemia
VACTERL association, X-linked, with or without hydrocephalus
Condition: not provided
not specified
Fanconi anemia complementation group B
Multiple congenital anomalies/dysmorphic syndrome

Criteria Provided
Conflicting Classifications

CA10352923

rs_140363445

6 SubmittersRCV000694135 RCV001169616 RCV001756194 RCV001816713 RCV001167743 RCV005626160

NM_005431.2(XRCC2):c.581C>T (p.Thr194Met)

SNV
Germline

Chr7:152648904

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Spermatogenic failure 50
Premature ovarian failure 17
Fanconi anemia complementation group U

Criteria Provided
Conflicting Classifications

CA4582327

rs_775565256

6 SubmittersRCV001024570 RCV001194885 RCV005392320

NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)

SNV
Germline

Chr9:95107206

Pathogenic

Fanconi anemia complementation group C
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA196540181

rs_1035139114

6 SubmittersRCV000709079 RCV001390077

NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)

SNV
Germline

Chr9:95117318

Conflicting classifications of pathogenicity

Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome
Hereditary cancer
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA5137482

rs_759900071

5 SubmittersRCV000709084 RCV001017185 RCV003492140 RCV001825407

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
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10597579

rs_1567796585

5 SubmittersRCV000709481 RCV000989897 RCV001182697 RCV005367522

NM_058216.3(RAD51C):c.837+2T>C

SNV
Germline

Chr17:58709992

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA400354587

rs_1567799943

3 SubmittersRCV000772310 RCV000989963

NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys)

SNV
Germline

Chr17:61847140

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA292277712

rs_758851721

4 SubmittersRCV000792364 RCV001175891 RCV003492152

NM_020937.4(FANCM):c.1335T>G (p.Tyr445Ter)

SNV
Germline

Chr14:45155398

Pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Single Submitter

CA389592182

rs_1270367757

2 SubmittersRCV000722283 RCV002535028

NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr14:45153929

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA389590791

rs_1156577591

4 SubmittersRCV000722356 RCV001387795

NM_020937.4(FANCM):c.1969C>T (p.Gln657Ter)

SNV
Germline

Chr14:45167130

Pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Single Submitter

CA389595164

rs_903442271

2 SubmittersRCV000722426 RCV001862117

NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter)

SNV
Germline

Chr16:3583427

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia
SLX4-related disorder
Fanconi anemia complementation group P

Criteria Provided
Multiple Submitters
No Conflicts

CA276952810

rs_200628199

5 SubmittersRCV000722754 RCV002533067 RCV003411662 RCV005021124

NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)

SNV
Germline

Chr16:89744999

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397485653

rs_1390620949

3 SubmittersRCV000723238 RCV001868923 RCV003465654

NM_032043.3(BRIP1):c.2492+1G>C

SNV
Germline

Chr17:61715950

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400479378

rs_1567755539

5 SubmittersRCV000755024 RCV001377589 RCV003336167

NM_000135.4(FANCA):c.2317-2A>G

SNV
Germline

Chr16:89770026

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397444716

rs_1567618264

1 SubmittersRCV000760152

NM_000135.4(FANCA):c.3070A>G (p.Met1024Val)

SNV
Germline

Chr16:89749899

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397486762

rs_1567603987

2 SubmittersRCV000761272 RCV004027178

NM_000135.4(FANCA):c.1342T>C (p.Tyr448His)

SNV
Germline

Chr16:89791420

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA397463717

rs_1567635573

2 SubmittersRCV000761270 RCV002533863

NM_000135.4(FANCA):c.3349-1G>A

SNV
Germline

Chr16:89746891

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8251201

rs_769862233

4 SubmittersRCV000761273 RCV001043409

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

CA387785604

rs_1566232471

4 SubmittersRCV000761285 RCV001024132 RCV003478452 RCV003768291

NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro)

SNV
Germline

Chr16:89773306

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397449752

rs_1567621042

3 SubmittersRCV000761289

NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter)

SNV
Germline

Chr16:89744972

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397485600

rs_1313006784

2 SubmittersRCV000761971 RCV001386218

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

CA483438751

rs_1401654517

4 SubmittersRCV000774480 RCV001113819 RCV001113820 RCV001464209

NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu)

SNV
Germline

Chr16:23629818

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA395124994

rs_764509489

4 SubmittersRCV000773204 RCV000819396 RCV002507340

NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile)

SNV
Germline

Chr16:23630157

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA395127183

rs_1567218311

5 SubmittersRCV000777409 RCV001869122 RCV002477779 RCV005358024

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
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598112

rs_1567797589

5 SubmittersRCV000773193 RCV001217297 RCV001356675 RCV005021155

NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter)

SNV
Germline

Chr17:58703316

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400350091

rs_1060502588

4 SubmittersRCV000773940 RCV001067488 RCV004027258

NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter)

SNV
Germline

Chr17:58709955

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA400354153

rs_1567799818

2 SubmittersRCV000773859 RCV000797010

NM_058216.3(RAD51C):c.1045A>G (p.Thr349Ala)

SNV
Germline

Chr17:58734136

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400365994

rs_1567818564

3 SubmittersRCV000776907 RCV001222936

NM_032043.3(BRIP1):c.3261T>G (p.Asn1087Lys)

SNV
Germline

Chr17:61683785

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400479105

rs_1567728557

6 SubmittersRCV000777508 RCV001340324 RCV005225137 RCV004569484

NM_032043.3(BRIP1):c.2467A>G (p.Arg823Gly)

SNV
Germline

Chr17:61715976

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian cancer
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400479485

rs_1567755628

4 SubmittersRCV000777286 RCV003153835 RCV005213396

NM_032043.3(BRIP1):c.2142G>A (p.Trp714Ter)

SNV
Germline

Chr17:61744547

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400483214

rs_1567781516

3 SubmittersRCV000776601 RCV004027296 RCV005225134

NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter)

SNV
Germline

Chr17:61780974

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400480524

rs_777217004

4 SubmittersRCV000771280 RCV003336175 RCV001869076

NM_032043.3(BRIP1):c.1610T>A (p.Leu537His)

SNV
Germline

Chr17:61784288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian cancer
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400480937

rs_1567816751

3 SubmittersRCV000777287 RCV003153836 RCV005225136

NM_032043.3(BRIP1):c.1546G>A (p.Val516Ile)

SNV
Germline

Chr17:61784352

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400481212

rs_1567816972

4 SubmittersRCV000777057 RCV001348473 RCV001546297

NM_058216.3(RAD51C):c.904+1G>A

SNV
Germline

Chr17:58720813

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400359854

rs_1555602159

4 SubmittersRCV000777004 RCV001873162 RCV004027301

NM_032043.3(BRIP1):c.1628+15C>T

SNV
Germline

Chr17:61784255

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690710

rs_751454994

3 SubmittersRCV000775420 RCV003768387 RCV005358011

NM_058216.3(RAD51C):c.572-7G>A

SNV
Germline

Chr17:58703189

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA913188858

rs_1567794083

3 SubmittersRCV000773768 RCV002534096 RCV005427269

NM_032043.3(BRIP1):c.2380-1G>A

SNV
Germline

Chr17:61716064

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400479868

rs_1567756032

4 SubmittersRCV000772817 RCV000815797 RCV003336176

NM_058216.3(RAD51C):c.706-2A>C

SNV
Germline

Chr17:58709857

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
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400353033

rs_587780259

6 SubmittersRCV000777161 RCV001063152 RCV001195023 RCV002501009 RCV004027303

NM_032043.3(BRIP1):c.379+1G>A

SNV
Germline

Chr17:61857057

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485258

rs_1437158047

3 SubmittersRCV000773739 RCV001856067

NM_032043.3(BRIP1):c.1936-5T>A

SNV
Germline

Chr17:61776567

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913187801

rs_769767296

3 SubmittersRCV000772996 RCV001064820

NM_032043.3(BRIP1):c.205+6T>C

SNV
Germline

Chr17:61859790

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA913188902

rs_1555618360

4 SubmittersRCV000772601 RCV001054796 RCV004760771 RCV005601099

NM_000136.3(FANCC):c.3G>A (p.Met1Ile)

SNV
Germline

Chr9:95249289

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA374340548

rs_1368374192

3 SubmittersRCV002307613 RCV002352294 RCV001869147

NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)

SNV
Germline

Chr15:89294967

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA7723401

rs_748000458

5 SubmittersRCV004588239 RCV000778449 RCV002536730

NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)

SNV
Germline

Chr15:89303898

Pathogenic/Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA7723562

rs_140404896

4 SubmittersRCV000778450 RCV001239482

NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter)

SNV
Germline

Chr16:3583254

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394514954

rs_1291935778

1 SubmittersRCV001856168

NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter)

SNV
Germline

Chr16:3591054

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA7866128

rs_200715208

1 SubmittersRCV003768435

NM_007294.4(BRCA1):c.4185+4105C>T

SNV
Germline

Chr17:43086839

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
BRCA1-related cancer predisposition
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA915950066

rs_1597853155

7 SubmittersRCV000845280 RCV002332564 RCV003461051 RCV004783854 RCV004803213 RCV005392378

NM_058216.3(RAD51C):c.572-3C>G

SNV
Germline

Chr17:58703193

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA913190898

rs_1567794089

5 SubmittersRCV000781792 RCV002343641 RCV000823568 RCV003238210 RCV005001109

NM_032043.3(BRIP1):c.2379+1G>T

SNV
Germline

Chr17:61743012

Likely pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400482517

rs_1555590286

6 SubmittersRCV000780048 RCV001569647 RCV002442600 RCV002536861

NM_000135.4(FANCA):c.2778+1G>A

SNV
Germline

Chr16:89764889

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397437786

rs_140180549

12 SubmittersRCV000786986 RCV000811488 RCV002269312

NM_018062.4(FANCL):c.1088G>A (p.Ser363Asn)

SNV
Germline

Chr2:58160112

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1670314

rs_544425912

2 SubmittersRCV000794987 RCV005562457

NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter)

SNV
Germline

Chr3:10041684

Pathogenic

Fanconi anemia
Fanconi anemia complementation group D2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA70026056

rs_374328858

6 SubmittersRCV000808868 RCV001194906 RCV001726335

NM_004629.2(FANCG):c.766C>T (p.His256Tyr)

SNV
Germline

Chr9:35076982

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5039967

rs_753955326

6 SubmittersRCV000804096 RCV001292759 RCV001816868 RCV002537173

NM_004629.2(FANCG):c.55A>G (p.Lys19Glu)

SNV
Germline

Chr9:35079470

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA5040162

rs_186641344

3 SubmittersRCV000817154 RCV001816900 RCV003153858

NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser)

SNV
Germline

Chr9:95111501

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374107295

rs_1588047887

4 SubmittersRCV000808242 RCV001274613 RCV002381787

NM_022725.4(FANCF):c.637C>T (p.Pro213Ser)

SNV
Germline

Chr11:22625174

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group F

Criteria Provided
Conflicting Classifications

CA5924294

rs_201382399

2 SubmittersRCV000816473 RCV002507427

NM_020937.4(FANCM):c.1142C>A (p.Ser381Ter)

SNV
Germline

Chr14:45154011

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389590979

rs_765686151

1 SubmittersRCV000807702

NM_020937.4(FANCM):c.1193G>A (p.Arg398Gln)

SNV
Germline

Chr14:45154706

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Hereditary cancer
Condition: not provided
Spermatogenic failure 28
Premature ovarian failure 15

Criteria Provided
Conflicting Classifications

CA7168969

rs_530233908

6 SubmittersRCV000809258 RCV002259023 RCV005231367 RCV003151815 RCV005004441

NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter)

SNV
Germline

Chr14:45166959

Pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7169163

rs_778744393

2 SubmittersRCV000814158 RCV003992401

NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe)

SNV
Germline

Chr14:45175563

Conflicting classifications of pathogenicity

Fanconi anemia
Spermatogenic failure 28
Condition: not provided
Spermatogenic failure 28
Premature ovarian failure 15
Inborn genetic diseases
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7169413

rs_138274490

7 SubmittersRCV000823317 RCV001293944 RCV001772139 RCV002478929 RCV002535981 RCV004538129

NM_020937.4(FANCM):c.2968G>A (p.Val990Ile)

SNV
Germline

Chr14:45175722

Conflicting classifications of pathogenicity

Fanconi anemia
Spermatogenic failure 28
Premature ovarian failure 15
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7169435

rs_772477865

3 SubmittersRCV000794413 RCV002501045 RCV004619414

NM_020937.4(FANCM):c.3556A>G (p.Asn1186Asp)

SNV
Germline

Chr14:45176310

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA389602046

rs_1375995948

2 SubmittersRCV000809948 RCV005338378

NM_020937.4(FANCM):c.4601C>A (p.Ser1534Ter)

SNV
Germline

Chr14:45185302

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389608255

rs_1594810556

1 SubmittersRCV000810762

NM_020937.4(FANCM):c.4934G>A (p.Arg1645His)

SNV
Germline

Chr14:45188956

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Spermatogenic failure 28
Premature ovarian failure 15
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA7169877

rs_377502779

6 SubmittersRCV000815706 RCV002307626 RCV002487794 RCV004702449

NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe)

SNV
Germline

Chr14:45198759

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
Spermatogenic failure 28
Premature ovarian failure 15
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA7170077

rs_201017015

8 SubmittersRCV000809180 RCV001816879 RCV001664428 RCV002495113 RCV002259022 RCV003492175

NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val)

SNV
Germline

Chr14:45198775

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Spermatogenic failure 28
Premature ovarian failure 15
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA7170079

rs_146436929

5 SubmittersRCV000818486 RCV001731943 RCV002507433 RCV003492178

NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu)

SNV
Germline

Chr16:13935719

Conflicting classifications of pathogenicity

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA7910535

rs_751782722

2 SubmittersRCV000820566 RCV003153866

NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)

SNV
Germline

Chr16:13947765

Pathogenic/Likely pathogenic

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Condition: not provided
XFE progeroid syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Multiple Submitters
No Conflicts

CA7910691

rs_2020959

4 SubmittersRCV000822020 RCV001194781 RCV005021255

NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly)

SNV
Germline

Chr16:13948019

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Ovarian cancer
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7910734

rs_746576915

3 SubmittersRCV000812059 RCV003153852 RCV003353046

NM_032444.4(SLX4):c.4524G>A (p.Ser1508=)

SNV
Germline

Chr16:3589114

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA493390910

rs_1423670990

2 SubmittersRCV000810113 RCV005012347

NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)

SNV
Germline

Chr16:89738898

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8250674

rs_201658945

7 SubmittersRCV000803393 RCV001274509 RCV003478502 RCV004742643

NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)

SNV
Germline

Chr16:89739527

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA286617246

rs_755375493

4 SubmittersRCV000814285 RCV001274551 RCV005338387

NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val)

SNV
Germline

Chr16:89742865

Conflicting classifications of pathogenicity

Fanconi anemia
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA397485411

rs_1598063117

2 SubmittersRCV000819591 RCV003153864

NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)

SNV
Germline

Chr16:89745035

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251100

rs_201492940

5 SubmittersRCV000796532 RCV001276495 RCV001816853 RCV004997329

NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter)

SNV
Germline

Chr16:89745064

Pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Single Submitter

CA397485783

rs_1598067532

2 SubmittersRCV000823169 RCV003325309

NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)

SNV
Germline

Chr16:89758609

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8251426

rs_188695241

7 SubmittersRCV000792471 RCV001276515 RCV003478489 RCV001816841

NM_000135.4(FANCA):c.2851C>A (p.Arg951=)

SNV
Germline

Chr16:89761950

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA497182543

rs_755546887

3 SubmittersRCV000799747 RCV004997341 RCV005338362

NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)

SNV
Germline

Chr16:89770168

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA8251797

rs_761725308

3 SubmittersRCV000813088 RCV001256264

NM_000135.4(FANCA):c.2248G>A (p.Val750Met)

SNV
Germline

Chr16:89770234

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251816

rs_747723074

4 SubmittersRCV000807024 RCV005021222 RCV003478510

NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)

SNV
Germline

Chr16:89771749

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA8251920

rs_201589909

7 SubmittersRCV000801692 RCV001271603 RCV003334022 RCV003153842

NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp)

SNV
Germline

Chr16:89784865

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8252333

rs_143083764

3 SubmittersRCV000808001 RCV003480848

NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)

SNV
Germline

Chr16:89791481

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8252415

rs_747322973

3 SubmittersRCV000807004 RCV001274156 RCV003478509

NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)

SNV
Germline

Chr16:89791994

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397466183

rs_752864343

2 SubmittersRCV000801557 RCV003461133

NM_000135.4(FANCA):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr16:89803261

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397475854

rs_1353992080

3 SubmittersRCV000803831 RCV001256229

NM_000135.4(FANCA):c.548G>A (p.Trp183Ter)

SNV
Germline

Chr16:89808342

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397479347

rs_1598184500

2 SubmittersRCV000803115

NM_000135.4(FANCA):c.361G>A (p.Val121Met)

SNV
Germline

Chr16:89810994

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8253053

rs_780035612

3 SubmittersRCV000816187 RCV005012361

NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)

SNV
Germline

Chr16:89814545

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397482469

rs_1452688134

5 SubmittersRCV001256218 RCV000799851

NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)

SNV
Germline

Chr16:89814603

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8253117

rs_200698961

5 SubmittersRCV000791641 RCV001759486 RCV001274662

NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)

SNV
Germline

Chr16:89815950

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8253167

rs_151089298

5 SubmittersRCV000803891 RCV001276569 RCV004972973

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
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10595022

rs_1597863410

3 SubmittersRCV000824010 RCV003158254 RCV005359593

NM_058216.3(RAD51C):c.8G>A (p.Gly3Glu)

SNV
Germline

Chr17:58692651

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400336095

rs_1555591761

2 SubmittersRCV000817899 RCV001018624

NM_058216.3(RAD51C):c.392A>T (p.Lys131Ile)

SNV
Germline

Chr17:58695177

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA400341996

rs_762761380

3 SubmittersRCV000822638 RCV004029111 RCV005055142

NM_058216.3(RAD51C):c.571G>A (p.Glu191Lys)

SNV
Germline

Chr17:58696859

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400345557

rs_1598460983

2 SubmittersRCV000799274 RCV003372854

NM_058216.3(RAD51C):c.934C>G (p.Arg312Gly)

SNV
Germline

Chr17:58724069

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400361415

rs_730881932

5 SubmittersRCV000824156 RCV001585767 RCV002372361 RCV004569786

NM_032043.3(BRIP1):c.3686T>C (p.Ile1229Thr)

SNV
Germline

Chr17:61683360

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400477824

rs_1157058742

2 SubmittersRCV000824351 RCV004950012

NM_032043.3(BRIP1):c.3422A>C (p.Asp1141Ala)

SNV
Germline

Chr17:61683624

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA292267261

rs_1034551306

3 SubmittersRCV000797364 RCV001187109

NM_032043.3(BRIP1):c.2776G>A (p.Ala926Thr)

SNV
Germline

Chr17:61685965

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292268093

rs_1003917080

4 SubmittersRCV000816540 RCV001127856 RCV001016557 RCV001575873

NM_032043.3(BRIP1):c.2707C>A (p.Gln903Lys)

SNV
Germline

Chr17:61686034

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400481699

rs_1603276837

3 SubmittersRCV000795930 RCV001188268

NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter)

SNV
Germline

Chr17:61776505

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400478426

rs_1603328780

3 SubmittersRCV000807659 RCV002422772 RCV003336202

NM_032043.3(BRIP1):c.1694C>T (p.Ser565Leu)

SNV
Germline

Chr17:61780940

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400480447

rs_1603334619

3 SubmittersRCV000820818 RCV001776040 RCV003169013

NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter)

SNV
Germline

Chr17:61784280

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400480903

rs_1603336897

2 SubmittersRCV000816751 RCV003336216

NM_032043.3(BRIP1):c.1534G>T (p.Glu512Ter)

SNV
Germline

Chr17:61784364

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400481264

rs_1603336980

1 SubmittersRCV000811244

NM_032043.3(BRIP1):c.1186C>G (p.His396Asp)

SNV
Germline

Chr17:61799254

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400483735

rs_1603342316

4 SubmittersRCV000816776 RCV001194729 RCV000985635 RCV001010215

NM_032043.3(BRIP1):c.446A>G (p.Asp149Gly)

SNV
Germline

Chr17:61849190

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8690932

rs_770613242

3 SubmittersRCV000809093 RCV001022529

NM_032043.3(BRIP1):c.441C>G (p.Tyr147Ter)

SNV
Germline

Chr17:61849195

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400484490

rs_1603362622

1 SubmittersRCV000802169

NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg)

SNV
Germline

ChrX:14864678

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group B

Criteria Provided
Conflicting Classifications

CA10353165

rs_150435015

3 SubmittersRCV000811640 RCV000999328 RCV003145169

NM_000136.3(FANCC):c.346-1G>T

SNV
Germline

Chr9:95172148

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374338922

rs_1484503633

1 SubmittersRCV000809608

NM_000136.3(FANCC):c.687-1G>A

SNV
Germline

Chr9:95135503

Likely pathogenic

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374109497

rs_1588134748

2 SubmittersRCV000820250 RCV002363153

NM_020937.4(FANCM):c.5340+1G>T

SNV
Germline

Chr14:45189363

Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7169964

rs_754297345

3 SubmittersRCV000816054 RCV003228996

NM_000135.4(FANCA):c.1900+1G>T

SNV
Germline

Chr16:89775741

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397451756

rs_1598120768

2 SubmittersRCV000809003 RCV003467430

NM_000135.4(FANCA):c.426+2T>G

SNV
Germline

Chr16:89810927

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397480848

rs_1598190568

2 SubmittersRCV000801912 RCV001256438

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

CA915946915

rs_1593879845

4 SubmittersRCV000797145 RCV002352335 RCV003330094

NM_032043.3(BRIP1):c.2097+1G>T

SNV
Germline

Chr17:61776400

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400477947

rs_786202941

1 SubmittersRCV000821425

NM_032043.3(BRIP1):c.1936-1G>C

SNV
Germline

Chr17:61776563

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400478663

rs_1555601204

1 SubmittersRCV000795180

NM_032043.3(BRIP1):c.1794+1G>C

SNV
Germline

Chr17:61780839

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400480243

rs_766516963

3 SubmittersRCV000816078 RCV003336214 RCV003380748

NM_000135.4(FANCA):c.2317-1G>T

SNV
Germline

Chr16:89770025

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397444704

rs_1230207719

2 SubmittersRCV000811635 RCV004569675

NM_032043.3(BRIP1):c.2493-2A>G

SNV
Germline

Chr17:61693514

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400482512

rs_1603280621

4 SubmittersRCV000795616 RCV003336190 RCV005055446

NM_032043.3(BRIP1):c.628-1G>A

SNV
Germline

Chr17:61808758

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400485251

rs_1219435870

1 SubmittersRCV000796323

NM_032043.3(BRIP1):c.93+2T>C

SNV
Germline

Chr17:61861445

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485890

rs_775755739

2 SubmittersRCV000811822 RCV003336211

NM_000135.4(FANCA):c.2852+2T>G

SNV
Germline

Chr16:89761947

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397433081

rs_766875860

1 SubmittersRCV000798008

NM_001018115.3(FANCD2):c.2715+1G>A

SNV
Germline

Chr3:10073363

Pathogenic

Fanconi anemia
Fanconi anemia complementation group D2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2250154

rs_201811817

10 SubmittersRCV000826140 RCV001194925 RCV001593026

NM_004629.2(FANCG):c.85-2A>T

SNV
Germline

Chr9:35079243

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA5040140

rs_759590778

3 SubmittersRCV000826141 RCV003467527

NM_001018113.3(FANCB):c.2165+1G>T

SNV
Germline

ChrX:14844502

Pathogenic

Fanconi anemia complementation group B

No Assertion Criteria Provided

CA412438033

rs_1601977379

1 SubmittersRCV000851567

NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter)

SNV
Germline

ChrX:14859183

Pathogenic

Fanconi anemia complementation group B

No Assertion Criteria Provided

CA412442984

rs_143585647

1 SubmittersRCV000851559

NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro)

SNV
Germline

ChrX:14859300

Pathogenic

Fanconi anemia complementation group B

No Assertion Criteria Provided

CA412443247

rs_1161918267

1 SubmittersRCV000851558

NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter)

SNV
Germline

ChrX:14864562

Pathogenic

Fanconi anemia complementation group B

No Assertion Criteria Provided

CA412443345

rs_1602005062

1 SubmittersRCV000851556

NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser)

SNV
Germline

ChrX:14865383

Pathogenic

Fanconi anemia complementation group B

No Assertion Criteria Provided

CA412445224

rs_1602006737

1 SubmittersRCV000851552

NM_000135.4(FANCA):c.2014+1G>C

SNV
Germline

Chr16:89773270

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397449451

rs_1598116164

5 SubmittersRCV000853504 RCV001241985 RCV003148887

NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=)

SNV
Germline

Chr3:10052455

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
FANCD2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2249725

rs_141824395

4 SubmittersRCV000861189 RCV001146891 RCV004754582 RCV003884745

NM_004629.2(FANCG):c.1521G>A (p.Ala507=)

SNV
Germline

Chr9:35075042

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5039706

rs_373411028

4 SubmittersRCV000862386 RCV001276339 RCV001816945 RCV004973038

NM_022725.4(FANCF):c.873A>G (p.Lys291=)

SNV
Germline

Chr11:22624938

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5924240

rs_757578045

3 SubmittersRCV000861878 RCV001816933 RCV004808900

NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)

SNV
Germline

Chr15:89285146

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7723142

rs_201037656

4 SubmittersRCV000861177 RCV001115983 RCV003396495

NM_005236.3(ERCC4):c.503C>T (p.Ala168Val)

SNV
Germline

Chr16:13926675

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Fanconi anemia complementation group Q
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7910210

rs_2020961

4 SubmittersRCV000862022 RCV001292967 RCV002536230 RCV005231406

NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)

SNV
Germline

Chr16:89740831

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8250961

rs_143772894

8 SubmittersRCV000861812 RCV001274555 RCV002478951 RCV003928338 RCV004973032

NM_021922.3(FANCE):c.1114-4G>A

SNV
Germline

Chr6:35459327

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
Fanconi anemia
FANCE-related disorder

Criteria Provided
Conflicting Classifications

CA3771610

rs_368422520

3 SubmittersRCV000863828 RCV002258008 RCV003948087

NM_000135.4(FANCA):c.2015-4G>T

SNV
Germline

Chr16:89771818

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251936

rs_373954227

3 SubmittersRCV000862721 RCV001118625

NM_000136.3(FANCC):c.693G>A (p.Lys231=)

SNV
Germline

Chr9:95135496

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196562636

rs_955961811

3 SubmittersRCV000870229 RCV002363260 RCV002473157

NM_000136.3(FANCC):c.675G>A (p.Glu225=)

SNV
Germline

Chr9:95149934

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5137671

rs_760906091

4 SubmittersRCV001421512 RCV002363257 RCV003322833 RCV005236364

NM_022725.4(FANCF):c.412C>A (p.Arg138Ser)

SNV
Germline

Chr11:22625399

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group F

Criteria Provided
Conflicting Classifications

CA5924339

rs_565372884

4 SubmittersRCV000870754 RCV001817000 RCV005047134

NM_022725.4(FANCF):c.279C>T (p.Leu93=)

SNV
Germline

Chr11:22625532

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group F
not specified

Criteria Provided
Conflicting Classifications

CA5924384

rs_199578614

4 SubmittersRCV000870427 RCV001107768 RCV001816996

NM_022725.4(FANCF):c.148C>T (p.Arg50Trp)

SNV
Germline

Chr11:22625663

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
FANCF-related disorder

Criteria Provided
Conflicting Classifications

CA5924421

rs_577253174

4 SubmittersRCV000864580 RCV001311755 RCV003908201

NM_020937.4(FANCM):c.1200A>G (p.Lys400=)

SNV
Germline

Chr14:45154713

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA259616444

rs_905295349

2 SubmittersRCV000867142 RCV003478536

NM_020937.4(FANCM):c.2163T>G (p.Ala721=)

SNV
Germline

Chr14:45173057

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA486140227

rs_781479852

3 SubmittersRCV004822249 RCV003523029 RCV005338415

NM_020937.4(FANCM):c.3681A>G (p.Leu1227=)

SNV
Germline

Chr14:45176435

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
not specified
FANCM-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7169554

rs_61749475

6 SubmittersRCV000868203 RCV001566056 RCV001816983 RCV004540209 RCV004973081

NM_020937.4(FANCM):c.3837A>G (p.Ala1279=)

SNV
Germline

Chr14:45176591

Conflicting classifications of pathogenicity

Fanconi anemia
Spermatogenic failure 28
Premature ovarian failure 15
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7169583

rs_188061266

4 SubmittersRCV001439377 RCV002507495 RCV003478535 RCV004973071

NM_020937.4(FANCM):c.4084G>A (p.Asp1362Asn)

SNV
Germline

Chr14:45176838

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7169620

rs_199895244

3 SubmittersRCV000864937 RCV001766774

NM_001113378.2(FANCI):c.1398C>T (p.Ile466=)

SNV
Germline

Chr15:89281186

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

CA7723015

rs_201002833

2 SubmittersRCV000868876 RCV001120905

NM_032444.4(SLX4):c.4830C>T (p.Ser1610=)

SNV
Germline

Chr16:3583420

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Fanconi anemia
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7865500

rs_370775954

3 SubmittersRCV001119630 RCV001443455 RCV003938278

NM_032444.4(SLX4):c.1511C>G (p.Pro504Arg)

SNV
Germline

Chr16:3597551

Conflicting classifications of pathogenicity

Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

CA7866500

rs_569591337

2 SubmittersRCV001509602 RCV001816993

NM_000135.4(FANCA):c.1734C>T (p.Tyr578=)

SNV
Germline

Chr16:89778985

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8252125

rs_762647468

5 SubmittersRCV000870464 RCV001816998 RCV002495295 RCV003478547

NM_000135.4(FANCA):c.1632C>A (p.His544Gln)

SNV
Germline

Chr16:89779952

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252186

rs_553129361

4 SubmittersRCV000870231 RCV001115562 RCV002539952

NM_000135.4(FANCA):c.1413C>T (p.Val471=)

SNV
Germline

Chr16:89784911

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252341

rs_201561753

5 SubmittersRCV000866653 RCV001116989 RCV003948119 RCV004973068

NM_000135.4(FANCA):c.837C>T (p.Asp279=)

SNV
Germline

Chr16:89799222

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252724

rs_752311383

6 SubmittersRCV000866096 RCV001115653 RCV003424395 RCV004973063

NM_001018113.3(FANCB):c.1570C>G (p.Gln524Glu)

SNV
Germline

ChrX:14845213

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10353032

rs_370248837

3 SubmittersRCV000864986 RCV001816965 RCV004973052

NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)

SNV
Germline

ChrX:14859219

Conflicting classifications of pathogenicity

Fanconi anemia
VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia complementation group B
Inborn genetic diseases
FANCB-related disorder

Criteria Provided
Conflicting Classifications

CA10353136

rs_142304943

5 SubmittersRCV000868818 RCV002495286 RCV002409068 RCV003965726

NM_001018115.3(FANCD2):c.3466+10C>T

SNV
Germline

Chr3:10087274

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
not specified
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA2250388

rs_200208121

5 SubmittersRCV000865720 RCV001145654 RCV003151165 RCV003965699

NM_032444.4(SLX4):c.4740-6C>T

SNV
Germline

Chr16:3583516

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7865516

rs_377066518

2 SubmittersRCV000864778 RCV001119631

NM_000135.4(FANCA):c.3626+7G>A

SNV
Germline

Chr16:89744952

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA286623531

rs_933657325

2 SubmittersRCV000868485 RCV001121954

NM_020937.4(FANCM):c.4410G>C (p.Glu1470Asp)

SNV
Germline

Chr14:45183797

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7169742

rs_534488351

3 SubmittersRCV000872232 RCV001557182 RCV004973109

NM_001113378.2(FANCI):c.2577G>C (p.Val859=)

SNV
Germline

Chr15:89295035

Conflicting classifications of pathogenicity

Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

CA7723409

rs_562877308

2 SubmittersRCV001473218 RCV001817039

NM_032444.4(SLX4):c.738A>G (p.Gln246=)

SNV
Germline

Chr16:3606496

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA276970041

rs_905819290

2 SubmittersRCV001120028 RCV003768701

NM_000135.4(FANCA):c.3267C>T (p.Val1089=)

SNV
Germline

Chr16:89748740

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA286625351

rs_994416299

3 SubmittersRCV000873449 RCV001118526 RCV004973113

NM_000135.4(FANCA):c.402T>C (p.Pro134=)

SNV
Germline

Chr16:89810953

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8253034

rs_745666586

4 SubmittersRCV000874197 RCV001118713 RCV005338438

NM_000135.4(FANCA):c.522+9G>C

SNV
Germline

Chr16:89810698

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8252986

rs_113051956

3 SubmittersRCV000872155 RCV001817018 RCV003930394

NM_032043.3(BRIP1):c.2906-7T>C

SNV
Germline

Chr17:61684147

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA773770654

rs_1237575383

6 SubmittersRCV000875557 RCV001190780 RCV001799003 RCV004792564 RCV005243392

NM_020937.4(FANCM):c.2988T>C (p.Tyr996=)

SNV
Germline

Chr14:45175742

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7169440

rs_373971974

3 SubmittersRCV000925963 RCV003332271 RCV004973173

NM_022725.4(FANCF):c.618G>C (p.Ala206=)

SNV
Germline

Chr11:22625193

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA219086633

rs_1056134185

2 SubmittersRCV001818909 RCV001500147

NM_020937.4(FANCM):c.3663T>C (p.Phe1221=)

SNV
Germline

Chr14:45176417

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
FANCM-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7169550

rs_772996800

5 SubmittersRCV000931430 RCV001475559 RCV004738088 RCV004973182

NM_058216.3(RAD51C):c.681A>G (p.Pro227=)

SNV
Germline

Chr17:58703305

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
RAD51C-related disorder
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501075264

rs_1177043110

4 SubmittersRCV001429685 RCV004528323 RCV005423122 RCV004669173

NM_032043.3(BRIP1):c.2958C>T (p.Ser986=)

SNV
Germline

Chr17:61684088

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501143297

rs_1603275662

5 SubmittersRCV000938033 RCV001459592 RCV004789267 RCV004029666

NM_032043.3(BRIP1):c.2913A>G (p.Pro971=)

SNV
Germline

Chr17:61684133

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501143329

rs_1603275716

4 SubmittersRCV000944188 RCV001087205 RCV001016943 RCV004792583

NM_058216.3(RAD51C):c.405-5G>A

SNV
Germline

Chr17:58696688

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA915950633

rs_1598459949

6 SubmittersRCV000929068 RCV001505424 RCV001185507 RCV003226408 RCV005427386

NM_058216.3(RAD51C):c.345G>A (p.Val115=)

SNV
Germline

Chr17:58695130

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA501074737

rs_1598456274

4 SubmittersRCV001427927 RCV002454229 RCV004997547 RCV005427486

NM_032043.3(BRIP1):c.2019A>G (p.Gln673=)

SNV
Germline

Chr17:61776479

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292280832

rs_1008150951

5 SubmittersRCV000979926 RCV001078735 RCV001189285 RCV004792595

NM_007294.4(BRCA1):c.4075C>A (p.Gln1359Lys)

SNV
Germline

Chr17:43091456

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA10593810

rs_80357456

8 SubmittersRCV000985412 RCV001193115 RCV001042582 RCV003158261 RCV004803337 RCV005021289

NM_032043.3(BRIP1):c.1950C>T (p.Thr650=)

SNV
Germline

Chr17:61776548

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501150212

rs_1603328999

3 SubmittersRCV000985638 RCV002067567 RCV003307786

NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)

SNV
Germline

Chr3:10043848

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA2249502

rs_372534421

3 SubmittersRCV000987094 RCV001858660 RCV001146800

NM_021922.3(FANCE):c.248+2T>C

SNV
Unknown

Chr6:35452795

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363770993

rs_1581696699

1 SubmittersRCV000987684

NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu)

SNV
Germline

Chr9:95117322

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Hereditary breast ovarian cancer syndrome
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374108102

rs_1588070592

5 SubmittersRCV000988208 RCV001030699 RCV001064625 RCV003160115

NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr)

SNV
Germline

Chr14:45176692

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer
Spermatogenic failure 28
Premature ovarian failure 15

Criteria Provided
Conflicting Classifications

CA7169602

rs_771311008

4 SubmittersRCV001057419 RCV003148902 RCV003492195 RCV002489459

NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)

SNV
Germline

Chr14:45183852

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7169755

rs_183784665

5 SubmittersRCV000989211 RCV001242413 RCV001772179

NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)

SNV
Germline

Chr16:3589550

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA394518450

rs_1596520443

3 SubmittersRCV000989494 RCV002307648 RCV002550612

NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala)

SNV
Germline

Chr16:3590031

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA7865890

rs_745508761

2 SubmittersRCV001869362 RCV005235501

NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro)

SNV
Germline

Chr16:89738943

Likely pathogenic

Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397483587

rs_149851163

3 SubmittersRCV000989668 RCV001256421 RCV001858712

NM_000135.4(FANCA):c.275C>G (p.Ser92Ter)

SNV
Unknown

Chr16:89814528

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397482432

rs_1183559927

1 SubmittersRCV000989675

NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter)

SNV
Germline

Chr17:58720761

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400359404

rs_1598504016

3 SubmittersRCV000989964 RCV001805958

NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly)

SNV
Germline

Chr17:61683586

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690362

rs_769359514

4 SubmittersRCV000989976 RCV001732008 RCV002454235 RCV001210225

NM_032043.3(BRIP1):c.2906-1G>A

SNV
Germline

Chr17:61684141

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690423

rs_773639563

5 SubmittersRCV000989987 RCV001182221 RCV001858716 RCV004721693

NM_001018115.3(FANCD2):c.2606-7A>G

SNV
Germline

Chr3:10073246

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2250140

rs_757102395

2 SubmittersRCV000997982 RCV002549990

NM_001018115.3(FANCD2):c.3224+1G>T

SNV
Germline

Chr3:10081465

Likely pathogenic

Condition: not provided
Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA351749153

rs_1468320596

5 SubmittersRCV000997939 RCV001784532 RCV001869401

NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)

SNV
Germline

Chr11:22625618

Likely pathogenic

Condition: not provided
Fanconi anemia complementation group F
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA5924406

rs_753272712

4 SubmittersRCV000994587 RCV001194785 RCV002271604

NM_000136.3(FANCC):c.897-1G>A

SNV
Unknown

Chr9:95125186

Likely pathogenic

Fanconi anemia complementation group C

No Assertion Criteria Provided

CA374109039

rs_1588101086

1 SubmittersRCV001004549

NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)

SNV
Germline

Chr9:95149936

Pathogenic

Fanconi anemia
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA5137672

rs_374176091

4 SubmittersRCV001216645 RCV001004550 RCV002372728

NM_000136.3(FANCC):c.1660C>T (p.Leu554=)

SNV
Germline

Chr9:95101724

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137289

rs_769743634

3 SubmittersRCV001012560 RCV001490592 RCV003236853

NM_000136.3(FANCC):c.1427A>G (p.Asp476Gly)

SNV
Germline

Chr9:95107172

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA374105986

rs_1375711161

3 SubmittersRCV001011488 RCV001827177

NM_000136.3(FANCC):c.1351G>A (p.Gly451Ser)

SNV
Germline

Chr9:95107248

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196540230

rs_141805918

3 SubmittersRCV001218028 RCV005047203 RCV001011080

NM_000136.3(FANCC):c.1059G>T (p.Leu353=)

SNV
Germline

Chr9:95117328

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA466096081

rs_1588070620

3 SubmittersRCV001009765 RCV002068809 RCV005049728

NM_000136.3(FANCC):c.972A>G (p.Glu324=)

SNV
Germline

Chr9:95125110

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA466099665

rs_1261385032

3 SubmittersRCV001019682 RCV003478639 RCV002068981

NM_000136.3(FANCC):c.729G>A (p.Trp243Ter)

SNV
Germline

Chr9:95135460

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

CA374109410

rs_1588134571

2 SubmittersRCV001026242 RCV003461417

NM_000136.3(FANCC):c.706A>C (p.Met236Leu)

SNV
Germline

Chr9:95135483

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137648

rs_771319430

3 SubmittersRCV001025993 RCV001832362 RCV002260675

NM_000136.3(FANCC):c.534G>C (p.Glu178Asp)

SNV
Germline

Chr9:95150075

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374109868

rs_776694218

3 SubmittersRCV001345569 RCV001023964

NM_000136.3(FANCC):c.338G>A (p.Trp113Ter)

SNV
Germline

Chr9:95240656

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA374339183

rs_1064793405

5 SubmittersRCV001020169 RCV001195043 RCV001210421

NM_000136.3(FANCC):c.176C>T (p.Thr59Ile)

SNV
Germline

Chr9:95247506

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia
Condition: not provided
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA5137809

rs_149566909

5 SubmittersRCV001013091 RCV001213662 RCV001766830 RCV002489519

NM_000136.3(FANCC):c.133C>T (p.Leu45=)

SNV
Germline

Chr9:95249159

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA466275730

rs_1588353394

3 SubmittersRCV001011120 RCV003478609 RCV001410043

NM_000059.4(BRCA2):c.942A>G (p.Lys314=)

SNV
Germline

Chr13:32332420

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

CA483436358

rs_1384322636

4 SubmittersRCV001109311 RCV001114950 RCV001019336 RCV002549502

NM_000059.4(BRCA2):c.1220A>G (p.Gln407Arg)

SNV
Germline

Chr13:32332698

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

CA387762123

rs_1593892264

6 SubmittersRCV001010386 RCV002466600 RCV004789317 RCV001860635

NM_024675.4(PALB2):c.833T>A (p.Leu278Gln)

SNV
Germline

Chr16:23635713

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA7963755

rs_200843485

3 SubmittersRCV001017584 RCV005004485

NM_024675.4(PALB2):c.388C>T (p.His130Tyr)

SNV
Germline

Chr16:23636158

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395137451

rs_1555461809

5 SubmittersRCV001021365 RCV001030148 RCV001119842 RCV001861018

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
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10596316

rs_876660901

5 SubmittersRCV001016569 RCV001236389 RCV002268405 RCV005359764

NM_058216.3(RAD51C):c.44T>C (p.Val15Ala)

SNV
Germline

Chr17:58692687

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400336599

rs_1060502593

2 SubmittersRCV001022594 RCV002551856

NM_058216.3(RAD51C):c.121G>T (p.Val41Leu)

SNV
Germline

Chr17:58692764

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400337598

rs_879254131

2 SubmittersRCV001010407 RCV001860636

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

CA400337730

rs_1598449660

4 SubmittersRCV001010939 RCV001030585 RCV001860653 RCV004030308

NM_058216.3(RAD51C):c.212A>G (p.Asn71Ser)

SNV
Germline

Chr17:58694997

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400340072

rs_1598455555

4 SubmittersRCV001014553 RCV001205684 RCV003461340

NM_058216.3(RAD51C):c.225T>G (p.Tyr75Ter)

SNV
Germline

Chr17:58695010

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400340177

rs_1555593553

3 SubmittersRCV001014967 RCV001860781 RCV004030368

NM_058216.3(RAD51C):c.240G>T (p.Glu80Asp)

SNV
Germline

Chr17:58695025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400340303

rs_779053608

2 SubmittersRCV001015443 RCV001860792

NM_058216.3(RAD51C):c.305C>T (p.Thr102Ile)

SNV
Germline

Chr17:58695090

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400341068

rs_755106004

3 SubmittersRCV001018362 RCV001860905 RCV005245651

NM_058216.3(RAD51C):c.467T>A (p.Val156Asp)

SNV
Germline

Chr17:58696755

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677238

rs_1435180142

4 SubmittersRCV001022887 RCV001862236 RCV005245682

NM_058216.3(RAD51C):c.502A>G (p.Arg168Gly)

SNV
Germline

Chr17:58696790

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677250

rs_587781490

3 SubmittersRCV001023444 RCV003617886 RCV005245687

NM_058216.3(RAD51C):c.821A>G (p.Asn274Ser)

SNV
Germline

Chr17:58709974

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400354354

rs_1598484851

2 SubmittersRCV002552424 RCV001027294

NM_032043.3(BRIP1):c.3739G>A (p.Gly1247Ser)

SNV
Germline

Chr17:61683307

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400477712

rs_1196057129

2 SubmittersRCV001021008 RCV002549531

NM_032043.3(BRIP1):c.3315G>T (p.Leu1105Phe)

SNV
Germline

Chr17:61683731

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400478996

rs_1603275236

3 SubmittersRCV001019926 RCV001873323 RCV004569986

NM_032043.3(BRIP1):c.3292G>T (p.Ala1098Ser)

SNV
Germline

Chr17:61683754

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292267341

rs_1034545913

2 SubmittersRCV001019716 RCV001873320

NM_032043.3(BRIP1):c.3245C>G (p.Thr1082Ser)

SNV
Germline

Chr17:61683801

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400479144

rs_1603275338

3 SubmittersRCV001019418 RCV002550846 RCV004569978

NM_032043.3(BRIP1):c.3197C>T (p.Ser1066Leu)

SNV
Germline

Chr17:61683849

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400479356

rs_1567728809

2 SubmittersRCV001019117 RCV001063963

NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter)

SNV
Germline

Chr17:61683972

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400479858

rs_1603275526

2 SubmittersRCV001018472 RCV001860911

NM_032043.3(BRIP1):c.2906A>G (p.Asn969Ser)

SNV
Germline

Chr17:61684140

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400480774

rs_1603275723

2 SubmittersRCV001016900 RCV002549443

NM_032043.3(BRIP1):c.2785C>T (p.Leu929=)

SNV
Germline

Chr17:61685956

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501335704

rs_1603276698

5 SubmittersRCV001016603 RCV004789338 RCV001488657 RCV002305558

NM_032043.3(BRIP1):c.1917T>C (p.His639=)

SNV
Germline

Chr17:61780279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292281885

rs_763534423

4 SubmittersRCV001013693 RCV002549394 RCV004789330

NM_032043.3(BRIP1):c.1848A>G (p.Thr616=)

SNV
Germline

Chr17:61780348

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501150397

rs_1603333238

2 SubmittersRCV001013402 RCV001216499

NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter)

SNV
Germline

Chr17:61780895

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400480352

rs_1356014648

3 SubmittersRCV001012932 RCV001873241 RCV003336237

NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val)

SNV
Germline

Chr17:61801300

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA8690803

rs_749251680

5 SubmittersRCV001017258 RCV001194725 RCV001217022 RCV004596389

NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)

SNV
Germline

Chr17:61808706

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA400485144

rs_45459799

6 SubmittersRCV004030873 RCV001025658 RCV001194704 RCV001210339 RCV002271613 RCV003160184

NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)

SNV
Germline

Chr17:61808721

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400485178

rs_1603346983

4 SubmittersRCV002236282 RCV005411637 RCV001025497 RCV001381445

NM_032043.3(BRIP1):c.189G>A (p.Trp63Ter)

SNV
Germline

Chr17:61859812

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485679

rs_1603367647

4 SubmittersRCV001013553 RCV001380153 RCV004030355

NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)

SNV
Germline

Chr17:61859813

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485684

rs_1603367649

4 SubmittersRCV001013464 RCV001574232 RCV003336239 RCV003769458

NM_000136.3(FANCC):c.686+1G>C

SNV
Germline

Chr9:95149922

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA374109508

rs_1057517125

3 SubmittersRCV001025741 RCV003461410 RCV003769612

NM_000136.3(FANCC):c.522-1G>C

SNV
Germline

Chr9:95150088

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia
Fanconi anemia complementation group C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA196573287

rs_1014112491

6 SubmittersRCV001023758 RCV001068005 RCV002479219 RCV003311932

NM_032043.3(BRIP1):c.2905+1G>T

SNV
Germline

Chr17:61685835

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400481087

rs_876660203

3 SubmittersRCV001016897 RCV003336248 RCV003989624

NM_032043.3(BRIP1):c.1795-1G>A

SNV
Germline

Chr17:61780402

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400480237

rs_1368457771

2 SubmittersRCV001013114 RCV002551764

NM_032043.3(BRIP1):c.1794+1G>A

SNV
Germline

Chr17:61780839

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA8690671

rs_766516963

5 SubmittersRCV001013194 RCV001228430 RCV003336238

NM_032043.3(BRIP1):c.1474-2A>G

SNV
Germline

Chr17:61784426

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400481799

rs_1603337052

3 SubmittersRCV001011737 RCV003336232 RCV001235018

NM_032043.3(BRIP1):c.627+1G>T

SNV
Germline

Chr17:61847100

Likely pathogenic

Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400482777

rs_587780833

3 SubmittersRCV001575112 RCV005225208 RCV001025065

NM_032043.3(BRIP1):c.508-1G>T

SNV
Germline

Chr17:61847221

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483481

rs_864622277

4 SubmittersRCV001023506 RCV003336261 RCV002497344

NM_018062.4(FANCL):c.378T>A (p.Leu126=)

SNV
Germline

Chr2:58204223

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group L

Criteria Provided
Conflicting Classifications

CA1670644

rs_746200741

2 SubmittersRCV001038280 RCV001142211

NM_018062.4(FANCL):c.36C>A (p.Cys12Ter)

SNV
Germline

Chr2:58241278

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347035163

rs_756487177

1 SubmittersRCV001044015

NM_018062.4(FANCL):c.2T>G (p.Met1Arg)

SNV
Germline

Chr2:58241312

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347035225

rs_761291501

1 SubmittersRCV001069191

NM_021922.3(FANCE):c.449T>C (p.Met150Thr)

SNV
Germline

Chr6:35455947

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3771411

rs_752797466

2 SubmittersRCV001040547 RCV003259045

NM_021922.3(FANCE):c.940C>T (p.Gln314Ter)

SNV
Germline

Chr6:35457955

Pathogenic/Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Multiple Submitters
No Conflicts

CA3771540

rs_760150539

2 SubmittersRCV001065359

NM_021922.3(FANCE):c.1349C>T (p.Thr450Ile)

SNV
Germline

Chr6:35460584

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3771684

rs_201970876

4 SubmittersRCV001048583 RCV001819762 RCV002552646

NM_004629.2(FANCG):c.769C>G (p.Arg257Gly)

SNV
Germline

Chr9:35076979

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Conflicting Classifications

CA373313390

rs_759314410

4 SubmittersRCV001046724 RCV001283830

NM_000136.3(FANCC):c.1194T>G (p.Ile398Met)

SNV
Germline

Chr9:95111598

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137422

rs_752274299

2 SubmittersRCV001061237 RCV002339300

NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)

SNV
Germline

Chr9:95125124

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374108870

rs_1825775052

3 SubmittersRCV001045963 RCV003462534 RCV002379526

NM_000136.3(FANCC):c.847C>T (p.Gln283Ter)

SNV
Germline

Chr9:95126578

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374109152

rs_1564667865

1 SubmittersRCV001037048

NM_000136.3(FANCC):c.451A>T (p.Lys151Ter)

SNV
Germline

Chr9:95172042

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374338703

rs_1825714345

1 SubmittersRCV001035894

NM_000136.3(FANCC):c.353T>G (p.Leu118Ter)

SNV
Germline

Chr9:95172140

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374338908

rs_1825725461

1 SubmittersRCV001054113

NM_000136.3(FANCC):c.139A>T (p.Lys47Ter)

SNV
Germline

Chr9:95249153

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374340247

rs_1831172189

1 SubmittersRCV001063564

NM_020937.4(FANCM):c.1395T>C (p.Asn465=)

SNV
Germline

Chr14:45155458

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA486138673

rs_1594773895

2 SubmittersRCV001046656 RCV005562538

NM_020937.4(FANCM):c.1432C>T (p.Arg478Ter)

SNV
Germline

Chr14:45159131

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA259618708

rs_552052505

2 SubmittersRCV001042509 RCV003117717

NM_020937.4(FANCM):c.1777C>T (p.Arg593Ter)

SNV
Germline

Chr14:45164554

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA259623298

rs_773014744

3 SubmittersRCV001040062 RCV004998590

NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter)

SNV
Germline

Chr14:45167040

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided
FANCM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7169176

rs_374626826

3 SubmittersRCV001070935 RCV001593251 RCV004528375

NM_020937.4(FANCM):c.2578G>T (p.Glu860Ter)

SNV
Germline

Chr14:45175332

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA389598153

rs_1383262366

2 SubmittersRCV001062579 RCV003317425

NM_020937.4(FANCM):c.3832C>T (p.Gln1278Ter)

SNV
Germline

Chr14:45176586

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389603223

rs_1888718087

1 SubmittersRCV001048639

NM_020937.4(FANCM):c.5647C>T (p.Gln1883Ter)

SNV
Germline

Chr14:45196478

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389586328

rs_1379375089

1 SubmittersRCV001041845

NM_032444.4(SLX4):c.4618G>A (p.Glu1540Lys)

SNV
Germline

Chr16:3589020

Conflicting classifications of pathogenicity

Fanconi anemia
Olaparib response
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7865581

rs_769950582

4 SubmittersRCV001053846 RCV003483767 RCV004720291

NM_032444.4(SLX4):c.4410G>A (p.Pro1470=)

SNV
Germline

Chr16:3589228

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7865645

rs_1555449966

3 SubmittersRCV001038273 RCV001194855 RCV005021349

NM_032444.4(SLX4):c.3955C>T (p.Gln1319Ter)

SNV
Germline

Chr16:3589683

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394518708

rs_2040556390

1 SubmittersRCV001037473

NM_032444.4(SLX4):c.3019C>A (p.Gln1007Lys)

SNV
Germline

Chr16:3590619

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866016

rs_138798067

4 SubmittersRCV001038907 RCV001194838 RCV003238277 RCV005021352

NM_032444.4(SLX4):c.1584C>G (p.Ser528Arg)

SNV
Germline

Chr16:3597478

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7866483

rs_139865448

3 SubmittersRCV001048919 RCV001293951 RCV004031531

NM_032444.4(SLX4):c.559C>T (p.Gln187Ter)

SNV
Germline

Chr16:3606675

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394546854

rs_2040788600

2 SubmittersRCV001065245 RCV002223984

NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter)

SNV
Germline

Chr16:89739215

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8250793

rs_745688750

2 SubmittersRCV001056395

NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)

SNV
Germline

Chr16:89749776

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251303

rs_140124051

4 SubmittersRCV001043224 RCV002481901 RCV003478673

NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)

SNV
Germline

Chr16:89761994

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8251497

rs_766643461

5 SubmittersRCV001066000 RCV001256277 RCV002274132

NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter)

SNV
Germline

Chr16:89765027

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397438801

rs_2039078843

5 SubmittersRCV001067317 RCV001256594

NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter)

SNV
Germline

Chr16:89765030

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8251607

rs_762804216

3 SubmittersRCV001038114 RCV001256503 RCV001293873

NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala)

SNV
Germline

Chr16:89773286

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA397449566

rs_147300317

4 SubmittersRCV001070981 RCV003478690 RCV005021424

NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe)

SNV
Germline

Chr16:89778831

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252067

rs_562319781

2 SubmittersRCV001051230 RCV002497402

NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)

SNV
Germline

Chr16:89778963

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252118

rs_201212806

6 SubmittersRCV001053106 RCV001120470

NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter)

SNV
Germline

Chr16:89784891

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397459793

rs_1432415523

1 SubmittersRCV001071452

NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter)

SNV
Germline

Chr16:89791444

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397463885

rs_2040073991

2 SubmittersRCV001037568 RCV005021347

NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu)

SNV
Germline

Chr16:89792065

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252510

rs_531100141

3 SubmittersRCV001051272 RCV002481962

NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys)

SNV
Germline

Chr16:89792476

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8252543

rs_375895456

3 SubmittersRCV001052881 RCV003478679

NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter)

SNV
Germline

Chr16:89792527

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA8252560

rs_755018069

4 SubmittersRCV001063647 RCV001256568

NM_000135.4(FANCA):c.944C>G (p.Pro315Arg)

SNV
Germline

Chr16:89795968

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252618

rs_764121307

4 SubmittersRCV001035133 RCV002481848 RCV005338502

NM_000135.4(FANCA):c.913C>T (p.His305Tyr)

SNV
Germline

Chr16:89795999

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252632

rs_774054025

3 SubmittersRCV001046595 RCV004973284

NM_000135.4(FANCA):c.664G>T (p.Glu222Ter)

SNV
Germline

Chr16:89805325

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397477913

rs_2040599267

2 SubmittersRCV001044309 RCV005055149

NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)

SNV
Germline

Chr16:89810792

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8253002

rs_141367100

7 SubmittersRCV001050638 RCV001331009 RCV002479313

NM_000135.4(FANCA):c.418G>T (p.Glu140Ter)

SNV
Germline

Chr16:89810937

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397480871

rs_2040853528

1 SubmittersRCV001044967

NM_000135.4(FANCA):c.207T>A (p.Cys69Ter)

SNV
Germline

Chr16:89814596

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397482589

rs_941660593

1 SubmittersRCV001057513

NM_000135.4(FANCA):c.91A>T (p.Lys31Ter)

SNV
Germline

Chr16:89815975

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397483745

rs_2041101553

1 SubmittersRCV001052431

NM_000135.4(FANCA):c.68C>G (p.Ala23Gly)

SNV
Germline

Chr16:89816548

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397484412

rs_776297241

2 SubmittersRCV001062373 RCV002555811

NM_007294.4(BRCA1):c.5551G>A (p.Asp1851Asn)

SNV
Germline

Chr17:43045719

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10590220

rs_2050862880

4 SubmittersRCV001058495 RCV001076394 RCV005359826

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
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10596796

rs_886038001

3 SubmittersRCV001069056 RCV003158415 RCV005021419

NM_058216.3(RAD51C):c.18C>G (p.Phe6Leu)

SNV
Germline

Chr17:58692661

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400336227

rs_774685897

2 SubmittersRCV001065676 RCV002411589

NM_058216.3(RAD51C):c.204T>A (p.Cys68Ter)

SNV
Germline

Chr17:58694989

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400340010

rs_1567785888

3 SubmittersRCV001043378 RCV003455176 RCV005432543

NM_058216.3(RAD51C):c.230G>C (p.Gly77Ala)

SNV
Germline

Chr17:58695015

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400340221

rs_1449359018

2 SubmittersRCV001053215 RCV003160420

NM_058216.3(RAD51C):c.249G>C (p.Lys83Asn)

SNV
Germline

Chr17:58695034

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA292048882

rs_145387081

3 SubmittersRCV001042595 RCV002427512 RCV002298854

NM_058216.3(RAD51C):c.561C>A (p.His187Gln)

SNV
Germline

Chr17:58696849

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400345465

rs_2048033583

2 SubmittersRCV001043648 RCV005470582

NM_032043.3(BRIP1):c.3478A>G (p.Asn1160Asp)

SNV
Germline

Chr17:61683568

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400478617

rs_2061305104

3 SubmittersRCV001046667 RCV005318584

NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter)

SNV
Germline

Chr17:61683879

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400479463

rs_1603275438

2 SubmittersRCV003142024 RCV001069273

NM_032043.3(BRIP1):c.3089C>T (p.Ala1030Val)

SNV
Germline

Chr17:61683957

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8690397

rs_767255426

2 SubmittersRCV001068006 RCV002320343

NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)

SNV
Germline

Chr17:61716029

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400479714

rs_2061855838

4 SubmittersRCV001040141 RCV002445225 RCV003336282

NM_032043.3(BRIP1):c.1694C>A (p.Ser565Ter)

SNV
Germline

Chr17:61780940

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400480449

rs_1603334619

1 SubmittersRCV001045191

NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter)

SNV
Germline

Chr17:61808613

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400484940

rs_1555609257

3 SubmittersRCV001044683 RCV003336286 RCV003307838

NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter)

SNV
Germline

Chr17:61861467

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485940

rs_2078971612

3 SubmittersRCV001036465 RCV003336278 RCV004030985

NM_001018113.3(FANCB):c.688C>T (p.Pro230Ser)

SNV
Germline

ChrX:14864823

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group B

Criteria Provided
Conflicting Classifications

CA10353179

rs_200970121

2 SubmittersRCV001048262 RCV005047243

NM_004629.2(FANCG):c.924+1G>A

SNV
Germline

Chr9:35076723

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373312729

rs_1829091761

1 SubmittersRCV001060677

NM_001113378.2(FANCI):c.3538-2A>T

SNV
Germline

Chr15:89307474

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393740742

rs_1407605188

1 SubmittersRCV001053088

NM_000135.4(FANCA):c.4261-2A>G

SNV
Germline

Chr16:89738710

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397483173

rs_915983602

4 SubmittersRCV001071454 RCV001256425

NM_000135.4(FANCA):c.4260+6G>T

SNV
Germline

Chr16:89738876

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8250664

rs_374793201

4 SubmittersRCV001050409 RCV002479310 RCV005428065

NM_000135.4(FANCA):c.3935-1G>A

SNV
Germline

Chr16:89739554

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397484880

rs_1555533693

2 SubmittersRCV001036272

NM_000135.4(FANCA):c.3626+1G>C

SNV
Germline

Chr16:89744958

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA286623538

rs_34885858

1 SubmittersRCV001057714

NM_000135.4(FANCA):c.793-1G>C

SNV
Germline

Chr16:89799639

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397473712

rs_1567642367

1 SubmittersRCV001036122

NM_000136.3(FANCC):c.1533+1G>T

SNV
Germline

Chr9:95107065

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374105469

rs_753885687

5 SubmittersRCV001063719 RCV001585965 RCV002402446

NM_000136.3(FANCC):c.345+1G>A

SNV
Germline

Chr9:95240648

Likely pathogenic

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374339147

rs_1175257797

3 SubmittersRCV001066919 RCV004950239

NM_032043.3(BRIP1):c.379+1G>T

SNV
Germline

Chr17:61857057

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA400485257

rs_1437158047

4 SubmittersRCV001066581 RCV002355086 RCV004720752 RCV005601678

NM_000135.4(FANCA):c.4168-2A>G

SNV
Germline

Chr16:89738976

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397483860

rs_1220672299

4 SubmittersRCV001071425 RCV001256418

NM_000135.4(FANCA):c.3240-1G>A

SNV
Germline

Chr16:89748768

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397486406

rs_2038478071

1 SubmittersRCV001051366

NM_000135.4(FANCA):c.710-5T>C

SNV
Germline

Chr16:89803346

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA916081863

rs_2040523640

3 SubmittersRCV001256223 RCV001052274

NM_020937.4(FANCM):c.682-2A>G

SNV
Germline

Chr14:45140630

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389589022

rs_1885847871

1 SubmittersRCV001065724

NM_058216.3(RAD51C):c.838-2A>T

SNV
Germline

Chr17:58720744

Likely pathogenic

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8677343

rs_748589398

2 SubmittersRCV001052617 RCV004031647

NM_032043.3(BRIP1):c.2575+1G>T

SNV
Germline

Chr17:61693429

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482300

rs_1567737536

3 SubmittersRCV001067981 RCV002429727 RCV003336304

NM_032043.3(BRIP1):c.1628+1G>C

SNV
Germline

Chr17:61784269

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400480843

rs_1438975574

5 SubmittersRCV001061987 RCV001179693 RCV003336300

NM_032043.3(BRIP1):c.508-2A>G

SNV
Germline

Chr17:61847222

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400483488

rs_876659707

3 SubmittersRCV001043236 RCV002339217

NM_000135.4(FANCA):c.1826+2T>A

SNV
Germline

Chr16:89778799

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397454265

rs_2039603867

1 SubmittersRCV001068973

NM_000135.4(FANCA):c.79+1G>A

SNV
Germline

Chr16:89816536

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397484371

rs_1483028018

1 SubmittersRCV001053503

NM_032043.3(BRIP1):c.2097+2T>A

SNV
Germline

Chr17:61776399

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400477943

rs_2077532634

4 SubmittersRCV001038016 RCV002249640 RCV003155964 RCV003307812

NM_007294.4(BRCA1):c.5056C>G (p.His1686Asp)

SNV
Germline

Chr17:43067626

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10591408

rs_1555579648

4 SubmittersRCV001076298 RCV004950275 RCV005411660

NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln)

SNV
Germline

Chr3:10065429

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
not specified
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA2250006

rs_755975980

4 SubmittersRCV001092963 RCV001325183 RCV002265942 RCV005036402

NM_022725.4(FANCF):c.970A>G (p.Lys324Glu)

SNV
Germline

Chr11:22624841

Conflicting classifications of pathogenicity

Fanconi anemia complementation group F
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA5924222

rs_200416138

3 SubmittersRCV001104344 RCV001306831

NC_000013.11:g.32315487G>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
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247478018

rs_1036870835

4 SubmittersRCV001111445 RCV001111446 RCV001425606 RCV002259082 RCV002511042

NM_000059.4(BRCA2):c.844C>G (p.His282Asp)

SNV
Germline

Chr13:32332322

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760509

rs_768605944

3 SubmittersRCV001113541 RCV001114948 RCV003158428 RCV005093518

NM_000059.4(BRCA2):c.1224G>A (p.Met408Ile)

SNV
Germline

Chr13:32332702

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762147

rs_1593892275

3 SubmittersRCV001112105 RCV001112106 RCV003158427

NM_000059.4(BRCA2):c.632-3C>T

SNV
Germline

Chr13:32329440

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA658795320

rs_568027879

4 SubmittersRCV001113539 RCV001113538 RCV001188038 RCV003530175

NM_001113378.2(FANCI):c.696A>T (p.Gly232=)

SNV
Germline

Chr15:89264548

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA492066228

rs_2052856419

2 SubmittersRCV001117327 RCV003769158

NM_001113378.2(FANCI):c.1017G>A (p.Lys339=)

SNV
Germline

Chr15:89274209

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA274553421

rs_72762644

4 SubmittersRCV001118939 RCV002255622 RCV004693731

NM_001113378.2(FANCI):c.2685G>A (p.Ser895=)

SNV
Germline

Chr15:89299848

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7723439

rs_145665176

3 SubmittersRCV001116091 RCV001458574

NM_001113378.2(FANCI):c.3162C>T (p.His1054=)

SNV
Germline

Chr15:89305218

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7723607

rs_746204528

2 SubmittersRCV001119127 RCV002069934

NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=)

SNV
Germline

Chr15:89306194

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA274526117

rs_964069381

2 SubmittersRCV001121117 RCV004809020

NM_005236.3(ERCC4):c.1740T>G (p.Leu580=)

SNV
Germline

Chr16:13935672

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome

Criteria Provided
Conflicting Classifications

CA278472140

rs_374556359

2 SubmittersRCV001119238 RCV002556538

NM_005236.3(ERCC4):c.2178C>T (p.Arg726=)

SNV
Germline

Chr16:13947774

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome

Criteria Provided
Conflicting Classifications

CA493689735

rs_1255618541

2 SubmittersRCV001121238 RCV001312489

NM_005236.3(ERCC4):c.2514T>C (p.Leu838=)

SNV
Germline

Chr16:13948110

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
ERCC4-related disorder
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA7910758

rs_200069811

3 SubmittersRCV001116323 RCV003898110 RCV002558148

NM_024675.4(PALB2):c.3402T>A (p.Ser1134=)

SNV
Germline

Chr16:23603618

Conflicting classifications of pathogenicity

Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA494173722

rs_1966403904

4 SubmittersRCV001121622 RCV001526131 RCV001201577

NM_032444.4(SLX4):c.5372G>A (p.Arg1791His)

SNV
Germline

Chr16:3582475

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7865330

rs_560381786

2 SubmittersRCV001116644 RCV001519833

NM_032444.4(SLX4):c.5325C>G (p.Pro1775=)

SNV
Germline

Chr16:3582522

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA493390549

rs_1596514559

2 SubmittersRCV001116647 RCV002069882

NM_032444.4(SLX4):c.3153A>G (p.Thr1051=)

SNV
Germline

Chr16:3590485

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA493391593

rs_1484366381

3 SubmittersRCV001116864 RCV002069887 RCV002556475

NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)

SNV
Germline

Chr16:89738684

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8250589

rs_748856769

6 SubmittersRCV001115282 RCV001207580 RCV002480486

NM_000135.4(FANCA):c.4128T>C (p.Val1376=)

SNV
Germline

Chr16:89739172

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA497379278

rs_1209384219

2 SubmittersRCV001115285 RCV001399560

NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)

SNV
Germline

Chr16:89739244

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA497379323

rs_2062057880

3 SubmittersRCV001118441 RCV002556516 RCV005562571

NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)

SNV
Germline

Chr16:89740085

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8250929

rs_768380959

3 SubmittersRCV001119966 RCV001428668

NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)

SNV
Germline

Chr16:89745060

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251104

rs_765106818

4 SubmittersRCV001115381 RCV001442079 RCV003478700 RCV004978026

NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)

SNV
Germline

Chr16:89746668

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251154

rs_146062039

4 SubmittersRCV001118523 RCV001506640 RCV005340643

NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)

SNV
Germline

Chr16:89748733

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251245

rs_772828870

5 SubmittersRCV001118525 RCV001240295 RCV004978029

NM_001113378.2(FANCI):c.1890+10A>G

SNV
Germline

Chr15:89290291

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7723196

rs_201954421

2 SubmittersRCV001117439 RCV002069897

NM_001113378.2(FANCI):c.2292-11G>C

SNV
Germline

Chr15:89293822

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7723345

rs_763570868

2 SubmittersRCV001121007 RCV002558200

NM_001113378.2(FANCI):c.3592-12C>T

SNV
Germline

Chr15:89307601

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA1139664150

rs_2054775391

2 SubmittersRCV001121119 RCV002556604

NM_005236.3(ERCC4):c.973+11A>T

SNV
Germline

Chr16:13930901

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
not specified
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7910316

rs_185779788

4 SubmittersRCV001121129 RCV001819831 RCV002069968 RCV003238307

NM_032444.4(SLX4):c.2328-11T>C

SNV
Germline

Chr16:3591321

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA620714009

rs_1390856264

2 SubmittersRCV001121833 RCV002069978

NM_000135.4(FANCA):c.4010+12C>T

SNV
Germline

Chr16:89739466

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA624454448

rs_1445940471

2 SubmittersRCV001118444 RCV003635942

NM_000135.4(FANCA):c.2152-13T>C

SNV
Germline

Chr16:89770647

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8251866

rs_752105563

2 SubmittersRCV001118624 RCV002069921

NM_000135.4(FANCA):c.1471-10C>G

SNV
Germline

Chr16:89783112

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8252299

rs_368356709

2 SubmittersRCV001116988 RCV002069890

NM_000135.4(FANCA):c.1226-12G>C

SNV
Germline

Chr16:89791548

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8252440

rs_36011345

2 SubmittersRCV001120262 RCV002069955

NM_032043.3(BRIP1):c.*4040T>A

SNV
Germline

Chr17:61679256

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292265725

rs_111580456

2 SubmittersRCV001127601 RCV003413934

NM_032043.3(BRIP1):c.-38C>T

SNV
Germline

Chr17:61863291

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292282217

rs_371225829

2 SubmittersRCV001122189 RCV001615119

NM_018062.4(FANCL):c.524C>T (p.Ala175Val)

SNV
Germline

Chr2:58198610

Conflicting classifications of pathogenicity

Fanconi anemia complementation group L
Inborn genetic diseases
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA1670591

rs_199966372

5 SubmittersRCV001142208 RCV004619523 RCV001366414

NM_001018115.3(FANCD2):c.552C>T (p.Asp184=)

SNV
Germline

Chr3:10039339

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA432429666

rs_2086806957

2 SubmittersRCV001144636 RCV003769695

NM_001018115.3(FANCD2):c.1830G>A (p.Val610=)

SNV
Germline

Chr3:10063794

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA432402111

rs_1447943740

2 SubmittersRCV001147383 RCV003523061

NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu)

SNV
Germline

Chr3:10065405

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2249998

rs_146509445

4 SubmittersRCV001148310 RCV002464398 RCV002070798

NM_001018115.3(FANCD2):c.3708T>C (p.Arg1236=)

SNV
Germline

Chr3:10090316

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2250490

rs_760054945

2 SubmittersRCV001145658 RCV002070758

NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=)

SNV
Germline

Chr3:10096424

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA432421744

rs_752376206

2 SubmittersRCV001148416 RCV001464345

NM_001018115.3(FANCD2):c.696-11A>G

SNV
Germline

Chr3:10041612

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2249329

rs_376488313

2 SubmittersRCV001146797 RCV001858966

NM_001018115.3(FANCD2):c.1278+5G>T

SNV
Germline

Chr3:10046728

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA70032505

rs_796652647

4 SubmittersRCV001151039 RCV001724256 RCV003155362

NM_021922.3(FANCE):c.937C>T (p.Leu313=)

SNV
Germline

Chr6:35457952

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E

Criteria Provided
Conflicting Classifications

CA3771539

rs_557021652

2 SubmittersRCV001152193

NM_021922.3(FANCE):c.1263T>C (p.Cys421=)

SNV
Germline

Chr6:35459707

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E

Criteria Provided
Conflicting Classifications

CA3771658

rs_747692546

2 SubmittersRCV001153479

NM_021922.3(FANCE):c.1317-11C>T

SNV
Germline

Chr6:35460541

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA3771677

rs_147572271

3 SubmittersRCV001156079 RCV002256691

NM_004629.2(FANCG):c.1155C>T (p.Pro385=)

SNV
Germline

Chr9:35075743

Conflicting classifications of pathogenicity

Fanconi anemia complementation group G
Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA464602795

rs_1217203217

3 SubmittersRCV001169043 RCV001429099 RCV004978082

NM_004629.2(FANCG):c.1002A>T (p.Leu334=)

SNV
Germline

Chr9:35076506

Conflicting classifications of pathogenicity

Fanconi anemia complementation group G
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA192694045

rs_984958735

2 SubmittersRCV001169047 RCV005562582

NM_004629.2(FANCG):c.999C>T (p.Asp333=)

SNV
Germline

Chr9:35076509

Conflicting classifications of pathogenicity

Fanconi anemia complementation group G
Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5039873

rs_762238437

5 SubmittersRCV001169048 RCV001456880 RCV003425976 RCV005340652

NM_004629.2(FANCG):c.292C>A (p.Arg98=)

SNV
Germline

Chr9:35078620

Conflicting classifications of pathogenicity

Fanconi anemia complementation group G
Inborn genetic diseases
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA464602891

rs_532525154

4 SubmittersRCV001166628 RCV004978076 RCV002558631 RCV004809028

NM_000136.3(FANCC):c.*96A>G

SNV
Germline

Chr9:95101611

Conflicting classifications of pathogenicity

Fanconi anemia complementation group C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196536463

rs_55687573

3 SubmittersRCV001167356 RCV001565827

NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)

SNV
Germline

ChrX:14843774

Conflicting classifications of pathogenicity

Fanconi anemia complementation group B
VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA515636815

rs_2092363086

2 SubmittersRCV001167741 RCV001167742 RCV003769816

NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)

SNV
Germline

ChrX:14857880

Conflicting classifications of pathogenicity

VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia complementation group B
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA10353107

rs_764156696

3 SubmittersRCV001167813 RCV001167814 RCV001409859

NM_001018113.3(FANCB):c.362G>A (p.Arg121His)

SNV
Germline

ChrX:14865149

Conflicting classifications of pathogenicity

Fanconi anemia complementation group B
VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10353213

rs_142289802

5 SubmittersRCV001165702 RCV001165703 RCV001511171 RCV003438696 RCV002558612

NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)

SNV
Germline

ChrX:14865315

Conflicting classifications of pathogenicity

Fanconi anemia complementation group B
VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA327063413

rs_943801800

3 SubmittersRCV001167290 RCV001167291 RCV001313286 RCV004546609

NM_001018113.3(FANCB):c.183C>T (p.Ser61=)

SNV
Germline

ChrX:14865328

Conflicting classifications of pathogenicity

VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia complementation group B
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA515637700

rs_1317100453

2 SubmittersRCV001167293 RCV001167292 RCV001466611

NM_004629.2(FANCG):c.1434-6C>T

SNV
Germline

Chr9:35075331

Conflicting classifications of pathogenicity

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA464413704

rs_1404150675

2 SubmittersRCV001168313 RCV001430903

NM_000135.4(FANCA):c.128T>G (p.Leu43Ter)

SNV
Germline

Chr16:89815938

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397483474

rs_1158456786

2 SubmittersRCV001873582 RCV001255877

NM_021922.3(FANCE):c.1509+1G>A

SNV
Germline

Chr6:35462915

Likely pathogenic

Fanconi anemia complementation group E

No Assertion Criteria Provided

CA137302662

rs_745877509

1 SubmittersRCV001255878

NM_002875.5(RAD51):c.391A>C (p.Thr131Pro)

SNV
Germline

Chr15:40709072

Pathogenic

Fanconi anemia complementation group R
Condition: not provided

No Assertion Criteria Provided

CA391751197

rs_1895530875

2 SubmittersRCV001172541 RCV001194791

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
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10594248

rs_142383077

5 SubmittersRCV001187213 RCV001373635 RCV005359911

NM_058216.3(RAD51C):c.7G>C (p.Gly3Arg)

SNV
Germline

Chr17:58692650

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400336093

rs_376403182

3 SubmittersRCV001188570 RCV003617911

NM_058216.3(RAD51C):c.247A>G (p.Lys83Glu)

SNV
Germline

Chr17:58695032

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400340360

rs_2047947712

3 SubmittersRCV001179235 RCV001372303

NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter)

SNV
Germline

Chr17:58696697

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400343714

rs_2048021234

7 SubmittersRCV001188165 RCV001862971 RCV004033379 RCV005394796 RCV005256747

NM_058216.3(RAD51C):c.606T>A (p.Asp202Glu)

SNV
Germline

Chr17:58703230

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400349275

rs_2048270218

3 SubmittersRCV001180456 RCV001316994

NM_058216.3(RAD51C):c.966G>A (p.Arg322=)

SNV
Germline

Chr17:58732484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400364830

rs_1567817289

2 SubmittersRCV001185464 RCV002560871

NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr)

SNV
Germline

Chr17:61683474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400478209

rs_2061301543

4 SubmittersRCV001190224 RCV001194756 RCV001363903

NM_032043.3(BRIP1):c.3196T>A (p.Ser1066Thr)

SNV
Germline

Chr17:61683850

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400479360

rs_1199327421

4 SubmittersRCV001187262 RCV001219207

NM_032043.3(BRIP1):c.2552A>G (p.Asn851Ser)

SNV
Germline

Chr17:61693453

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400482385

rs_2061477443

3 SubmittersRCV001179659 RCV003769946

NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp)

SNV
Germline

Chr17:61780318

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400480043

rs_1567812484

4 SubmittersRCV001179676 RCV001875945 RCV005253732

NM_032043.3(BRIP1):c.436A>G (p.Ile146Val)

SNV
Germline

Chr17:61849200

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400484502

rs_1567868598

3 SubmittersRCV001188273 RCV003770113

NM_032043.3(BRIP1):c.2098-13T>G

SNV
Germline

Chr17:61744604

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA985268002

rs_2077035315

2 SubmittersRCV001184397 RCV002559059

NM_058216.3(RAD51C):c.905-13T>G

SNV
Germline

Chr17:58724027

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA913188895

rs_2049019457

2 SubmittersRCV001176387 RCV003769878

NM_032043.3(BRIP1):c.1795-17A>G

SNV
Germline

Chr17:61780418

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913187807

rs_1567812766

2 SubmittersRCV001187416 RCV003117825

NM_032043.3(BRIP1):c.1474-14G>A

SNV
Germline

Chr17:61784438

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA913187813

rs_2077673537

2 SubmittersRCV001188187 RCV002559146

NM_058216.3(RAD51C):c.389G>C (p.Gly130Ala)

SNV
Germline

Chr17:58695174

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400341963

rs_2047958982

4 SubmittersRCV001193599 RCV002356866 RCV002561015 RCV005245783

NM_032043.3(BRIP1):c.2804T>C (p.Val935Ala)

SNV
Germline

Chr17:61685937

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400481497

rs_4988356

3 SubmittersRCV001194202 RCV001348251 RCV005532859

NM_032043.3(BRIP1):c.2493-10T>A

SNV
Germline

Chr17:61693522

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690495

rs_776255327

5 SubmittersRCV001194201 RCV001473865 RCV001525934 RCV005601699

NM_032043.3(BRIP1):c.3661C>G (p.Leu1221Val)

SNV
Germline

Chr17:61683385

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400477876

rs_2061298344

3 SubmittersRCV001194759 RCV003770189 RCV004950304

NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter)

SNV
Germline

Chr17:61685902

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400481374

rs_2061353270

4 SubmittersRCV001194732 RCV001863070 RCV002436768

NM_032043.3(BRIP1):c.1629-498A>T

SNV
Germline

Chr17:61781503

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA773808604

rs_1203185416

3 SubmittersRCV001194751 RCV004033447 RCV005394803

NM_032043.3(BRIP1):c.765G>T (p.Gln255His)

SNV
Germline

Chr17:61808620

Pathogenic

Fanconi anemia complementation group J

No Assertion Criteria Provided

CA400484955

rs_2078111971

1 SubmittersRCV001194716

NM_032043.3(BRIP1):c.205+5G>T

SNV
Germline

Chr17:61859791

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA913187501

rs_2078948368

3 SubmittersRCV001194698 RCV002290629 RCV002561022

NM_022725.4(FANCF):c.496C>T (p.Gln166Ter)

SNV
Germline

Chr11:22625315

Pathogenic

Fanconi anemia complementation group F

Criteria Provided
Single Submitter

CA380058924

rs_766279442

2 SubmittersRCV001194787

NM_021922.3(FANCE):c.91C>T (p.Gln31Ter)

SNV
Germline

Chr6:35452636

Pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363770085

rs_1767152512

2 SubmittersRCV001194795

NM_021922.3(FANCE):c.248+1G>A

SNV
Germline

Chr6:35452794

Pathogenic/Likely pathogenic

Fanconi anemia complementation group E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA363770981

rs_1480350743

5 SubmittersRCV001194796 RCV003163493

NM_021922.3(FANCE):c.1510-1G>A

SNV
Germline

Chr6:35466243

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E

Criteria Provided
Conflicting Classifications

CA3771751

rs_772678337

3 SubmittersRCV001194814

NM_032444.4(SLX4):c.1538G>A (p.Trp513Ter)

SNV
Germline

Chr16:3597524

Pathogenic

Fanconi anemia complementation group P

No Assertion Criteria Provided

CA7866495

rs_761314760

1 SubmittersRCV001194872

NM_032444.4(SLX4):c.1367-2A>G

SNV
Germline

Chr16:3597697

Pathogenic

Fanconi anemia complementation group P

No Assertion Criteria Provided

CA394529223

rs_2040679706

1 SubmittersRCV001194849

NM_001018115.3(FANCD2):c.206-2A>T

SNV
Germline

Chr3:10034467

Pathogenic

Fanconi anemia complementation group D2

No Assertion Criteria Provided

CA2249148

rs_771573600

1 SubmittersRCV001194900

NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly)

SNV
Germline

Chr3:10034797

Pathogenic

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA2249182

rs_764507146

5 SubmittersRCV001194901 RCV003635944

NM_001018115.3(FANCD2):c.692T>G (p.Leu231Arg)

SNV
Germline

Chr3:10039842

Pathogenic

Fanconi anemia complementation group D2

No Assertion Criteria Provided

CA351725341

rs_2086819957

1 SubmittersRCV001194903

NM_001018115.3(FANCD2):c.696-121C>G

SNV
Germline

Chr3:10041502

Likely pathogenic

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA1139657889

rs_2086862509

3 SubmittersRCV001194904 RCV004526811

NM_001018115.3(FANCD2):c.696-2A>T

SNV
Germline

Chr3:10041621

Pathogenic

Fanconi anemia complementation group D2

No Assertion Criteria Provided

CA351725979

rs_2086865333

1 SubmittersRCV001194905

NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)

SNV
Germline

Chr3:10041709

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2249347

rs_778289599

5 SubmittersRCV001194907 RCV002466629 RCV002561024

NM_001018115.3(FANCD2):c.1092G>A (p.Trp364Ter)

SNV
Germline

Chr3:10043586

Pathogenic

Fanconi anemia complementation group D2

No Assertion Criteria Provided

CA351731012

rs_2086921262

1 SubmittersRCV001194910

NM_001018115.3(FANCD2):c.1278+6T>C

SNV
Germline

Chr3:10046729

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA2249573

rs_779894573

2 SubmittersRCV001194911

NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe)

SNV
Germline

Chr3:10047917

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2249596

rs_529893298

4 SubmittersRCV001194912 RCV002256693

NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro)

SNV
Germline

Chr3:10048008

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351736439

rs_1181436417

2 SubmittersRCV001194916

NM_001018115.3(FANCD2):c.1948-16T>G

SNV
Germline

Chr3:10064340

Pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA1139657884

rs_2087653225

2 SubmittersRCV001194920

NM_001018115.3(FANCD2):c.1948-6C>A

SNV
Germline

Chr3:10064350

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D2
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2249902

rs_779350241

4 SubmittersRCV001194921 RCV002282477 RCV001531561

NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter)

SNV
Germline

Chr3:10067227

Pathogenic

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Single Submitter

CA351737695

rs_1374735618

2 SubmittersRCV001194922 RCV003523079

NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter)

SNV
Germline

Chr3:10092206

Pathogenic

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA2250524

rs_757499508

5 SubmittersRCV001194933 RCV002255624

NM_004629.2(FANCG):c.1763C>T (p.Ser588Phe)

SNV
Germline

Chr9:35074214

Pathogenic

Fanconi anemia complementation group G

No Assertion Criteria Provided

CA373300092

rs_1420316004

1 SubmittersRCV001194978

NM_004629.2(FANCG):c.1761-1G>C

SNV
Germline

Chr9:35074217

Pathogenic

Fanconi anemia complementation group G

No Assertion Criteria Provided

CA373300161

rs_1829035889

2 SubmittersRCV001194976

NM_004629.2(FANCG):c.1761-1G>A

SNV
Germline

Chr9:35074217

Pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

CA373300165

rs_1829035889

2 SubmittersRCV001194977

NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter)

SNV
Germline

Chr9:35074416

Pathogenic/Likely pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA373300665

rs_1829041127

3 SubmittersRCV001194973 RCV002561027

NM_004629.2(FANCG):c.1636G>C (p.Gly546Arg)

SNV
Germline

Chr9:35074927

Pathogenic

Fanconi anemia complementation group G

No Assertion Criteria Provided

CA373303189

rs_766086210

1 SubmittersRCV001194969

NM_004629.2(FANCG):c.1562G>A (p.Gly521Glu)

SNV
Germline

Chr9:35075001

Pathogenic

Fanconi anemia complementation group G

No Assertion Criteria Provided

CA373304196

rs_1829055917

1 SubmittersRCV001194967

NM_004629.2(FANCG):c.1561G>T (p.Gly521Ter)

SNV
Germline

Chr9:35075002

Pathogenic

Fanconi anemia complementation group G

No Assertion Criteria Provided

CA373304200

rs_1829055945

1 SubmittersRCV001194966

NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter)

SNV
Germline

Chr9:35075035

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

CA373304628

rs_1829056657

2 SubmittersRCV001194964

NM_004629.2(FANCG):c.1433+1G>A

SNV
Germline

Chr9:35075464

Likely pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Single Submitter

CA373306406

rs_1829065047

2 SubmittersRCV001194963 RCV001863077

NM_004629.2(FANCG):c.1144-1G>C

SNV
Germline

Chr9:35075755

Pathogenic/Likely pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA373309775

rs_755363896

4 SubmittersRCV001194959 RCV005094038

NM_004629.2(FANCG):c.1143+5G>A

SNV
Germline

Chr9:35075957

Pathogenic

Fanconi anemia complementation group G

No Assertion Criteria Provided

CA1139660967

rs_778328620

1 SubmittersRCV001194958

NM_004629.2(FANCG):c.778-1G>C

SNV
Germline

Chr9:35076871

Pathogenic/Likely pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA5039943

rs_767518932

3 SubmittersRCV001194952 RCV001863075

NM_004629.2(FANCG):c.646+1G>T

SNV
Germline

Chr9:35077263

Pathogenic/Likely pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA192695046

rs_1028569753

4 SubmittersRCV001194950 RCV001379896

NM_004629.2(FANCG):c.572T>G (p.Leu191Ter)

SNV
Germline

Chr9:35077338

Pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA373314114

rs_755361015

4 SubmittersRCV001194948 RCV001381185

NM_004629.2(FANCG):c.565G>T (p.Glu189Ter)

SNV
Germline

Chr9:35077345

Pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Single Submitter

CA373314130

rs_1829104194

2 SubmittersRCV001194947 RCV002561026

NM_004629.2(FANCG):c.256C>T (p.Gln86Ter)

SNV
Germline

Chr9:35078656

Likely pathogenic

Fanconi anemia complementation group G
Pituitary stalk interruption syndrome
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA373315251

rs_1829129603

3 SubmittersRCV001194943 RCV001257285 RCV002258150

NM_004629.2(FANCG):c.212T>C (p.Leu71Pro)

SNV
Germline

Chr9:35078700

Pathogenic/Likely pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA373315399

rs_1829130135

3 SubmittersRCV001194940 RCV002271629

NM_004629.2(FANCG):c.175+1G>A

SNV
Germline

Chr9:35079150

Pathogenic/Likely pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA192696962

rs_927868500

4 SubmittersRCV001194938 RCV001863074

NM_004629.2(FANCG):c.118C>T (p.Gln40Ter)

SNV
Germline

Chr9:35079208

Pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA5040133

rs_776122485

5 SubmittersRCV001194936 RCV002560181

NM_004629.2(FANCG):c.85-1G>A

SNV
Germline

Chr9:35079242

Likely pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA373315827

rs_1052044702

3 SubmittersRCV001194935 RCV003770190

NM_004629.2(FANCG):c.65G>C (p.Arg22Pro)

SNV
Germline

Chr9:35079460

Pathogenic

Fanconi anemia complementation group G

No Assertion Criteria Provided

CA373315913

rs_1829144428

1 SubmittersRCV001194946

NM_001113378.2(FANCI):c.2T>C (p.Met1Thr)

SNV
Germline

Chr15:89247649

Pathogenic

Fanconi anemia complementation group I

No Assertion Criteria Provided

CA393736267

rs_2052048258

2 SubmittersRCV001194980

NM_001113378.2(FANCI):c.157+78G>A

SNV
Germline

Chr15:89258854

Pathogenic

Fanconi anemia complementation group I

No Assertion Criteria Provided

CA274534364

rs_963339667

1 SubmittersRCV001194981

NM_001113378.2(FANCI):c.1264G>C (p.Gly422Arg)

SNV
Germline

Chr15:89276862

Pathogenic

Fanconi anemia complementation group I

No Assertion Criteria Provided

CA393742505

rs_146040966

1 SubmittersRCV001194993

NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter)

SNV
Germline

Chr15:89283149

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA393744918

rs_1347292940

3 SubmittersRCV001194995 RCV003462669 RCV003635946

NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)

SNV
Germline

Chr15:89285201

Pathogenic/Likely pathogenic

Gastric cancer
Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA393745974

rs_1432325198

4 SubmittersRCV001194996 RCV002484061 RCV003523081

NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter)

SNV
Germline

Chr15:89290231

Pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA7723177

rs_551399966

5 SubmittersRCV001194997 RCV002560182

NM_001113378.2(FANCI):c.2248T>C (p.Cys750Arg)

SNV
Germline

Chr15:89293020

Pathogenic

Fanconi anemia complementation group I

No Assertion Criteria Provided

CA393749427

rs_2054124504

1 SubmittersRCV001194998

NM_001113378.2(FANCI):c.2572C>T (p.His858Tyr)

SNV
Germline

Chr15:89295030

Pathogenic

Fanconi anemia complementation group I

No Assertion Criteria Provided

CA393750964

rs_1361710673

1 SubmittersRCV001194999

NM_001113378.2(FANCI):c.3006+3A>G

SNV
Germline

Chr15:89301445

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA716866297

rs_1294973649

3 SubmittersRCV001195000

NM_001113378.2(FANCI):c.3058+1G>A

SNV
Germline

Chr15:89303916

Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA7723569

rs_149464307

3 SubmittersRCV001195001 RCV002560183

NM_001113378.2(FANCI):c.3350-88A>G

SNV
Germline

Chr15:89305919

Pathogenic

Fanconi anemia complementation group I

No Assertion Criteria Provided

CA1139664148

rs_2054700381

2 SubmittersRCV001195003

NM_001113378.2(FANCI):c.3521C>T (p.Thr1174Ile)

SNV
Germline

Chr15:89306178

Pathogenic

Fanconi anemia complementation group I

No Assertion Criteria Provided

CA393740701

rs_757106031

1 SubmittersRCV001194984

NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)

SNV
Germline

Chr15:89315360

Pathogenic

Fanconi anemia complementation group I
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274534332

rs_551305056

5 SubmittersRCV001194987 RCV001382026 RCV003222250

NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)

SNV
Germline

Chr16:89742900

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Premature ovarian failure

Criteria Provided
Conflicting Classifications

CA8251027

rs_374537936

5 SubmittersRCV001246139 RCV001751356 RCV001824931 RCV001270236

NM_000136.3(FANCC):c.1494T>G (p.Ala498=)

SNV
Germline

Chr9:95107105

Pathogenic

Fanconi anemia complementation group C

No Assertion Criteria Provided

CA466092267

rs_76895298

1 SubmittersRCV001195058

NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)

SNV
Germline

Chr9:95111584

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374107471

rs_2071939263

2 SubmittersRCV001195057

NM_000136.3(FANCC):c.1155-1G>C

SNV
Germline

Chr9:95111638

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374107587

rs_1554829575

6 SubmittersRCV001195056 RCV001859174 RCV003238842 RCV004619545

NM_000136.3(FANCC):c.996G>A (p.Gln332=)

SNV
Germline

Chr9:95125086

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA466099560

rs_1825770865

2 SubmittersRCV001195052

NM_018062.4(FANCL):c.1092G>A (p.Lys364=)

SNV
Germline

Chr2:58160108

Pathogenic

Fanconi anemia complementation group L
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA1670313

rs_577063114

9 SubmittersRCV001195068 RCV001381353

NM_018062.4(FANCL):c.375-2033C>G

SNV
Germline

Chr2:58206259

Conflicting classifications of pathogenicity

Fanconi anemia complementation group L
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA1139657035

rs_1690571577

3 SubmittersRCV001195064 RCV001863081

NM_058216.3(RAD51C):c.1028C>G (p.Pro343Arg)

SNV
Germline

Chr17:58734119

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400365811

rs_2049559202

2 SubmittersRCV001197967 RCV002379754

NM_058216.3(RAD51C):c.837+1G>C

SNV
Germline

Chr17:58709991

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Gastric cancer
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400354549

rs_760235677

6 SubmittersRCV001199931 RCV003163505 RCV003163504 RCV001378839 RCV004033484

NM_001113378.2(FANCI):c.2457-2A>G

SNV
Germline

Chr15:89294913

Likely pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA393750563

rs_2054196709

2 SubmittersRCV001200104 RCV003635947

NM_000059.4(BRCA2):c.3816G>C (p.Met1272Ile)

SNV
Germline

Chr13:32338171

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778465

rs_1469541725

3 SubmittersRCV003158527 RCV001535557 RCV001220912

NM_020937.4(FANCM):c.679C>T (p.Gln227Ter)

SNV
Germline

Chr14:45137239

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389588981

rs_1209536013

1 SubmittersRCV001220858

NM_001113378.2(FANCI):c.3562G>A (p.Gly1188Arg)

SNV
Germline

Chr15:89307500

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7723767

rs_772739034

3 SubmittersRCV001216607 RCV005340680

NM_032444.4(SLX4):c.4873C>T (p.His1625Tyr)

SNV
Germline

Chr16:3583377

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7865482

rs_145527531

3 SubmittersRCV001219517 RCV002491684 RCV004671269

NM_032444.4(SLX4):c.3009G>C (p.Glu1003Asp)

SNV
Germline

Chr16:3590629

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866020

rs_142047326

3 SubmittersRCV001214619 RCV005492967 RCV005012619

NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter)

SNV
Germline

Chr16:89745031

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA8251096

rs_770393751

1 SubmittersRCV001224011

NM_000135.4(FANCA):c.667G>A (p.Ala223Thr)

SNV
Germline

Chr16:89805322

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252862

rs_771195871

2 SubmittersRCV001216649 RCV004978123

NM_032043.3(BRIP1):c.1878A>C (p.Glu626Asp)

SNV
Germline

Chr17:61780318

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400480044

rs_1567812484

2 SubmittersRCV001217442 RCV002411805

NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter)

SNV
Germline

Chr17:61861474

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485956

rs_1603368431

3 SubmittersRCV001216804 RCV003336341 RCV004601396

NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter)

SNV
Germline

Chr2:58198660

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347033992

rs_1689679880

1 SubmittersRCV001202568

NM_018062.4(FANCL):c.3G>A (p.Met1Ile)

SNV
Germline

Chr2:58241311

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347035224

rs_1694527909

1 SubmittersRCV001205714

NM_001018115.3(FANCD2):c.144T>A (p.Phe48Leu)

SNV
Germline

Chr3:10032911

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA2249117

rs_750534583

3 SubmittersRCV001208882 RCV002497716 RCV003153944

NM_000136.3(FANCC):c.1655A>G (p.Lys552Arg)

SNV
Germline

Chr9:95101729

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374104260

rs_1197938479

5 SubmittersRCV001206075 RCV001732071 RCV001819893 RCV002402596

NM_000136.3(FANCC):c.323C>G (p.Ser108Ter)

SNV
Germline

Chr9:95240671

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374339233

rs_1830581816

1 SubmittersRCV001206519

NM_020937.4(FANCM):c.6096A>G (p.Ile2032Met)

SNV
Germline

Chr14:45199957

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7170130

rs_139343255

3 SubmittersRCV001204811 RCV001760166 RCV004619548

NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys)

SNV
Germline

Chr16:13947844

Conflicting classifications of pathogenicity

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Spastic ataxia

Criteria Provided
Conflicting Classifications

CA7910710

rs_374978891

2 SubmittersRCV001211525 RCV001644951

NM_032444.4(SLX4):c.2749G>A (p.Ala917Thr)

SNV
Germline

Chr16:3590889

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7866082

rs_148428054

3 SubmittersRCV001202647 RCV002504231 RCV004033545

NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter)

SNV
Germline

Chr16:89764958

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397438191

rs_2039076227

1 SubmittersRCV001204408

NM_000135.4(FANCA):c.2662G>A (p.Val888Ile)

SNV
Germline

Chr16:89765006

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251600

rs_774863156

5 SubmittersRCV001204506 RCV004978097 RCV002480666 RCV003478731

NM_000135.4(FANCA):c.2437C>T (p.Pro813Ser)

SNV
Germline

Chr16:89769904

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397443422

rs_2039263207

2 SubmittersRCV001206646 RCV005550170

NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)

SNV
Germline

Chr16:89779939

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8252182

rs_779745863

5 SubmittersRCV001205456 RCV001256252 RCV003393883

NM_000135.4(FANCA):c.2T>G (p.Met1Arg)

SNV
Germline

Chr16:89816614

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397484671

rs_769479800

2 SubmittersRCV001202859 RCV001256436

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
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA057693

rs_561988641

6 SubmittersRCV001201414 RCV001528872 RCV003158450 RCV005359929

NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe)

SNV
Germline

Chr17:58695189

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400342162

rs_767796996

3 SubmittersRCV001212223 RCV002322030 RCV004033846

NM_058216.3(RAD51C):c.565G>T (p.Gly189Ter)

SNV
Germline

Chr17:58696853

Pathogenic

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400345495

rs_1330937621

2 SubmittersRCV001207027 RCV002348676

NM_032043.3(BRIP1):c.3427G>A (p.Asp1143Asn)

SNV
Germline

Chr17:61683619

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400478753

rs_1217932471

2 SubmittersRCV001210482 RCV004950340

NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu)

SNV
Germline

Chr17:61685874

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400481250

rs_761639530

5 SubmittersRCV001206417 RCV001819895 RCV002436795 RCV003442769

NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter)

SNV
Germline

Chr17:61801408

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Gastric cancer

Criteria Provided
Single Submitter

CA400484175

rs_2077991700

2 SubmittersRCV001205614 RCV003163558

NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter)

SNV
Germline

Chr17:61859840

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485738

rs_2078949879

3 SubmittersRCV001204419 RCV002402586 RCV004796371

NM_001018113.3(FANCB):c.458T>A (p.Ile153Asn)

SNV
Germline

ChrX:14865053

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
Fanconi anemia complementation group B

Criteria Provided
Conflicting Classifications

CA10353204

rs_749099779

3 SubmittersRCV001212847 RCV002561798 RCV005040024

NM_001018115.3(FANCD2):c.1413+2T>C

SNV
Germline

Chr3:10048053

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351736789

rs_1459222478

1 SubmittersRCV001210618

NM_020937.4(FANCM):c.4780-2A>G

SNV
Germline

Chr14:45188800

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389610555

rs_1889569618

1 SubmittersRCV001209303

NM_005236.3(ERCC4):c.793-2A>G

SNV
Germline

Chr16:13930708

Pathogenic

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome

Criteria Provided
Single Submitter

CA394803715

rs_2032155264

1 SubmittersRCV001212995

NM_000135.4(FANCA):c.3627-1G>C

SNV
Germline

Chr16:89742939

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397485558

rs_2062172440

1 SubmittersRCV001213212

NM_032043.3(BRIP1):c.2576-1G>T

SNV
Germline

Chr17:61686166

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482018

rs_587782539

4 SubmittersRCV001205350 RCV001785795 RCV003336332

NM_032444.4(SLX4):c.1164-9G>A

SNV
Germline

Chr16:3598008

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA1139664453

rs_2040686112

2 SubmittersRCV001220683

NM_000135.4(FANCA):c.3513+1G>A

SNV
Germline

Chr16:89746583

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397485816

rs_1188082371

2 SubmittersRCV001215793 RCV003462732

NM_000135.4(FANCA):c.1470+2T>C

SNV
Germline

Chr16:89784852

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA397459553

rs_2039844134

5 SubmittersRCV001215768 RCV002497735 RCV004726975

NM_000135.4(FANCA):c.284-1G>C

SNV
Germline

Chr16:89811072

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397481123

rs_781216924

1 SubmittersRCV001222540

NM_058216.3(RAD51C):c.405-2A>G

SNV
Germline

Chr17:58696691

Pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA400343627

rs_2048020646

1 SubmittersRCV001214672

NM_032043.3(BRIP1):c.2257+1G>A

SNV
Germline

Chr17:61744431

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400482802

rs_2077029293

1 SubmittersRCV001224744

NM_001018115.3(FANCD2):c.3541C>T (p.Gln1181Ter)

SNV
Germline

Chr3:10088523

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351753168

rs_1694376599

1 SubmittersRCV001238768

NM_021922.3(FANCE):c.967C>T (p.Gln323Ter)

SNV
Germline

Chr6:35457982

Pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363775010

rs_1767417868

1 SubmittersRCV001237507

NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu)

SNV
Germline

Chr9:95111548

Conflicting classifications of pathogenicity

Fanconi anemia
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA374107388

rs_550462055

4 SubmittersRCV001237810 RCV001356399 RCV002393604 RCV001278783

NM_020937.4(FANCM):c.3640G>A (p.Val1214Met)

SNV
Germline

Chr14:45176394

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA389602407

rs_1888701877

4 SubmittersRCV001231339 RCV003225162 RCV005328621

NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)

SNV
Germline

Chr16:89779950

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252184

rs_200922390

4 SubmittersRCV001225538 RCV001563817

NM_000135.4(FANCA):c.70G>T (p.Glu24Ter)

SNV
Germline

Chr16:89816546

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397484403

rs_1311396994

1 SubmittersRCV001234856

NM_058216.3(RAD51C):c.1085C>T (p.Ser362Phe)

SNV
Germline

Chr17:58734176

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400366345

rs_2049564336

2 SubmittersRCV001225593 RCV002429956

NM_032043.3(BRIP1):c.3337A>G (p.Lys1113Glu)

SNV
Germline

Chr17:61683709

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400478952

rs_2061310712

3 SubmittersRCV001227649 RCV002322099

NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter)

SNV
Germline

Chr17:61744460

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400482907

rs_2077030288

3 SubmittersRCV001232702 RCV003336352 RCV004601415

NM_032043.3(BRIP1):c.1069G>T (p.Glu357Ter)

SNV
Germline

Chr17:61801324

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8690810

rs_769081927

2 SubmittersRCV001234612 RCV002411870

NM_032043.3(BRIP1):c.393A>C (p.Lys131Asn)

SNV
Germline

Chr17:61849243

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400484589

rs_2078781577

2 SubmittersRCV001231551 RCV002375233

NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala)

SNV
Germline

Chr9:35074429

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA5039649

rs_750212705

4 SubmittersRCV001242335 RCV001835125 RCV003153956

NM_004629.2(FANCG):c.1082G>A (p.Gly361Glu)

SNV
Germline

Chr9:35076023

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA373310348

rs_1276088946

3 SubmittersRCV001241009 RCV001834137 RCV005340718

NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)

SNV
Germline

Chr9:35076532

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA5039875

rs_754484649

5 SubmittersRCV001241021 RCV002466647 RCV002484321

NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg)

SNV
Germline

Chr9:95111482

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374107260

rs_912537449

5 SubmittersRCV001246013 RCV001586088 RCV002484373 RCV002379941

NM_020937.4(FANCM):c.1456C>T (p.Arg486Ter)

SNV
Germline

Chr14:45159155

Pathogenic/Likely pathogenic

Fanconi anemia
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA259618717

rs_1011870043

3 SubmittersRCV001240097 RCV002258173 RCV001838462

NM_032444.4(SLX4):c.4156C>T (p.Gln1386Ter)

SNV
Germline

Chr16:3589482

Pathogenic/Likely pathogenic

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA394518309

rs_1374549534

2 SubmittersRCV005012670 RCV001239888

NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)

SNV
Germline

Chr16:89738669

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8250583

rs_374984587

6 SubmittersRCV001245328 RCV001578976 RCV004998769

NM_000135.4(FANCA):c.3754G>C (p.Glu1252Gln)

SNV
Germline

Chr16:89742811

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397485296

rs_766875357

2 SubmittersRCV001247381 RCV005340730

NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)

SNV
Germline

Chr16:89745029

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251095

rs_748713183

6 SubmittersRCV001244123 RCV002480822 RCV003230651 RCV004692312

NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)

SNV
Germline

Chr16:89767187

Pathogenic

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397440586

rs_761469030

4 SubmittersRCV001246892 RCV003117864 RCV001780186

NM_000135.4(FANCA):c.2009G>A (p.Arg670His)

SNV
Germline

Chr16:89773276

Conflicting classifications of pathogenicity

FANCA-related disorder
Inborn genetic diseases
Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA286568108

rs_537923341

5 SubmittersRCV004743347 RCV004978182 RCV001330799 RCV001239057

NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)

SNV
Germline

Chr16:89773321

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA397449925

rs_1306842168

5 SubmittersRCV001243575 RCV003478751 RCV002480819 RCV004743356

NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)

SNV
Germline

Chr16:89803314

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252822

rs_555519520

3 SubmittersRCV001243722 RCV002504349

NM_000135.4(FANCA):c.604G>A (p.Asp202Asn)

SNV
Germline

Chr16:89805385

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252880

rs_779131886

3 SubmittersRCV001246535 RCV005340727

NM_000135.4(FANCA):c.39G>C (p.Gln13His)

SNV
Germline

Chr16:89816577

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397484523

rs_1486155993

3 SubmittersRCV001246397 RCV004978207

NM_058216.3(RAD51C):c.274G>T (p.Glu92Ter)

SNV
Germline

Chr17:58695059

Pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA400340725

rs_765304898

1 SubmittersRCV001245831

NM_032043.3(BRIP1):c.2575G>A (p.Gly859Arg)

SNV
Germline

Chr17:61693430

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400482306

rs_2061476512

4 SubmittersRCV001243419 RCV002430034 RCV003478750

NM_020937.4(FANCM):c.1051-2A>T

SNV
Germline

Chr14:45153918

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389590764

rs_1886997142

1 SubmittersRCV001234488

NM_020937.4(FANCM):c.2002+5A>G

SNV
Germline

Chr14:45167168

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA962640334

rs_1888042696

3 SubmittersRCV001228923 RCV001587257 RCV004545133

NM_020937.4(FANCM):c.4318-1G>A

SNV
Germline

Chr14:45181636

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7169696

rs_752228025

3 SubmittersRCV001233917 RCV001773527

NM_001113378.2(FANCI):c.3255+1G>C

SNV
Germline

Chr15:89305410

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

CA7723649

rs_779079622

2 SubmittersRCV001232704 RCV003469419

NM_000135.4(FANCA):c.3765+2C>T

SNV
Germline

Chr16:89742798

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA8250996

rs_776827467

2 SubmittersRCV001237762 RCV003469445

NM_000135.4(FANCA):c.1084-1G>A

SNV
Germline

Chr16:89792069

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397466436

rs_2040094761

1 SubmittersRCV001232390

NM_000135.4(FANCA):c.3349-2A>G

SNV
Germline

Chr16:89746892

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397486170

rs_2038409874

2 SubmittersRCV001239097 RCV001780176

NM_000135.4(FANCA):c.1006+4G>C

SNV
Germline

Chr16:89795902

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8252596

rs_201771215

4 SubmittersRCV001246541 RCV003478754

NM_000135.4(FANCA):c.4261-3C>G

SNV
Germline

Chr16:89738711

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA624454243

rs_765478990

1 SubmittersRCV001256424

NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro)

SNV
Germline

Chr16:89738947

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA286614345

rs_749574677

1 SubmittersRCV001256420

NM_000135.4(FANCA):c.4168-1G>C

SNV
Germline

Chr16:89738975

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397483857

rs_2062047006

1 SubmittersRCV001256419

NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter)

SNV
Germline

Chr16:89739170

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8250777

rs_199599393

4 SubmittersRCV001256416 RCV001844280

NM_000135.4(FANCA):c.4080G>C (p.Met1360Ile)

SNV
Germline

Chr16:89739220

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397484490

rs_1555533300

1 SubmittersRCV001256309

NM_000135.4(FANCA):c.4069G>C (p.Ala1357Pro)

SNV
Germline

Chr16:89739231

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397484536

rs_1456500627

1 SubmittersRCV001256308

NM_000135.4(FANCA):c.4010+2T>C

SNV
Germline

Chr16:89739476

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397484728

rs_2062067746

4 SubmittersRCV001256304 RCV003523083 RCV002250738

NM_000135.4(FANCA):c.4010+1G>A

SNV
Germline

Chr16:89739477

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397484732

rs_2062067810

2 SubmittersRCV001256302

NM_000135.4(FANCA):c.4009A>G (p.Ser1337Gly)

SNV
Germline

Chr16:89739479

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397484737

rs_1268944859

1 SubmittersRCV001256299

NM_000135.4(FANCA):c.3973G>C (p.Asp1325His)

SNV
Germline

Chr16:89739515

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397484810

rs_2062069547

1 SubmittersRCV001256629

NM_000135.4(FANCA):c.3934+1G>A

SNV
Germline

Chr16:89739993

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397484888

rs_2062087795

2 SubmittersRCV003635954 RCV001256627

NM_000135.4(FANCA):c.3829-1G>C

SNV
Germline

Chr16:89740100

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397485115

rs_2062090760

1 SubmittersRCV001256526

NM_000135.4(FANCA):c.3828+1G>T

SNV
Germline

Chr16:89740803

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397485125

rs_1432988639

4 SubmittersRCV005094188 RCV001256524

NM_000135.4(FANCA):c.3786C>G (p.Phe1262Leu)

SNV
Germline

Chr16:89740846

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397485212

rs_2062115605

1 SubmittersRCV001256523

NM_000135.4(FANCA):c.3766-2A>G

SNV
Germline

Chr16:89740868

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397485263

rs_1219402916

3 SubmittersRCV001256519 RCV003635950

NM_000135.4(FANCA):c.3765+1G>T

SNV
Germline

Chr16:89742799

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397485269

rs_2062169124

1 SubmittersRCV001256518

NM_000135.4(FANCA):c.3760G>T (p.Glu1254Ter)

SNV
Germline

Chr16:89742805

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397485281

rs_375700263

1 SubmittersRCV001256516

NM_000135.4(FANCA):c.3627-1G>A

SNV
Germline

Chr16:89742939

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397485556

rs_2062172440

3 SubmittersRCV001256408

NM_000135.4(FANCA):c.3611G>C (p.Arg1204Pro)

SNV
Germline

Chr16:89744974

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397485603

rs_770622823

1 SubmittersRCV001256406

NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter)

SNV
Germline

Chr16:89745017

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397485686

rs_2062210802

2 SubmittersRCV001256404 RCV003523087

NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter)

SNV
Germline

Chr16:89745030

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397485716

rs_1185165443

2 SubmittersRCV002568708 RCV001256297

NM_000135.4(FANCA):c.3513G>A (p.Leu1171=)

SNV
Germline

Chr16:89746584

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA497195371

rs_2038398296

1 SubmittersRCV001256295

NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu)

SNV
Germline

Chr16:89746606

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397485858

rs_2038399117

2 SubmittersRCV002570433 RCV001256294

NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)

SNV
Germline

Chr16:89746607

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397485861

rs_545772434

4 SubmittersRCV001879789 RCV001256293

NM_000135.4(FANCA):c.3386A>T (p.Asp1129Val)

SNV
Germline

Chr16:89746853

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397486086

rs_2038408351

1 SubmittersRCV001256286

NM_000135.4(FANCA):c.3350G>C (p.Arg1117Thr)

SNV
Germline

Chr16:89746889

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397486164

rs_2038409656

2 SubmittersRCV001256619 RCV005432634

NM_000135.4(FANCA):c.3348+5G>A

SNV
Germline

Chr16:89748654

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA624280485

rs_1343799019

1 SubmittersRCV001256617

NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly)

SNV
Germline

Chr16:89748672

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397486206

rs_2038474528

2 SubmittersRCV001256614 RCV004587093

NM_000135.4(FANCA):c.3329A>C (p.His1110Pro)

SNV
Germline

Chr16:89748678

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397486219

rs_752837228

2 SubmittersRCV001256613

NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter)

SNV
Germline

Chr16:89748721

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397486316

rs_775799529

2 SubmittersRCV001256611

NM_000135.4(FANCA):c.3240-2A>G

SNV
Germline

Chr16:89748769

Likely pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397486410

rs_2038478110

1 SubmittersRCV001256608

NM_000135.4(FANCA):c.3239+82T>G

SNV
Germline

Chr16:89749648

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA1139665034

rs_2038511531

1 SubmittersRCV001256515

NM_000135.4(FANCA):c.3239G>T (p.Arg1080Leu)

SNV
Germline

Chr16:89749730

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397486417

rs_1555538571

1 SubmittersRCV001256514

NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)

SNV
Germline

Chr16:89749805

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
FANCA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA397486565

rs_1429943036

5 SubmittersRCV001256511 RCV001879795 RCV003405458

NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly)

SNV
Germline

Chr16:89749806

Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Single Submitter

CA397486567

rs_753063086

2 SubmittersRCV001879794 RCV001256510

NM_000135.4(FANCA):c.3130C>T (p.Gln1044Ter)

SNV
Germline

Chr16:89749839

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397486638

rs_1172710952

1 SubmittersRCV001256508

NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter)

SNV
Germline

Chr16:89749878

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397486715

rs_1270910813

2 SubmittersRCV001256507 RCV002570437

NM_000135.4(FANCA):c.3067-1G>A

SNV
Germline

Chr16:89749903

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397486771

rs_2038522097

1 SubmittersRCV001256506

NM_000135.4(FANCA):c.3066+1G>A

SNV
Germline

Chr16:89752137

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA8251368

rs_587783028

2 SubmittersRCV001256505 RCV001377117

NM_000135.4(FANCA):c.2982-192A>G

SNV
Germline

Chr16:89752414

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA1139665040

rs_2038628210

1 SubmittersRCV001256396

NM_000135.4(FANCA):c.2866C>T (p.Gln956Ter)

SNV
Germline

Chr16:89758692

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397431547

rs_2038844292

1 SubmittersRCV001256392

NM_000135.4(FANCA):c.2854C>T (p.Gln952Ter)

SNV
Germline

Chr16:89758704

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397431606

rs_2038844790

1 SubmittersRCV001256391

NM_000135.4(FANCA):c.2806G>A (p.Glu936Lys)

SNV
Germline

Chr16:89761995

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397433665

rs_2038968872

1 SubmittersRCV001256276

NM_000135.4(FANCA):c.2794T>C (p.Trp932Arg)

SNV
Germline

Chr16:89762007

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397433831

rs_2038969261

1 SubmittersRCV001256275

NM_000135.4(FANCA):c.2778+1G>T

SNV
Germline

Chr16:89764889

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA286555302

rs_140180549

1 SubmittersRCV001256601

NM_000135.4(FANCA):c.2778+1G>C

SNV
Germline

Chr16:89764889

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397437784

rs_140180549

2 SubmittersRCV001256602 RCV001389973

NM_000135.4(FANCA):c.2723T>C (p.Leu908Pro)

SNV
Germline

Chr16:89764945

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397438152

rs_2039075542

1 SubmittersRCV001256598

NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter)

SNV
Germline

Chr16:89764960

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397438224

rs_1354272260

3 SubmittersRCV001879801 RCV001256597

NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter)

SNV
Germline

Chr16:89764990

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397438492

rs_2039077331

2 SubmittersRCV001256596 RCV002570438

NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)

SNV
Germline

Chr16:89765036

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397438857

rs_1017086086

4 SubmittersRCV001256501

NM_000135.4(FANCA):c.2602-1G>A

SNV
Germline

Chr16:89765067

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA8251622

rs_747823528

2 SubmittersRCV001256494 RCV001389974

NM_000135.4(FANCA):c.2602-2A>C

SNV
Germline

Chr16:89765068

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397438953

rs_1555545592

3 SubmittersRCV002570436 RCV001256493

NM_000135.4(FANCA):c.2527T>G (p.Tyr843Asp)

SNV
Germline

Chr16:89767215

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
FANCA-related disorder

No Assertion Criteria Provided

CA8251683

rs_374030577

2 SubmittersRCV001256387 RCV004727049

NM_000135.4(FANCA):c.2513C>G (p.Thr838Arg)

SNV
Germline

Chr16:89767229

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397440895

rs_1216922486

1 SubmittersRCV001256386

NM_000135.4(FANCA):c.2504+134A>G

SNV
Germline

Chr16:89769703

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA1139665008

rs_2039254077

1 SubmittersRCV001256381

NM_000135.4(FANCA):c.2504+2T>C

SNV
Germline

Chr16:89769835

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397442926

rs_2039260502

1 SubmittersRCV001256274

NM_000135.4(FANCA):c.2450T>C (p.Leu817Pro)

SNV
Germline

Chr16:89769891

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397443331

rs_1307805145

1 SubmittersRCV001256272

NM_000135.4(FANCA):c.2362G>C (p.Ala788Pro)

SNV
Germline

Chr16:89769979

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397444289

rs_1036897594

1 SubmittersRCV001256271

NM_000135.4(FANCA):c.2316+1G>T

SNV
Germline

Chr16:89770165

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397444895

rs_2039275333

1 SubmittersRCV001256266

NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp)

SNV
Germline

Chr16:89770192

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8251802

rs_751572448

4 SubmittersRCV001256263 RCV001879787

NM_000135.4(FANCA):c.2282T>A (p.Val761Glu)

SNV
Germline

Chr16:89770200

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397445150

rs_2039276663

1 SubmittersRCV001256262

NM_000135.4(FANCA):c.2224C>A (p.Gln742Lys)

SNV
Germline

Chr16:89770258

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397446793

rs_1239354393

1 SubmittersRCV001256592

NM_000135.4(FANCA):c.2223-3C>G

SNV
Germline

Chr16:89770262

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA1139665014

rs_2039278966

1 SubmittersRCV001256591

NM_000135.4(FANCA):c.2170A>C (p.Thr724Pro)

SNV
Germline

Chr16:89770616

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397447351

rs_2039290343

1 SubmittersRCV001256588

NM_000135.4(FANCA):c.2054G>C (p.Arg685Thr)

SNV
Germline

Chr16:89771775

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397448578

rs_1183781456

1 SubmittersRCV001256488

NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)

SNV
Germline

Chr16:89771808

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA286566599

rs_17232973

3 SubmittersRCV001256487 RCV003523088

NM_000135.4(FANCA):c.2015-1G>T

SNV
Germline

Chr16:89771815

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397448769

rs_1555548632

2 SubmittersRCV001256483 RCV001879792

NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter)

SNV
Germline

Chr16:89773280

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397449520

rs_2039386741

3 SubmittersRCV001256482 RCV002570435

NM_000135.4(FANCA):c.1792G>A (p.Asp598Asn)

SNV
Germline

Chr16:89778835

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397454528

rs_2039605345

1 SubmittersRCV001256368

NM_000135.4(FANCA):c.1627-1G>T

SNV
Germline

Chr16:89779958

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397456643

rs_2039644862

1 SubmittersRCV001256581

NM_000135.4(FANCA):c.1567-20A>G

SNV
Germline

Chr16:89782938

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8252253

rs_775154397

3 SubmittersRCV001256576 RCV003399023

NM_000135.4(FANCA):c.1566+3A>C

SNV
Germline

Chr16:89783004

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA1139665027

rs_2039773398

1 SubmittersRCV001256575

NM_000135.4(FANCA):c.1535C>G (p.Ser512Ter)

SNV
Germline

Chr16:89783038

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397458109

rs_2039774778

2 SubmittersRCV001256573

NM_000135.4(FANCA):c.1471-1G>T

SNV
Germline

Chr16:89783103

Pathogenic

Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Single Submitter

CA397458327

rs_2039777078

2 SubmittersRCV003462829 RCV001256474

NM_000135.4(FANCA):c.1470+1G>T

SNV
Germline

Chr16:89784853

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397459565

rs_1555556175

1 SubmittersRCV001256468

NM_000135.4(FANCA):c.1470G>A (p.Gln490=)

SNV
Germline

Chr16:89784854

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA497191166

rs_2039844218

1 SubmittersRCV001256467

NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter)

SNV
Germline

Chr16:89784860

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397459605

rs_2039844441

5 SubmittersRCV001256466 RCV003485697

NM_000135.4(FANCA):c.1220T>G (p.Leu407Arg)

SNV
Germline

Chr16:89791932

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397465911

rs_2040089994

1 SubmittersRCV001256244

NM_000135.4(FANCA):c.1085T>C (p.Leu362Pro)

SNV
Germline

Chr16:89792067

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397466421

rs_2040094645

1 SubmittersRCV001256238

NM_000135.4(FANCA):c.1073T>G (p.Leu358Arg)

SNV
Germline

Chr16:89792481

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA286594069

rs_1045404649

1 SubmittersRCV001256569

NM_000135.4(FANCA):c.894-1G>A

SNV
Germline

Chr16:89796019

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397470479

rs_2040234338

1 SubmittersRCV001256460

NM_000135.4(FANCA):c.893+920C>A

SNV
Germline

Chr16:89798246

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA1139664972

rs_1174586234

1 SubmittersRCV001256457

NM_000135.4(FANCA):c.893+1G>T

SNV
Germline

Chr16:89799165

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397472727

rs_2040352832

2 SubmittersRCV001256456 RCV003635949

NM_000135.4(FANCA):c.827-1G>T

SNV
Germline

Chr16:89799233

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397473215

rs_753728435

5 SubmittersRCV001256351 RCV003523086

NM_000135.4(FANCA):c.793-2A>C

SNV
Germline

Chr16:89799640

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397473720

rs_2040372065

1 SubmittersRCV001256340

NM_000135.4(FANCA):c.792G>A (p.Gln264=)

SNV
Germline

Chr16:89803259

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA497195217

rs_2040520107

1 SubmittersRCV001256230

NM_000135.4(FANCA):c.710-2A>G

SNV
Germline

Chr16:89803343

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397476550

rs_2040523467

2 SubmittersRCV001256224

NM_000135.4(FANCA):c.710-10G>A

SNV
Germline

Chr16:89803351

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA1139664978

rs_2040524006

3 SubmittersRCV001256222

NM_000135.4(FANCA):c.709+1G>A

SNV
Germline

Chr16:89805279

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8252850

rs_753211631

3 SubmittersRCV001256556 RCV001879798

NM_000135.4(FANCA):c.683C>G (p.Ala228Gly)

SNV
Germline

Chr16:89805306

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397477803

rs_1354884515

1 SubmittersRCV001256555

NM_000135.4(FANCA):c.629T>G (p.Leu210Arg)

SNV
Germline

Chr16:89805360

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397478113

rs_2040601073

1 SubmittersRCV001256554

NM_000135.4(FANCA):c.597-2A>G

SNV
Germline

Chr16:89805394

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397478273

rs_2040602804

1 SubmittersRCV001256545

NM_000135.4(FANCA):c.505G>T (p.Glu169Ter)

SNV
Germline

Chr16:89810724

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397480675

rs_372691338

1 SubmittersRCV001256445

NM_000135.4(FANCA):c.448G>T (p.Glu150Ter)

SNV
Germline

Chr16:89810781

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397480799

rs_947111024

1 SubmittersRCV001256442

NM_000135.4(FANCA):c.427-2A>G

SNV
Germline

Chr16:89810804

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397480844

rs_765684774

2 SubmittersRCV001879791 RCV001256440

NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)

SNV
Germline

Chr16:89810931

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397480856

rs_2040853392

4 SubmittersRCV001256339 RCV003635948

NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)

SNV
Germline

Chr16:89814528

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397482431

rs_1183559927

3 SubmittersRCV001256219 RCV004769973

NM_000135.4(FANCA):c.190-1G>C

SNV
Germline

Chr16:89814614

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA8253121

rs_765277254

2 SubmittersRCV001256212

NM_000135.4(FANCA):c.189+2T>A

SNV
Germline

Chr16:89815875

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397483181

rs_2041094594

2 SubmittersRCV001879797 RCV001256542

NM_000135.4(FANCA):c.128T>A (p.Leu43Ter)

SNV
Germline

Chr16:89815938

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397483468

rs_1158456786

2 SubmittersRCV001256539 RCV003523089

NM_000135.4(FANCA):c.66G>A (p.Trp22Ter)

SNV
Germline

Chr16:89816550

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397484425

rs_2041138210

1 SubmittersRCV001256534

NM_000135.4(FANCA):c.14G>A (p.Trp5Ter)

SNV
Germline

Chr16:89816602

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397484625

rs_2041143697

1 SubmittersRCV001256437

NM_000136.3(FANCC):c.1084G>T (p.Gly362Ter)

SNV
Unknown

Chr9:95114699

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374108056

rs_2072245226

1 SubmittersRCV001264297

NM_000136.3(FANCC):c.1029C>A (p.Tyr343Ter)

SNV
Unknown

Chr9:95117358

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374108176

rs_2072504418

1 SubmittersRCV001264298

NM_000136.3(FANCC):c.793G>T (p.Glu265Ter)

SNV
Unknown

Chr9:95135396

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374109274

rs_1827526425

1 SubmittersRCV001264299

NM_000136.3(FANCC):c.661G>T (p.Glu221Ter)

SNV
Unknown

Chr9:95149948

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374109561

rs_1830059125

1 SubmittersRCV001264300

NM_000136.3(FANCC):c.464T>A (p.Leu155Ter)

SNV
Unknown

Chr9:95171136

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374338663

rs_1825652774

1 SubmittersRCV001264301

NM_000136.3(FANCC):c.353T>A (p.Leu118Ter)

SNV
Unknown

Chr9:95172140

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374338907

rs_1825725461

1 SubmittersRCV001263719

NM_000136.3(FANCC):c.323C>A (p.Ser108Ter)

SNV
Unknown

Chr9:95240671

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374339234

rs_1830581816

1 SubmittersRCV001263720

NM_000136.3(FANCC):c.275G>A (p.Trp92Ter)

SNV
Unknown

Chr9:95240719

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

CA374339436

rs_1830584796

2 SubmittersRCV001263721

NM_000135.4(FANCA):c.3753C>A (p.Cys1251Ter)

SNV
Unknown

Chr16:89742812

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397485298

rs_752126515

1 SubmittersRCV001263705

NM_000135.4(FANCA):c.3640G>T (p.Glu1214Ter)

SNV
Unknown

Chr16:89742925

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397485529

rs_2062172011

1 SubmittersRCV001263706

NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)

SNV
Germline

Chr16:89746597

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397485840

rs_2038398856

3 SubmittersRCV001263707 RCV003635956

NM_000135.4(FANCA):c.3133G>T (p.Glu1045Ter)

SNV
Germline

Chr16:89749836

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397486630

rs_2038519770

2 SubmittersRCV001263708

NM_000135.4(FANCA):c.3017T>A (p.Leu1006Ter)

SNV
Unknown

Chr16:89752187

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397426177

rs_2038618125

1 SubmittersRCV001263709

NM_000135.4(FANCA):c.2848G>T (p.Glu950Ter)

SNV
Unknown

Chr16:89761953

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397433151

rs_2038967261

1 SubmittersRCV001263710

NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)

SNV
Germline

Chr16:89769842

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397442973

rs_2039260856

3 SubmittersRCV001263791

NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter)

SNV
Germline

Chr16:89769852

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

CA397443058

rs_772477788

2 SubmittersRCV001263792 RCV005614507

NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter)

SNV
Unknown

Chr16:89769869

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397443177

rs_2039261844

1 SubmittersRCV001263793

NM_000135.4(FANCA):c.2234G>A (p.Trp745Ter)

SNV
Unknown

Chr16:89770248

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397446739

rs_1338018512

1 SubmittersRCV001263794

NM_000135.4(FANCA):c.1951G>T (p.Gly651Ter)

SNV
Unknown

Chr16:89773334

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397450056

rs_140785340

1 SubmittersRCV001263795

NM_000135.4(FANCA):c.1822A>T (p.Lys608Ter)

SNV
Unknown

Chr16:89778805

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397454317

rs_938278864

1 SubmittersRCV001263796

NM_000135.4(FANCA):c.1585G>T (p.Gly529Ter)

SNV
Unknown

Chr16:89782900

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397457998

rs_2039768709

1 SubmittersRCV001263797

NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)

SNV
Germline

Chr16:89784856

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397459584

rs_1266348463

3 SubmittersRCV001263798 RCV001880068

NM_000135.4(FANCA):c.1450G>T (p.Glu484Ter)

SNV
Unknown

Chr16:89784874

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397459701

rs_2039845162

1 SubmittersRCV001264168

NM_000135.4(FANCA):c.1162A>T (p.Arg388Ter)

SNV
Unknown

Chr16:89791990

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397466173

rs_2040091746

1 SubmittersRCV001264169

NM_000135.4(FANCA):c.1070C>A (p.Ser357Ter)

SNV
Unknown

Chr16:89792484

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397466623

rs_773687142

1 SubmittersRCV001264170

NM_000135.4(FANCA):c.658C>T (p.Gln220Ter)

SNV
Unknown

Chr16:89805331

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397477944

rs_775697743

1 SubmittersRCV001264171

NM_000135.4(FANCA):c.520C>T (p.Gln174Ter)

SNV
Unknown

Chr16:89810709

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397480639

rs_1454055874

1 SubmittersRCV001264172

NM_000135.4(FANCA):c.467T>A (p.Leu156Ter)

SNV
Unknown

Chr16:89810762

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397480757

rs_1419169954

1 SubmittersRCV001264173

NM_000135.4(FANCA):c.364G>T (p.Gly122Ter)

SNV
Unknown

Chr16:89810991

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397480968

rs_2040857662

1 SubmittersRCV001264174

NM_000135.4(FANCA):c.308C>G (p.Ser103Ter)

SNV
Unknown

Chr16:89811047

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397481072

rs_147176389

2 SubmittersRCV001264295

NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)

SNV
Germline

Chr16:89815984

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397483807

rs_2041102320

4 SubmittersRCV001264296 RCV001880078

NM_000135.4(FANCA):c.2394C>T (p.Leu798=)

SNV
Germline

Chr16:89769947

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251736

rs_765883419

5 SubmittersRCV001277943 RCV001431916 RCV003405481 RCV004978222

NM_032043.3(BRIP1):c.1896T>C (p.Thr632=)

SNV
Germline

Chr17:61780300

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501150320

rs_2077595308

4 SubmittersRCV001283952 RCV003294183 RCV003770435 RCV004789512

NM_018062.4(FANCL):c.904-4G>T

SNV
Germline

Chr2:58161642

Conflicting classifications of pathogenicity

Fanconi anemia complementation group L
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA891862628

rs_757211531

2 SubmittersRCV001292702 RCV003523091

NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser)

SNV
Germline

Chr16:3583210

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7865441

rs_199592185

4 SubmittersRCV001292854 RCV001417838

NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)

SNV
Germline

Chr16:89738965

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8250696

rs_199652831

6 SubmittersRCV001292617 RCV001859237 RCV004998794

NM_000135.4(FANCA):c.2529C>G (p.Tyr843Ter)

SNV
Germline

Chr16:89767213

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397440789

rs_1247378731

1 SubmittersRCV001292921

NM_022725.4(FANCF):c.338A>G (p.Gln113Arg)

SNV
Germline

Chr11:22625473

Conflicting classifications of pathogenicity

Fanconi anemia complementation group F
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA5924367

rs_757993614

4 SubmittersRCV001294129 RCV001863179

NM_032444.4(SLX4):c.4585C>T (p.Gln1529Ter)

SNV
Unknown

Chr16:3589053

Likely pathogenic

Fanconi anemia complementation group P

Criteria Provided
Single Submitter

CA394516836

rs_1237224833

1 SubmittersRCV001293954

NM_001018115.3(FANCD2):c.3751C>G (p.Pro1251Ala)

SNV
Germline

Chr3:10090359

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2250497

rs_568515612

2 SubmittersRCV001302070 RCV002539491

NM_001018115.3(FANCD2):c.4214A>T (p.Gln1405Leu)

SNV
Germline

Chr3:10098748

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA2250656

rs_746871581

4 SubmittersRCV001297712 RCV001760341 RCV005038037

NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)

SNV
Germline

Chr16:13935323

Conflicting classifications of pathogenicity

Ovarian cancer
XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome

Criteria Provided
Conflicting Classifications

CA7910457

rs_780488548

3 SubmittersRCV003153976 RCV005014361 RCV001300359

NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)

SNV
Germline

Chr16:13935734

Conflicting classifications of pathogenicity

Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Xeroderma pigmentosum
Condition: not provided
not specified
Xeroderma pigmentosum, group F
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7910540

rs_138532294

6 SubmittersRCV001294384 RCV002258183 RCV005051884 RCV001819982 RCV005601734 RCV005550237

NM_000135.4(FANCA):c.2982-8C>G

SNV
Germline

Chr16:89752230

Conflicting classifications of pathogenicity

Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

CA8251388

rs_781331325

3 SubmittersRCV001307466 RCV001820000

NM_000135.4(FANCA):c.2109G>C (p.Gln703His)

SNV
Germline

Chr16:89771720

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251908

rs_371458363

3 SubmittersRCV001309099 RCV002476427

NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)

SNV
Germline

Chr16:89773334

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251967

rs_140785340

6 SubmittersRCV001300117 RCV001819989 RCV002476391 RCV004978266 RCV004998801

NM_000135.4(FANCA):c.1931A>G (p.Asn644Ser)

SNV
Germline

Chr16:89773354

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397450263

rs_924548467

4 SubmittersRCV001306865 RCV005014382 RCV005340765

NM_000135.4(FANCA):c.1567-9T>A

SNV
Germline

Chr16:89782927

Conflicting classifications of pathogenicity

Fanconi anemia
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8252245

rs_747184077

2 SubmittersRCV001304314 RCV003393965

NM_000135.4(FANCA):c.19C>T (p.Pro7Ser)

SNV
Germline

Chr16:89816597

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8253278

rs_780667753

3 SubmittersRCV001304743 RCV002504460

NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu)

SNV
Germline

ChrX:14864711

Conflicting classifications of pathogenicity

Fanconi anemia
FANCB-related disorder
Inborn genetic diseases
VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia complementation group B

Criteria Provided
Conflicting Classifications

CA327063396

rs_374217132

4 SubmittersRCV001301818 RCV003898292 RCV004978271 RCV002486161

NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter)

SNV
Germline

Chr14:45176652

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA389603460

rs_751795256

3 SubmittersRCV001311010 RCV001389938

NM_032444.4(SLX4):c.3916C>T (p.Gln1306Ter)

SNV
Germline

Chr16:3589722

Pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA394518868

rs_2040557100

2 SubmittersRCV001310312 RCV002543548

NM_001018115.3(FANCD2):c.2351C>T (p.Ser784Phe)

SNV
Germline

Chr3:10065945

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA351736110

rs_1398046806

3 SubmittersRCV001326740 RCV002504513 RCV003153994

NM_001018115.3(FANCD2):c.3224+8T>A

SNV
Germline

Chr3:10081472

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA541213425

rs_1412513898

2 SubmittersRCV001320347 RCV002486272

NM_004629.2(FANCG):c.1292T>G (p.Met431Arg)

SNV
Germline

Chr9:35075606

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G
Ovarian cancer
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5039779

rs_759285011

4 SubmittersRCV001312904 RCV001830266 RCV003153985 RCV004619618

NM_000136.3(FANCC):c.1355A>G (p.His452Arg)

SNV
Germline

Chr9:95107244

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA374106246

rs_1224625808

3 SubmittersRCV001316820 RCV002384400 RCV002486246

NM_020937.4(FANCM):c.2289A>G (p.Gln763=)

SNV
Germline

Chr14:45173183

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA486140378

rs_1431945795

3 SubmittersRCV001325306 RCV003478783 RCV005340788

NM_020937.4(FANCM):c.3232C>T (p.Pro1078Ser)

SNV
Germline

Chr14:45175986

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7169482

rs_189723011

4 SubmittersRCV001318978 RCV001760393 RCV004034951

NM_032444.4(SLX4):c.2864A>G (p.His955Arg)

SNV
Germline

Chr16:3590774

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7866049

rs_143694260

3 SubmittersRCV001316450 RCV002486242 RCV005278816

NM_000135.4(FANCA):c.4088A>G (p.Lys1363Arg)

SNV
Germline

Chr16:89739212

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8250791

rs_773947543

2 SubmittersRCV001318525 RCV005572543

NM_000135.4(FANCA):c.2779-9C>G

SNV
Germline

Chr16:89762031

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251505

rs_764825402

3 SubmittersRCV001314540 RCV005014394

NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly)

SNV
Germline

Chr16:89769958

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251739

rs_767455904

3 SubmittersRCV001325540 RCV005014425

NM_000135.4(FANCA):c.837C>A (p.Asp279Glu)

SNV
Germline

Chr16:89799222

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397473132

rs_752311383

2 SubmittersRCV001321097 RCV005562686

NM_000135.4(FANCA):c.166G>A (p.Asp56Asn)

SNV
Germline

Chr16:89815900

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397483282

rs_1360481164

3 SubmittersRCV001323193 RCV005340782

NM_000135.4(FANCA):c.68C>T (p.Ala23Val)

SNV
Germline

Chr16:89816548

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8253261

rs_776297241

4 SubmittersRCV001327579 RCV002504516 RCV004035243

NM_032043.3(BRIP1):c.2948T>C (p.Ile983Thr)

SNV
Germline

Chr17:61684098

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400480683

rs_587781417

3 SubmittersRCV001322142 RCV001525964

NM_032043.3(BRIP1):c.325A>G (p.Asn109Asp)

SNV
Germline

Chr17:61857112

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400485367

rs_2078907245

3 SubmittersRCV001313761 RCV003478771 RCV004601448

NM_022725.4(FANCF):c.502G>T (p.Glu168Ter)

SNV
Germline

Chr11:22625309

Likely pathogenic

Fanconi anemia complementation group F

Criteria Provided
Single Submitter

rs_754014970

1 SubmittersRCV005046692

NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter)

SNV
Germline

Chr15:89299900

Pathogenic/Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA393736956

rs_1359408831

2 SubmittersRCV001332840

NM_032444.4(SLX4):c.1129C>T (p.Gln377Ter)

SNV
Germline

Chr16:3601013

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394531382

rs_1171341642

1 SubmittersRCV003637577

NM_000135.4(FANCA):c.4168-4C>T

SNV
Germline

Chr16:89738978

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2241889468

rs_775180524

2 SubmittersRCV001331008 RCV001458991

NM_000135.4(FANCA):c.189+1G>T

SNV
Germline

Chr16:89815876

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397483187

rs_891323617

2 SubmittersRCV001330798 RCV001376795

NM_032444.4(SLX4):c.4283G>A (p.Trp1428Ter)

SNV
Germline

Chr16:3589355

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Multiple Submitters
No Conflicts

CA276958369

rs_1028935047

2 SubmittersRCV002588415 RCV005011023

NM_021922.3(FANCE):c.330G>A (p.Pro110=)

SNV
Germline

Chr6:35455828

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E

Criteria Provided
Conflicting Classifications

CA3771390

rs_757051494

2 SubmittersRCV001337606

NM_020937.4(FANCM):c.2177C>T (p.Thr726Ile)

SNV
Germline

Chr14:45173071

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA389596615

rs_1171394901

2 SubmittersRCV001351944 RCV005562712

NM_020937.4(FANCM):c.2244A>G (p.Gln748=)

SNV
Germline

Chr14:45173138

Conflicting classifications of pathogenicity

Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

CA486140314

rs_751605791

2 SubmittersRCV001341324 RCV001820040

NM_001113378.2(FANCI):c.2133T>C (p.Asn711=)

SNV
Germline

Chr15:89292828

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

CA492289071

rs_2054118261

2 SubmittersRCV001342887 RCV002486390

NM_032444.4(SLX4):c.3668C>T (p.Pro1223Leu)

SNV
Germline

Chr16:3589970

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7865874

rs_376133540

3 SubmittersRCV001343470 RCV002499685 RCV002546989

NM_032444.4(SLX4):c.3013G>A (p.Glu1005Lys)

SNV
Germline

Chr16:3590625

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7866017

rs_746178364

2 SubmittersRCV001350628 RCV003294377

NM_000135.4(FANCA):c.2309G>A (p.Arg770His)

SNV
Germline

Chr16:89770173

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251798

rs_145552439

4 SubmittersRCV001338065 RCV001820035 RCV002499667

NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys)

SNV
Germline

Chr16:89791525

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252431

rs_780135578

3 SubmittersRCV001345449 RCV002486403

NM_058216.3(RAD51C):c.46A>G (p.Ser16Gly)

SNV
Germline

Chr17:58692689

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8677129

rs_762060755

4 SubmittersRCV001348951 RCV001773696 RCV002341730

NM_058216.3(RAD51C):c.222A>G (p.Arg74=)

SNV
Germline

Chr17:58695007

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA501074583

rs_2047945471

4 SubmittersRCV001340640 RCV001524269 RCV005245824

NM_032043.3(BRIP1):c.3302C>T (p.Pro1101Leu)

SNV
Germline

Chr17:61683744

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400479023

rs_2061312470

2 SubmittersRCV001350068 RCV005306425

NM_032043.3(BRIP1):c.3293C>A (p.Ala1098Asp)

SNV
Germline

Chr17:61683753

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400479041

rs_1361161166

2 SubmittersRCV001342709 RCV004036004

NM_032043.3(BRIP1):c.3196T>C (p.Ser1066Pro)

SNV
Germline

Chr17:61683850

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA400479359

rs_1199327421

3 SubmittersRCV001350707 RCV003294378 RCV004727178

NM_032043.3(BRIP1):c.919-3T>C

SNV
Germline

Chr17:61801477

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2269179656

rs_2077994124

3 SubmittersRCV001343393 RCV002447412 RCV004793444

NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro)

SNV
Germline

ChrX:14844945

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group B

Criteria Provided
Conflicting Classifications

CA327057889

rs_144764663

3 SubmittersRCV001349991 RCV004692613 RCV005005199

NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln)

SNV
Germline

ChrX:14853139

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group B

Criteria Provided
Conflicting Classifications

CA10353085

rs_753030842

3 SubmittersRCV001352034 RCV004809572 RCV005005202

NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter)

SNV
Germline

Chr9:95111520

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA374107340

rs_2134548133

3 SubmittersRCV001356872 RCV002377504 RCV003635959

NM_021922.3(FANCE):c.2T>C (p.Met1Thr)

SNV
Germline

Chr6:35452547

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA363769608

rs_1462766132

3 SubmittersRCV001370136 RCV003120585

NM_000136.3(FANCC):c.1330-10T>C

SNV
Germline

Chr9:95107279

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA589580895

rs_1386511892

3 SubmittersRCV001361656 RCV005040216

NM_000136.3(FANCC):c.-78-1G>C

SNV
Germline

Chr9:95249370

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499220022

rs_2136103070

3 SubmittersRCV001373069 RCV005001216

NM_001113378.2(FANCI):c.3411A>G (p.Gln1137=)

SNV
Germline

Chr15:89306068

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

CA274525980

rs_781569040

2 SubmittersRCV001360770 RCV005005208

NM_032444.4(SLX4):c.4394G>A (p.Arg1465His)

SNV
Germline

Chr16:3589244

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
SLX4-related disorder
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7865657

rs_757128699

4 SubmittersRCV001369987 RCV003298605 RCV004746352 RCV005014503

NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu)

SNV
Germline

Chr16:89739167

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8250776

rs_760814763

3 SubmittersRCV001373469 RCV002499768 RCV004980408

NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)

SNV
Germline

Chr16:89744975

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251083

rs_759303096

4 SubmittersRCV001361375 RCV002504592

NM_000135.4(FANCA):c.2622A>G (p.Arg874=)

SNV
Germline

Chr16:89765046

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA497379724

rs_1441752228

2 SubmittersRCV001365131

NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala)

SNV
Germline

Chr16:89771704

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251901

rs_746373917

5 SubmittersRCV001369132 RCV002499756 RCV003405615 RCV005562728

NM_007294.4(BRCA1):c.4001G>A (p.Gly1334Asp)

SNV
Germline

Chr17:43091530

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
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
Conflicting Classifications

CA10593960

rs_2053486938

3 SubmittersRCV001361614 RCV003158843 RCV002493845

NM_058216.3(RAD51C):c.26A>T (p.Glu9Val)

SNV
Germline

Chr17:58692669

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA400336345

rs_2143673258

2 SubmittersRCV001373157 RCV004699346

NM_058216.3(RAD51C):c.217C>T (p.Pro73Ser)

SNV
Germline

Chr17:58695002

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400340122

rs_1555593541

4 SubmittersRCV001362756 RCV001806148 RCV003469599

NM_032043.3(BRIP1):c.1237G>C (p.Val413Leu)

SNV
Germline

Chr17:61799203

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400483627

rs_2145305445

2 SubmittersRCV004951625 RCV001367939

NM_001018113.3(FANCB):c.1267T>C (p.Tyr423His)

SNV
Germline

ChrX:14853098

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10353080

rs_776805534

2 SubmittersRCV001363285 RCV003438752

NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)

SNV
Germline

Chr16:89791455

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397463949

rs_2040074214

4 SubmittersRCV001376747 RCV001726536

NM_018062.4(FANCL):c.472-1G>C

SNV
Germline

Chr2:58198663

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group L

Criteria Provided
Multiple Submitters
No Conflicts

CA1670599

rs_768814501

5 SubmittersRCV001377977 RCV001838514 RCV003462954

NM_001018115.3(FANCD2):c.2494+2T>C

SNV
Germline

Chr3:10067319

Likely pathogenic

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA2250094

rs_779552164

4 SubmittersRCV002221627 RCV001378519

NM_021922.3(FANCE):c.1113+1G>A

SNV
Germline

Chr6:35458441

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363775531

rs_2150895088

1 SubmittersRCV001377491

NM_004629.2(FANCG):c.1434-2A>C

SNV
Germline

Chr9:35075327

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA373306192

rs_1829062071

2 SubmittersRCV001379948 RCV003469643

NM_000136.3(FANCC):c.996+1G>C

SNV
Germline

Chr9:95125085

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374108717

rs_370510954

1 SubmittersRCV001378545

NM_000136.3(FANCC):c.843+1G>T

SNV
Germline

Chr9:95135345

Pathogenic/Likely pathogenic

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374109168

rs_587779909

2 SubmittersRCV001378493 RCV002447502

NM_001113378.2(FANCI):c.882+2T>A

SNV
Germline

Chr15:89268527

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393740369

rs_2053066295

1 SubmittersRCV001377100

NM_005236.3(ERCC4):c.1102+1G>T

SNV
Germline

Chr16:13932286

Likely pathogenic

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

CA394806012

rs_1314323456

2 SubmittersRCV001377820 RCV003226467

NM_032444.4(SLX4):c.4739+2T>C

SNV
Germline

Chr16:3584767

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA7865536

rs_774356384

1 SubmittersRCV001379156

NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile)

SNV
Germline

Chr16:89746847

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA397486074

rs_2143109078

3 SubmittersRCV001379113 RCV003442878 RCV005014519

NM_000135.4(FANCA):c.3067-2A>G

SNV
Germline

Chr16:89749904

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397486774

rs_2143140176

2 SubmittersRCV001377023 RCV005014511

NM_000135.4(FANCA):c.2779-1G>T

SNV
Germline

Chr16:89762023

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397434048

rs_2143261385

1 SubmittersRCV001376768

NM_000135.4(FANCA):c.2015-2A>C

SNV
Germline

Chr16:89771816

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397448779

rs_2143351760

1 SubmittersRCV001379771

NM_000135.4(FANCA):c.1627-2A>G

SNV
Germline

Chr16:89779959

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397456656

rs_2143433058

1 SubmittersRCV001377504

NM_000135.4(FANCA):c.1308G>C (p.Gln436His)

SNV
Germline

Chr16:89791454

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397463942

rs_1316078638

1 SubmittersRCV001378190

NM_000135.4(FANCA):c.596+1G>C

SNV
Germline

Chr16:89808293

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397479105

rs_2143656696

2 SubmittersRCV001379921 RCV005014521

NM_000135.4(FANCA):c.426+1G>A

SNV
Germline

Chr16:89810928

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397480851

rs_1343463467

3 SubmittersRCV001379431 RCV001780295

NM_032043.3(BRIP1):c.628-2A>T

SNV
Germline

Chr17:61808759

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400485252

rs_995056553

1 SubmittersRCV001376837

NM_032043.3(BRIP1):c.508-2A>C

SNV
Germline

Chr17:61847222

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400483490

rs_876659707

2 SubmittersRCV001377433

NM_032043.3(BRIP1):c.380-1G>C

SNV
Germline

Chr17:61849257

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400484621

rs_2145767071

1 SubmittersRCV001378052

NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)

SNV
Germline

Chr2:58229828

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group L

Criteria Provided
Multiple Submitters
No Conflicts

CA347034774

rs_1490932431

3 SubmittersRCV001390762 RCV004570975

NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter)

SNV
Germline

Chr3:10074659

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA2250199

rs_762724830

2 SubmittersRCV001389630 RCV002499814

NM_001018115.3(FANCD2):c.3888+2T>G

SNV
Germline

Chr3:10093325

Pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351756384

rs_1419879344

3 SubmittersRCV001383373 RCV003469692

NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter)

SNV
Germline

Chr3:10094322

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA2250568

rs_148471911

2 SubmittersRCV001386981 RCV004570965

NM_001018115.3(FANCD2):c.4140T>A (p.Cys1380Ter)

SNV
Germline

Chr3:10096427

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351757915

rs_954149471

1 SubmittersRCV001384826

NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)

SNV
Germline

Chr6:35455763

Pathogenic/Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Multiple Submitters
No Conflicts

CA3771368

rs_752690798

3 SubmittersRCV001387796

NM_004629.2(FANCG):c.1216C>T (p.Gln406Ter)

SNV
Germline

Chr9:35075682

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373308983

rs_748730134

1 SubmittersRCV001389380

NM_004629.2(FANCG):c.1144-1G>T

SNV
Germline

Chr9:35075755

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA5039812

rs_755363896

4 SubmittersRCV001385294 RCV001826166

NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter)

SNV
Germline

Chr9:35076475

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373310728

rs_2131055360

1 SubmittersRCV001388483

NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)

SNV
Germline

Chr9:35076861

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA5039939

rs_149721361

4 SubmittersRCV001384029 RCV003147631

NM_004629.2(FANCG):c.365G>A (p.Trp122Ter)

SNV
Germline

Chr9:35078286

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373314545

rs_2131058553

1 SubmittersRCV001382663

NM_000136.3(FANCC):c.1181G>A (p.Trp394Ter)

SNV
Germline

Chr9:95111611

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374107532

rs_2134551203

1 SubmittersRCV001389515

NM_020937.4(FANCM):c.1492C>T (p.Gln498Ter)

SNV
Germline

Chr14:45159191

Pathogenic/Likely pathogenic

Fanconi anemia
Spermatogenic failure 28
Premature ovarian failure 15

Criteria Provided
Multiple Submitters
No Conflicts

CA389592565

rs_2139186499

2 SubmittersRCV001385342 RCV005395005

NM_020937.4(FANCM):c.2255C>G (p.Ser752Ter)

SNV
Germline

Chr14:45173149

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389596787

rs_1888447684

1 SubmittersRCV001384745

NM_020937.4(FANCM):c.3523C>T (p.Gln1175Ter)

SNV
Germline

Chr14:45176277

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389601900

rs_2139249281

1 SubmittersRCV001381289

NM_020937.4(FANCM):c.4153G>T (p.Glu1385Ter)

SNV
Germline

Chr14:45176907

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7169632

rs_776133776

2 SubmittersRCV001385667 RCV004728702

NM_020937.4(FANCM):c.4270C>T (p.Arg1424Ter)

SNV
Germline

Chr14:45181477

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7169672

rs_751954386

3 SubmittersRCV001380939 RCV001564781

NM_020937.4(FANCM):c.5446A>T (p.Lys1816Ter)

SNV
Germline

Chr14:45196277

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA389585866

rs_1594481199

2 SubmittersRCV001387500 RCV002272467

NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)

SNV
Germline

Chr16:13920187

Pathogenic

Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Single Submitter

CA394815859

rs_774510191

1 SubmittersRCV001389442

NM_024675.4(PALB2):c.3351-1G>A

SNV
Germline

Chr16:23603670

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395138431

rs_1597062406

2 SubmittersRCV001385043 RCV005014535

NM_032444.4(SLX4):c.4798C>T (p.Gln1600Ter)

SNV
Germline

Chr16:3583452

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394515383

rs_143026968

1 SubmittersRCV001385184

NM_000135.4(FANCA):c.4011-1G>C

SNV
Germline

Chr16:89739290

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397484723

rs_761988162

1 SubmittersRCV001380733

NM_000135.4(FANCA):c.3239+1G>A

SNV
Germline

Chr16:89749729

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397486416

rs_2143137762

1 SubmittersRCV001389759

NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)

SNV
Germline

Chr16:89749780

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397486520

rs_776391208

4 SubmittersRCV001389972 RCV003469766 RCV004998868

NM_000135.4(FANCA):c.3169C>T (p.Gln1057Ter)

SNV
Germline

Chr16:89749800

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397486556

rs_373545111

1 SubmittersRCV001388012

NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter)

SNV
Germline

Chr16:89765012

Pathogenic

Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397438704

rs_1487360770

2 SubmittersRCV001382301

NM_000135.4(FANCA):c.2299C>T (p.Gln767Ter)

SNV
Germline

Chr16:89770183

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397445025

rs_947786901

1 SubmittersRCV001383871

NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter)

SNV
Germline

Chr16:89792008

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA8252497

rs_769718381

2 SubmittersRCV001383443 RCV003462991

NM_000135.4(FANCA):c.792+1G>A

SNV
Germline

Chr16:89803258

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397475816

rs_2143615250

1 SubmittersRCV001388440

NM_000135.4(FANCA):c.731T>A (p.Leu244Ter)

SNV
Germline

Chr16:89803320

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397476360

rs_868620166

1 SubmittersRCV001381966

NM_058216.3(RAD51C):c.401T>G (p.Leu134Ter)

SNV
Germline

Chr17:58695186

Pathogenic

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400342118

rs_1233795152

2 SubmittersRCV001385802 RCV004037676

NM_058216.3(RAD51C):c.905-1G>A

SNV
Germline

Chr17:58724039

Pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA400361269

rs_2143961181

1 SubmittersRCV001388496

NM_058216.3(RAD51C):c.961C>T (p.Gln321Ter)

SNV
Germline

Chr17:58724096

Pathogenic

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400361597

rs_2143963184

2 SubmittersRCV001381906 RCV004037654

NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter)

SNV
Germline

Chr17:61685908

Pathogenic/Likely pathogenic

Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400481401

rs_863224802

4 SubmittersRCV002290705 RCV001389332 RCV003169951

NM_032043.3(BRIP1):c.2716G>T (p.Glu906Ter)

SNV
Germline

Chr17:61686025

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400481674

rs_759080195

1 SubmittersRCV001389883

NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter)

SNV
Germline

Chr17:61744578

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483361

rs_1057517643

3 SubmittersRCV001386561 RCV002420862 RCV003336402

NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter)

SNV
Germline

Chr17:61780925

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400480414

rs_2077609103

1 SubmittersRCV001386910

NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter)

SNV
Germline

Chr17:61780935

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400480436

rs_2145094630

1 SubmittersRCV001381718

NM_032043.3(BRIP1):c.254C>G (p.Ser85Ter)

SNV
Germline

Chr17:61857183

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400485524

rs_587781830

1 SubmittersRCV001387221

NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter)

SNV
Germline

Chr17:61857186

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485533

rs_2145830278

2 SubmittersRCV001381413 RCV002456597

NM_001018115.3(FANCD2):c.1338A>C (p.Leu446=)

SNV
Germline

Chr3:10047976

Conflicting classifications of pathogenicity

Fanconi anemia
FANCD2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2249612

rs_752268889

3 SubmittersRCV001410751 RCV003963300 RCV001820106

NM_004629.2(FANCG):c.1473A>G (p.Lys491=)

SNV
Germline

Chr9:35075286

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5039731

rs_769921972

3 SubmittersRCV001391819 RCV003145656 RCV005340861

NM_004629.2(FANCG):c.176-10G>A

SNV
Germline

Chr9:35078746

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
FANCG-related disorder

Criteria Provided
Conflicting Classifications

CA5040108

rs_376273679

3 SubmittersRCV001402808 RCV003238367 RCV003938683

NM_020937.4(FANCM):c.195G>A (p.Glu65=)

SNV
Germline

Chr14:45136226

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA486346357

rs_1885485132

3 SubmittersRCV001400155 RCV003478815 RCV005340880

NM_000135.4(FANCA):c.2778+83C>T

SNV
Germline

Chr16:89764807

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8251547

rs_750997715

2 SubmittersRCV001408136

NM_058216.3(RAD51C):c.13A>T (p.Thr5Ser)

SNV
Germline

Chr17:58692656

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400336152

rs_1314517659

3 SubmittersRCV001859337 RCV001779184 RCV004038186

NM_058216.3(RAD51C):c.656T>A (p.Leu219Ter)

SNV
Germline

Chr17:58703280

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA400349738

rs_201529791

4 SubmittersRCV001779203 RCV001859338

NM_058216.3(RAD51C):c.705+1G>T

SNV
Germline

Chr17:58703330

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA400350199

rs_876658644

3 SubmittersRCV001779206 RCV002554101

NM_058216.3(RAD51C):c.706-1G>A

SNV
Germline

Chr17:58709858

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400353034

rs_1555599090

3 SubmittersRCV001859339 RCV002298949 RCV001779207

NM_058216.3(RAD51C):c.1009G>T (p.Val337Leu)

SNV
Germline

Chr17:58732527

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400365100

rs_2049473367

3 SubmittersRCV001779217 RCV002554103 RCV004945127

NM_020937.4(FANCM):c.4223-4A>G

SNV
Germline

Chr14:45181426

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7169662

rs_191128410

3 SubmittersRCV001428615 RCV001569964

NM_005236.3(ERCC4):c.537A>G (p.Glu179=)

SNV
Germline

Chr16:13926709

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
not specified
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA7910215

rs_373408411

3 SubmittersRCV001437611 RCV001820131 RCV002258256

NM_000135.4(FANCA):c.3736C>T (p.Leu1246=)

SNV
Germline

Chr16:89742829

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA497194911

rs_2062169927

3 SubmittersRCV001439431 RCV004980487 RCV004998899

NM_000135.4(FANCA):c.3540G>A (p.Val1180=)

SNV
Germline

Chr16:89745045

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA497195227

rs_1423399664

3 SubmittersRCV001429801 RCV001820124 RCV005562761

NM_000135.4(FANCA):c.3409-9C>G

SNV
Germline

Chr16:89746697

Conflicting classifications of pathogenicity

Fanconi anemia
FANCA-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251162

rs_368943794

4 SubmittersRCV001429127 RCV003946126 RCV002261363

NM_000135.4(FANCA):c.2504+10T>G

SNV
Germline

Chr16:89769827

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251708

rs_770043372

2 SubmittersRCV001447493 RCV001509532

NM_000135.4(FANCA):c.1557C>T (p.Ala519=)

SNV
Germline

Chr16:89783016

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252277

rs_765079866

2 SubmittersRCV001447909 RCV005014568

NM_000135.4(FANCA):c.1098G>T (p.Leu366=)

SNV
Germline

Chr16:89792054

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA497192703

rs_1598152908

2 SubmittersRCV001422310 RCV005014560

NM_020937.4(FANCM):c.2046A>G (p.Glu682=)

SNV
Germline

Chr14:45170632

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7169228

rs_201216865

3 SubmittersRCV001453283 RCV002282552

NM_000135.4(FANCA):c.3639T>C (p.Pro1213=)

SNV
Germline

Chr16:89742926

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA497195052

rs_1567598479

3 SubmittersRCV001472526 RCV005340969

NM_000135.4(FANCA):c.2151+7G>A

SNV
Germline

Chr16:89771671

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA2241911418

rs_2039330078

3 SubmittersRCV001455479 RCV003478841 RCV002501596

NM_000135.4(FANCA):c.1901-9T>C

SNV
Germline

Chr16:89773393

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286568236

rs_886052486

2 SubmittersRCV001476844 RCV002476788

NM_000135.4(FANCA):c.427-6T>C

SNV
Germline

Chr16:89810808

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA624454932

rs_1295402252

2 SubmittersRCV001457874 RCV005001222

NM_000135.4(FANCA):c.283+9T>C

SNV
Germline

Chr16:89814511

Conflicting classifications of pathogenicity

Fanconi anemia
FANCA-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8253098

rs_779593295

3 SubmittersRCV001462986 RCV003920981 RCV001800996

NM_032043.3(BRIP1):c.2936A>G (p.Lys979Arg)

SNV
Germline

Chr17:61684110

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400480710

rs_2061326120

4 SubmittersRCV001461041 RCV002439094 RCV003463043

NM_001018113.3(FANCB):c.1912A>G (p.Lys638Glu)

SNV
Germline

ChrX:14844871

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10352992

rs_776713934

3 SubmittersRCV001460372 RCV003238370

NM_004629.2(FANCG):c.1662G>A (p.Leu554=)

SNV
Germline

Chr9:35074469

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA5039656

rs_750982155

2 SubmittersRCV001496188

NM_020937.4(FANCM):c.4005A>G (p.Lys1335=)

SNV
Germline

Chr14:45176759

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Inborn genetic diseases
FANCM-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA486347460

rs_1888735204

5 SubmittersRCV001497932 RCV001820208 RCV004980562 RCV004540452 RCV004998931

NM_020937.4(FANCM):c.5745A>G (p.Thr1915=)

SNV
Germline

Chr14:45198672

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7170061

rs_535316621

3 SubmittersRCV001479460 RCV004998921 RCV005340977

NM_032444.4(SLX4):c.4739+7G>A

SNV
Germline

Chr16:3584762

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA7865533

rs_748897456

2 SubmittersRCV001489578 RCV002272473

NM_000135.4(FANCA):c.3828+10A>G

SNV
Germline

Chr16:89740794

Conflicting classifications of pathogenicity

Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

CA8250951

rs_368372404

2 SubmittersRCV001491838 RCV001820192

NM_000135.4(FANCA):c.1716-10T>G

SNV
Germline

Chr16:89779013

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA624252670

rs_1270971513

2 SubmittersRCV001480841 RCV003481112

NM_000135.4(FANCA):c.946C>T (p.Leu316=)

SNV
Germline

Chr16:89795966

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252616

rs_775506986

5 SubmittersRCV001481793 RCV004809636 RCV005340981

NM_032043.3(BRIP1):c.2538T>C (p.Asp846=)

SNV
Germline

Chr17:61693467

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501144656

rs_2144186341

4 SubmittersRCV001482164 RCV002432351 RCV004789617 RCV004998925

NM_032043.3(BRIP1):c.1140+9A>G

SNV
Germline

Chr17:61801244

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA2499224805

rs_2145330850

2 SubmittersRCV001504014 RCV005601784

NM_000135.4(FANCA):c.3240-11C>G

SNV
Germline

Chr16:89748778

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8251257

rs_138826926

2 SubmittersRCV001508801 RCV002070285

NM_000135.4(FANCA):c.2316+13T>C

SNV
Germline

Chr16:89770153

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2499223836

rs_2143335460

2 SubmittersRCV001509533 RCV003635960

NM_000135.4(FANCA):c.893+19C>G

SNV
Germline

Chr16:89799147

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252701

rs_377406711

3 SubmittersRCV001509535 RCV002070287 RCV005232359

NM_032043.3(BRIP1):c.1629-1G>A

SNV
Germline

Chr17:61781006

Likely pathogenic

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400480595

rs_1060501757

3 SubmittersRCV001529467 RCV003771637

NM_001018115.3(FANCD2):c.1279-2A>G

SNV
Germline

Chr3:10047915

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2249595

rs_748006255

3 SubmittersRCV001536029 RCV005001226

NM_000135.4(FANCA):c.2504+1G>C

SNV
Germline

Chr16:89769836

Likely pathogenic

Abnormality of blood and blood-forming tissues
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397442936

rs_2039260545

2 SubmittersRCV001814541 RCV002570638

NM_000136.3(FANCC):c.839C>A (p.Ser280Ter)

SNV
Germline

Chr9:95135350

Pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA374109175

rs_749230615

2 SubmittersRCV001553466 RCV002032598

NM_032043.3(BRIP1):c.507+1G>T

SNV
Germline

Chr17:61849128

Pathogenic/Likely pathogenic

Breast carcinoma
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400484342

rs_2145761239

5 SubmittersRCV001554254 RCV002334598 RCV003474007 RCV002568350

NM_005236.3(ERCC4):c.616C>T (p.Gln206Ter)

SNV
Germline

Chr16:13928059

Likely pathogenic

Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

CA394802259

rs_2141946068

1 SubmittersRCV001554280

NM_020937.4(FANCM):c.4673-12A>G

SNV
Germline

Chr14:45187769

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7169834

rs_373163994

3 SubmittersRCV001560452 RCV002256820 RCV002072125

NM_020937.4(FANCM):c.5152G>A (p.Val1718Met)

SNV
Germline

Chr14:45189174

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Premature ovarian failure 15
Spermatogenic failure 28
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7169916

rs_371629950

4 SubmittersRCV001569845 RCV004039361 RCV002476871 RCV002570774

NM_000135.4(FANCA):c.2602-1G>T

SNV
Germline

Chr16:89765067

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397438949

rs_747823528

2 SubmittersRCV001568536 RCV003523097

NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter)

SNV
Germline

Chr17:58724042

Pathogenic

Breast carcinoma
Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA400361278

rs_2143961266

2 SubmittersRCV001579300 RCV001866089

NM_004629.2(FANCG):c.1027C>T (p.Gln343Ter)

SNV
Germline

Chr9:35076481

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

CA373310766

rs_1829085768

1 SubmittersRCV001580703

NM_000135.4(FANCA):c.1344T>G (p.Tyr448Ter)

SNV
Germline

Chr16:89791418

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397463689

rs_1199670660

1 SubmittersRCV001615348

NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg)

SNV
Germline

Chr16:89748725

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA397486327

rs_761244757

2 SubmittersRCV001615349

NM_001018115.3(FANCD2):c.206-1G>T

SNV
Germline

Chr3:10034468

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351719994

rs_2124974541

2 SubmittersRCV001615373 RCV003470873

NM_001018115.3(FANCD2):c.2976+5G>A

SNV
Germline

Chr3:10078202

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
not specified

Criteria Provided
Conflicting Classifications

CA2250235

rs_748710535

3 SubmittersRCV001615374 RCV001780416 RCV001821924

NM_004629.2(FANCG):c.346C>T (p.Gln116Ter)

SNV
Germline

Chr9:35078305

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373314586

rs_1829123346

1 SubmittersRCV001615379

NM_000135.4(FANCA):c.826+2T>C

SNV
Germline

Chr16:89799603

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA397473388

rs_2143585058

2 SubmittersRCV001615381

NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter)

SNV
Germline

Chr9:35075646

Pathogenic/Likely pathogenic

Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA373308564

rs_886063896

2 SubmittersRCV001615382

NM_004629.2(FANCG):c.1375C>T (p.Gln459Ter)

SNV
Germline

Chr9:35075523

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373307178

rs_2131053817

1 SubmittersRCV001615383

NM_004629.2(FANCG):c.1468G>T (p.Glu490Ter)

SNV
Germline

Chr9:35075291

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373305694

rs_2131053417

1 SubmittersRCV001615384

NM_004629.2(FANCG):c.1572G>A (p.Trp524Ter)

SNV
Germline

Chr9:35074991

Pathogenic

Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA373304035

rs_1461242610

2 SubmittersRCV001615385

NM_004629.2(FANCG):c.1501C>T (p.Gln501Ter)

SNV
Germline

Chr9:35075062

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373305039

rs_2131053086

1 SubmittersRCV001615386

NM_001113378.2(FANCI):c.3907G>T (p.Glu1303Ter)

SNV
Germline

Chr15:89315372

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA393744880

rs_544848412

2 SubmittersRCV001615389 RCV005005266

NM_000136.3(FANCC):c.70C>T (p.Gln24Ter)

SNV
Germline

Chr9:95249222

Pathogenic/Likely pathogenic

Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

CA374340399

rs_2136101386

3 SubmittersRCV001615391 RCV002368623 RCV003339687

NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)

SNV
Germline

Chr3:10046667

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA2249552

rs_771869385

4 SubmittersRCV001615393 RCV003146223

NM_020937.4(FANCM):c.4387-13C>T

SNV
Germline

Chr14:45183761

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7169734

rs_548622939

2 SubmittersRCV001659071 RCV002073068

NM_001113378.2(FANCI):c.3721-1G>C

SNV
Germline

Chr15:89314611

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA393743826

rs_1173483373

2 SubmittersRCV001726964 RCV003635964

NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)

SNV
Germline

Chr3:10088463

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA2250416

rs_369022159

5 SubmittersRCV001727234 RCV003464125 RCV002032693

NM_000136.3(FANCC):c.491A>C (p.Asn164Thr)

SNV
Germline

Chr9:95171109

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA196885560

rs_950623649

4 SubmittersRCV001732365 RCV002343807 RCV002539805 RCV002488492

NM_058216.3(RAD51C):c.73G>C (p.Val25Leu)

SNV
Germline

Chr17:58692716

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400336961

rs_757116652

4 SubmittersRCV001757901 RCV003584977 RCV003507385

NM_058216.3(RAD51C):c.492T>A (p.Phe164Leu)

SNV
Germline

Chr17:58696780

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400344838

rs_573992101

3 SubmittersRCV001764849 RCV005094948 RCV005428416

NM_001018113.3(FANCB):c.1103C>T (p.Ser368Leu)

SNV
Germline

ChrX:14859183

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
FANCB-related disorder
Fanconi anemia complementation group B
VACTERL association, X-linked, with or without hydrocephalus

Criteria Provided
Conflicting Classifications

CA10353130

rs_143585647

5 SubmittersRCV001761472 RCV002074016 RCV003892830 RCV005396998

NM_021922.3(FANCE):c.1069C>T (p.Leu357Phe)

SNV
Germline

Chr6:35458396

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group E
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3771590

rs_185230199

5 SubmittersRCV001761481 RCV001868557 RCV002539157

NM_000136.3(FANCC):c.1131A>C (p.Glu377Asp)

SNV
Germline

Chr9:95114652

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374107951

rs_2134631019

3 SubmittersRCV001764046 RCV002540507 RCV004616773

NM_020937.4(FANCM):c.5532A>G (p.Gln1844=)

SNV
Germline

Chr14:45196363

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA259601605

rs_970724368

3 SubmittersRCV001771437 RCV003635968 RCV004738375

NM_020937.4(FANCM):c.1265G>A (p.Arg422His)

SNV
Germline

Chr14:45154778

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7168980

rs_570510177

4 SubmittersRCV001771460 RCV002540546 RCV005572637

NM_021922.3(FANCE):c.145G>C (p.Ala49Pro)

SNV
Germline

Chr6:35452690

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group E
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA363770381

rs_1225225979

3 SubmittersRCV001771521 RCV002488598 RCV003154191

NM_004629.2(FANCG):c.308-11A>G

SNV
Germline

Chr9:35078354

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5040070

rs_371822998

2 SubmittersRCV002540705 RCV003238410

NM_018062.4(FANCL):c.641T>C (p.Leu214Pro)

SNV
Germline

Chr2:58165774

Conflicting classifications of pathogenicity

Fanconi anemia complementation group L
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1670534

rs_766618785

2 SubmittersRCV003388043 RCV003238622

NM_018062.4(FANCL):c.565C>T (p.Gln189Ter)

SNV
Germline

Chr2:58165850

Pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA346937969

rs_1191111879

2 SubmittersRCV003238623 RCV003635972

NM_032444.4(SLX4):c.4637-17T>G

SNV
Germline

Chr16:3584888

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7865565

rs_112687420

2 SubmittersRCV002074050 RCV003237486

NM_032444.4(SLX4):c.3190G>A (p.Gly1064Arg)

SNV
Germline

Chr16:3590448

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Inborn genetic diseases
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7865969

rs_142079276

4 SubmittersRCV001761861 RCV002540733 RCV001868792 RCV003237510

NM_000136.3(FANCC):c.14C>T (p.Ser5Leu)

SNV
Germline

Chr9:95249278

Conflicting classifications of pathogenicity

Fanconi anemia complementation group C
Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374340521

rs_1831182314

5 SubmittersRCV001761864 RCV002464487 RCV002540734 RCV005341050

NM_000135.4(FANCA):c.1827-2A>G

SNV
Germline

Chr16:89775817

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397452233

rs_2143393518

4 SubmittersRCV002544206 RCV003325232 RCV003237526

NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter)

SNV
Germline

Chr17:61744507

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483073

rs_1296238058

3 SubmittersRCV001868799 RCV003237602 RCV003336429

NM_020937.4(FANCM):c.1397-14A>T

SNV
Germline

Chr14:45159082

Conflicting classifications of pathogenicity

Spermatogenic failure 28
Premature ovarian failure 15
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7169047

rs_757351765

3 SubmittersRCV002506810 RCV002540743 RCV003237677

NM_001113378.2(FANCI):c.1699-11C>T

SNV
Germline

Chr15:89285085

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA274567106

rs_753750358

3 SubmittersRCV002074054 RCV003237704

NM_001018113.3(FANCB):c.1225C>T (p.Arg409Trp)

SNV
Germline

ChrX:14853140

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10353086

rs_750569208

3 SubmittersRCV002077211 RCV003238106

NM_000135.4(FANCA):c.1509C>G (p.Tyr503Ter)

SNV
Germline

Chr16:89783064

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397458159

rs_1598136954

1 SubmittersRCV001775050

NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter)

SNV
Germline

Chr16:89771686

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8251895

rs_781436006

2 SubmittersRCV001783242 RCV002034561

NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)

SNV
Germline

Chr16:89808310

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397479183

rs_1384166265

4 SubmittersRCV001783244 RCV002544245

NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter)

SNV
Germline

Chr16:89749735

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397486429

rs_764030196

2 SubmittersRCV001783246 RCV002541143

NM_000135.4(FANCA):c.1567-1G>C

SNV
Germline

Chr16:89782919

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397458037

rs_1464032361

2 SubmittersRCV001783247 RCV002544246

NM_001018115.3(FANCD2):c.2977-2A>G

SNV
Germline

Chr3:10081098

Pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351747086

rs_1206160345

1 SubmittersRCV001783257

NM_001018115.3(FANCD2):c.3500G>A (p.Trp1167Ter)

SNV
Germline

Chr3:10088482

Pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351752932

rs_2125076610

1 SubmittersRCV001783258

NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)

SNV
Germline

Chr3:10065974

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA2250051

rs_755350165

4 SubmittersRCV001783260 RCV001885160

NM_004629.2(FANCG):c.910G>T (p.Glu304Ter)

SNV
Germline

Chr9:35076738

Pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

CA373312830

rs_1829091954

1 SubmittersRCV001783263

NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter)

SNV
Germline

Chr16:23635358

Pathogenic

Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395133305

rs_587780817

3 SubmittersRCV001784795 RCV003316849

NM_032444.4(SLX4):c.4625T>A (p.Leu1542Ter)

SNV
Germline

Chr16:3589013

Pathogenic

Fanconi anemia complementation group P

Criteria Provided
Single Submitter

CA394516756

rs_2040540029

1 SubmittersRCV001784993

NM_000136.3(FANCC):c.2T>C (p.Met1Thr)

SNV
Germline

Chr9:95249290

Conflicting classifications of pathogenicity

Fanconi anemia complementation group C
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA374340550

rs_2136102345

2 SubmittersRCV001781081 RCV005057617

NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter)

SNV
Germline

Chr3:10039292

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA351723604

rs_2086805219

3 SubmittersRCV001781082 RCV005095132

NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)

SNV
Germline

Chr3:10092220

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2250526

rs_745930696

5 SubmittersRCV001885181 RCV001781086 RCV003434317

NM_021922.3(FANCE):c.1238-1G>C

SNV
Germline

Chr6:35459681

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Multiple Submitters
No Conflicts

CA363776991

rs_1767507722

3 SubmittersRCV001781087

NM_004629.2(FANCG):c.1761-2A>C

SNV
Germline

Chr9:35074218

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA5039626

rs_765150956

3 SubmittersRCV001781088

NM_001113378.2(FANCI):c.1891-2A>G

SNV
Germline

Chr15:89291611

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA7723210

rs_776329920

3 SubmittersRCV001885182 RCV003464140

NM_032444.4(SLX4):c.951-1G>T

SNV
Germline

Chr16:3601192

Likely pathogenic

Fanconi anemia complementation group P
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394532130

rs_750371433

2 SubmittersRCV001783778 RCV001822004

NM_032043.3(BRIP1):c.205+2T>C

SNV
Germline

Chr17:61859794

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485637

rs_1060501763

2 SubmittersRCV001784051 RCV003336432

NM_000136.3(FANCC):c.495T>C (p.His165=)

SNV
Germline

Chr9:95171105

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA466274732

rs_2135578887

2 SubmittersRCV001801153 RCV002074150

NM_001018115.3(FANCD2):c.1827+1G>C

SNV
Germline

Chr3:10062212

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA2249812

rs_761074497

1 SubmittersRCV001806732

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
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387783030

rs_2137509604

3 SubmittersRCV001806374 RCV002541449 RCV005601798

NM_058216.3(RAD51C):c.724G>T (p.Asp242Tyr)

SNV
Germline

Chr17:58709877

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400353282

rs_876659188

4 SubmittersRCV001815830 RCV003375364 RCV005095239 RCV005421037

NM_018062.4(FANCL):c.1A>T (p.Met1Leu)

SNV
Germline

Chr2:58241313

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA1670857

rs_772037896

2 SubmittersRCV001815885 RCV003635974

NM_000135.4(FANCA):c.2070C>T (p.His690=)

SNV
Germline

Chr16:89771759

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA497185133

rs_1422723344

2 SubmittersRCV001817379 RCV002541992

NM_032444.4(SLX4):c.1569T>C (p.Pro523=)

SNV
Germline

Chr16:3597493

Conflicting classifications of pathogenicity

Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

CA493269169

rs_2151131241

2 SubmittersRCV002074284 RCV001817423

NM_000135.4(FANCA):c.596+12A>G

SNV
Germline

Chr16:89808282

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8252917

rs_377151927

2 SubmittersRCV001817620 RCV002077288

NM_000135.4(FANCA):c.3315C>T (p.Cys1105=)

SNV
Germline

Chr16:89748692

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8251237

rs_749550737

2 SubmittersRCV001819290 RCV002542557

NM_001113378.2(FANCI):c.3078G>A (p.Lys1026=)

SNV
Germline

Chr15:89305134

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA492064110

rs_2151913000

2 SubmittersRCV001819345 RCV002542561

NM_000135.4(FANCA):c.2853-7G>T

SNV
Germline

Chr16:89758712

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2573054313

rs_1244691285

2 SubmittersRCV001819392 RCV005095249

NM_032444.4(SLX4):c.1672C>A (p.Arg558=)

SNV
Germline

Chr16:3597390

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7866455

rs_372264472

2 SubmittersRCV001819544 RCV002074313

NM_001113378.2(FANCI):c.3622C>T (p.Leu1208=)

SNV
Germline

Chr15:89307643

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA492065535

rs_1448880215

2 SubmittersRCV001820356 RCV001869718

NM_005236.3(ERCC4):c.576G>C (p.Leu192=)

SNV
Germline

Chr16:13926748

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome

Criteria Provided
Conflicting Classifications

CA493424896

rs_2141944936

2 SubmittersRCV001820410 RCV002074332

NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile)

SNV
Germline

Chr16:89764933

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
FANCA-related disorder
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251581

rs_376302719

6 SubmittersRCV001820474 RCV002542628 RCV003394276 RCV002489878 RCV004998963 RCV005341063

NM_001113378.2(FANCI):c.3948A>G (p.Gly1316=)

SNV
Germline

Chr15:89316420

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA492069320

rs_1443770274

2 SubmittersRCV001820542 RCV003635978

NM_022725.4(FANCF):c.555C>T (p.Pro185=)

SNV
Germline

Chr11:22625256

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA473533922

rs_1156693900

2 SubmittersRCV001820657 RCV002077306

NM_001113378.2(FANCI):c.2457-8C>G

SNV
Germline

Chr15:89294907

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2573054116

rs_2151754256

2 SubmittersRCV001822514 RCV002074359

NM_032444.4(SLX4):c.2160+8C>T

SNV
Germline

Chr16:3594445

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7866273

rs_374004875

3 SubmittersRCV001822516 RCV002077316 RCV003913412

NM_001018115.3(FANCD2):c.531C>G (p.Val177=)

SNV
Germline

Chr3:10039318

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA432429648

rs_747006885

3 SubmittersRCV001822635 RCV002482368 RCV003523113

NM_032444.4(SLX4):c.2940C>T (p.Ala980=)

SNV
Germline

Chr16:3590698

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA493391815

rs_1415684146

2 SubmittersRCV001822698 RCV002077317

NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter)

SNV
Germline

Chr16:89739204

Pathogenic/Likely pathogenic

Condition: not provided
FANCA-related disorder
Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397484423

rs_1336834251

4 SubmittersRCV001817684 RCV003401739 RCV003635979 RCV004571115

NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter)

SNV
Germline

Chr3:10087183

Pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA351752095

rs_2125072527

2 SubmittersRCV001817744 RCV002545180

NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)

SNV
Germline

Chr16:13926751

Pathogenic

Condition: not provided
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
ERCC4-Related Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA7910224

rs_753325454

3 SubmittersRCV001817844 RCV001869789 RCV004782796

NM_021922.3(FANCE):c.164G>A (p.Trp55Ter)

SNV
Germline

Chr6:35452709

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group E

Criteria Provided
Multiple Submitters
No Conflicts

CA363770497

rs_2150885915

2 SubmittersRCV001818009 RCV003509701

NM_000135.4(FANCA):c.1640C>T (p.Ala547Val)

SNV
Germline

Chr16:89779944

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252183

rs_550821697

3 SubmittersRCV001844448 RCV002543294 RCV004980743

NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter)

SNV
Germline

Chr16:89738884

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA286614248

rs_984285795

2 SubmittersRCV001844451 RCV003464156

NM_000135.4(FANCA):c.427-3C>G

SNV
Germline

Chr16:89810805

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA2241938851

rs_2040847223

1 SubmittersRCV001844452

NM_000135.4(FANCA):c.797C>T (p.Thr266Met)

SNV
Germline

Chr16:89799634

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252771

rs_752799441

2 SubmittersRCV002012325 RCV002492095

NM_004629.2(FANCG):c.1062C>A (p.Cys354Ter)

SNV
Germline

Chr9:35076446

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373310612

rs_745928033

1 SubmittersRCV001931723

NM_032043.3(BRIP1):c.1473+1G>T

SNV
Germline

Chr17:61793596

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8690739

rs_748274524

3 SubmittersRCV002024150 RCV002469450 RCV005535258

NM_032043.3(BRIP1):c.2258-1G>T

SNV
Germline

Chr17:61743135

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482769

rs_1064793887

3 SubmittersRCV002028035 RCV004596508 RCV003336503

NM_001113378.2(FANCI):c.1293+1G>A

SNV
Germline

Chr15:89276892

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA7722960

rs_768310043

1 SubmittersRCV001990629

NM_001018115.3(FANCD2):c.64+2T>G

SNV
Germline

Chr3:10028723

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351715944

rs_2124961184

3 SubmittersRCV002048995 RCV002486780

NM_000135.4(FANCA):c.2735C>A (p.Thr912Lys)

SNV
Germline

Chr16:89764933

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397438117

rs_376302719

2 SubmittersRCV001923083 RCV005343142

NM_020937.4(FANCM):c.1420C>T (p.Arg474Cys)

SNV
Germline

Chr14:45159119

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA259618702

rs_999205481

2 SubmittersRCV002012836 RCV005343244

NM_032043.3(BRIP1):c.3289G>T (p.Glu1097Ter)

SNV
Germline

Chr17:61683757

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400479047

rs_770509300

1 SubmittersRCV002014985

NM_018062.4(FANCL):c.295C>T (p.Gln99Ter)

SNV
Germline

Chr2:58222021

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347034538

rs_1196510455

1 SubmittersRCV001919910

NM_001018115.3(FANCD2):c.1825C>T (p.Gln609Ter)

SNV
Germline

Chr3:10062209

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351728805

rs_1247410343

1 SubmittersRCV002004937

NM_000135.4(FANCA):c.426+2T>A

SNV
Germline

Chr16:89810927

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397480846

rs_1598190568

1 SubmittersRCV001974185

NM_032444.4(SLX4):c.5208C>T (p.Gly1736=)

SNV
Germline

Chr16:3582639

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7865378

rs_569225834

2 SubmittersRCV001899312 RCV002503440

NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter)

SNV
Germline

Chr15:89263426

Pathogenic/Likely pathogenic

Fanconi anemia
FANCI-related disorder
Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA274538395

rs_771312042

3 SubmittersRCV001912597 RCV003401850 RCV005006185

NM_004629.2(FANCG):c.1481-1G>C

SNV
Germline

Chr9:35075083

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373305269

rs_2131053141

1 SubmittersRCV002046098

NM_020937.4(FANCM):c.1581+1G>A

SNV
Germline

Chr14:45159281

Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7169088

rs_373430198

2 SubmittersRCV001966317 RCV003327548

NM_000135.4(FANCA):c.1854C>G (p.Tyr618Ter)

SNV
Germline

Chr16:89775788

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397452011

rs_747994845

1 SubmittersRCV001945161

NM_000136.3(FANCC):c.1330-2A>C

SNV
Germline

Chr9:95107271

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374106302

rs_2134456820

1 SubmittersRCV002050320

NM_032444.4(SLX4):c.4837G>T (p.Glu1613Ter)

SNV
Germline

Chr16:3583413

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA394515273

rs_761469284

2 SubmittersRCV003232463 RCV001945050

NM_000135.4(FANCA):c.2317-1G>A

SNV
Germline

Chr16:89770025

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397444709

rs_1230207719

1 SubmittersRCV002032199

NM_000135.4(FANCA):c.3672G>A (p.Trp1224Ter)

SNV
Germline

Chr16:89742893

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397485466

rs_2143062233

1 SubmittersRCV001939405

NM_000136.3(FANCC):c.1490G>A (p.Trp497Ter)

SNV
Germline

Chr9:95107109

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

CA374105647

rs_762501862

2 SubmittersRCV001941835 RCV005042593

NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter)

SNV
Germline

Chr17:61744463

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA400482919

rs_2144696024

2 SubmittersRCV001888718 RCV005361793

NM_020937.4(FANCM):c.759+2T>C

SNV
Germline

Chr14:45140711

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389589200

rs_902753970

1 SubmittersRCV001961522

NM_020937.4(FANCM):c.5717-4T>A

SNV
Germline

Chr14:45198640

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7170058

rs_781258517

3 SubmittersRCV001864287 RCV002265036 RCV003151355

NM_032043.3(BRIP1):c.1685T>C (p.Ile562Thr)

SNV
Germline

Chr17:61780949

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400480468

rs_2077610488

2 SubmittersRCV001953339 RCV004043220

NM_000135.4(FANCA):c.562C>T (p.Gln188Ter)

SNV
Germline

Chr16:89808328

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397479274

rs_776471397

1 SubmittersRCV001875644

NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter)

SNV
Germline

Chr17:61801315

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483982

rs_2145334576

2 SubmittersRCV001933132 RCV003464233

NM_000136.3(FANCC):c.456+1G>A

SNV
Germline

Chr9:95172036

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374338690

rs_2135587402

1 SubmittersRCV002019542

NM_004629.2(FANCG):c.1007C>A (p.Ser336Ter)

SNV
Germline

Chr9:35076501

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373310884

rs_2131055405

1 SubmittersRCV001900042

NM_000135.4(FANCA):c.1226-1G>C

SNV
Germline

Chr16:89791537

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397464646

rs_1417768931

2 SubmittersRCV001889270 RCV004571540

NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys)

SNV
Germline

Chr16:89770216

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified

Criteria Provided
Conflicting Classifications

CA8251807

rs_556748657

3 SubmittersRCV001948275 RCV002507601 RCV002266062

NM_022725.4(FANCF):c.3G>A (p.Met1Ile)

SNV
Germline

Chr11:22625808

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA380060184

rs_2133798927

1 SubmittersRCV001970176

NM_004629.2(FANCG):c.76C>T (p.Gln26Ter)

SNV
Germline

Chr9:35079449

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373315885

rs_2131060266

1 SubmittersRCV001950952

NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter)

SNV
Germline

Chr15:89274190

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA393741544

rs_761982725

3 SubmittersRCV001979170 RCV002484717

NM_001113378.2(FANCI):c.2291+2T>A

SNV
Germline

Chr15:89293065

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA393749589

rs_1400441798

2 SubmittersRCV001992032 RCV003464371

NM_000135.4(FANCA):c.1900+1G>A

SNV
Germline

Chr16:89775741

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397451761

rs_1598120768

1 SubmittersRCV002012997

NM_058216.3(RAD51C):c.981C>A (p.Tyr327Ter)

SNV
Germline

Chr17:58732499

Pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA400364902

rs_2144044910

1 SubmittersRCV001893294

NM_020937.4(FANCM):c.466C>T (p.Gln156Ter)

SNV
Germline

Chr14:45136497

Pathogenic

Fanconi anemia
FANCM-related disorder

Criteria Provided
Single Submitter

CA389588388

rs_1885521004

2 SubmittersRCV001954597 RCV004728940

NM_020937.4(FANCM):c.4194T>G (p.Tyr1398Ter)

SNV
Germline

Chr14:45176948

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389604704

rs_1235515288

1 SubmittersRCV001931111

NM_000135.4(FANCA):c.4285G>C (p.Asp1429His)

SNV
Germline

Chr16:89738684

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397483115

rs_748856769

2 SubmittersRCV001985509 RCV004999565

NM_058216.3(RAD51C):c.725A>T (p.Asp242Val)

SNV
Germline

Chr17:58709878

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400353296

rs_2048494505

3 SubmittersRCV001955929 RCV003585164 RCV005428450

NM_001018115.3(FANCD2):c.2169-1G>C

SNV
Germline

Chr3:10065393

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351734242

rs_141783465

2 SubmittersRCV002040195 RCV003471250

NM_032043.3(BRIP1):c.3097C>T (p.Pro1033Ser)

SNV
Germline

Chr17:61683949

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400479760

rs_876659119

2 SubmittersRCV002010641 RCV002324469

NM_032444.4(SLX4):c.4739+1G>T

SNV
Germline

Chr16:3584768

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA7865537

rs_759186986

1 SubmittersRCV002012901

NM_032043.3(BRIP1):c.2812G>T (p.Glu938Ter)

SNV
Germline

Chr17:61685929

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400481480

rs_199643061

1 SubmittersRCV001949273

NM_000135.4(FANCA):c.626G>A (p.Trp209Ter)

SNV
Germline

Chr16:89805363

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397478137

rs_2143632171

1 SubmittersRCV001953882

NM_032444.4(SLX4):c.3844C>T (p.Leu1282=)

SNV
Germline

Chr16:3589794

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7865816

rs_772652088

2 SubmittersRCV002008462 RCV002492247

NM_000135.4(FANCA):c.767C>A (p.Thr256Asn)

SNV
Germline

Chr16:89803284

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA286605282

rs_377078635

3 SubmittersRCV002051126 RCV002254728 RCV005341071

NM_032043.3(BRIP1):c.1326C>A (p.Cys442Ter)

SNV
Germline

Chr17:61799114

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400483369

rs_2145300052

1 SubmittersRCV001891098

NM_004629.2(FANCG):c.1585C>T (p.Gln529Ter)

SNV
Germline

Chr9:35074978

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373303866

rs_1157985962

1 SubmittersRCV001951931

NM_020937.4(FANCM):c.2470G>A (p.Gly824Ser)

SNV
Germline

Chr14:45175224

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA389597919

rs_2139241694

2 SubmittersRCV001985017 RCV005565053

NM_058216.3(RAD51C):c.391A>C (p.Lys131Gln)

SNV
Germline

Chr17:58695176

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400341976

rs_2143727680

2 SubmittersRCV001942864 RCV005428434

NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)

SNV
Germline

Chr16:89791939

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397465957

rs_1280130060

5 SubmittersRCV001943582 RCV003464242 RCV004720977

NM_000136.3(FANCC):c.816C>G (p.Ile272Met)

SNV
Germline

Chr9:95135373

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374109225

rs_55719336

4 SubmittersRCV002246613 RCV001996931 RCV002423124

NM_032444.4(SLX4):c.3138C>T (p.Arg1046=)

SNV
Germline

Chr16:3590500

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA276959108

rs_527904726

2 SubmittersRCV002007831 RCV005008340

NM_001018113.3(FANCB):c.1327-1G>A

SNV
Germline

ChrX:14850675

Conflicting classifications of pathogenicity

Fanconi anemia
Glioma susceptibility 1
Fanconi anemia complementation group B

Criteria Provided
Conflicting Classifications

CA412442343

rs_1295003944

3 SubmittersRCV002007855 RCV004555895 RCV005042633

NM_000136.3(FANCC):c.1529C>A (p.Thr510Asn)

SNV
Germline

Chr9:95107070

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Ovarian cancer
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA374105476

rs_1233501553

5 SubmittersRCV002022619 RCV002282681 RCV003154056 RCV002398090 RCV005397259

NM_001113378.2(FANCI):c.1391C>A (p.Ser464Ter)

SNV
Germline

Chr15:89281179

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393743486

rs_2151549770

1 SubmittersRCV001958852

NM_000135.4(FANCA):c.457C>T (p.Gln153Ter)

SNV
Germline

Chr16:89810772

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397480781

rs_774448881

2 SubmittersRCV001975171 RCV004571749

NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser)

SNV
Germline

Chr3:10043509

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2249465

rs_144332316

3 SubmittersRCV002033449 RCV002497969 RCV004045215

NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter)

SNV
Germline

Chr17:58724050

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA400361314

rs_2143961567

3 SubmittersRCV004039889 RCV003164159 RCV001905455

NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser)

SNV
Germline

Chr16:89770574

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251847

rs_751015814

4 SubmittersRCV001913935 RCV002484544 RCV004616877 RCV004999003

NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter)

SNV
Germline

Chr16:3591169

Pathogenic/Likely pathogenic

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA394523840

rs_1267428175

2 SubmittersRCV002482537 RCV001962073

NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter)

SNV
Germline

ChrX:14864730

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group B

Criteria Provided
Multiple Submitters
No Conflicts

CA412443722

rs_2147445599

2 SubmittersRCV001927558 RCV004555628

NM_000135.4(FANCA):c.3935-2A>T

SNV
Germline

Chr16:89739555

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397484881

rs_1189106357

1 SubmittersRCV001901150

NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter)

SNV
Germline

Chr17:61776404

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400477967

rs_1603328406

2 SubmittersRCV001874686 RCV004040478

NM_020937.4(FANCM):c.5419A>G (p.Thr1807Ala)

SNV
Germline

Chr14:45196250

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7170000

rs_369834971

2 SubmittersRCV001884870 RCV004975797

NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter)

SNV
Germline

Chr16:13935183

Pathogenic

Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Single Submitter

CA7910429

rs_762738968

1 SubmittersRCV001919468

NM_000135.4(FANCA):c.2505-1G>C

SNV
Germline

Chr16:89767238

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397440969

rs_1438990537

1 SubmittersRCV002028818

NM_000135.4(FANCA):c.1070C>G (p.Ser357Ter)

SNV
Germline

Chr16:89792484

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397466626

rs_773687142

1 SubmittersRCV001919985

NM_000135.4(FANCA):c.2171C>T (p.Thr724Met)

SNV
Germline

Chr16:89770615

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA8251860

rs_777032467

3 SubmittersRCV001965614 RCV002507709 RCV003154227

NM_000135.4(FANCA):c.3434G>A (p.Ser1145Asn)

SNV
Germline

Chr16:89746663

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251151

rs_375630115

3 SubmittersRCV001886345 RCV002272518 RCV005552469

NM_004629.2(FANCG):c.1410A>G (p.Lys470=)

SNV
Germline

Chr9:35075488

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Conflicting Classifications

CA464413861

rs_2131053755

2 SubmittersRCV001884635 RCV005042471

NM_000136.3(FANCC):c.1155-2A>G

SNV
Germline

Chr9:95111639

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374107590

rs_1343170313

1 SubmittersRCV001977768

NM_004629.2(FANCG):c.176-1G>A

SNV
Germline

Chr9:35078737

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373315505

rs_2131059176

1 SubmittersRCV002025750

NM_032043.3(BRIP1):c.310A>G (p.Thr104Ala)

SNV
Germline

Chr17:61857127

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400485396

rs_2145828204

2 SubmittersRCV001874310 RCV004946790

NM_000136.3(FANCC):c.45G>A (p.Trp15Ter)

SNV
Germline

Chr9:95249247

Pathogenic/Likely pathogenic

Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

CA374340459

rs_1831179586

4 SubmittersRCV001993301 RCV004043989 RCV004571701

NM_000135.4(FANCA):c.1593C>A (p.Tyr531Ter)

SNV
Germline

Chr16:89782892

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397457981

rs_762342197

1 SubmittersRCV002000221

NM_000135.4(FANCA):c.1225+14C>T

SNV
Germline

Chr16:89791913

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252469

rs_376558078

2 SubmittersRCV002007118 RCV002492114

NM_020937.4(FANCM):c.1717C>T (p.Arg573Ter)

SNV
Germline

Chr14:45164494

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7169132

rs_140760056

2 SubmittersRCV001993204 RCV004770311

NM_032444.4(SLX4):c.3239C>G (p.Ser1080Ter)

SNV
Germline

Chr16:3590399

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394521310

rs_2151123968

1 SubmittersRCV001993246

NM_000135.4(FANCA):c.2222+1G>T

SNV
Germline

Chr16:89770563

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA8251841

rs_775388912

2 SubmittersRCV002019041 RCV003464346

NM_032043.3(BRIP1):c.627+2T>A

SNV
Germline

Chr17:61847099

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400482776

rs_2078745026

2 SubmittersRCV001974267 RCV004946971

NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)

SNV
Germline

Chr16:13920223

Pathogenic

Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

CA394816007

rs_1355878901

1 SubmittersRCV002037756

NM_000135.4(FANCA):c.2896G>T (p.Glu966Ter)

SNV
Germline

Chr16:89758662

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397431412

rs_1192724266

1 SubmittersRCV001999997

NM_000135.4(FANCA):c.2551C>T (p.Gln851Ter)

SNV
Germline

Chr16:89767191

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397440623

rs_1406289451

1 SubmittersRCV002037771

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
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10594450

rs_2053529032

5 SubmittersRCV002024551 RCV002346313 RCV004011160 RCV005361927

NM_001018115.3(FANCD2):c.2715+20C>G

SNV
Germline

Chr3:10073382

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA2250155

rs_199714316

2 SubmittersRCV001990085 RCV002484787

NM_032043.3(BRIP1):c.3070G>C (p.Gly1024Arg)

SNV
Germline

Chr17:61683976

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400479875

rs_147119272

3 SubmittersRCV002004830 RCV002442939 RCV004762273

NM_032444.4(SLX4):c.1573C>T (p.Arg525Cys)

SNV
Germline

Chr16:3597489

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7866487

rs_143831403

2 SubmittersRCV001903392 RCV002555252

NM_000135.4(FANCA):c.283+1G>A

SNV
Germline

Chr16:89814519

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397482412

rs_1232171121

2 SubmittersRCV001906162 RCV003464213

NM_000136.3(FANCC):c.227G>A (p.Trp76Ter)

SNV
Germline

Chr9:95247455

Pathogenic/Likely pathogenic

Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

CA374340038

rs_1189888124

3 SubmittersRCV002035479 RCV002442941 RCV004571704

NM_032043.3(BRIP1):c.2002G>T (p.Glu668Ter)

SNV
Germline

Chr17:61776496

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400478387

rs_2145031089

1 SubmittersRCV002035497

NM_000136.3(FANCC):c.844-1G>T

SNV
Germline

Chr9:95126582

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374109159

rs_774209201

1 SubmittersRCV002040417

NM_018062.4(FANCL):c.904-1G>A

SNV
Germline

Chr2:58161639

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA346933460

rs_2104783888

1 SubmittersRCV002009693

NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter)

SNV
Germline

Chr16:89742802

Pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397485275

rs_2062169243

2 SubmittersRCV001939484 RCV003107917

NM_000135.4(FANCA):c.137C>G (p.Ser46Ter)

SNV
Germline

Chr16:89815929

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397483405

rs_2041098068

1 SubmittersRCV001939493

NM_000135.4(FANCA):c.1353G>A (p.Trp451Ter)

SNV
Germline

Chr16:89791409

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397463610

rs_2143525603

1 SubmittersRCV001939553

NM_001018115.3(FANCD2):c.2016G>A (p.Pro672=)

SNV
Germline

Chr3:10064424

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA2249919

rs_552206789

2 SubmittersRCV002012728 RCV002486577

NM_032043.3(BRIP1):c.379+2T>C

SNV
Germline

Chr17:61857056

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485255

rs_2145825816

2 SubmittersRCV002012730 RCV003585185

NM_032043.3(BRIP1):c.2380-2A>C

SNV
Germline

Chr17:61716065

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400479874

rs_2144384449

1 SubmittersRCV001986837

NM_001018115.3(FANCD2):c.1349T>C (p.Ile450Thr)

SNV
Germline

Chr3:10047987

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2249617

rs_549790164

2 SubmittersRCV001931270 RCV004809704

NM_001018113.3(FANCB):c.493G>C (p.Gly165Arg)

SNV
Germline

ChrX:14865018

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group B

Criteria Provided
Conflicting Classifications

CA10353201

rs_146131050

2 SubmittersRCV001929393 RCV004785393

NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter)

SNV
Germline

Chr17:61801286

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483917

rs_1489355776

2 SubmittersRCV002002487 RCV003336475

NM_020937.4(FANCM):c.3628C>T (p.Gln1210Ter)

SNV
Germline

Chr14:45176382

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7169544

rs_372276411

2 SubmittersRCV001994869 RCV003442976

NM_032043.3(BRIP1):c.441C>A (p.Tyr147Ter)

SNV
Germline

Chr17:61849195

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400484491

rs_1603362622

1 SubmittersRCV001941606

NM_000136.3(FANCC):c.340A>G (p.Ile114Val)

SNV
Germline

Chr9:95240654

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374339172

rs_1830580247

2 SubmittersRCV002000441 RCV002331563

NM_020937.4(FANCM):c.4271G>A (p.Arg1424Gln)

SNV
Germline

Chr14:45181478

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA389607046

rs_1393856350

3 SubmittersRCV001883127 RCV004980841 RCV003238874

NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter)

SNV
Germline

Chr16:89748734

Pathogenic/Likely pathogenic

Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397486347

rs_1450151864

2 SubmittersRCV001953458

NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val)

SNV
Germline

Chr16:13947832

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA394822651

rs_756050702

2 SubmittersRCV002034990 RCV005552438

NM_001113378.2(FANCI):c.2804-1G>C

SNV
Germline

Chr15:89300299

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393737233

rs_2054480330

1 SubmittersRCV002035064

NM_058216.3(RAD51C):c.904+17A>G

SNV
Germline

Chr17:58720829

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA626737116

rs_760664998

2 SubmittersRCV001900519 RCV002482592

NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)

SNV
Germline

Chr3:10043143

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351730164

rs_1223055462

4 SubmittersRCV001970196 RCV003464310

NM_004629.2(FANCG):c.604G>T (p.Gly202Ter)

SNV
Germline

Chr9:35077306

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373314027

rs_1449918930

1 SubmittersRCV001946802

NM_000135.4(FANCA):c.4213C>T (p.Gln1405Ter)

SNV
Germline

Chr16:89738929

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397483453

rs_2151710810

1 SubmittersRCV001951051

NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter)

SNV
Germline

Chr17:61861525

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400486071

rs_2078973424

3 SubmittersRCV001951174 RCV004044383 RCV003336478

NM_001113378.2(FANCI):c.1512+1G>A

SNV
Germline

Chr15:89281301

Likely pathogenic

Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA393744467

rs_2151551135

2 SubmittersRCV002016812

NM_000136.3(FANCC):c.896+2T>A

SNV
Germline

Chr9:95126527

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

CA196557029

rs_863224441

2 SubmittersRCV002036364 RCV005042703

NM_032043.3(BRIP1):c.3221T>C (p.Ile1074Thr)

SNV
Germline

Chr17:61683825

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400479255

rs_1219988835

2 SubmittersRCV001967633 RCV005308620

NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp)

SNV
Germline

ChrX:14853149

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group B
FANCB-related disorder

Criteria Provided
Conflicting Classifications

CA412442686

rs_1364046604

4 SubmittersRCV001970490 RCV002272548 RCV003978448

NM_005236.3(ERCC4):c.2016C>T (p.Ala672=)

SNV
Germline

Chr16:13944834

Conflicting classifications of pathogenicity

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7910637

rs_775414253

2 SubmittersRCV002015265 RCV005242145

NM_021922.3(FANCE):c.786C>T (p.Gly262=)

SNV
Germline

Chr6:35456284

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E

Criteria Provided
Conflicting Classifications

CA3771476

rs_755421532

2 SubmittersRCV001991432

NM_001113378.2(FANCI):c.3927C>T (p.Gly1309=)

SNV
Germline

Chr15:89316399

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

CA492069189

rs_1275616370

2 SubmittersRCV001900314 RCV005005327

NM_032444.4(SLX4):c.383G>A (p.Trp128Ter)

SNV
Germline

Chr16:3608582

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394547343

rs_1193906930

1 SubmittersRCV001942290

NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter)

SNV
Germline

Chr16:23629804

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395124880

rs_1833331932

4 SubmittersRCV001970020 RCV003130638 RCV004044375

NM_032043.3(BRIP1):c.1674G>A (p.Trp558Ter)

SNV
Germline

Chr17:61780960

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400480495

rs_2145095898

2 SubmittersRCV001946621 RCV004603110

NM_000135.4(FANCA):c.3809C>A (p.Ser1270Ter)

SNV
Germline

Chr16:89740823

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA8250957

rs_752800577

1 SubmittersRCV001970064

NM_000135.4(FANCA):c.1777-2A>G

SNV
Germline

Chr16:89778852

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397454640

rs_2143422990

1 SubmittersRCV002025307

NM_000135.4(FANCA):c.522+2T>C

SNV
Germline

Chr16:89810705

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397480628

rs_2143677013

1 SubmittersRCV002025367

NM_020937.4(FANCM):c.4673-2A>C

SNV
Germline

Chr14:45187779

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389609695

rs_2139291763

1 SubmittersRCV002014022

NM_032043.3(BRIP1):c.1473+1G>C

SNV
Germline

Chr17:61793596

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482027

rs_748274524

2 SubmittersRCV002033098 RCV003336449

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
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10593866

rs_748674194

5 SubmittersRCV001885902 RCV002250779 RCV003159050 RCV005361784

NM_021922.3(FANCE):c.742G>A (p.Ala248Thr)

SNV
Germline

Chr6:35456240

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
Inborn genetic diseases
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA363773838

rs_1330517530

3 SubmittersRCV001901370 RCV002557563 RCV003154216

NM_032043.3(BRIP1):c.2292A>G (p.Lys764=)

SNV
Germline

Chr17:61743100

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501151123

rs_2144678763

2 SubmittersRCV001948525 RCV002442893

NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr17:61859811

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485676

rs_2145849937

2 SubmittersRCV001972820 RCV002407187

NM_020937.4(FANCM):c.2316+2T>A

SNV
Germline

Chr14:45173212

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389596921

rs_2139235421

1 SubmittersRCV002001234

NM_001018115.3(FANCD2):c.205+1G>A

SNV
Germline

Chr3:10032973

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351719119

rs_2124970985

1 SubmittersRCV002030604

NM_001018115.3(FANCD2):c.3106-13T>G

SNV
Germline

Chr3:10081333

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2250284

rs_759732362

3 SubmittersRCV002018439 RCV002486709 RCV003227060

NM_000135.4(FANCA):c.2689C>T (p.His897Tyr)

SNV
Germline

Chr16:89764979

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251593

rs_766402927

2 SubmittersRCV001898751 RCV005343124

NM_020937.4(FANCM):c.1213C>T (p.Arg405Ter)

SNV
Germline

Chr14:45154726

Pathogenic/Likely pathogenic

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA259616449

rs_1034818403

2 SubmittersRCV001949350 RCV002258344

NM_004629.2(FANCG):c.10C>T (p.Gln4Ter)

SNV
Germline

Chr9:35079515

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA373316083

rs_1326382443

2 SubmittersRCV001972738 RCV003464318

NM_000135.4(FANCA):c.1007-2A>G

SNV
Germline

Chr16:89792549

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397467138

rs_2040110878

2 SubmittersRCV002000789 RCV003471230

NM_032043.3(BRIP1):c.1629-1G>C

SNV
Germline

Chr17:61781006

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400480596

rs_1060501757

4 SubmittersRCV002026194 RCV003336499 RCV004603146

NM_000135.4(FANCA):c.3814C>T (p.His1272Tyr)

SNV
Germline

Chr16:89740818

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397485154

rs_2062114648

2 SubmittersRCV002018411 RCV005343268

NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile)

SNV
Germline

Chr3:10093312

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2250550

rs_138398760

6 SubmittersRCV001941486 RCV002484721 RCV002562821 RCV004591653

NM_032043.3(BRIP1):c.205+5G>A

SNV
Germline

Chr17:61859791

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2573154343

rs_2078948368

2 SubmittersRCV002019750 RCV005401904

NM_000135.4(FANCA):c.2222+1G>A

SNV
Germline

Chr16:89770563

Likely pathogenic

Fanconi anemia
FANCA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA286565330

rs_775388912

2 SubmittersRCV002019381 RCV003395342

NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val)

SNV
Germline

Chr14:45189088

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
Spermatogenic failure 28
Premature ovarian failure 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7169898

rs_759068569

5 SubmittersRCV001907574 RCV002548026 RCV002503414 RCV003478885

NM_058216.3(RAD51C):c.556A>T (p.Lys186Ter)

SNV
Germline

Chr17:58696844

Pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA400345405

rs_1363104728

1 SubmittersRCV001953507

NM_000136.3(FANCC):c.723C>A (p.Cys241Ter)

SNV
Germline

Chr9:95135466

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374109424

rs_2135167716

1 SubmittersRCV001947035

NM_020937.4(FANCM):c.4386+1G>A

SNV
Germline

Chr14:45181706

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389607399

rs_1889085249

1 SubmittersRCV002018194

NM_032444.4(SLX4):c.2161-2A>T

SNV
Germline

Chr16:3592867

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394525240

rs_2151127331

1 SubmittersRCV002046815

NM_032043.3(BRIP1):c.2568T>A (p.Tyr856Ter)

SNV
Germline

Chr17:61693437

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400482331

rs_370175724

1 SubmittersRCV001959201

NM_032444.4(SLX4):c.3724G>T (p.Glu1242Ter)

SNV
Germline

Chr16:3589914

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394519535

rs_770687847

1 SubmittersRCV001951483

NM_058216.3(RAD51C):c.1026+6T>A

SNV
Germline

Chr17:58732550

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA400365328

rs_2144046795

3 SubmittersRCV002008907 RCV003464362 RCV005414286

NM_001113378.2(FANCI):c.1113-1G>A

SNV
Germline

Chr15:89276710

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393741863

rs_2151485792

1 SubmittersRCV002029624

NM_001018115.3(FANCD2):c.3419T>G (p.Val1140Gly)

SNV
Germline

Chr3:10087217

Conflicting classifications of pathogenicity

Fanconi anemia
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA2250377

rs_781064333

2 SubmittersRCV001918357 RCV003154218

NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr)

SNV
Germline

Chr14:45199871

Conflicting classifications of pathogenicity

Fanconi anemia
Spermatogenic failure 28
Premature ovarian failure 15
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA389587926

rs_760258217

4 SubmittersRCV001941231 RCV002507619 RCV003375468 RCV003329423

NM_058216.3(RAD51C):c.343G>A (p.Val115Met)

SNV
Germline

Chr17:58695128

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400341440

rs_1202473484

2 SubmittersRCV002006508 RCV003375526

NM_001018115.3(FANCD2):c.696-1G>A

SNV
Germline

Chr3:10041622

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA70026020

rs_954555240

1 SubmittersRCV001883679

NM_000136.3(FANCC):c.250+1G>A

SNV
Germline

Chr9:95247431

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374339983

rs_2136090597

1 SubmittersRCV001975645

NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter)

SNV
Germline

ChrX:14850564

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA412442019

rs_2147404831

1 SubmittersRCV001910916

NM_020937.4(FANCM):c.4440A>G (p.Gln1480=)

SNV
Germline

Chr14:45183827

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA259634083

rs_567425336

2 SubmittersRCV001992630 RCV005232734

NM_000136.3(FANCC):c.1218G>C (p.Met406Ile)

SNV
Germline

Chr9:95111574

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137419

rs_766086120

2 SubmittersRCV001967511 RCV002361261

NM_000135.4(FANCA):c.3696T>G (p.Phe1232Leu)

SNV
Germline

Chr16:89742869

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251019

rs_563966600

4 SubmittersRCV002042033 RCV004998967 RCV005006097 RCV004980761

NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter)

SNV
Germline

Chr16:89752140

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397425895

rs_2143163267

2 SubmittersRCV002042193 RCV005014701

NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)

SNV
Germline

Chr16:89782878

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA8252229

rs_769047348

2 SubmittersRCV001944168 RCV003464258

NM_001113378.2(FANCI):c.2761C>T (p.Gln921Ter)

SNV
Germline

Chr15:89299924

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393737129

rs_1303324683

1 SubmittersRCV001944243

NM_058216.3(RAD51C):c.160A>T (p.Lys54Ter)

SNV
Germline

Chr17:58694945

Pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA400339600

rs_2047940709

1 SubmittersRCV001963273

NM_000135.4(FANCA):c.752C>G (p.Ser251Ter)

SNV
Germline

Chr16:89803299

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397476170

rs_878853666

1 SubmittersRCV001921935

NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu)

SNV
Germline

Chr16:89771703

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251900

rs_148203537

4 SubmittersRCV002305638 RCV001983248 RCV002492141

NM_000135.4(FANCA):c.2979A>G (p.Gln993=)

SNV
Germline

Chr16:89758579

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251415

rs_761577170

2 SubmittersRCV002023802 RCV003478924

NM_018062.4(FANCL):c.273+1G>C

SNV
Germline

Chr2:58226727

Conflicting classifications of pathogenicity

Fanconi anemia complementation group L
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA1670723

rs_144729980

3 SubmittersRCV002498060 RCV002023826

NM_032444.4(SLX4):c.2334C>T (p.Gly778=)

SNV
Germline

Chr16:3591304

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA493392249

rs_1235572029

2 SubmittersRCV002026684 RCV005008429

NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val)

SNV
Germline

Chr16:89740030

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397484968

rs_1232415717

3 SubmittersRCV001909978 RCV002291785 RCV005565005

NM_000135.4(FANCA):c.3121A>T (p.Thr1041Ser)

SNV
Germline

Chr16:89749848

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251324

rs_769635187

3 SubmittersRCV001974621 RCV005016891 RCV005565036

NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter)

SNV
Germline

Chr15:89273380

Pathogenic/Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA7722828

rs_754986558

3 SubmittersRCV003471060 RCV001914007

NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val)

SNV
Germline

Chr16:89739263

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8250805

rs_201886956

5 SubmittersRCV001979879 RCV003481210 RCV002507672

NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter)

SNV
Germline

Chr2:58161609

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA346933188

rs_1423411761

1 SubmittersRCV001983048

NM_032043.3(BRIP1):c.628-2A>G

SNV
Germline

Chr17:61808759

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485253

rs_995056553

2 SubmittersRCV001983409 RCV003336494

NM_032043.3(BRIP1):c.1141-2A>T

SNV
Germline

Chr17:61799301

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483841

rs_769583916

2 SubmittersRCV002021724 RCV003336502

NM_020937.4(FANCM):c.5476G>T (p.Glu1826Ter)

SNV
Germline

Chr14:45196307

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389585939

rs_1354153410

1 SubmittersRCV001916493

NM_020937.4(FANCM):c.1397-1G>T

SNV
Germline

Chr14:45159095

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389592354

rs_1887394029

1 SubmittersRCV001957067

NM_058216.3(RAD51C):c.904+2T>C

SNV
Germline

Chr17:58720814

Likely pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA400359861

rs_2143932427

1 SubmittersRCV001957079

NM_032043.3(BRIP1):c.1473+3A>T

SNV
Germline

Chr17:61793594

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2269176495

rs_2077852092

2 SubmittersRCV001959254 RCV004044556

NM_032043.3(BRIP1):c.1951A>G (p.Ile651Val)

SNV
Germline

Chr17:61776547

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8690617

rs_778867622

2 SubmittersRCV001954367 RCV004603112

NM_000135.4(FANCA):c.4031A>G (p.Glu1344Gly)

SNV
Germline

Chr16:89739269

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8250807

rs_778544563

4 SubmittersRCV001983460 RCV003478916 RCV004976092 RCV005008368

NM_000135.4(FANCA):c.3514-1G>T

SNV
Germline

Chr16:89745072

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397485799

rs_2143088468

1 SubmittersRCV002027339

NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro)

SNV
Germline

Chr16:89791458

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397463964

rs_1060501879

1 SubmittersRCV001980940

NM_032444.4(SLX4):c.1437A>G (p.Thr479=)

SNV
Germline

Chr16:3597625

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA276964549

rs_376641868

2 SubmittersRCV002145360 RCV005008467

NM_000135.4(FANCA):c.4108G>T (p.Ala1370Ser)

SNV
Germline

Chr16:89739192

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8250783

rs_750839091

4 SubmittersRCV003478928 RCV004976216 RCV005008448 RCV002174875

NM_058216.3(RAD51C):c.369T>A (p.Ile123=)

SNV
Germline

Chr17:58695154

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501074772

rs_2143726485

4 SubmittersRCV002196512 RCV003222399 RCV005424826 RCV004948653

NM_000135.4(FANCA):c.4137A>G (p.Pro1379=)

SNV
Germline

Chr16:89739163

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA497379269

rs_1172262659

3 SubmittersRCV002093256 RCV005333166 RCV004999638

NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser)

SNV
Germline

Chr16:89752196

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251380

rs_757175768

3 SubmittersRCV002097701 RCV005343329 RCV003154060

NM_020937.4(FANCM):c.4575T>C (p.Tyr1525=)

SNV
Germline

Chr14:45185276

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7169797

rs_756538862

3 SubmittersRCV002131956 RCV002246688 RCV005333208

NM_020937.4(FANCM):c.1310-13T>C

SNV
Germline

Chr14:45155360

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7169015

rs_749995672

2 SubmittersRCV003128794 RCV002170266

NM_001113378.2(FANCI):c.882+15G>T

SNV
Germline

Chr15:89268540

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

CA7722795

rs_199522855

2 SubmittersRCV002220918 RCV005008454

NM_000135.4(FANCA):c.1542C>T (p.Ala514=)

SNV
Germline

Chr16:89783031

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286579104

rs_962460972

3 SubmittersRCV002137529 RCV004973319 RCV004999649

NM_007294.4(BRCA1):c.548-14G>A

SNV
Germline

Chr17:43097303

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA626077256

rs_1451322222

3 SubmittersRCV002140523 RCV005251317 RCV005397330

NM_000136.3(FANCC):c.897-6G>A

SNV
Germline

Chr9:95125191

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA2573144808

rs_2134925431

2 SubmittersRCV002115271 RCV005370159

NM_001113378.2(FANCI):c.2292-6T>C

SNV
Germline

Chr15:89293827

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7723347

rs_772352819

2 SubmittersRCV002181333

NM_020937.4(FANCM):c.3747A>G (p.Thr1249=)

SNV
Germline

Chr14:45176501

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA259628497

rs_1017919543

2 SubmittersRCV002094066 RCV003154237

NM_001113378.2(FANCI):c.2890-13C>T

SNV
Germline

Chr15:89301313

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7723513

rs_377269890

2 SubmittersRCV002199108

NM_024675.4(PALB2):c.3456A>G (p.Pro1152=)

SNV
Germline

Chr16:23603564

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA494173610

rs_2142253411

3 SubmittersRCV002164567 RCV002454557 RCV005397333

NM_000135.4(FANCA):c.2014+12T>A

SNV
Germline

Chr16:89773259

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251959

rs_370998253

2 SubmittersRCV002143588 RCV002261456

NM_032444.4(SLX4):c.4962T>C (p.His1654=)

SNV
Germline

Chr16:3583288

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA493390603

rs_1407754407

2 SubmittersRCV002143744 RCV005017153

NM_000135.4(FANCA):c.793-11T>C

SNV
Germline

Chr16:89799649

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA286599878

rs_1030329914

2 SubmittersRCV002103991 RCV005055186

NM_000136.3(FANCC):c.1534-5T>C

SNV
Germline

Chr9:95101855

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2573144782

rs_730881727

2 SubmittersRCV002179760 RCV003161357

NM_000135.4(FANCA):c.2667C>T (p.Ala889=)

SNV
Germline

Chr16:89765001

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251599

rs_771425634

3 SubmittersRCV002193620 RCV004973354

NM_020937.4(FANCM):c.1071C>T (p.Ile357=)

SNV
Germline

Chr14:45153940

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7168929

rs_780333012

2 SubmittersRCV002107925 RCV004770408

NM_020937.4(FANCM):c.1812C>T (p.Asn604=)

SNV
Germline

Chr14:45166973

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7169165

rs_377473850

4 SubmittersRCV002184438 RCV002258393 RCV003151390 RCV004973357

NM_000135.4(FANCA):c.793-12C>G

SNV
Germline

Chr16:89799650

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8252776

rs_746312984

2 SubmittersRCV002117319

NM_000135.4(FANCA):c.3734A>G (p.Gln1245Arg)

SNV
Germline

Chr16:89742831

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251007

rs_542032916

2 SubmittersRCV002094835 RCV005343324

NM_000135.4(FANCA):c.2602-8T>C

SNV
Germline

Chr16:89765074

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8251626

rs_772897825

2 SubmittersRCV002216792

NM_000135.4(FANCA):c.1226-13G>C

SNV
Germline

Chr16:89791549

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8252441

rs_377159744

2 SubmittersRCV002120177

NM_032444.4(SLX4):c.4485G>A (p.Ala1495=)

SNV
Germline

Chr16:3589153

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7865623

rs_140872903

2 SubmittersRCV002090996

NM_032043.3(BRIP1):c.1559G>C (p.Ser520Thr)

SNV
Germline

Chr17:61784339

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690715

rs_757629526

3 SubmittersRCV002226323 RCV005308747 RCV005225570

NM_001018115.3(FANCD2):c.1656+3A>G

SNV
Germline

Chr3:10052500

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA1345036738

rs_2087247418

2 SubmittersRCV002226354 RCV005095782

NM_001018115.3(FANCD2):c.1764C>G (p.Asp588Glu)

SNV
Germline

Chr3:10060401

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2249774

rs_764832852

2 SubmittersRCV002226357 RCV005095783

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

CA2250577

rs_201623111

2 SubmittersRCV002226369 RCV003089211

NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)

SNV
Germline

Chr9:35079211

Pathogenic/Likely pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA373315735

rs_1384748892

4 SubmittersRCV002226565 RCV003523119

NM_032043.3(BRIP1):c.2576-3T>C

SNV
Germline

Chr17:61686168

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2573154266

rs_2144119000

3 SubmittersRCV002238665 RCV003774688 RCV004793748

NM_000136.3(FANCC):c.259C>T (p.Gln87Ter)

SNV
Germline

Chr9:95240735

Pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374339493

rs_2136049646

1 SubmittersRCV002249976

NM_001018115.3(FANCD2):c.1279-1G>A

SNV
Germline

Chr3:10047916

Pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351735596

rs_1294791314

1 SubmittersRCV002249977

NM_001018115.3(FANCD2):c.3777+1G>T

SNV
Germline

Chr3:10090386

Pathogenic

Fanconi anemia complementation group D2
FANCD2-related disorder

Criteria Provided
Single Submitter

CA351755503

rs_1434069831

2 SubmittersRCV002249978 RCV004731249

NM_020937.4(FANCM):c.2161-9A>T

SNV
Germline

Chr14:45173046

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7169276

rs_752101829

3 SubmittersRCV002251646 RCV003094096

NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter)

SNV
Germline

Chr3:10043562

Pathogenic/Likely pathogenic

See cases
Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351730848

rs_531943246

3 SubmittersRCV002252370 RCV003635983 RCV004572090

NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter)

SNV
Germline

Chr16:89764989

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA397438479

rs_2143288874

1 SubmittersRCV002254009

NM_000135.4(FANCA):c.1343A>G (p.Tyr448Cys)

SNV
Germline

Chr16:89791419

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

CA8252399

rs_769203048

1 SubmittersRCV002254010

NM_018062.4(FANCL):c.1A>G (p.Met1Val)

SNV
Germline

Chr2:58241313

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group L

Criteria Provided
Multiple Submitters
No Conflicts

CA347035227

rs_772037896

3 SubmittersRCV002256968 RCV005032201

NM_022725.4(FANCF):c.1A>C (p.Met1Leu)

SNV
Germline

Chr11:22625810

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA219086681

rs_1046564488

1 SubmittersRCV002255797

NM_022725.4(FANCF):c.1A>T (p.Met1Leu)

SNV
Germline

Chr11:22625810

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA380060192

rs_1046564488

1 SubmittersRCV002258415

NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)

SNV
Germline

Chr17:61793667

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482188

rs_2145242325

4 SubmittersRCV002257009 RCV003094197 RCV003336511

NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)

SNV
Germline

Chr17:61716060

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400479849

rs_2144384208

5 SubmittersRCV002257010 RCV003336512 RCV003329439 RCV003774762 RCV004017912

NM_032444.4(SLX4):c.2099G>A (p.Gly700Glu)

SNV
Germline

Chr16:3594514

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7866293

rs_373081094

2 SubmittersRCV002255814

NM_001018115.3(FANCD2):c.2004C>G (p.Ser668=)

SNV
Germline

Chr3:10064412

Conflicting classifications of pathogenicity

Fanconi anemia
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA2249915

rs_138189144

3 SubmittersRCV002258445 RCV003943329

NM_001018115.3(FANCD2):c.3285T>C (p.Ser1095=)

SNV
Germline

Chr3:10085872

Conflicting classifications of pathogenicity

Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

CA2250327

rs_759252565

3 SubmittersRCV002255828 RCV005433793

NM_058216.3(RAD51C):c.5G>A (p.Arg2His)

SNV
Germline

Chr17:58692648

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400336079

rs_2047797645

3 SubmittersRCV002257043 RCV003507403

NM_000135.4(FANCA):c.3349-11C>A

SNV
Germline

Chr16:89746901

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA624280316

rs_1190325114

2 SubmittersRCV002257103

NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu)

SNV
Germline

Chr16:89738675

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8250587

rs_769243354

3 SubmittersRCV002258494 RCV002488641

NM_001113378.2(FANCI):c.3059-11C>T

SNV
Germline

Chr15:89305104

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2194551311

rs_2054667046

2 SubmittersRCV002257257

NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)

SNV
Germline

Chr16:89773373

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397450387

rs_2143367693

2 SubmittersRCV002271829 RCV002307853

NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)

SNV
Germline

Chr16:3597621

Pathogenic/Likely pathogenic

Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA394529062

rs_1265030199

2 SubmittersRCV002271953

NM_032444.4(SLX4):c.2384C>G (p.Ser795Ter)

SNV
Germline

Chr16:3591254

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA394524037

rs_2151126006

3 SubmittersRCV002276393 RCV003096207

NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)

SNV
Germline

Chr16:89791410

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397463621

rs_2040072957

2 SubmittersRCV002282807 RCV003464430

NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)

SNV
Germline

Chr2:58226778

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group L

Criteria Provided
Multiple Submitters
No Conflicts

CA347034716

rs_1693048371

4 SubmittersRCV002282910 RCV003464431

NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)

SNV
Germline

Chr9:95171086

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374338553

rs_769998628

1 SubmittersRCV002281839

NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)

SNV
Germline

Chr3:10087135

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351751892

rs_2470039418

2 SubmittersRCV002283977

NM_000135.4(FANCA):c.1165G>T (p.Val389Leu)

SNV
Germline

Chr16:89791987

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397466165

rs_1402841866

1 SubmittersRCV002285083

NM_000135.4(FANCA):c.971T>C (p.Leu324Pro)

SNV
Germline

Chr16:89795941

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397469938

rs_1447363475

1 SubmittersRCV002286879

NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)

SNV
Germline

Chr16:89810988

Pathogenic

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA286608251

rs_985886242

3 SubmittersRCV002287060 RCV003097710 RCV003464436

NM_058216.3(RAD51C):c.131C>A (p.Ser44Tyr)

SNV
Germline

Chr17:58692774

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400337719

rs_2509262475

2 SubmittersRCV002303945 RCV004673664

NM_000136.3(FANCC):c.1542C>G (p.His514Gln)

SNV
Germline

Chr9:95101842

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374104837

rs_2540751147

2 SubmittersRCV002297046 RCV003365730

NM_032043.3(BRIP1):c.3341A>C (p.Gln1114Pro)

SNV
Germline

Chr17:61683705

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400478942

rs_1603275193

2 SubmittersRCV002302039 RCV005403200

NM_058216.3(RAD51C):c.13A>G (p.Thr5Ala)

SNV
Germline

Chr17:58692656

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400336151

rs_1314517659

2 SubmittersRCV002296066 RCV004945991

NM_000136.3(FANCC):c.822C>A (p.Cys274Ter)

SNV
Unknown

Chr9:95135367

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374109213

rs_2541398976

1 SubmittersRCV002306615

NM_000135.4(FANCA):c.301C>T (p.Gln101Ter)

SNV
Unknown

Chr16:89811054

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397481088

rs_140412064

1 SubmittersRCV002306662

NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)

SNV
Germline

Chr16:89752210

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA397426441

rs_758384536

4 SubmittersRCV002306708 RCV003395454

NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter)

SNV
Unknown

Chr16:89779930

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397456396

rs_1012809189

1 SubmittersRCV002309621

NM_000136.3(FANCC):c.1029C>G (p.Tyr343Ter)

SNV
Unknown

Chr9:95117358

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374108175

rs_2072504418

1 SubmittersRCV002309751

NM_000136.3(FANCC):c.249T>A (p.Tyr83Ter)

SNV
Unknown

Chr9:95247433

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374339989

rs_2542842484

1 SubmittersRCV002309778

NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter)

SNV
Unknown

Chr16:89775754

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397451811

rs_2544213738

1 SubmittersRCV002308219

NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)

SNV
Unknown

Chr16:89746619

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397485887

rs_1164540064

2 SubmittersRCV002309318

NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter)

SNV
Unknown

Chr16:89773313

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397449850

rs_2544207436

1 SubmittersRCV002309428

NM_000136.3(FANCC):c.225T>A (p.Cys75Ter)

SNV
Unknown

Chr9:95247457

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374340044

rs_2542842989

1 SubmittersRCV002306898

NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter)

SNV
Germline

Chr16:89791930

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397465904

rs_2544273183

2 SubmittersRCV005096135 RCV002310117

NM_032043.3(BRIP1):c.3536T>G (p.Val1179Gly)

SNV
Germline

Chr17:61683510

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400478366

rs_2144072645

2 SubmittersRCV002459444 RCV003099547

NM_000136.3(FANCC):c.406C>G (p.Gln136Glu)

SNV
Germline

Chr9:95172087

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374338798

rs_1407999116

3 SubmittersRCV002321450 RCV003523129 RCV004591893

NM_032043.3(BRIP1):c.3202C>T (p.Pro1068Ser)

SNV
Germline

Chr17:61683844

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400479331

rs_2061316510

2 SubmittersRCV002322996 RCV005213660

NM_032043.3(BRIP1):c.3528A>G (p.Ile1176Met)

SNV
Germline

Chr17:61683518

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400478405

rs_2544554358

2 SubmittersRCV002459371 RCV003775651

NM_032043.3(BRIP1):c.395C>A (p.Thr132Asn)

SNV
Germline

Chr17:61849241

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8690936

rs_753965650

2 SubmittersRCV003094458 RCV002357659

NM_032043.3(BRIP1):c.507G>C (p.Gln169His)

SNV
Germline

Chr17:61849129

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400484346

rs_876660937

3 SubmittersRCV002335884 RCV003454162 RCV005227628

NM_000136.3(FANCC):c.586G>T (p.Val196Phe)

SNV
Germline

Chr9:95150023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA5137686

rs_761766766

2 SubmittersRCV002353453 RCV005042814

NM_000136.3(FANCC):c.646C>T (p.Gln216Ter)

SNV
Germline

Chr9:95149963

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA374109595

rs_2135426817

2 SubmittersRCV002361942 RCV003098258

NM_032043.3(BRIP1):c.648G>A (p.Arg216=)

SNV
Germline

Chr17:61808737

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690867

rs_202035881

2 SubmittersRCV002356242 RCV003776270

NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)

SNV
Germline

Chr17:58709952

Pathogenic

Hereditary cancer-predisposing syndrome
Gastric cancer
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400354128

rs_2143853726

4 SubmittersRCV002419116 RCV003164539 RCV003507430 RCV004055352

NM_058216.3(RAD51C):c.875G>A (p.Arg292Lys)

SNV
Germline

Chr17:58720783

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400359615

rs_2143930978

3 SubmittersRCV002373587 RCV003100020 RCV003464497

NM_058216.3(RAD51C):c.785T>A (p.Leu262Ter)

SNV
Germline

Chr17:58709938

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA400353999

rs_2509313565

2 SubmittersRCV002412231 RCV003099762

NM_032043.3(BRIP1):c.945A>G (p.Gly315=)

SNV
Germline

Chr17:61801448

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501151985

rs_2145341765

2 SubmittersRCV002374032 RCV003103587

NM_058216.3(RAD51C):c.892G>A (p.Val298Ile)

SNV
Germline

Chr17:58720800

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400359759

rs_1555602145

3 SubmittersRCV002376151 RCV003100056 RCV003314040

NM_000136.3(FANCC):c.1423A>C (p.Thr475Pro)

SNV
Germline

Chr9:95107176

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA374106014

rs_2540809415

3 SubmittersRCV002391862 RCV005001310 RCV005397412

NM_032043.3(BRIP1):c.1744C>T (p.Gln582Ter)

SNV
Germline

Chr17:61780890

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400480345

rs_2145092515

3 SubmittersRCV002401455 RCV003336717 RCV005227735

NM_058216.3(RAD51C):c.981C>G (p.Tyr327Ter)

SNV
Germline

Chr17:58732499

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA400364904

rs_2144044910

2 SubmittersRCV002376828 RCV003094879

NM_032043.3(BRIP1):c.1473+3A>G

SNV
Germline

Chr17:61793594

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA2580094509

rs_2077852092

3 SubmittersRCV002396963 RCV003095207 RCV005055195

NM_032043.3(BRIP1):c.1629-4C>A

SNV
Germline

Chr17:61781009

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690694

rs_747704211

4 SubmittersRCV003097031 RCV002401206 RCV003492763

NM_058216.3(RAD51C):c.1048G>C (p.Val350Leu)

SNV
Germline

Chr17:58734139

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400366019

rs_1473651696

2 SubmittersRCV002398690 RCV003100743

NM_000136.3(FANCC):c.167A>G (p.Asp56Gly)

SNV
Germline

Chr9:95247515

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA374340167

rs_759662786

3 SubmittersRCV002414526 RCV004774684 RCV005042826

NM_032043.3(BRIP1):c.1965C>T (p.Pro655=)

SNV
Germline

Chr17:61776533

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501150202

rs_2145032993

2 SubmittersRCV002423381 RCV005209585

NM_058216.3(RAD51C):c.1072C>T (p.Gln358Ter)

SNV
Germline

Chr17:58734163

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400366239

rs_2049563238

2 SubmittersRCV002423722 RCV003618019

NM_032043.3(BRIP1):c.2379+4G>A

SNV
Germline

Chr17:61743009

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292268881

rs_980793349

3 SubmittersRCV002457847 RCV003101773 RCV004790201

NM_007294.4(BRCA1):c.2623C>G (p.Pro875Ala)

SNV
Germline

Chr17:43092908

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10596748

rs_866257451

3 SubmittersRCV002426419 RCV005356132

NM_032043.3(BRIP1):c.1897A>G (p.Ile633Val)

SNV
Germline

Chr17:61780299

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690638

rs_765314472

2 SubmittersRCV002408132 RCV005215898

NM_058216.3(RAD51C):c.1076C>T (p.Thr359Ile)

SNV
Germline

Chr17:58734167

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA292074358

rs_895514056

3 SubmittersRCV002419949 RCV003507452

NM_058216.3(RAD51C):c.10A>C (p.Lys4Gln)

SNV
Germline

Chr17:58692653

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400336117

rs_2047798556

2 SubmittersRCV002455594 RCV003101864

NM_058216.3(RAD51C):c.10A>G (p.Lys4Glu)

SNV
Germline

Chr17:58692653

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400336124

rs_2047798556

2 SubmittersRCV002443951 RCV003618034

NM_032043.3(BRIP1):c.1931C>A (p.Ser644Ter)

SNV
Germline

Chr17:61780265

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400479160

rs_2145074473

3 SubmittersRCV002410925 RCV003336720 RCV005215900

NM_058216.3(RAD51C):c.1075A>G (p.Thr359Ala)

SNV
Germline

Chr17:58734166

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400366268

rs_1368752573

2 SubmittersRCV002419623 RCV003507451

NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)

SNV
Germline

Chr17:61716000

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400479597

rs_2144381202

3 SubmittersRCV003101824 RCV002455371 RCV003336736

NM_032043.3(BRIP1):c.2575+1G>C

SNV
Germline

Chr17:61693429

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482299

rs_1567737536

2 SubmittersRCV002426033 RCV003775302

NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)

SNV
Germline

Chr17:61685952

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400481529

rs_2144111205

4 SubmittersRCV002441381 RCV003102216 RCV003336746

NM_032043.3(BRIP1):c.2905+3A>T

SNV
Germline

Chr17:61685833

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400481076

rs_1555573247

2 SubmittersRCV002439744 RCV003775416

NM_032043.3(BRIP1):c.2981A>G (p.Asn994Ser)

SNV
Germline

Chr17:61684065

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400480614

rs_2144092407

2 SubmittersRCV002442219 RCV005227773

NM_032043.3(BRIP1):c.1585G>T (p.Gly529Ter)

SNV
Germline

Chr17:61784313

Pathogenic

Familial cancer of breast
Gastric cancer
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400481048

rs_876659321

3 SubmittersRCV003336760 RCV003164705 RCV005227780

NM_007294.4(BRCA1):c.3716C>T (p.Ser1239Phe)

SNV
Germline

Chr17:43091815

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10594533

rs_2154292840

3 SubmittersRCV002481125 RCV003157205 RCV005356141

NM_000136.3(FANCC):c.457-4A>G

SNV
Germline

Chr9:95171147

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2580080686

rs_2541932405

2 SubmittersRCV002481136 RCV003635992

NM_004629.2(FANCG):c.1481-16T>C

SNV
Germline

Chr9:35075098

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Conflicting Classifications

CA2580080400

rs_763292105

2 SubmittersRCV003041424 RCV005045202

NM_000135.4(FANCA):c.190-2A>G

SNV
Germline

Chr16:89814615

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397482668

rs_183350210

1 SubmittersRCV003064370

NM_000135.4(FANCA):c.2424T>C (p.Pro808=)

SNV
Germline

Chr16:89769917

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA497379550

rs_2544195835

3 SubmittersRCV003073883 RCV003477040 RCV005567375

NM_000135.4(FANCA):c.1566+2C>G

SNV
Germline

Chr16:89783005

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397458042

rs_1316950815

1 SubmittersRCV003051329

NM_020937.4(FANCM):c.448C>T (p.Gln150Ter)

SNV
Germline

Chr14:45136479

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389588306

rs_2139103778

1 SubmittersRCV003062629

NM_000135.4(FANCA):c.284-2A>C

SNV
Germline

Chr16:89811073

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA8253074

rs_756023006

2 SubmittersRCV003051001 RCV003340603

NM_000135.4(FANCA):c.3631C>T (p.Leu1211Phe)

SNV
Germline

Chr16:89742934

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251040

rs_140143192

3 SubmittersRCV003067015 RCV005010940 RCV005335619

NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)

SNV
Germline

Chr9:95240718

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA374339431

rs_2542756480

2 SubmittersRCV003465918 RCV003037328

NM_001018115.3(FANCD2):c.1656+1G>A

SNV
Germline

Chr3:10052498

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA2249734

rs_748688174

1 SubmittersRCV003066428

NM_000135.4(FANCA):c.2152-1G>A

SNV
Germline

Chr16:89770635

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397447442

rs_2143340252

1 SubmittersRCV003087650

NM_000135.4(FANCA):c.3421G>A (p.Ala1141Thr)

SNV
Germline

Chr16:89746676

Conflicting classifications of pathogenicity

Inborn genetic diseases
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8251157

rs_547984666

2 SubmittersRCV003075260 RCV003075261

NM_020937.4(FANCM):c.2140C>G (p.Gln714Glu)

SNV
Germline

Chr14:45170726

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA389596338

rs_1291848804

2 SubmittersRCV003072724 RCV004700938

NM_000135.4(FANCA):c.3409-2A>G

SNV
Germline

Chr16:89746690

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397486029

rs_2143107119

2 SubmittersRCV003072414 RCV003459740

NM_058216.3(RAD51C):c.702A>G (p.Ser234=)

SNV
Germline

Chr17:58703326

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501075286

rs_2143802342

2 SubmittersRCV003070344 RCV004999869

NM_001113378.2(FANCI):c.3193G>A (p.Glu1065Lys)

SNV
Germline

Chr15:89305347

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7723638

rs_752465579

2 SubmittersRCV002581922 RCV004978613

NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)

SNV
Germline

Chr15:89294925

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA393750608

rs_1173818227

2 SubmittersRCV003082977 RCV003459747

NM_001113378.2(FANCI):c.3652-1G>T

SNV
Germline

Chr15:89312903

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393742582

rs_2055026560

1 SubmittersRCV003095721

NM_000135.4(FANCA):c.1454C>A (p.Ser485Tyr)

SNV
Germline

Chr16:89784870

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252335

rs_760790832

3 SubmittersRCV003092454 RCV005021549 RCV005335659

NM_000135.4(FANCA):c.1076A>G (p.Tyr359Cys)

SNV
Germline

Chr16:89792478

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252544

rs_776751315

2 SubmittersRCV002596009 RCV005335693

NM_000135.4(FANCA):c.2828C>T (p.Ala943Val)

SNV
Germline

Chr16:89761973

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251489

rs_779851064

2 SubmittersRCV002596014 RCV002610696

NM_000135.4(FANCA):c.1618A>G (p.Ile540Val)

SNV
Germline

Chr16:89782867

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397457927

rs_2544242608

2 SubmittersRCV002616449 RCV005567433

NM_001018115.3(FANCD2):c.3467-2A>G

SNV
Germline

Chr3:10088447

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA70030350

rs_866731784

2 SubmittersRCV002614801 RCV004572787

NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)

SNV
Germline

Chr16:13930789

Pathogenic

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

CA278466697

rs_900093826

1 SubmittersRCV002595685

NM_032043.3(BRIP1):c.3320T>C (p.Leu1107Pro)

SNV
Germline

Chr17:61683726

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400478987

rs_2144080241

2 SubmittersRCV002620180 RCV004070490

NM_020937.4(FANCM):c.2260C>T (p.Arg754Ter)

SNV
Germline

Chr14:45173154

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7169301

rs_778176467

2 SubmittersRCV002595280 RCV003318742

NM_000135.4(FANCA):c.596+1G>A

SNV
Germline

Chr16:89808293

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397479106

rs_2143656696

1 SubmittersRCV002615091

NM_000135.4(FANCA):c.617T>C (p.Val206Ala)

SNV
Germline

Chr16:89805372

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252876

rs_756140322

3 SubmittersRCV002599060 RCV003477049 RCV005333520

NM_020937.4(FANCM):c.4930C>T (p.Arg1644Ter)

SNV
Germline

Chr14:45188952

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389611573

rs_930692973

1 SubmittersRCV002607696

NM_000135.4(FANCA):c.1126C>T (p.Gln376Ter)

SNV
Germline

Chr16:89792026

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397466247

rs_2040093330

1 SubmittersRCV002628881

NM_020937.4(FANCM):c.901C>T (p.Gln301Ter)

SNV
Germline

Chr14:45148978

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389590237

rs_2503085082

1 SubmittersRCV002629996

NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)

SNV
Germline

Chr15:89295093

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA274577754

rs_1013628944

3 SubmittersRCV002633065 RCV003465984

NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter)

SNV
Germline

Chr16:89739512

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397484803

rs_764620351

1 SubmittersRCV002647205

NM_020937.4(FANCM):c.5269C>T (p.Gln1757Ter)

SNV
Germline

Chr14:45189291

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389613156

rs_2503246700

1 SubmittersRCV002624544

NM_000135.4(FANCA):c.3754G>T (p.Glu1252Ter)

SNV
Germline

Chr16:89742811

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397485295

rs_766875357

1 SubmittersRCV002663942

NM_032444.4(SLX4):c.4523C>A (p.Ser1508Ter)

SNV
Germline

Chr16:3589115

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA7865613

rs_112694849

1 SubmittersRCV003112593

NM_018062.4(FANCL):c.97-7T>C

SNV
Germline

Chr2:58232119

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1670797

rs_551828597

2 SubmittersRCV003110662 RCV003329472

NM_020937.4(FANCM):c.1123C>T (p.Gln375Ter)

SNV
Germline

Chr14:45153992

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389590935

rs_1486766153

1 SubmittersRCV003121287

NM_000135.4(FANCA):c.97G>T (p.Glu33Ter)

SNV
Germline

Chr16:89815969

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397483696

rs_2041101017

3 SubmittersRCV003108462 RCV004572846

NM_018062.4(FANCL):c.369G>A (p.Trp123Ter)

SNV
Germline

Chr2:58221947

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347034384

rs_1386476396

1 SubmittersRCV003117124

NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)

SNV
Germline

Chr17:61784316

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA292283055

rs_748962730

3 SubmittersRCV003140250 RCV003117214 RCV003336815

NM_020937.4(FANCM):c.52C>T (p.Arg18Ter)

SNV
Germline

Chr14:45136083

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389586768

rs_1323969534

1 SubmittersRCV002578307

NM_032043.3(BRIP1):c.2492+2T>C

SNV
Germline

Chr17:61715949

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400479372

rs_1409603424

2 SubmittersRCV002569765 RCV005403222

NM_000135.4(FANCA):c.3601C>T (p.Gln1201Ter)

SNV
Germline

Chr16:89744984

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397485620

rs_2544113674

1 SubmittersRCV002575909

NM_020937.4(FANCM):c.4054A>T (p.Lys1352Ter)

SNV
Germline

Chr14:45176808

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389604108

rs_1888737946

1 SubmittersRCV002579847

NM_000135.4(FANCA):c.3295C>T (p.Gln1099Ter)

SNV
Germline

Chr16:89748712

Pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8251240

rs_746176365

2 SubmittersRCV002575617 RCV004721081

NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)

SNV
Germline

Chr16:89815879

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397483198

rs_1282690126

2 SubmittersRCV002583539 RCV003465785

NM_000135.4(FANCA):c.1777-17C>G

SNV
Germline

Chr16:89778867

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA725724101

rs_1468919595

2 SubmittersRCV002588953 RCV005019247

NM_000135.4(FANCA):c.2605C>G (p.Gln869Glu)

SNV
Germline

Chr16:89765063

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397438939

rs_1286812517

1 SubmittersRCV002584081

NM_020937.4(FANCM):c.2050G>T (p.Glu684Ter)

SNV
Germline

Chr14:45170636

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389595947

rs_1888277669

1 SubmittersRCV002589414

NM_000135.4(FANCA):c.3418A>T (p.Asn1140Tyr)

SNV
Germline

Chr16:89746679

Conflicting classifications of pathogenicity

Fanconi anemia
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA8251159

rs_774278686

2 SubmittersRCV002608634 RCV003154072

NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)

SNV
Germline

Chr9:35079205

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA373315716

rs_2131059848

2 SubmittersRCV002601496 RCV003464571

NM_032444.4(SLX4):c.2002G>A (p.Gly668Ser)

SNV
Germline

Chr16:3595616

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA276961962

rs_970090954

2 SubmittersRCV002600584 RCV005281184

NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)

SNV
Germline

Chr17:61793599

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482033

rs_2545105477

3 SubmittersRCV002592967 RCV003336770

NM_032043.3(BRIP1):c.507+16T>C

SNV
Germline

Chr17:61849113

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2576345224

rs_2145760739

2 SubmittersRCV002593558 RCV004017942

NM_000135.4(FANCA):c.3293A>G (p.Glu1098Gly)

SNV
Germline

Chr16:89748714

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251241

rs_772633264

2 SubmittersRCV002605263 RCV005008665

NM_058216.3(RAD51C):c.904+4G>A

SNV
Germline

Chr17:58720816

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA2542485032

rs_2048894318

4 SubmittersRCV002626163 RCV003308188 RCV005424964

NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)

SNV
Germline

Chr17:61801454

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400484283

rs_1436085018

2 SubmittersRCV002610005 RCV003336772

NM_000135.4(FANCA):c.2977C>T (p.Gln993Ter)

SNV
Germline

Chr16:89758581

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA8251417

rs_140823801

1 SubmittersRCV002635377

NM_000136.3(FANCC):c.1072+2T>A

SNV
Germline

Chr9:95117313

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

CA374108084

rs_1254639941

2 SubmittersRCV002636417 RCV004571198

NM_032444.4(SLX4):c.1552C>T (p.Gln518Ter)

SNV
Germline

Chr16:3597510

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394528829

rs_2548218922

1 SubmittersRCV002634994

NM_032444.4(SLX4):c.1912G>T (p.Glu638Ter)

SNV
Germline

Chr16:3596165

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394526918

rs_2548217715

1 SubmittersRCV002623088

NM_000136.3(FANCC):c.576C>G (p.Thr192=)

SNV
Germline

Chr9:95150033

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA466103257

rs_759392396

2 SubmittersRCV002643399 RCV004066757

NM_001113378.2(FANCI):c.882+2T>C

SNV
Germline

Chr15:89268527

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393740371

rs_2053066295

1 SubmittersRCV002666703

NM_004629.2(FANCG):c.1434-1G>C

SNV
Germline

Chr9:35075326

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373306160

rs_1829062032

1 SubmittersRCV002649954

NM_032444.4(SLX4):c.3529G>T (p.Glu1177Ter)

SNV
Germline

Chr16:3590109

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394519936

rs_2151123420

1 SubmittersRCV002725517

NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter)

SNV
Germline

Chr16:89740022

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397484954

rs_2544088087

1 SubmittersRCV002736642

NM_000135.4(FANCA):c.2709G>A (p.Trp903Ter)

SNV
Germline

Chr16:89764959

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397438220

rs_2143288626

1 SubmittersRCV002730606

NM_000135.4(FANCA):c.1867C>T (p.Gln623Ter)

SNV
Germline

Chr16:89775775

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397451900

rs_2544213873

1 SubmittersRCV002736130

NM_000135.4(FANCA):c.3477C>A (p.Cys1159Ter)

SNV
Germline

Chr16:89746620

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397485891

rs_2143106071

1 SubmittersRCV002760340

NM_000135.4(FANCA):c.426+2T>C

SNV
Germline

Chr16:89810927

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397480847

rs_1598190568

2 SubmittersRCV002745908 RCV005008725

NM_032444.4(SLX4):c.4435C>T (p.Arg1479Ter)

SNV
Germline

Chr16:3589203

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA7865639

rs_758409623

1 SubmittersRCV002780418

NM_032444.4(SLX4):c.1684-1G>A

SNV
Germline

Chr16:3596394

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Multiple Submitters
No Conflicts

CA394527893

rs_1294650594

2 SubmittersRCV002785665 RCV004571248

NM_000135.4(FANCA):c.1225+2T>A

SNV
Germline

Chr16:89791925

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA8252476

rs_746514288

1 SubmittersRCV002805380

NM_058216.3(RAD51C):c.1030C>T (p.Gln344Ter)

SNV
Germline

Chr17:58734121

Likely pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA400365829

rs_2144060112

1 SubmittersRCV002770456

NM_018062.4(FANCL):c.1A>C (p.Met1Leu)

SNV
Germline

Chr2:58241313

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347035228

rs_772037896

1 SubmittersRCV002790386

NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)

SNV
Germline

Chr17:61859883

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485835

rs_2145852357

2 SubmittersRCV002791583 RCV003167794

NM_032444.4(SLX4):c.4850C>G (p.Ser1617Ter)

SNV
Germline

Chr16:3583400

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394515241

rs_2548207397

1 SubmittersRCV002820239

NM_020937.4(FANCM):c.3238C>T (p.Leu1080Phe)

SNV
Germline

Chr14:45175992

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA389600513

rs_1888662319

2 SubmittersRCV002806828 RCV005343500

NM_020937.4(FANCM):c.4294G>T (p.Gly1432Ter)

SNV
Germline

Chr14:45181501

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389607172

rs_2503213449

1 SubmittersRCV002797232

NM_000135.4(FANCA):c.893+1G>C

SNV
Germline

Chr16:89799165

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397472730

rs_2040352832

1 SubmittersRCV002801814

NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)

SNV
Germline

Chr17:61716054

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400479827

rs_2544698078

1 SubmittersRCV002842295

NM_001113378.2(FANCI):c.1179T>A (p.Tyr393Ter)

SNV
Germline

Chr15:89276777

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393742131

rs_3743377

1 SubmittersRCV002846971

NM_001113378.2(FANCI):c.1051C>T (p.Gln351Ter)

SNV
Germline

Chr15:89274243

Pathogenic/Likely pathogenic

FANCI-related disorder
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA393741661

rs_1222323889

2 SubmittersRCV003403931 RCV002846205

NM_032043.3(BRIP1):c.543C>A (p.His181Gln)

SNV
Germline

Chr17:61847185

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400483212

rs_1285947952

2 SubmittersRCV002830014 RCV005535431

NM_032043.3(BRIP1):c.3005G>A (p.Trp1002Ter)

SNV
Germline

Chr17:61684041

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA8690412

rs_753664225

2 SubmittersRCV002851589 RCV005601956

NM_000136.3(FANCC):c.1330-2A>G

SNV
Germline

Chr9:95107271

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374106303

rs_2134456820

1 SubmittersRCV002857090

NM_032444.4(SLX4):c.1255G>T (p.Glu419Ter)

SNV
Germline

Chr16:3597908

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394529624

rs_941244697

1 SubmittersRCV002866189

NM_000136.3(FANCC):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr9:95117327

Pathogenic

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374108113

rs_2540991022

2 SubmittersRCV002867046 RCV003308311

NM_032444.4(SLX4):c.1816C>T (p.Gln606Ter)

SNV
Germline

Chr16:3596261

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394527332

rs_1264895281

1 SubmittersRCV002857252

NM_018062.4(FANCL):c.541-2A>C

SNV
Germline

Chr2:58165876

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA346938203

rs_2466659020

1 SubmittersRCV002871725

NM_032043.3(BRIP1):c.3028C>T (p.Gln1010Ter)

SNV
Germline

Chr17:61684018

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400479961

rs_2144090799

1 SubmittersRCV002866558

NM_001018115.3(FANCD2):c.3103C>T (p.Gln1035Ter)

SNV
Germline

Chr3:10081226

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351748092

rs_2125059701

1 SubmittersRCV002889459

NM_004629.2(FANCG):c.643C>T (p.Gln215Ter)

SNV
Germline

Chr9:35077267

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373313871

rs_2490404395

1 SubmittersRCV002871965

NM_000135.4(FANCA):c.464T>A (p.Leu155Ter)

SNV
Germline

Chr16:89810765

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397480764

rs_2544362522

1 SubmittersRCV002872067

NM_032043.3(BRIP1):c.314C>A (p.Ser105Ter)

SNV
Germline

Chr17:61857123

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400485389

rs_1555617829

1 SubmittersRCV002876952

NM_000135.4(FANCA):c.710-1G>T

SNV
Germline

Chr16:89803342

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397476539

rs_1388128874

1 SubmittersRCV002865974

NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)

SNV
Germline

Chr17:61686034

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400481697

rs_1603276837

3 SubmittersRCV002852365 RCV003308306 RCV003336777

NM_020937.4(FANCM):c.4318-2A>G

SNV
Germline

Chr14:45181635

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389607247

rs_1313143328

1 SubmittersRCV002857859

NM_032043.3(BRIP1):c.1673G>A (p.Trp558Ter)

SNV
Germline

Chr17:61780961

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400480498

rs_2145095957

2 SubmittersRCV002876142 RCV005621221

NM_058216.3(RAD51C):c.48T>C (p.Ser16=)

SNV
Germline

Chr17:58692691

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677130

rs_766058636

3 SubmittersRCV002847888 RCV003477024 RCV005421438

NM_001113378.2(FANCI):c.85-2A>G

SNV
Germline

Chr15:89258702

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA7722490

rs_138313760

1 SubmittersRCV002889276

NM_032043.3(BRIP1):c.919-1G>A

SNV
Germline

Chr17:61801475

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400484335

rs_2145343116

1 SubmittersRCV002866925

NM_004629.2(FANCG):c.1520C>T (p.Ala507Val)

SNV
Germline

Chr9:35075043

Conflicting classifications of pathogenicity

Inborn genetic diseases
Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Conflicting Classifications

CA5039707

rs_138395184

3 SubmittersRCV002900021 RCV002900022 RCV005045032

NM_000135.4(FANCA):c.3392C>A (p.Thr1131Asn)

SNV
Germline

Chr16:89746847

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397486076

rs_2143109078

1 SubmittersRCV002886037

NM_001018115.3(FANCD2):c.2102C>T (p.Pro701Leu)

SNV
Germline

Chr3:10064809

Conflicting classifications of pathogenicity

Fanconi anemia
Ovarian cancer
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA351733364

rs_1352402588

3 SubmittersRCV002891140 RCV003154263 RCV005034459

NM_001018115.3(FANCD2):c.3560+1G>A

SNV
Germline

Chr3:10088543

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA70030497

rs_1007481549

3 SubmittersRCV002903032 RCV003464634

NM_000135.4(FANCA):c.4285G>T (p.Asp1429Tyr)

SNV
Germline

Chr16:89738684

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397483114

rs_748856769

1 SubmittersRCV002895821

NM_000135.4(FANCA):c.368A>G (p.Gln123Arg)

SNV
Germline

Chr16:89810987

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA286608249

rs_988689175

2 SubmittersRCV002899974 RCV005565318

NM_000135.4(FANCA):c.3431G>A (p.Arg1144Gln)

SNV
Germline

Chr16:89746666

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8251152

rs_138112218

3 SubmittersRCV002912838 RCV003477026 RCV005010759

NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)

SNV
Germline

Chr17:61808579

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400484874

rs_1412610651

3 SubmittersRCV002903845 RCV003336782

NM_032444.4(SLX4):c.1684-2A>C

SNV
Germline

Chr16:3596395

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394527896

rs_2151130294

1 SubmittersRCV002872733

NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)

SNV
Germline

Chr17:61847217

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA400483454

rs_2545407876

3 SubmittersRCV002872779 RCV003382957 RCV004786761

NM_000135.4(FANCA):c.3733C>T (p.Gln1245Ter)

SNV
Germline

Chr16:89742832

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397485338

rs_745665658

1 SubmittersRCV002890069

NM_001113378.2(FANCI):c.504-2A>G

SNV
Germline

Chr15:89263417

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393738682

rs_2505951722

1 SubmittersRCV002882066

NM_000135.4(FANCA):c.644G>A (p.Cys215Tyr)

SNV
Germline

Chr16:89805345

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252871

rs_555784791

2 SubmittersRCV002894904 RCV005333367

NM_000135.4(FANCA):c.2960C>T (p.Ala987Val)

SNV
Germline

Chr16:89758598

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251421

rs_767606917

2 SubmittersRCV002914687 RCV002923000

NM_032444.4(SLX4):c.2013+2T>C

SNV
Germline

Chr16:3595603

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394526460

rs_2040642702

1 SubmittersRCV002937634

NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter)

SNV
Germline

Chr14:45175842

Pathogenic/Likely pathogenic

Fanconi anemia
Premature ovarian failure 15
Condition: not provided
FANCM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7169463

rs_759378949

4 SubmittersRCV002937698 RCV004595677 RCV004721092 RCV004725418

NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter)

SNV
Germline

Chr16:89752220

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA8251385

rs_746997654

1 SubmittersRCV002932892

NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)

SNV
Germline

Chr17:61744566

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483294

rs_2144700629

2 SubmittersRCV002947425 RCV003336783

NM_004629.2(FANCG):c.572T>C (p.Leu191Ser)

SNV
Germline

Chr9:35077338

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5040007

rs_755361015

2 SubmittersRCV002923389 RCV005565337

NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)

SNV
Germline

Chr15:89261645

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA393738281

rs_548947826

2 SubmittersRCV002944151 RCV003465879

NM_018062.4(FANCL):c.1093-11T>A

SNV
Germline

Chr2:58159811

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group L

Criteria Provided
Conflicting Classifications

CA1670297

rs_774130469

2 SubmittersRCV002971788 RCV005028079

NM_000136.3(FANCC):c.532G>T (p.Glu178Ter)

SNV
Germline

Chr9:95150077

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374109875

rs_554302947

1 SubmittersRCV002982364

NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)

SNV
Germline

Chr16:89810724

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252989

rs_372691338

3 SubmittersRCV003477029 RCV002942541 RCV003146690

NM_020937.4(FANCM):c.438G>A (p.Leu146=)

SNV
Germline

Chr14:45136469

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA486346175

rs_1885517210

3 SubmittersRCV002953807 RCV004999842 RCV005343544

NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)

SNV
Germline

Chr16:89745066

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397485787

rs_758341181

2 SubmittersRCV002966933 RCV004572480

NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)

SNV
Germline

Chr15:89305240

Pathogenic

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA274525357

rs_995746723

2 SubmittersRCV002953467 RCV003465873

NM_020937.4(FANCM):c.3136C>T (p.Gln1046Ter)

SNV
Germline

Chr14:45175890

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA7169472

rs_755309416

1 SubmittersRCV002949008

NM_001018113.3(FANCB):c.41G>A (p.Arg14Lys)

SNV
Germline

ChrX:14865470

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases
Fanconi anemia complementation group B

Criteria Provided
Conflicting Classifications

CA10353238

rs_753239814

3 SubmittersRCV002967325 RCV004068318 RCV005045120

NM_058216.3(RAD51C):c.571+2863A>G

SNV
Germline

Chr17:58699722

Likely pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA773574964

rs_1455096561

1 SubmittersRCV002967710

NM_000135.4(FANCA):c.3233A>G (p.Tyr1078Cys)

SNV
Germline

Chr16:89749736

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397486431

rs_1285387383

2 SubmittersRCV002967713 RCV003250671

NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)

SNV
Germline

Chr17:61693489

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400482456

rs_2144187284

4 SubmittersRCV002994665 RCV003138434 RCV005403260

NM_021922.3(FANCE):c.856-11C>T

SNV
Germline

Chr6:35457545

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E

Criteria Provided
Conflicting Classifications

CA1620906162

rs_756018135

2 SubmittersRCV003009232

NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)

SNV
Germline

Chr3:10085876

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351751334

rs_2125069514

2 SubmittersRCV002998835 RCV004572505

NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)

SNV
Germline

Chr9:35075285

Pathogenic

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA192692677

rs_1018027137

2 SubmittersRCV002982995 RCV003465884

NM_058216.3(RAD51C):c.405T>G (p.Cys135Trp)

SNV
Germline

Chr17:58696693

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400343658

rs_537272666

2 SubmittersRCV002999827 RCV005248900

NM_004629.2(FANCG):c.308-1G>A

SNV
Germline

Chr9:35078344

Likely pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA373314673

rs_1441100300

2 SubmittersRCV003459702 RCV003026163

NM_000135.4(FANCA):c.792+1G>C

SNV
Germline

Chr16:89803258

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397475820

rs_2143615250

2 SubmittersRCV003033612 RCV003459701

NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)

SNV
Germline

Chr17:61857061

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485268

rs_2145825942

2 SubmittersRCV003022840 RCV003336792

NM_004629.2(FANCG):c.1144-2A>G

SNV
Germline

Chr9:35075756

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373309790

rs_2490398544

1 SubmittersRCV003000166

NM_058216.3(RAD51C):c.484G>T (p.Gly162Ter)

SNV
Germline

Chr17:58696772

Pathogenic

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400344764

rs_2143746667

2 SubmittersRCV003000180 RCV004068519

NM_058216.3(RAD51C):c.965+6T>A

SNV
Germline

Chr17:58724106

Likely pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA2580094307

rs_2143963488

1 SubmittersRCV003034351

NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter)

SNV
Germline

Chr17:61686076

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400481827

rs_2061359296

1 SubmittersRCV003029703

NM_032043.3(BRIP1):c.645T>G (p.Ser215=)

SNV
Germline

Chr17:61808740

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501335360

rs_2145423071

2 SubmittersRCV003023551 RCV004786794

NM_000135.4(FANCA):c.4168-1G>A

SNV
Germline

Chr16:89738975

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397483858

rs_2062047006

1 SubmittersRCV003017434

NM_000135.4(FANCA):c.3349-1G>C

SNV
Germline

Chr16:89746891

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397486168

rs_769862233

1 SubmittersRCV003034449

NM_021922.3(FANCE):c.396G>A (p.Trp132Ter)

SNV
Germline

Chr6:35455894

Pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363772827

rs_866005940

1 SubmittersRCV003025051

NM_000135.4(FANCA):c.1083+1G>A

SNV
Germline

Chr16:89792470

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397466552

rs_2544275708

1 SubmittersRCV003043416

NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)

SNV
Germline

Chr17:61686145

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400481978

rs_2544574598

3 SubmittersRCV003049543 RCV003336798

NM_000135.4(FANCA):c.1576G>T (p.Glu526Ter)

SNV
Germline

Chr16:89782909

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397458019

rs_1274321707

1 SubmittersRCV003047487

NM_032043.3(BRIP1):c.2492+1G>T

SNV
Germline

Chr17:61715950

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Single Submitter

CA400479374

rs_1567755539

2 SubmittersRCV003033251 RCV003475475

NM_032043.3(BRIP1):c.2905+2T>A

SNV
Germline

Chr17:61685834

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400481085

rs_1603276502

3 SubmittersRCV003055843 RCV005248924 RCV003493975

NM_022725.4(FANCF):c.535A>T (p.Lys179Ter)

SNV
Germline

Chr11:22625276

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA380058846

rs_2133797511

1 SubmittersRCV003048995

NM_000135.4(FANCA):c.1737C>A (p.Tyr579Ter)

SNV
Germline

Chr16:89778982

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397454869

rs_529199293

1 SubmittersRCV003057189

NM_004629.2(FANCG):c.1637-1G>A

SNV
Germline

Chr9:35074495

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373301417

rs_2131051986

1 SubmittersRCV003039679

NM_000135.4(FANCA):c.3260C>A (p.Ser1087Ter)

SNV
Germline

Chr16:89748747

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397486371

rs_376089640

1 SubmittersRCV003048691

NM_058216.3(RAD51C):c.543G>C (p.Gln181His)

SNV
Germline

Chr17:58696831

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400345279

rs_777351392

2 SubmittersRCV003048278 RCV004673779

NM_021922.3(FANCE):c.422G>A (p.Arg141Gln)

SNV
Germline

Chr6:35455920

Conflicting classifications of pathogenicity

Inborn genetic diseases
Fanconi anemia complementation group E

Criteria Provided
Conflicting Classifications

CA137294560

rs_376243211

2 SubmittersRCV002702410 RCV003777649

NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)

SNV
Germline

Chr9:95249168

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA5137832

rs_758116389

2 SubmittersRCV003145116 RCV003635999

NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val)

SNV
Germline

ChrX:14844615

Conflicting classifications of pathogenicity

Fanconi anemia complementation group B
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA10352973

rs_764091042

2 SubmittersRCV003147172 RCV003636001

NM_032043.3(BRIP1):c.1341-1G>C

SNV
Germline

Chr17:61793730

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482365

rs_2545108710

2 SubmittersRCV003139516 RCV003336822

NM_001113378.2(FANCI):c.3187-2A>G

SNV
Germline

Chr15:89305339

Likely pathogenic

Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA393739618

rs_1472123387

2 SubmittersRCV003155617

NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter)

SNV
Germline

Chr16:89767171

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397440487

rs_2039158032

2 SubmittersRCV003155659 RCV005021829

NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)

SNV
Germline

Chr3:10046697

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351734392

rs_2125000569

1 SubmittersRCV003155819

NM_005236.3(ERCC4):c.100G>A (p.Val34Met)

SNV
Germline

Chr16:13920265

Conflicting classifications of pathogenicity

Ovarian cancer
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

CA394816150

rs_61731714

2 SubmittersRCV003154735 RCV003778920

NM_000135.4(FANCA):c.628C>T (p.Leu210Phe)

SNV
Germline

Chr16:89805361

Conflicting classifications of pathogenicity

Ovarian cancer
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA397478124

rs_2143632135

2 SubmittersRCV003154794 RCV005021828

NM_032043.3(BRIP1):c.3006G>A (p.Trp1002Ter)

SNV
Germline

Chr17:61684040

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400480009

rs_546083449

2 SubmittersRCV003171300 RCV005216001

NM_022836.4(DCLRE1B):c.248A>G (p.Asp83Gly)

SNV
Germline

Chr1:113907054

Pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA1016322

rs_773744466

1 SubmittersRCV003221327

NM_022836.4(DCLRE1B):c.807C>T (p.His269=)

SNV
Germline

Chr1:113911399

Pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA1016469

rs_201357602

1 SubmittersRCV003221328

NM_002875.5(RAD51):c.590C>T (p.Thr197Ile)

SNV
Germline

Chr15:40728770

Likely pathogenic

Fanconi anemia complementation group R

Criteria Provided
Single Submitter

CA391757313

rs_2504524090

1 SubmittersRCV003225638

NM_000135.4(FANCA):c.1367T>C (p.Phe456Ser)

SNV
Germline

Chr16:89784957

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397460218

rs_2544250338

1 SubmittersRCV003232890

NM_032043.3(BRIP1):c.3170A>G (p.Asn1057Ser)

SNV
Germline

Chr17:61683876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292267466

rs_951001849

2 SubmittersRCV003297010 RCV005216035

NM_032043.3(BRIP1):c.94-1G>A

SNV
Germline

Chr17:61859908

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485886

rs_761653387

2 SubmittersRCV003317005 RCV003777291

NM_000136.3(FANCC):c.406C>T (p.Gln136Ter)

SNV
Unknown

Chr9:95172087

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374338797

rs_1407999116

1 SubmittersRCV003330195

NM_032444.4(SLX4):c.100C>T (p.Gln34Ter)

SNV
Germline

Chr16:3608865

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394547963

rs_2151139881

1 SubmittersRCV003330473

NM_058216.3(RAD51C):c.972A>G (p.Ala324=)

SNV
Germline

Chr17:58732490

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400364860

rs_1555605052

2 SubmittersRCV003334203 RCV003777415

NM_032043.3(BRIP1):c.2763T>G (p.Tyr921Ter)

SNV
Germline

Chr17:61685978

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400481582

rs_1555573356

3 SubmittersRCV003336923 RCV004334128 RCV005216059

NM_032043.3(BRIP1):c.1141-2A>C

SNV
Germline

Chr17:61799301

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483842

rs_769583916

2 SubmittersRCV003337099 RCV003777422

NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)

SNV
Germline

Chr17:61776532

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400478540

rs_1603328913

2 SubmittersRCV003335761 RCV003777427

NM_032043.3(BRIP1):c.622C>T (p.Gln208Ter)

SNV
Germline

Chr17:61847106

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482793

rs_1443511163

2 SubmittersRCV003335769 RCV005216061

NM_032043.3(BRIP1):c.2258-1G>C

SNV
Germline

Chr17:61743135

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482770

rs_1064793887

2 SubmittersRCV003335774 RCV003777428

NM_024675.4(PALB2):c.2835-2A>G

SNV
Germline

Chr16:23623132

Likely pathogenic

Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395144551

rs_886039613

2 SubmittersRCV003340766 RCV003455803

NM_000135.4(FANCA):c.2505-2A>C

SNV
Germline

Chr16:89767239

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397441005

rs_2544187460

1 SubmittersRCV003338115

NM_000136.3(FANCC):c.1436T>C (p.Leu479Pro)

SNV
Germline

Chr9:95107163

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA374105935

rs_2540809221

2 SubmittersRCV003368119 RCV005047541

NM_000136.3(FANCC):c.1114T>C (p.Ser372Pro)

SNV
Germline

Chr9:95114669

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA374107988

rs_2540948158

2 SubmittersRCV003356323 RCV003989837

NM_020937.4(FANCM):c.4016C>T (p.Thr1339Ile)

SNV
Germline

Chr14:45176770

Conflicting classifications of pathogenicity

Inborn genetic diseases
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA389603953

rs_1166545385

2 SubmittersRCV003367459 RCV003523165

NM_001018113.3(FANCB):c.912A>G (p.Ile304Met)

SNV
Germline

ChrX:14864599

Conflicting classifications of pathogenicity

Inborn genetic diseases
FANCB-related disorder
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA327063394

rs_765890822

3 SubmittersRCV003385646 RCV004750374 RCV005104189

NM_032043.3(BRIP1):c.396C>G (p.Thr132=)

SNV
Germline

Chr17:61849240

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501150928

rs_2145766215

3 SubmittersRCV003778150 RCV003382352

NM_032043.3(BRIP1):c.303C>A (p.Asn101Lys)

SNV
Germline

Chr17:61857134

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400485412

rs_1425170841

2 SubmittersRCV003382353 RCV003778151

NM_032043.3(BRIP1):c.1389A>G (p.Ser463=)

SNV
Germline

Chr17:61793681

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501151294

rs_2545107450

3 SubmittersRCV003477088 RCV005216078 RCV003382362

NM_000135.4(FANCA):c.504A>G (p.Gln168=)

SNV
Germline

Chr16:89810725

Conflicting classifications of pathogenicity

FANCA-related disorder
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA497379561

rs_2040844773

2 SubmittersRCV003402438 RCV003636013

NM_000135.4(FANCA):c.3662A>T (p.Asn1221Ile)

SNV
Germline

Chr16:89742903

Conflicting classifications of pathogenicity

FANCA-related disorder
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA397485487

rs_2062171554

2 SubmittersRCV003402549 RCV003636014

NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)

SNV
Germline

Chr9:35076726

Pathogenic/Likely pathogenic

Fanconi anemia
FANCG-related disorder
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA373312753

rs_2131055853

3 SubmittersRCV003523169 RCV003416907 RCV004572971

NM_001018115.3(FANCD2):c.1018C>T (p.Gln340Ter)

SNV
Germline

Chr3:10043512

Pathogenic/Likely pathogenic

FANCD2-related disorder
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA351730570

rs_2086918352

2 SubmittersRCV003420938 RCV003778327

NM_001018115.3(FANCD2):c.2269+1G>A

SNV
Germline

Chr3:10065495

Likely pathogenic

Condition: not provided
Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351735095

rs_1378153259

4 SubmittersRCV003433419 RCV003636019 RCV004572976

NM_000135.4(FANCA):c.4167+1G>A

SNV
Germline

Chr16:89739132

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397484246

rs_2544078574

2 SubmittersRCV003444397

NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)

SNV
Germline

Chr16:3608859

Pathogenic/Likely pathogenic

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA394547951

rs_2151139871

2 SubmittersRCV003447866 RCV003778494

NM_058216.3(RAD51C):c.838-1G>C

SNV
Germline

Chr17:58720745

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA400359312

rs_2143929613

3 SubmittersRCV003463444 RCV005100214

NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter)

SNV
Unknown

Chr6:35459439

Pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363776888

rs_2150896659

1 SubmittersRCV003468144

NM_021922.3(FANCE):c.248+1G>T

SNV
Unknown

Chr6:35452794

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363770988

rs_1480350743

1 SubmittersRCV003468147

NM_022725.4(FANCF):c.898C>T (p.Gln300Ter)

SNV
Unknown

Chr11:22624913

Likely pathogenic

Fanconi anemia complementation group F

Criteria Provided
Single Submitter

CA380058104

rs_2494861863

1 SubmittersRCV003461482

NM_022725.4(FANCF):c.202C>T (p.Gln68Ter)

SNV
Unknown

Chr11:22625609

Likely pathogenic

Fanconi anemia complementation group F

Criteria Provided
Single Submitter

CA380059508

rs_762741561

1 SubmittersRCV003468149

NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)

SNV
Germline

Chr11:22625153

Pathogenic/Likely pathogenic

Fanconi anemia complementation group F
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA380058595

rs_2133797177

2 SubmittersRCV003461486 RCV003523185

NM_004629.2(FANCG):c.1636+1G>C

SNV
Germline

Chr9:35074926

Likely pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA373303180

rs_1829054352

2 SubmittersRCV003468152 RCV005100161

NM_004629.2(FANCG):c.307+1G>A

SNV
Unknown

Chr9:35078604

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

CA5040090

rs_200479612

1 SubmittersRCV003461492

NM_004629.2(FANCG):c.366G>A (p.Trp122Ter)

SNV
Unknown

Chr9:35078285

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

CA373314544

rs_546023787

1 SubmittersRCV003468155

NM_004629.2(FANCG):c.1144-1G>A

SNV
Germline

Chr9:35075755

Pathogenic/Likely pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA373309779

rs_755363896

2 SubmittersRCV003468156 RCV003779029

NM_004629.2(FANCG):c.739C>T (p.Gln247Ter)

SNV
Unknown

Chr9:35077009

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

CA373313504

rs_145613634

1 SubmittersRCV003461496

NM_004629.2(FANCG):c.1480+1G>A

SNV
Unknown

Chr9:35075278

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

CA373305444

rs_149616199

1 SubmittersRCV003461498

NM_004629.2(FANCG):c.510+1G>A

SNV
Unknown

Chr9:35078140

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

CA5040032

rs_764658302

1 SubmittersRCV003468160

NM_004629.2(FANCG):c.125T>A (p.Leu42Ter)

SNV
Unknown

Chr9:35079201

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

CA373315703

rs_2490410471

1 SubmittersRCV003461500

NM_004629.2(FANCG):c.592C>T (p.Gln198Ter)

SNV
Unknown

Chr9:35077318

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

CA373314077

rs_2131057155

1 SubmittersRCV003461501

NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)

SNV
Germline

Chr9:35075557

Pathogenic/Likely pathogenic

Fanconi anemia complementation group G
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA5039769

rs_778986343

2 SubmittersRCV003461502 RCV003636028

NM_004629.2(FANCG):c.508C>T (p.Gln170Ter)

SNV
Unknown

Chr9:35078143

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

CA373314261

rs_2490407241

1 SubmittersRCV003461505

NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter)

SNV
Unknown

Chr15:89307482

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393740762

rs_2508599743

1 SubmittersRCV003461508

NM_001113378.2(FANCI):c.1584-1G>A

SNV
Unknown

Chr15:89283135

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393744871

rs_1567158538

1 SubmittersRCV003468164

NM_001113378.2(FANCI):c.3007-1G>C

SNV
Germline

Chr15:89303863

Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA7723558

rs_117921863

3 SubmittersRCV003461510 RCV003636030

NM_001113378.2(FANCI):c.2726T>A (p.Leu909Ter)

SNV
Unknown

Chr15:89299889

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393736894

rs_2507839621

1 SubmittersRCV003468165

NM_001113378.2(FANCI):c.1024C>T (p.Gln342Ter)

SNV
Unknown

Chr15:89274216

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA274553431

rs_886376531

1 SubmittersRCV003468168

NM_001113378.2(FANCI):c.3924+2T>C

SNV
Unknown

Chr15:89315391

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393744999

rs_1596343067

1 SubmittersRCV003468170

NM_001113378.2(FANCI):c.782C>G (p.Ser261Ter)

SNV
Unknown

Chr15:89268425

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393740094

rs_1465252834

1 SubmittersRCV003461517

NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)

SNV
Germline

Chr15:89291619

Pathogenic/Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA393748636

rs_2507355048

2 SubmittersRCV003461520 RCV003636031

NM_001113378.2(FANCI):c.669+1G>T

SNV
Unknown

Chr15:89264027

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA7722710

rs_745324944

1 SubmittersRCV003468172

NM_001113378.2(FANCI):c.1112+2T>C

SNV
Unknown

Chr15:89274306

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393741799

rs_2506231338

1 SubmittersRCV003461523

NM_001113378.2(FANCI):c.2456+1G>A

SNV
Germline

Chr15:89293998

Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA393750511

rs_1437269265

2 SubmittersRCV003461524 RCV003636033

NM_001113378.2(FANCI):c.1981C>T (p.Gln661Ter)

SNV
Unknown

Chr15:89291703

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA7723231

rs_749802895

1 SubmittersRCV003468173

NM_001113378.2(FANCI):c.2890-2A>C

SNV
Unknown

Chr15:89301324

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393737555

rs_1209869642

1 SubmittersRCV003461526

NM_001113378.2(FANCI):c.2804-2A>G

SNV
Unknown

Chr15:89300298

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA7723476

rs_747291682

1 SubmittersRCV003461527

NM_001113378.2(FANCI):c.2889+1G>A

SNV
Unknown

Chr15:89300386

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393737551

rs_2507880932

1 SubmittersRCV003461528

NM_001113378.2(FANCI):c.2975T>A (p.Leu992Ter)

SNV
Unknown

Chr15:89301411

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393737898

rs_2507936447

1 SubmittersRCV003468175

NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)

SNV
Germline

Chr15:89299843

Pathogenic/Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA274521724

rs_965134950

2 SubmittersRCV003468176 RCV003779032

NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter)

SNV
Germline

Chr15:89292792

Pathogenic/Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA393749083

rs_148415946

2 SubmittersRCV003468177 RCV005100164

NM_001113378.2(FANCI):c.1699-2A>C

SNV
Unknown

Chr15:89285094

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393745601

rs_1429870785

1 SubmittersRCV003461531

NM_001113378.2(FANCI):c.2637-1G>T

SNV
Unknown

Chr15:89299799

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393736454

rs_1198815779

1 SubmittersRCV003461532

NM_001113378.2(FANCI):c.1186A>T (p.Lys396Ter)

SNV
Unknown

Chr15:89276784

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393742156

rs_2053427139

1 SubmittersRCV003461535

NM_001113378.2(FANCI):c.1584-1G>C

SNV
Germline

Chr15:89283135

Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA393744872

rs_1567158538

2 SubmittersRCV003461537 RCV003523187

NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter)

SNV
Germline

Chr15:89292754

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA393748994

rs_2507391791

2 SubmittersRCV003461539

NM_001113378.2(FANCI):c.2804-2A>T

SNV
Germline

Chr15:89300298

Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA393737231

rs_747291682

2 SubmittersRCV003461540 RCV003523188

NM_001113378.2(FANCI):c.3117T>G (p.Tyr1039Ter)

SNV
Unknown

Chr15:89305173

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393739284

rs_2151913256

1 SubmittersRCV003461542

NM_001113378.2(FANCI):c.3007-1G>T

SNV
Unknown

Chr15:89303863

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393738634

rs_117921863

1 SubmittersRCV003461543

NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter)

SNV
Germline

Chr15:89276844

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA393742432

rs_2506453150

2 SubmittersRCV003461544

NM_001113378.2(FANCI):c.1890+1G>T

SNV
Unknown

Chr15:89290282

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA7723195

rs_764306023

1 SubmittersRCV003461549

NM_001113378.2(FANCI):c.1293+1G>T

SNV
Unknown

Chr15:89276892

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA393742653

rs_768310043

1 SubmittersRCV003468183

NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter)

SNV
Germline

Chr15:89273383

Pathogenic/Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA393741290

rs_2506174334

2 SubmittersRCV003461550 RCV005100165

NM_018062.4(FANCL):c.217-2A>G

SNV
Germline

Chr2:58226786

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group L
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA1670733

rs_755417959

3 SubmittersRCV003457068 RCV003466080 RCV003523181

NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)

SNV
Germline

Chr2:58162947

Pathogenic/Likely pathogenic

Fanconi anemia complementation group L
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA346935485

rs_2104795249

2 SubmittersRCV003461551 RCV003636035

NM_018062.4(FANCL):c.1092+1G>C

SNV
Unknown

Chr2:58160107

Likely pathogenic

Fanconi anemia complementation group L

Criteria Provided
Single Submitter

CA346930854

rs_2466546655

1 SubmittersRCV003461552

NM_018062.4(FANCL):c.158T>G (p.Leu53Ter)

SNV
Unknown

Chr2:58229872

Likely pathogenic

Fanconi anemia complementation group L

Criteria Provided
Single Submitter

CA347034871

rs_1197542093

1 SubmittersRCV003468185

NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)

SNV
Germline

Chr2:58241225

Pathogenic/Likely pathogenic

Fanconi anemia complementation group L
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA1670818

rs_763615183

2 SubmittersRCV003461556 RCV003636036

NM_018062.4(FANCL):c.335C>G (p.Ser112Ter)

SNV
Unknown

Chr2:58221981

Likely pathogenic

Fanconi anemia complementation group L

Criteria Provided
Single Submitter

CA347034452

rs_756590256

1 SubmittersRCV003461557

NM_018062.4(FANCL):c.964C>T (p.Gln322Ter)

SNV
Unknown

Chr2:58161578

Likely pathogenic

Fanconi anemia complementation group L

Criteria Provided
Single Submitter

CA346932946

rs_764186411

1 SubmittersRCV003461558

NM_018062.4(FANCL):c.64A>T (p.Lys22Ter)

SNV
Unknown

Chr2:58241250

Likely pathogenic

Fanconi anemia complementation group L

Criteria Provided
Single Submitter

CA1670823

rs_756420413

1 SubmittersRCV003461560

NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)

SNV
Germline

Chr2:58160128

Likely pathogenic

Fanconi anemia complementation group L
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA48351265

rs_933913059

2 SubmittersRCV003461561 RCV003779033

NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)

SNV
Germline

Chr2:58165779

Pathogenic/Likely pathogenic

Fanconi anemia complementation group L
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA346937036

rs_1685876126

2 SubmittersRCV003468190 RCV003636038

NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)

SNV
Unknown

Chr16:89791504

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA8252424

rs_760352719

1 SubmittersRCV003460136

NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter)

SNV
Unknown

Chr16:89740081

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397485077

rs_2544088649

1 SubmittersRCV003460137

NM_000135.4(FANCA):c.1084-1G>T

SNV
Unknown

Chr16:89792069

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397466432

rs_2040094761

1 SubmittersRCV003460138

NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)

SNV
Unknown

Chr16:89748688

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397486245

rs_2544126059

1 SubmittersRCV003460139

NM_000135.4(FANCA):c.3765+1G>A

SNV
Unknown

Chr16:89742799

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397485271

rs_2062169124

1 SubmittersRCV003460147

NM_000135.4(FANCA):c.15G>A (p.Trp5Ter)

SNV
Unknown

Chr16:89816601

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397484620

rs_2143731999

1 SubmittersRCV003460148

NM_000135.4(FANCA):c.283+2T>C

SNV
Germline

Chr16:89814518

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397482408

rs_2544382014

2 SubmittersRCV003460150 RCV003523182

NM_000135.4(FANCA):c.1826+2T>C

SNV
Unknown

Chr16:89778799

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397454261

rs_2039603867

1 SubmittersRCV003460154

NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter)

SNV
Unknown

Chr16:89745067

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397485791

rs_1318931629

1 SubmittersRCV003460155

NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)

SNV
Unknown

Chr16:89752220

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397427538

rs_746997654

1 SubmittersRCV003460157

NM_000135.4(FANCA):c.3514-1G>C

SNV
Unknown

Chr16:89745072

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397485800

rs_2143088468

1 SubmittersRCV003460158

NM_000135.4(FANCA):c.522+2T>G

SNV
Unknown

Chr16:89810705

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397480627

rs_2143677013

1 SubmittersRCV003460159

NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)

SNV
Unknown

Chr16:89815961

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397483628

rs_747928827

1 SubmittersRCV003468103

NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter)

SNV
Unknown

Chr16:89739141

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397484268

rs_1436768029

1 SubmittersRCV003460162

NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter)

SNV
Germline

Chr16:89791993

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA397466179

rs_2040091881

3 SubmittersRCV003460164 RCV005100158

NM_000135.4(FANCA):c.793-2A>T

SNV
Unknown

Chr16:89799640

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397473718

rs_2040372065

1 SubmittersRCV003468108

NM_000135.4(FANCA):c.1006+1G>A

SNV
Unknown

Chr16:89795905

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397469754

rs_1555564436

1 SubmittersRCV003468110

NM_000135.4(FANCA):c.80-2A>G

SNV
Unknown

Chr16:89815988

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397483840

rs_2544390610

1 SubmittersRCV003460168

NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)

SNV
Unknown

Chr16:89814577

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397482544

rs_2143711335

1 SubmittersRCV003460169

NM_000135.4(FANCA):c.1226-2A>C

SNV
Unknown

Chr16:89791538

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397464708

rs_773906241

1 SubmittersRCV003460170

NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)

SNV
Germline

Chr16:89805362

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA286606209

rs_1018067067

3 SubmittersRCV003460172 RCV003523183

NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)

SNV
Unknown

Chr16:89765063

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397438938

rs_1286812517

1 SubmittersRCV003468115

NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)

SNV
Unknown

Chr16:89792517

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397466807

rs_2040109989

1 SubmittersRCV003468116

NM_000136.3(FANCC):c.457-2A>G

SNV
Germline

Chr9:95171145

Likely pathogenic

Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374338683

rs_1825653450

2 SubmittersRCV003460183 RCV004949091

NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter)

SNV
Unknown

Chr9:95111521

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374107343

rs_2540884610

1 SubmittersRCV003468121

NM_000136.3(FANCC):c.346-1G>C

SNV
Unknown

Chr9:95172148

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374338923

rs_1484503633

1 SubmittersRCV003468122

NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter)

SNV
Unknown

Chr9:95114691

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374108037

rs_2540948713

1 SubmittersRCV003460184

NM_000136.3(FANCC):c.836C>G (p.Ser279Ter)

SNV
Unknown

Chr9:95135353

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA374109181

rs_1588134180

1 SubmittersRCV003460188

NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)

SNV
Germline

Chr3:10074590

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D2
FANCD2-related disorder
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA2250185

rs_748180733

4 SubmittersRCV003468123 RCV003901088 RCV003779026

NM_001018115.3(FANCD2):c.4186-2A>G

SNV
Unknown

Chr3:10098718

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351758577

rs_2125100684

1 SubmittersRCV003460189

NM_001018115.3(FANCD2):c.65-2A>G

SNV
Unknown

Chr3:10032830

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351717816

rs_2470708647

1 SubmittersRCV003460191

NM_001018115.3(FANCD2):c.309C>A (p.Tyr103Ter)

SNV
Unknown

Chr3:10034730

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351720641

rs_2086688174

1 SubmittersRCV003468126

NM_001018115.3(FANCD2):c.3225G>A (p.Trp1075Ter)

SNV
Unknown

Chr3:10085812

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351750759

rs_1694160600

1 SubmittersRCV003460193

NM_001018115.3(FANCD2):c.4100T>G (p.Leu1367Ter)

SNV
Unknown

Chr3:10096387

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA2250626

rs_765840374

1 SubmittersRCV003460196

NM_001018115.3(FANCD2):c.1279-2A>C

SNV
Unknown

Chr3:10047915

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351735592

rs_748006255

1 SubmittersRCV003460197

NM_001018115.3(FANCD2):c.193C>T (p.Gln65Ter)

SNV
Unknown

Chr3:10032960

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351719015

rs_2470709565

1 SubmittersRCV003460200

NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)

SNV
Germline

Chr3:10039307

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351723768

rs_1449126896

3 SubmittersRCV003460202

NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)

SNV
Germline

Chr3:10063840

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA2249858

rs_755464133

2 SubmittersRCV003460204 RCV003779028

NM_001018115.3(FANCD2):c.1545+1G>T

SNV
Unknown

Chr3:10049506

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351738122

rs_2087133817

1 SubmittersRCV003460207

NM_001018115.3(FANCD2):c.1864G>T (p.Glu622Ter)

SNV
Unknown

Chr3:10063828

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351729801

rs_375951862

1 SubmittersRCV003468132

NM_001018115.3(FANCD2):c.3466+1G>A

SNV
Unknown

Chr3:10087265

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351752481

rs_1301819180

1 SubmittersRCV003468133

NM_001018115.3(FANCD2):c.2052C>A (p.Tyr684Ter)

SNV
Unknown

Chr3:10064759

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351732995

rs_776906387

1 SubmittersRCV003460209

NM_001018115.3(FANCD2):c.309C>G (p.Tyr103Ter)

SNV
Unknown

Chr3:10034730

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351720644

rs_2086688174

1 SubmittersRCV003460210

NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)

SNV
Germline

Chr3:10060321

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351726704

rs_1477306020

2 SubmittersRCV003523184 RCV003468134

NM_001018115.3(FANCD2):c.3889-2A>G

SNV
Germline

Chr3:10094287

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351756419

rs_2470076242

2 SubmittersRCV003460213

NM_001018115.3(FANCD2):c.1408C>T (p.Gln470Ter)

SNV
Unknown

Chr3:10048046

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351736743

rs_1249534623

1 SubmittersRCV003468135

NM_001018115.3(FANCD2):c.1135-1G>C

SNV
Unknown

Chr3:10046579

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351733479

rs_781626919

1 SubmittersRCV003460215

NM_001018115.3(FANCD2):c.1318C>T (p.Gln440Ter)

SNV
Unknown

Chr3:10047956

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA2249607

rs_762406982

1 SubmittersRCV003468139

NM_001018115.3(FANCD2):c.378-1G>C

SNV
Unknown

Chr3:10035172

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

CA351720951

rs_2470721256

1 SubmittersRCV003460217

NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)

SNV
Germline

Chr3:10052429

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA70036698

rs_962867926

2 SubmittersRCV003468140 RCV003636023

NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)

SNV
Germline

Chr3:10064859

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA2249974

rs_774707377

2 SubmittersRCV003460219 RCV003636024

NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)

SNV
Germline

Chr6:35452645

Pathogenic/Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Multiple Submitters
No Conflicts

CA363770137

rs_1324357775

2 SubmittersRCV003468141

NM_021922.3(FANCE):c.1237+1G>A

SNV
Germline

Chr6:35459455

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Multiple Submitters
No Conflicts

CA363776947

rs_1767499634

2 SubmittersRCV003461468

NM_021922.3(FANCE):c.1317-1G>A

SNV
Unknown

Chr6:35460551

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363777378

rs_2533684676

1 SubmittersRCV003461469

NM_021922.3(FANCE):c.969+1G>A

SNV
Unknown

Chr6:35457985

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363775015

rs_2533669831

1 SubmittersRCV003468142

NM_021922.3(FANCE):c.1383+2T>C

SNV
Unknown

Chr6:35460620

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363777822

rs_764971229

1 SubmittersRCV003461470

NM_021922.3(FANCE):c.1113+2T>A

SNV
Germline

Chr6:35458442

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Multiple Submitters
No Conflicts

CA363775534

rs_2150895090

2 SubmittersRCV003461471

NM_021922.3(FANCE):c.1238-2A>C

SNV
Unknown

Chr6:35459680

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA137301265

rs_927227725

1 SubmittersRCV003461475

NM_020937.4(FANCM):c.3783A>G (p.Gly1261=)

SNV
Germline

Chr14:45176537

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA486347189

rs_2503194551

2 SubmittersRCV003477219 RCV003636039

NM_032043.3(BRIP1):c.621A>G (p.Pro207=)

SNV
Germline

Chr17:61847107

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690898

rs_771891225

4 SubmittersRCV003494216 RCV004786949 RCV003779296 RCV004999948

NM_001113378.2(FANCI):c.2291+1G>A

SNV
Germline

Chr15:89293064

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393749584

rs_2507402611

1 SubmittersRCV003523242

NM_000135.4(FANCA):c.814A>T (p.Arg272Ter)

SNV
Germline

Chr16:89799617

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397473520

rs_2544305562

1 SubmittersRCV003523359

NM_001018115.3(FANCD2):c.1098+2T>A

SNV
Germline

Chr3:10043594

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351731103

rs_2470758691

1 SubmittersRCV003523225

NM_058216.3(RAD51C):c.627T>G (p.Tyr209Ter)

SNV
Germline

Chr17:58703251

Pathogenic

Fanconi anemia complementation group O
RAD51C-related disorder
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400349446

rs_2509299617

4 SubmittersRCV003508081 RCV004736343 RCV004368982 RCV004368981

NM_001113378.2(FANCI):c.475C>T (p.Gln159Ter)

SNV
Germline

Chr15:89261850

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393738560

rs_765463274

1 SubmittersRCV003524085

NM_024675.4(PALB2):c.3202-13T>C

SNV
Germline

Chr16:23608025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2697555733

rs_2142274636

5 SubmittersRCV003585421 RCV003596262 RCV005230518 RCV003500873

NM_000136.3(FANCC):c.1582C>T (p.Gln528Ter)

SNV
Germline

Chr9:95101802

Pathogenic

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374104629

rs_2540750383

2 SubmittersRCV003523908 RCV004950380

NM_001018115.3(FANCD2):c.3501G>A (p.Trp1167Ter)

SNV
Germline

Chr3:10088483

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351752936

rs_2125076614

1 SubmittersRCV003524051

NM_032444.4(SLX4):c.951-1G>C

SNV
Germline

Chr16:3601192

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA7866668

rs_750371433

1 SubmittersRCV003522174

NM_000135.4(FANCA):c.736G>T (p.Gly246Ter)

SNV
Germline

Chr16:89803315

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397476308

rs_1486237562

1 SubmittersRCV003522219

NM_018062.4(FANCL):c.471+2T>C

SNV
Germline

Chr2:58204128

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group L

Criteria Provided
Multiple Submitters
No Conflicts

CA347034005

rs_2467183138

2 SubmittersRCV003524285 RCV004574067

NM_001113378.2(FANCI):c.3007-1G>A

SNV
Germline

Chr15:89303863

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA7723557

rs_117921863

1 SubmittersRCV003522279

NM_001113378.2(FANCI):c.2097C>A (p.Tyr699Ter)

SNV
Germline

Chr15:89292792

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393749082

rs_148415946

1 SubmittersRCV003524162

NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)

SNV
Germline

Chr2:58161609

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group L

Criteria Provided
Multiple Submitters
No Conflicts

CA346933185

rs_1423411761

2 SubmittersRCV003522183 RCV004574072

NM_001018115.3(FANCD2):c.2406G>A (p.Gln802=)

SNV
Germline

Chr3:10067229

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA432407229

rs_80258959

2 SubmittersRCV003522567 RCV005036870

NM_018062.4(FANCL):c.471+1G>A

SNV
Germline

Chr2:58204129

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347034009

rs_2467183164

1 SubmittersRCV003525005

NM_020937.4(FANCM):c.4637T>G (p.Leu1546Ter)

SNV
Germline

Chr14:45185338

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7169811

rs_755094018

2 SubmittersRCV003525073 RCV004999963

NM_001018115.3(FANCD2):c.3019A>T (p.Arg1007Ter)

SNV
Germline

Chr3:10081142

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351747338

rs_2470014699

1 SubmittersRCV003525074

NM_001113378.2(FANCI):c.446-2A>G

SNV
Germline

Chr15:89261819

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393738491

rs_2505910980

1 SubmittersRCV003525079

NM_018062.4(FANCL):c.940C>T (p.Gln314Ter)

SNV
Germline

Chr2:58161602

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA1670376

rs_765022740

1 SubmittersRCV003525080

NM_020937.4(FANCM):c.2034G>A (p.Trp678Ter)

SNV
Germline

Chr14:45170620

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389595889

rs_2503162667

1 SubmittersRCV003525089

NM_032444.4(SLX4):c.1242C>T (p.Asp414=)

SNV
Germline

Chr16:3597921

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866578

rs_773150424

2 SubmittersRCV003522376 RCV005013011

NM_001113378.2(FANCI):c.244C>T (p.Gln82Ter)

SNV
Germline

Chr15:89260799

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393738033

rs_2505879863

1 SubmittersRCV003522381

NM_001018115.3(FANCD2):c.2977-13G>T

SNV
Germline

Chr3:10081087

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA2250255

rs_756911727

2 SubmittersRCV003522450 RCV005036865

NM_020937.4(FANCM):c.4673-1G>A

SNV
Germline

Chr14:45187780

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389609698

rs_2503238068

1 SubmittersRCV003524873

NM_032444.4(SLX4):c.1404C>T (p.Pro468=)

SNV
Germline

Chr16:3597658

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA493392459

rs_765351696

2 SubmittersRCV003524947 RCV005013018

NM_001018115.3(FANCD2):c.667C>T (p.Gln223Ter)

SNV
Germline

Chr3:10039817

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351725245

rs_1307143430

1 SubmittersRCV003525041

NM_001113378.2(FANCI):c.2134A>T (p.Arg712Ter)

SNV
Germline

Chr15:89292829

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA274574745

rs_1017506584

1 SubmittersRCV003522504

NM_001113378.2(FANCI):c.85-1G>A

SNV
Germline

Chr15:89258703

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393737304

rs_1195350202

1 SubmittersRCV003522593

NM_001018115.3(FANCD2):c.889-2A>G

SNV
Germline

Chr3:10043048

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351729430

rs_1349881828

2 SubmittersRCV003525114 RCV004796819

NM_032444.4(SLX4):c.4549G>T (p.Glu1517Ter)

SNV
Germline

Chr16:3589089

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394516906

rs_2151120967

1 SubmittersRCV003525339

NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter)

SNV
Germline

Chr16:89758626

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA8251435

rs_774146374

3 SubmittersRCV003525343 RCV004574110

NM_001018115.3(FANCD2):c.3250C>T (p.Gln1084Ter)

SNV
Germline

Chr3:10085837

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351750992

rs_747450518

1 SubmittersRCV003523429

NM_001113378.2(FANCI):c.2014C>T (p.Gln672Ter)

SNV
Germline

Chr15:89292709

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393748897

rs_2507390142

1 SubmittersRCV003525252

NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile)

SNV
Germline

Chr16:89758698

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA397431581

rs_2544157065

2 SubmittersRCV003523571 RCV004574118

NM_004629.2(FANCG):c.601C>T (p.Gln201Ter)

SNV
Germline

Chr9:35077309

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373314038

rs_1829103547

1 SubmittersRCV003523464

NM_001018115.3(FANCD2):c.695+1G>A

SNV
Germline

Chr3:10039846

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351725370

rs_2470740565

1 SubmittersRCV003523467

NM_020937.4(FANCM):c.5340+2T>C

SNV
Germline

Chr14:45189364

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389613392

rs_2503247331

1 SubmittersRCV003523625

NM_001018115.3(FANCD2):c.3224+1G>C

SNV
Germline

Chr3:10081465

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351749146

rs_1468320596

1 SubmittersRCV003523679

NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)

SNV
Germline

Chr2:58204217

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347034205

rs_1245585990

1 SubmittersRCV003523738

NM_000135.4(FANCA):c.2981+13C>T

SNV
Germline

Chr16:89758564

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA2635022759

rs_2038838513

2 SubmittersRCV003525358 RCV005014782

NM_020937.4(FANCM):c.2503G>T (p.Glu835Ter)

SNV
Germline

Chr14:45175257

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389597989

rs_2503181309

1 SubmittersRCV003523534

NM_000136.3(FANCC):c.994C>T (p.Gln332Ter)

SNV
Germline

Chr9:95125088

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374108731

rs_1425473449

1 SubmittersRCV003523540

NM_001113378.2(FANCI):c.3808A>T (p.Lys1270Ter)

SNV
Germline

Chr15:89314699

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393744242

rs_2055132665

1 SubmittersRCV003523729

NM_004629.2(FANCG):c.1352G>A (p.Trp451Ter)

SNV
Germline

Chr9:35075546

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373307424

rs_1829066424

1 SubmittersRCV003523775

NM_004629.2(FANCG):c.1497T>A (p.Cys499Ter)

SNV
Germline

Chr9:35075066

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373305096

rs_1340517333

1 SubmittersRCV003523853

NM_001018115.3(FANCD2):c.3849+1G>T

SNV
Germline

Chr3:10092253

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351755876

rs_2125086228

1 SubmittersRCV003523860

NM_001113378.2(FANCI):c.157+1G>A

SNV
Germline

Chr15:89258777

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393737619

rs_2505814781

1 SubmittersRCV003524507

NM_001113378.2(FANCI):c.1105A>T (p.Lys369Ter)

SNV
Germline

Chr15:89274297

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393741778

rs_2053320150

1 SubmittersRCV003524435

NM_000136.3(FANCC):c.996+2T>C

SNV
Germline

Chr9:95125084

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374108713

rs_2541136426

1 SubmittersRCV003524439

NM_001113378.2(FANCI):c.976-1G>T

SNV
Germline

Chr15:89274167

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393741494

rs_1325973604

1 SubmittersRCV003524444

NM_001018115.3(FANCD2):c.3998T>A (p.Leu1333Ter)

SNV
Germline

Chr3:10095234

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351757201

rs_2470081071

1 SubmittersRCV003524491

NM_001018115.3(FANCD2):c.888+1G>A

SNV
Germline

Chr3:10042664

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351729151

rs_2470754013

1 SubmittersRCV003524681

NM_004629.2(FANCG):c.925-1G>T

SNV
Germline

Chr9:35076584

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373311340

rs_2490401769

1 SubmittersRCV003524850

NM_000135.4(FANCA):c.2014+1G>A

SNV
Germline

Chr16:89773270

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397449453

rs_1598116164

1 SubmittersRCV003522702

NM_001113378.2(FANCI):c.3146T>A (p.Leu1049Ter)

SNV
Germline

Chr15:89305202

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA7723604

rs_746544641

1 SubmittersRCV003522708

NM_001018115.3(FANCD2):c.2837T>G (p.Leu946Ter)

SNV
Germline

Chr3:10074651

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351744632

rs_2469997346

1 SubmittersRCV003522781

NM_001018115.3(FANCD2):c.1003C>T (p.Gln335Ter)

SNV
Germline

Chr3:10043497

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351730457

rs_2086917516

1 SubmittersRCV003522782

NM_000135.4(FANCA):c.3310A>T (p.Arg1104Ter)

SNV
Germline

Chr16:89748697

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397486267

rs_1337692923

1 SubmittersRCV003522882

NM_018062.4(FANCL):c.96+2T>A

SNV
Germline

Chr2:58241216

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347035023

rs_2467653249

1 SubmittersRCV003522639

NM_000135.4(FANCA):c.283+2T>G

SNV
Germline

Chr16:89814518

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397482407

rs_2544382014

1 SubmittersRCV003522680

NM_001113378.2(FANCI):c.2292-1G>T

SNV
Germline

Chr15:89293832

Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA393749967

rs_2507438903

2 SubmittersRCV003522681 RCV005435230

NM_001113378.2(FANCI):c.1698+1G>A

SNV
Germline

Chr15:89283251

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA393745227

rs_2506961955

2 SubmittersRCV003522813 RCV004574134

NM_001018115.3(FANCD2):c.2164C>T (p.Gln722Ter)

SNV
Germline

Chr3:10064871

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351733995

rs_2469968856

1 SubmittersRCV003522626

NM_018062.4(FANCL):c.1048C>T (p.Gln350Ter)

SNV
Germline

Chr2:58160152

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA346931206

rs_2466548605

1 SubmittersRCV003524799

NM_000135.4(FANCA):c.16G>T (p.Val6Phe)

SNV
Germline

Chr16:89816600

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA397484610

rs_1348835311

2 SubmittersRCV003524853 RCV005014807

NM_000136.3(FANCC):c.1609G>T (p.Gly537Cys)

SNV
Germline

Chr9:95101775

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374104485

rs_2540749923

2 SubmittersRCV003522659 RCV004621835

NM_000136.3(FANCC):c.1209G>A (p.Trp403Ter)

SNV
Germline

Chr9:95111583

Pathogenic

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374107467

rs_2134550524

2 SubmittersRCV003522888 RCV004621838

NM_032043.3(BRIP1):c.2157G>A (p.Leu719=)

SNV
Germline

Chr17:61744532

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501151350

rs_2144699040

2 SubmittersRCV003779349 RCV003585052

NM_020937.4(FANCM):c.4493C>G (p.Pro1498Arg)

SNV
Germline

Chr14:45183880

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA389607809

rs_2503222671

2 SubmittersRCV003636064 RCV004980896

NM_000135.4(FANCA):c.1360-2A>G

SNV
Germline

Chr16:89784966

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397460254

rs_2143477277

1 SubmittersRCV003636101

NM_004629.2(FANCG):c.1379G>A (p.Gly460Asp)

SNV
Germline

Chr9:35075519

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373307143

rs_2131053808

1 SubmittersRCV003636098

NM_032444.4(SLX4):c.3646C>T (p.Gln1216Ter)

SNV
Germline

Chr16:3589992

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394519688

rs_2151123189

1 SubmittersRCV003636122

NM_001113378.2(FANCI):c.2593C>T (p.Gln865Ter)

SNV
Germline

Chr15:89295051

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393751034

rs_2507513309

1 SubmittersRCV003636345

NM_001018115.3(FANCD2):c.1766+1G>A

SNV
Germline

Chr3:10060404

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351727520

rs_1356755641

1 SubmittersRCV003636229

NM_000135.4(FANCA):c.1210C>T (p.Gln404Ter)

SNV
Germline

Chr16:89791942

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397465976

rs_2143529644

2 SubmittersRCV003636247 RCV005014827

NM_000136.3(FANCC):c.251-2A>T

SNV
Germline

Chr9:95240745

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374339535

rs_1057517219

1 SubmittersRCV003636250

NM_021922.3(FANCE):c.1041G>A (p.Trp347Ter)

SNV
Germline

Chr6:35458368

Pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363775170

rs_1767437018

1 SubmittersRCV003620572

NM_004629.2(FANCG):c.836G>A (p.Trp279Ter)

SNV
Germline

Chr9:35076812

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

CA373313084

rs_2490402601

2 SubmittersRCV003637070 RCV005051354

NM_058216.3(RAD51C):c.388G>C (p.Gly130Arg)

SNV
Germline

Chr17:58695173

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400341950

rs_773293999

2 SubmittersRCV003618411 RCV004371666

NM_000135.4(FANCA):c.1225+2T>G

SNV
Germline

Chr16:89791925

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397465873

rs_746514288

1 SubmittersRCV003637136

NM_058216.3(RAD51C):c.1000G>T (p.Glu334Ter)

SNV
Germline

Chr17:58732518

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400365034

rs_1567817431

2 SubmittersRCV003618432 RCV005425200

NM_000135.4(FANCA):c.3066+1G>C

SNV
Germline

Chr16:89752137

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397425866

rs_587783028

1 SubmittersRCV003637031

NM_001018115.3(FANCD2):c.1654C>T (p.Gln552Ter)

SNV
Germline

Chr3:10052495

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351740833

rs_2469933167

1 SubmittersRCV003637265

NM_058216.3(RAD51C):c.406A>G (p.Met136Val)

SNV
Germline

Chr17:58696694

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400343672

rs_587780254

2 SubmittersRCV003618651 RCV005475430

NM_004629.2(FANCG):c.925-1G>C

SNV
Germline

Chr9:35076584

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373311341

rs_2490401769

1 SubmittersRCV003637195

NM_018062.4(FANCL):c.842T>G (p.Leu281Ter)

SNV
Germline

Chr2:58162927

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA346935313

rs_935920468

1 SubmittersRCV003637234

NM_000135.4(FANCA):c.3824C>G (p.Ser1275Ter)

SNV
Germline

Chr16:89740808

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397485135

rs_2544094857

1 SubmittersRCV003637338

NM_018062.4(FANCL):c.1021-2A>G

SNV
Germline

Chr2:58160181

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group L

Criteria Provided
Multiple Submitters
No Conflicts

CA346931533

rs_2466549886

2 SubmittersRCV003637348 RCV004574283

NM_000135.4(FANCA):c.1716-2A>G

SNV
Germline

Chr16:89779005

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397455036

rs_2143424712

1 SubmittersRCV003637302

NM_001113378.2(FANCI):c.739G>T (p.Glu247Ter)

SNV
Germline

Chr15:89264591

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393739611

rs_2505984539

1 SubmittersRCV003637738

NM_000135.4(FANCA):c.827-1G>A

SNV
Germline

Chr16:89799233

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA8252727

rs_753728435

1 SubmittersRCV003637641

NM_001018115.3(FANCD2):c.2425A>T (p.Lys809Ter)

SNV
Germline

Chr3:10067248

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351737998

rs_2469975881

1 SubmittersRCV003637647

NM_000135.4(FANCA):c.597-2A>T

SNV
Germline

Chr16:89805394

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397478272

rs_2040602804

1 SubmittersRCV003637736

NM_000136.3(FANCC):c.285T>A (p.Cys95Ter)

SNV
Germline

Chr9:95240709

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374339394

rs_2542756107

1 SubmittersRCV003637936

NM_001018115.3(FANCD2):c.2716-9T>A

SNV
Germline

Chr3:10074521

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA540876877

rs_760325562

2 SubmittersRCV003638059 RCV005030192

NM_018062.4(FANCL):c.548T>A (p.Leu183Ter)

SNV
Germline

Chr2:58165867

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA346938151

rs_1174029388

1 SubmittersRCV003637901

NM_058216.3(RAD51C):c.837+5G>A

SNV
Germline

Chr17:58709995

Pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

CA2739268269

rs_1567799952

1 SubmittersRCV003617426

NM_001018115.3(FANCD2):c.2270-1G>C

SNV
Germline

Chr3:10065863

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA70015082

rs_1054458237

1 SubmittersRCV003637887

NM_001018115.3(FANCD2):c.4063C>T (p.Gln1355Ter)

SNV
Germline

Chr3:10096350

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351757648

rs_2125095244

1 SubmittersRCV003637889

NM_032444.4(SLX4):c.1540G>T (p.Glu514Ter)

SNV
Germline

Chr16:3597522

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394528854

rs_1460362157

1 SubmittersRCV003637920

NM_001113378.2(FANCI):c.1293+2T>G

SNV
Germline

Chr15:89276893

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393742662

rs_2506456334

1 SubmittersRCV003637877

NM_001113378.2(FANCI):c.3006+1G>A

SNV
Germline

Chr15:89301443

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393738061

rs_2507937769

1 SubmittersRCV003637912

NM_032444.4(SLX4):c.1163+1G>A

SNV
Germline

Chr16:3600978

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394531237

rs_2151133852

1 SubmittersRCV003637945

NM_032444.4(SLX4):c.2943G>T (p.Gly981=)

SNV
Germline

Chr16:3590695

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA493391808

rs_2040576760

2 SubmittersRCV003638104 RCV005014868

NM_001018115.3(FANCD2):c.695+2T>A

SNV
Germline

Chr3:10039847

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351725378

rs_2470740571

1 SubmittersRCV003638109

NM_018062.4(FANCL):c.903+14G>A

SNV
Germline

Chr2:58162852

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group L

Criteria Provided
Conflicting Classifications

CA1253719614

rs_1186009937

2 SubmittersRCV003635417 RCV005030195

NM_000136.3(FANCC):c.343C>T (p.Gln115Ter)

SNV
Germline

Chr9:95240651

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA5137777

rs_748118992

1 SubmittersRCV003635517

NM_018062.4(FANCL):c.96+2T>C

SNV
Germline

Chr2:58241216

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347035024

rs_2467653249

1 SubmittersRCV003635544

NM_001113378.2(FANCI):c.3199G>T (p.Glu1067Ter)

SNV
Germline

Chr15:89305353

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393739691

rs_2508428231

1 SubmittersRCV003635546

NM_000135.4(FANCA):c.3348+2T>G

SNV
Germline

Chr16:89748657

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397486172

rs_1483121850

1 SubmittersRCV003635501

NM_018062.4(FANCL):c.540+16G>T

SNV
Germline

Chr2:58198578

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group L

Criteria Provided
Conflicting Classifications

CA347033814

rs_2467109377

2 SubmittersRCV003635580 RCV005030201

NM_001113378.2(FANCI):c.878T>G (p.Leu293Ter)

SNV
Germline

Chr15:89268521

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393740342

rs_2506072089

1 SubmittersRCV003635583

NM_000135.4(FANCA):c.793-2A>G

SNV
Germline

Chr16:89799640

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397473719

rs_2040372065

1 SubmittersRCV003635530

NM_000135.4(FANCA):c.645C>A (p.Cys215Ter)

SNV
Germline

Chr16:89805344

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397478028

rs_1015551647

1 SubmittersRCV003635531

NM_021922.3(FANCE):c.112G>T (p.Glu38Ter)

SNV
Germline

Chr6:35452657

Pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363770214

rs_1581696489

1 SubmittersRCV003621413

NM_001113378.2(FANCI):c.1852C>T (p.Gln618Ter)

SNV
Germline

Chr15:89290243

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393747638

rs_2151689678

1 SubmittersRCV003635587

NM_018062.4(FANCL):c.325C>T (p.Gln109Ter)

SNV
Germline

Chr2:58221991

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347034477

rs_2467426348

1 SubmittersRCV003635618

NM_018062.4(FANCL):c.775+2T>C

SNV
Germline

Chr2:58163432

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA346935862

rs_2466618395

1 SubmittersRCV003635738

NM_000136.3(FANCC):c.66G>A (p.Trp22Ter)

SNV
Germline

Chr9:95249226

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374340411

rs_1195346607

1 SubmittersRCV003635726

NM_001018115.3(FANCD2):c.426T>A (p.Ile142=)

SNV
Germline

Chr3:10035221

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Conflicting Classifications

CA432429164

rs_1365970060

2 SubmittersRCV003635759 RCV005030214

NM_018062.4(FANCL):c.821+1G>A

SNV
Germline

Chr2:58163028

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA346935563

rs_775664760

1 SubmittersRCV003635604

NM_000135.4(FANCA):c.710-1G>A

SNV
Germline

Chr16:89803342

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397476530

rs_1388128874

1 SubmittersRCV003635753

NM_001113378.2(FANCI):c.3058+1G>C

SNV
Germline

Chr15:89303916

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393738847

rs_149464307

1 SubmittersRCV003635811

NM_001113378.2(FANCI):c.1407T>G (p.Tyr469Ter)

SNV
Germline

Chr15:89281195

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393743523

rs_2053602176

1 SubmittersRCV003635858

NM_001018115.3(FANCD2):c.283G>T (p.Glu95Ter)

SNV
Germline

Chr3:10034704

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA70022052

rs_1004943548

1 SubmittersRCV003636450

NM_018062.4(FANCL):c.62C>A (p.Ser21Ter)

SNV
Germline

Chr2:58241252

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347035115

rs_542395849

1 SubmittersRCV003635803

NM_000135.4(FANCA):c.2060T>C (p.Val687Ala)

SNV
Germline

Chr16:89771769

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397448544

rs_1159267877

2 SubmittersRCV003636441 RCV005567599

NM_001018115.3(FANCD2):c.458T>C (p.Leu153Ser)

SNV
Germline

Chr3:10036306

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA2249227

rs_765576835

1 SubmittersRCV003636471

NM_001018115.3(FANCD2):c.1546-1G>A

SNV
Germline

Chr3:10052386

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351739631

rs_2469932773

1 SubmittersRCV003635794

NM_021922.3(FANCE):c.1266C>T (p.Cys422=)

SNV
Germline

Chr6:35459710

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E

Criteria Provided
Conflicting Classifications

CA449943252

rs_1767509933

2 SubmittersRCV003619540

NM_004629.2(FANCG):c.1637-2A>G

SNV
Germline

Chr9:35074496

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373301419

rs_2490393857

1 SubmittersRCV003636525

NM_001113378.2(FANCI):c.2191C>T (p.Gln731Ter)

SNV
Germline

Chr15:89292963

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393749308

rs_1286353775

1 SubmittersRCV003635778

NM_001113378.2(FANCI):c.2889+2T>C

SNV
Germline

Chr15:89300387

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393737554

rs_1357692627

1 SubmittersRCV003635819

NM_001113378.2(FANCI):c.777G>T (p.Val259=)

SNV
Germline

Chr15:89268420

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

CA7722768

rs_760291695

2 SubmittersRCV003636463 RCV005003704

NM_001018115.3(FANCD2):c.361C>T (p.Gln121Ter)

SNV
Germline

Chr3:10034782

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351720869

rs_2470719712

1 SubmittersRCV003636490

NM_022725.4(FANCF):c.667G>T (p.Glu223Ter)

SNV
Germline

Chr11:22625144

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA380058574

rs_1473308846

1 SubmittersRCV003636521

NM_020937.4(FANCM):c.2255C>A (p.Ser752Ter)

SNV
Germline

Chr14:45173149

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389596786

rs_1888447684

1 SubmittersRCV003636635

NM_001018115.3(FANCD2):c.65-1G>T

SNV
Germline

Chr3:10032831

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351717833

rs_1185068065

1 SubmittersRCV003636774

NM_004629.2(FANCG):c.1129A>G (p.Ser377Gly)

SNV
Germline

Chr9:35075976

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA373310024

rs_1829075705

2 SubmittersRCV003636562 RCV005335879

NM_032444.4(SLX4):c.4291G>T (p.Glu1431Ter)

SNV
Germline

Chr16:3589347

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394517437

rs_2548211210

1 SubmittersRCV003636662

NM_001018115.3(FANCD2):c.1134+1G>A

SNV
Germline

Chr3:10043865

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351732171

rs_2469902547

1 SubmittersRCV003636664

NM_021922.3(FANCE):c.1003C>T (p.Gln335Ter)

SNV
Germline

Chr6:35458330

Pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363775095

rs_1767433090

1 SubmittersRCV003620212

NM_032444.4(SLX4):c.2565T>A (p.Tyr855Ter)

SNV
Germline

Chr16:3591073

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394523422

rs_1466044046

1 SubmittersRCV003636729

NM_001113378.2(FANCI):c.2169+1G>A

SNV
Germline

Chr15:89292865

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA7723291

rs_771293885

1 SubmittersRCV003636767

NM_000136.3(FANCC):c.1533+1G>A

SNV
Germline

Chr9:95107065

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374105470

rs_753885687

1 SubmittersRCV003636614

NM_001018115.3(FANCD2):c.2495-2A>G

SNV
Germline

Chr3:10072869

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351741294

rs_1252959923

1 SubmittersRCV003636616

NM_000136.3(FANCC):c.997-14C>A

SNV
Germline

Chr9:95117404

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA589260024

rs_1461258854

2 SubmittersRCV003636619 RCV005047818

NM_018062.4(FANCL):c.31C>T (p.Gln11Ter)

SNV
Germline

Chr2:58241283

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA347035174

rs_1234421819

1 SubmittersRCV003636821

NM_001018115.3(FANCD2):c.2447T>A (p.Leu816Ter)

SNV
Germline

Chr3:10067270

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA351738171

rs_2469975972

2 SubmittersRCV003636717 RCV005037008

NM_000135.4(FANCA):c.1715+1G>A

SNV
Germline

Chr16:89779868

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397455775

rs_1555552506

1 SubmittersRCV003636747

NM_001018115.3(FANCD2):c.4038+2T>G

SNV
Germline

Chr3:10095276

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351757446

rs_2470081305

1 SubmittersRCV003636847

NM_018062.4(FANCL):c.903+1G>T

SNV
Germline

Chr2:58162865

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA346934833

rs_1173663404

1 SubmittersRCV003636848

NM_020937.4(FANCM):c.4501C>T (p.Gln1501Ter)

SNV
Germline

Chr14:45183888

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA7169764

rs_755947203

1 SubmittersRCV003637395

NM_000135.4(FANCA):c.2464C>T (p.Leu822=)

SNV
Germline

Chr16:89769877

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA497379422

rs_2039262153

2 SubmittersRCV003637398 RCV005014936

NM_000135.4(FANCA):c.874C>T (p.His292Tyr)

SNV
Germline

Chr16:89799185

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397472893

rs_200220791

3 SubmittersRCV003636882 RCV005014934 RCV005555032

NM_001018115.3(FANCD2):c.4039-2A>G

SNV
Germline

Chr3:10096324

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351757537

rs_2470086003

1 SubmittersRCV003637545

NM_001018115.3(FANCD2):c.571-2A>G

SNV
Germline

Chr3:10039719

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351724948

rs_2470739404

1 SubmittersRCV003637581

NM_000136.3(FANCC):c.844-1G>A

SNV
Germline

Chr9:95126582

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

CA374109160

rs_774209201

2 SubmittersRCV003636831 RCV004573277

NM_001113378.2(FANCI):c.2476C>T (p.Gln826Ter)

SNV
Germline

Chr15:89294934

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393750641

rs_2507505865

1 SubmittersRCV003637504

NM_000135.4(FANCA):c.3315C>A (p.Cys1105Ter)

SNV
Germline

Chr16:89748692

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397486256

rs_749550737

1 SubmittersRCV003637569

NM_001113378.2(FANCI):c.2169+2T>C

SNV
Germline

Chr15:89292866

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393749250

rs_1417263841

1 SubmittersRCV003637615

NM_032043.3(BRIP1):c.2995A>T (p.Arg999Ter)

SNV
Germline

Chr17:61684051

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400480034

rs_2061323811

1 SubmittersRCV003784649

NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)

SNV
Germline

Chr16:13920313

Pathogenic

Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Single Submitter

CA394816321

rs_2543161364

1 SubmittersRCV003797867

NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)

SNV
Germline

Chr16:13930773

Pathogenic

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome

Criteria Provided
Single Submitter

CA7910293

rs_750971687

1 SubmittersRCV003781269

NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)

SNV
Germline

Chr16:13935308

Pathogenic/Likely pathogenic

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Condition: not provided
XFE progeroid syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Multiple Submitters
No Conflicts

CA7910452

rs_201179693

3 SubmittersRCV003781677 RCV005242434 RCV005014966

NM_032043.3(BRIP1):c.1795-1G>C

SNV
Germline

Chr17:61780402

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400480236

rs_1368457771

2 SubmittersRCV003782596 RCV005402086

NM_032043.3(BRIP1):c.544A>C (p.Asn182His)

SNV
Germline

Chr17:61847184

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400483207

rs_2145744160

2 SubmittersRCV003792914 RCV005537685

NM_032043.3(BRIP1):c.1935+1G>A

SNV
Germline

Chr17:61780260

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA8690634

rs_761015335

1 SubmittersRCV003790472

NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)

SNV
Germline

Chr16:13937856

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
XFE progeroid syndrome

Criteria Provided
Conflicting Classifications

CA7910587

rs_749634352

2 SubmittersRCV003788402 RCV004784178

NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)

SNV
Germline

Chr16:13930803

Pathogenic

Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Single Submitter

CA7910296

rs_753149023

1 SubmittersRCV003792676

NM_032043.3(BRIP1):c.505C>T (p.Gln169Ter)

SNV
Germline

Chr17:61849131

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400484350

rs_2145761347

1 SubmittersRCV003794202

NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)

SNV
Germline

Chr17:61784424

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400481785

rs_2145142389

1 SubmittersRCV003800121

NM_032043.3(BRIP1):c.507+2T>A

SNV
Germline

Chr17:61849127

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400484340

rs_2145761225

1 SubmittersRCV003801073

NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)

SNV
Germline

Chr17:61793666

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400482184

rs_2145242241

1 SubmittersRCV003807024

NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)

SNV
Germline

Chr17:61744587

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400483424

rs_876658270

1 SubmittersRCV003812333

NM_032043.3(BRIP1):c.1794+2T>G

SNV
Germline

Chr17:61780838

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400480240

rs_2545026298

1 SubmittersRCV003810190

NM_032043.3(BRIP1):c.1341-2A>C

SNV
Germline

Chr17:61793731

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482372

rs_2145245448

2 SubmittersRCV003810370 RCV004588507

NM_020937.4(FANCM):c.5530C>T (p.Gln1844Ter)

SNV
Germline

Chr14:45196361

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389586052

rs_2139319836

1 SubmittersRCV003822247

NM_000135.4(FANCA):c.1038G>A (p.Trp346Ter)

SNV
Germline

Chr16:89792516

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397466803

rs_750257902

1 SubmittersRCV003822260

NM_058216.3(RAD51C):c.404+5A>T

SNV
Germline

Chr17:58695194

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2740093811

rs_2509276573

2 SubmittersRCV003823143 RCV005264518

NM_001113378.2(FANCI):c.1381+1G>T

SNV
Germline

Chr15:89278775

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393743413

rs_2506599338

1 SubmittersRCV003828147

NM_020937.4(FANCM):c.3788A>G (p.Tyr1263Cys)

SNV
Germline

Chr14:45176542

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA389603029

rs_2503194575

2 SubmittersRCV003822090 RCV005335936

NM_020937.4(FANCM):c.2678A>G (p.Asp893Gly)

SNV
Germline

Chr14:45175432

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA259627845

rs_1023555775

4 SubmittersRCV003837522 RCV004701846 RCV005335941 RCV005000044

NM_000135.4(FANCA):c.3513+1G>C

SNV
Germline

Chr16:89746583

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397485815

rs_1188082371

1 SubmittersRCV003837647

NM_020937.4(FANCM):c.214A>G (p.Asn72Asp)

SNV
Germline

Chr14:45136245

Conflicting classifications of pathogenicity

Inborn genetic diseases
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA389587420

rs_1269122026

2 SubmittersRCV005335935 RCV003821679

NM_001018113.3(FANCB):c.1759C>G (p.Leu587Val)

SNV
Germline

ChrX:14845024

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10353004

rs_748958265

2 SubmittersRCV003835525 RCV004366844

NM_001018115.3(FANCD2):c.3889-1G>A

SNV
Germline

Chr3:10094288

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351756423

rs_2470076248

1 SubmittersRCV003841064

NM_018062.4(FANCL):c.616G>T (p.Glu206Ter)

SNV
Germline

Chr2:58165799

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA346937346

rs_1035067325

1 SubmittersRCV003858041

NM_000135.4(FANCA):c.3766-1G>A

SNV
Germline

Chr16:89740867

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397485260

rs_2544095343

1 SubmittersRCV003846852

NM_001113378.2(FANCI):c.2062G>T (p.Gly688Ter)

SNV
Germline

Chr15:89292757

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393749001

rs_1037643863

1 SubmittersRCV003847322

NM_032444.4(SLX4):c.39C>G (p.Tyr13Ter)

SNV
Germline

Chr16:3608926

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA394548087

rs_1346974204

1 SubmittersRCV003855823

NM_001018115.3(FANCD2):c.1947+1G>A

SNV
Germline

Chr3:10063912

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351730549

rs_756475711

1 SubmittersRCV003859306

NM_000135.4(FANCA):c.1566+1G>T

SNV
Germline

Chr16:89783006

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397458044

rs_2544243344

1 SubmittersRCV003859725

NM_000136.3(FANCC):c.165+1G>A

SNV
Germline

Chr9:95249126

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374340181

rs_794726668

1 SubmittersRCV003864208

NM_001018115.3(FANCD2):c.2116C>T (p.Gln706Ter)

SNV
Germline

Chr3:10064823

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351733477

rs_147532349

1 SubmittersRCV003868326

NM_021922.3(FANCE):c.1363C>T (p.Gln455Ter)

SNV
Germline

Chr6:35460598

Pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363777776

rs_2150898479

1 SubmittersRCV003861758

NM_000135.4(FANCA):c.3715G>T (p.Glu1239Ter)

SNV
Germline

Chr16:89742850

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397485378

rs_2143061441

1 SubmittersRCV003861759

NM_020937.4(FANCM):c.5815G>T (p.Glu1939Ter)

SNV
Germline

Chr14:45198742

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389586902

rs_2503280177

1 SubmittersRCV003853698

NM_001113378.2(FANCI):c.2637-1G>C

SNV
Germline

Chr15:89299799

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393736453

rs_1198815779

1 SubmittersRCV003853996

NM_001113378.2(FANCI):c.85-1G>T

SNV
Germline

Chr15:89258703

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

CA393737306

rs_1195350202

2 SubmittersRCV003851607 RCV004573366

NM_001018115.3(FANCD2):c.3849+1G>A

SNV
Germline

Chr3:10092253

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA351755873

rs_2125086228

1 SubmittersRCV003860382

NM_032444.4(SLX4):c.1239G>A (p.Val413=)

SNV
Germline

Chr16:3597924

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866579

rs_374755757

2 SubmittersRCV003877715 RCV005015063

NM_004629.2(FANCG):c.1603C>T (p.Gln535Ter)

SNV
Germline

Chr9:35074960

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373303661

rs_1235403176

1 SubmittersRCV003875893

NM_000135.4(FANCA):c.3626+2T>G

SNV
Germline

Chr16:89744957

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA397485563

rs_2544113550

1 SubmittersRCV003878196

NM_001113378.2(FANCI):c.1593T>C (p.Asp531=)

SNV
Germline

Chr15:89283145

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA492077006

rs_753512282

2 SubmittersRCV003874646 RCV004767504

NM_022725.4(FANCF):c.365G>C (p.Arg122Pro)

SNV
Germline

Chr11:22625446

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5924357

rs_773334179

2 SubmittersRCV003874704 RCV005567701

NM_004629.2(FANCG):c.84+1G>A

SNV
Germline

Chr9:35079440

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA373315852

rs_1829144030

1 SubmittersRCV003867603

NM_021922.3(FANCE):c.914T>A (p.Leu305Ter)

SNV
Germline

Chr6:35457929

Pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

CA363774895

rs_2533669319

1 SubmittersRCV003872191

NM_020937.4(FANCM):c.3975T>G (p.Tyr1325Ter)

SNV
Germline

Chr14:45176729

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA259628599

rs_1030580842

1 SubmittersRCV003870991

NM_000136.3(FANCC):c.1228C>T (p.Gln410Ter)

SNV
Germline

Chr9:95111564

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374107422

rs_2134549944

1 SubmittersRCV003879434

NM_020937.4(FANCM):c.2076T>A (p.Tyr692Ter)

SNV
Germline

Chr14:45170662

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA389596047

rs_2503163014

1 SubmittersRCV003879688

NM_001113378.2(FANCI):c.2614C>T (p.Gln872Ter)

SNV
Germline

Chr15:89295072

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA393751112

rs_1368909419

1 SubmittersRCV003864651

NM_000135.4(FANCA):c.1007-1G>A

SNV
Germline

Chr16:89792548

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

CA397467112

rs_2544276097

2 SubmittersRCV003876477 RCV005015068

NM_001018115.3(FANCD2):c.1867C>T (p.Gln623Ter)

SNV
Germline

Chr3:10063831

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA2249856

rs_758475123

1 SubmittersRCV003880706

NM_001113378.2(FANCI):c.3645C>G (p.Tyr1215Ter)

SNV
Germline

Chr15:89307666

Likely pathogenic

FANCI-related disorder
Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA7723798

rs_760364969

2 SubmittersRCV003899683 RCV004573418

NM_032043.3(BRIP1):c.2258-2A>G

SNV
Germline

Chr17:61743136

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA400482772

rs_2144680456

1 SubmittersRCV004018178

NM_000135.4(FANCA):c.3348+1G>T

SNV
Germline

Chr16:89748658

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA286625314

rs_751266148

1 SubmittersRCV004018184

NM_001018115.3(FANCD2):c.1278+1G>T

SNV
Germline

Chr3:10046724

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA090945

rs_146316187

1 SubmittersRCV004018327

NM_058216.3(RAD51C):c.289C>T (p.Gln97Ter)

SNV
Germline

Chr17:58695074

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA400340887

rs_1567786232

2 SubmittersRCV004440027 RCV005104631

NM_058216.3(RAD51C):c.238G>T (p.Glu80Ter)

SNV
Germline

Chr17:58695023

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA400340278

rs_1413186293

2 SubmittersRCV004440241 RCV005104632

NM_000135.4(FANCA):c.3491C>G (p.Pro1164Arg)

SNV
Germline

Chr16:89746606

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA397485859

rs_2038399117

2 SubmittersRCV004527224 RCV005006438

NM_000135.4(FANCA):c.2680A>T (p.Arg894Ter)

SNV
Germline

Chr16:89764988

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

CA397438473

rs_2544178386

1 SubmittersRCV004547230

NM_032444.4(SLX4):c.838G>T (p.Gly280Ter)

SNV
Germline

Chr16:3602230

Likely pathogenic

Fanconi anemia complementation group P

Criteria Provided
Single Submitter

CA394532393

rs_2548222345

1 SubmittersRCV004554987

NM_000135.4(FANCA):c.893+2T>A

SNV
Germline

Chr16:89799164

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_2544302863

1 SubmittersRCV004557238

NM_000135.4(FANCA):c.1340C>A (p.Ser447Ter)

SNV
Unknown

Chr16:89791422

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_149551759

1 SubmittersRCV004576515

NM_000135.4(FANCA):c.2981+1G>T

SNV
Unknown

Chr16:89758576

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_1555542860

1 SubmittersRCV004576521

NM_000135.4(FANCA):c.3703C>T (p.Gln1235Ter)

SNV
Unknown

Chr16:89742862

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_769919783

1 SubmittersRCV004576522

NM_000135.4(FANCA):c.2223-2A>T

SNV
Unknown

Chr16:89770261

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_1255001518

1 SubmittersRCV004576523

NM_000135.4(FANCA):c.2909C>A (p.Ser970Ter)

SNV
Unknown

Chr16:89758649

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_2544156828

1 SubmittersRCV004576524

NM_000135.4(FANCA):c.3919C>T (p.Gln1307Ter)

SNV
Germline

Chr16:89740009

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

rs_763626782

2 SubmittersRCV004576526

NM_000135.4(FANCA):c.976C>T (p.Gln326Ter)

SNV
Unknown

Chr16:89795936

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_758641682

1 SubmittersRCV004576528

NM_000135.4(FANCA):c.3627-2A>G

SNV
Germline

Chr16:89742940

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2544106209

2 SubmittersRCV004576529

NM_000135.4(FANCA):c.427-1G>A

SNV
Unknown

Chr16:89810803

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_2544362904

1 SubmittersRCV004576535

NM_001018113.3(FANCB):c.1570C>T (p.Gln524Ter)

SNV
Unknown

ChrX:14845213

Likely pathogenic

Fanconi anemia complementation group B

Criteria Provided
Single Submitter

rs_370248837

1 SubmittersRCV004576536

NM_000136.3(FANCC):c.1073-2A>G

SNV
Unknown

Chr9:95114712

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

rs_2540949591

1 SubmittersRCV004576538

NM_001018115.3(FANCD2):c.3952A>T (p.Arg1318Ter)

SNV
Unknown

Chr3:10094352

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

rs_2470076599

1 SubmittersRCV004576541

NM_001018115.3(FANCD2):c.1710C>G (p.Tyr570Ter)

SNV
Unknown

Chr3:10060347

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

rs_2125026697

1 SubmittersRCV004576542

NM_001018115.3(FANCD2):c.2672C>A (p.Ser891Ter)

SNV
Unknown

Chr3:10073319

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

rs_768907834

1 SubmittersRCV004576543

NM_001018115.3(FANCD2):c.1243C>T (p.Gln415Ter)

SNV
Unknown

Chr3:10046688

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

rs_2125000516

1 SubmittersRCV004576544

NM_001018115.3(FANCD2):c.2860-2A>G

SNV
Unknown

Chr3:10078079

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

rs_2470005127

1 SubmittersRCV004576546

NM_001018115.3(FANCD2):c.3238C>T (p.Gln1080Ter)

SNV
Germline

Chr3:10085825

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1411877055

2 SubmittersRCV004576547 RCV005101928

NM_001018115.3(FANCD2):c.3335+1G>A

SNV
Unknown

Chr3:10085923

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

rs_2470034920

1 SubmittersRCV004576549

NM_001018115.3(FANCD2):c.695+2T>G

SNV
Unknown

Chr3:10039847

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

rs_2470740571

1 SubmittersRCV004576550

NM_001018115.3(FANCD2):c.1948-2A>G

SNV
Unknown

Chr3:10064354

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

rs_2469966681

1 SubmittersRCV004576551

NM_001018115.3(FANCD2):c.4045C>T (p.Gln1349Ter)

SNV
Unknown

Chr3:10096332

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

rs_2125095183

1 SubmittersRCV004576552

NM_001018115.3(FANCD2):c.458T>G (p.Leu153Ter)

SNV
Unknown

Chr3:10036306

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

rs_765576835

1 SubmittersRCV004576553

NM_001018115.3(FANCD2):c.2021+1G>T

SNV
Unknown

Chr3:10064430

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

rs_2125034187

1 SubmittersRCV004576555

NM_001018115.3(FANCD2):c.377+2T>C

SNV
Unknown

Chr3:10034800

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

rs_2470719792

1 SubmittersRCV004576557

NM_001018115.3(FANCD2):c.990-2A>G

SNV
Unknown

Chr3:10043482

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

rs_2470758145

1 SubmittersRCV004576559

NM_001018115.3(FANCD2):c.3313C>T (p.Gln1105Ter)

SNV
Unknown

Chr3:10085900

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

rs_1694168766

1 SubmittersRCV004576561

NM_021922.3(FANCE):c.988C>T (p.Gln330Ter)

SNV
Unknown

Chr6:35458315

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

rs_1263409404

1 SubmittersRCV004576562

NM_021922.3(FANCE):c.1300C>T (p.Gln434Ter)

SNV
Unknown

Chr6:35459744

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

rs_2533681022

1 SubmittersRCV004576563

NM_021922.3(FANCE):c.248+1G>C

SNV
Unknown

Chr6:35452794

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

rs_1480350743

1 SubmittersRCV004576564

NM_022725.4(FANCF):c.379G>T (p.Glu127Ter)

SNV
Unknown

Chr11:22625432

Likely pathogenic

Fanconi anemia complementation group F

Criteria Provided
Single Submitter

rs_1277670335

1 SubmittersRCV004576565

NM_022725.4(FANCF):c.78G>A (p.Trp26Ter)

SNV
Unknown

Chr11:22625733

Likely pathogenic

Fanconi anemia complementation group F

Criteria Provided
Single Submitter

rs_764519472

1 SubmittersRCV004576566

NM_022725.4(FANCF):c.235G>T (p.Gly79Ter)

SNV
Unknown

Chr11:22625576

Likely pathogenic

Fanconi anemia complementation group F

Criteria Provided
Single Submitter

rs_1458424462

1 SubmittersRCV004576568

NM_022725.4(FANCF):c.1018G>T (p.Glu340Ter)

SNV
Unknown

Chr11:22624793

Likely pathogenic

Fanconi anemia complementation group F

Criteria Provided
Single Submitter

rs_2494859893

1 SubmittersRCV004576570

NM_004629.2(FANCG):c.511-1G>T

SNV
Unknown

Chr9:35077400

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

rs_1563986833

1 SubmittersRCV004576576

NM_004629.2(FANCG):c.942C>A (p.Cys314Ter)

SNV
Unknown

Chr9:35076566

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

rs_2131055534

1 SubmittersRCV004576578

NM_001113378.2(FANCI):c.3805A>T (p.Lys1269Ter)

SNV
Unknown

Chr15:89314696

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

rs_2509016412

1 SubmittersRCV004576589

NM_001113378.2(FANCI):c.3829C>T (p.Gln1277Ter)

SNV
Unknown

Chr15:89315294

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

rs_2509077600

1 SubmittersRCV004576591

NM_001113378.2(FANCI):c.289-2A>G

SNV
Unknown

Chr15:89261583

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

rs_2505904065

1 SubmittersRCV004576592

NM_018062.4(FANCL):c.1092+1G>T

SNV
Unknown

Chr2:58160107

Likely pathogenic

Fanconi anemia complementation group L

Criteria Provided
Single Submitter

rs_2466546655

1 SubmittersRCV004576597

NM_000136.3(FANCC):c.250+1G>T

SNV
Germline

Chr9:95247431

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

1 SubmittersRCV004690524

NM_000135.4(FANCA):c.523-1G>C

SNV
Germline

Chr16:89808368

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV004764305

NM_001113378.2(FANCI):c.545+1G>T

SNV
Germline

Chr15:89263461

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

1 SubmittersRCV004785885

NM_032043.3(BRIP1):c.1795-5T>C

SNV
Germline

Chr17:61780406

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004788907 RCV005323667 RCV005218323

NM_000135.4(FANCA):c.3494T>G (p.Leu1165Ter)

SNV
Germline

Chr16:89746603

Pathogenic

Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004800177

NM_058216.3(RAD51C):c.107A>C (p.Glu36Ala)

SNV
Germline

Chr17:58692750

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004943620 RCV005107777

NM_032444.4(SLX4):c.4541G>A (p.Trp1514Ter)

SNV
Germline

Chr16:3589097

Likely pathogenic

Fanconi anemia complementation group P

Criteria Provided
Single Submitter

1 SubmittersRCV005007755

NM_032444.4(SLX4):c.2848G>T (p.Glu950Ter)

SNV
Germline

Chr16:3590790

Likely pathogenic

Fanconi anemia complementation group P

Criteria Provided
Single Submitter

1 SubmittersRCV005007775

NM_032444.4(SLX4):c.2424C>A (p.Cys808Ter)

SNV
Germline

Chr16:3591214

Likely pathogenic

Fanconi anemia complementation group P

Criteria Provided
Single Submitter

1 SubmittersRCV005007781

NM_032444.4(SLX4):c.634C>T (p.Arg212Ter)

SNV
Germline

Chr16:3606600

Likely pathogenic

Fanconi anemia complementation group P

Criteria Provided
Single Submitter

1 SubmittersRCV005015355

NM_007294.4(BRCA1):c.4459A>T (p.Lys1487Ter)

SNV
Germline

Chr17:43076513

Pathogenic

Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005020353

NM_005236.3(ERCC4):c.388+1G>A

SNV
Germline

Chr16:13922212

Likely pathogenic

XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

1 SubmittersRCV005017636

NM_005236.3(ERCC4):c.971C>G (p.Ser324Ter)

SNV
Germline

Chr16:13930888

Likely pathogenic

XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

1 SubmittersRCV005017640

NM_005236.3(ERCC4):c.1349G>A (p.Trp450Ter)

SNV
Germline

Chr16:13935281

Pathogenic

XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

1 SubmittersRCV005017641

NM_000135.4(FANCA):c.3563A>G (p.His1188Arg)

SNV
Germline

Chr16:89745022

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005017913 RCV005336028

NM_000135.4(FANCA):c.3348+2T>C

SNV
Germline

Chr16:89748657

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005010088

NM_000135.4(FANCA):c.2852+1G>A

SNV
Germline

Chr16:89761948

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005017939

NM_000135.4(FANCA):c.2852G>T (p.Arg951Leu)

SNV
Germline

Chr16:89761949

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005017940

NM_000135.4(FANCA):c.2787C>G (p.Tyr929Ter)

SNV
Germline

Chr16:89762014

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005017943

NM_000135.4(FANCA):c.2778+65C>T

SNV
Germline

Chr16:89764825

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005017944 RCV005435477

NM_000135.4(FANCA):c.2335C>T (p.Pro779Ser)

SNV
Germline

Chr16:89770006

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005017959 RCV005336032

NM_000135.4(FANCA):c.2074G>T (p.Glu692Ter)

SNV
Germline

Chr16:89771755

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005017969

NM_000135.4(FANCA):c.1901-1G>T

SNV
Germline

Chr16:89773385

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005017974

NM_000135.4(FANCA):c.1715+2T>G

SNV
Germline

Chr16:89779867

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005017984

NM_000135.4(FANCA):c.1471-2A>G

SNV
Germline

Chr16:89783104

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005017991

NM_000135.4(FANCA):c.1084-1G>C

SNV
Germline

Chr16:89792069

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005018005

NM_000135.4(FANCA):c.538G>T (p.Glu180Ter)

SNV
Germline

Chr16:89808352

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005018018

NM_000135.4(FANCA):c.338C>G (p.Ser113Ter)

SNV
Germline

Chr16:89811017

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005010099

NM_000135.4(FANCA):c.215T>A (p.Leu72Ter)

SNV
Germline

Chr16:89814588

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005010103

NM_000135.4(FANCA):c.133G>T (p.Glu45Ter)

SNV
Germline

Chr16:89815933

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005010107

NM_000135.4(FANCA):c.37C>T (p.Gln13Ter)

SNV
Germline

Chr16:89816579

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005010111

NM_018062.4(FANCL):c.1021-2A>T

SNV
Germline

Chr2:58160181

Likely pathogenic

Fanconi anemia complementation group L

Criteria Provided
Single Submitter

1 SubmittersRCV005026647

NM_018062.4(FANCL):c.374+1G>A

SNV
Germline

Chr2:58221941

Likely pathogenic

Fanconi anemia complementation group L

Criteria Provided
Single Submitter

1 SubmittersRCV005026663

NM_018062.4(FANCL):c.284T>A (p.Leu95Ter)

SNV
Germline

Chr2:58222032

Likely pathogenic

Fanconi anemia complementation group L

Criteria Provided
Single Submitter

1 SubmittersRCV005026664

NM_018062.4(FANCL):c.156-2A>T

SNV
Germline

Chr2:58229876

Likely pathogenic

Fanconi anemia complementation group L

Criteria Provided
Single Submitter

1 SubmittersRCV005032366

NM_018062.4(FANCL):c.139C>T (p.Gln47Ter)

SNV
Germline

Chr2:58232070

Likely pathogenic

Fanconi anemia complementation group L

Criteria Provided
Single Submitter

1 SubmittersRCV005032367

NM_001113378.2(FANCI):c.220C>T (p.Gln74Ter)

SNV
Germline

Chr15:89260775

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

1 SubmittersRCV005003238

NM_001113378.2(FANCI):c.1381+1G>A

SNV
Germline

Chr15:89278775

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

1 SubmittersRCV005003254

NM_001113378.2(FANCI):c.1789C>T (p.Gln597Ter)

SNV
Germline

Chr15:89285186

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

1 SubmittersRCV005012077

NM_001113378.2(FANCI):c.1888C>T (p.Gln630Ter)

SNV
Germline

Chr15:89290279

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

1 SubmittersRCV005003263

NM_001113378.2(FANCI):c.2331T>A (p.Cys777Ter)

SNV
Germline

Chr15:89293872

Pathogenic/Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005012089 RCV005061868

NM_001113378.2(FANCI):c.3352G>T (p.Glu1118Ter)

SNV
Germline

Chr15:89306009

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

1 SubmittersRCV005003285

NM_001113378.2(FANCI):c.3721-19T>G

SNV
Germline

Chr15:89314593

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005003289 RCV005112596

NM_001113378.2(FANCI):c.3816+2T>C

SNV
Germline

Chr15:89314709

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

1 SubmittersRCV005003294

NM_000136.3(FANCC):c.1096C>T (p.Gln366Ter)

SNV
Germline

Chr9:95114687

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

1 SubmittersRCV005048757

NM_000136.3(FANCC):c.634C>T (p.Gln212Ter)

SNV
Germline

Chr9:95149975

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

1 SubmittersRCV005048763

NM_022725.4(FANCF):c.337C>T (p.Gln113Ter)

SNV
Germline

Chr11:22625474

Likely pathogenic

Fanconi anemia complementation group F

Criteria Provided
Single Submitter

1 SubmittersRCV005046697

NM_022725.4(FANCF):c.250C>T (p.Gln84Ter)

SNV
Germline

Chr11:22625561

Likely pathogenic

Fanconi anemia complementation group F

Criteria Provided
Single Submitter

1 SubmittersRCV005046701

NM_004629.2(FANCG):c.1653C>A (p.Tyr551Ter)

SNV
Germline

Chr9:35074478

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

1 SubmittersRCV005049103

NM_004629.2(FANCG):c.1493A>G (p.Asn498Ser)

SNV
Germline

Chr9:35075070

Conflicting classifications of pathogenicity

Fanconi anemia complementation group G
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005048342 RCV005567811

NM_004629.2(FANCG):c.510+3A>G

SNV
Germline

Chr9:35078138

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

1 SubmittersRCV005048360

NM_001018115.3(FANCD2):c.3778-1G>A

SNV
Germline

Chr3:10092180

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

1 SubmittersRCV005031002

NM_021922.3(FANCE):c.659T>G (p.Leu220Ter)

SNV
Germline

Chr6:35456157

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

1 SubmittersRCV005039704

NM_001018115.3(FANCD2):c.23C>A (p.Ser8Ter)

SNV
Germline

Chr3:10028680

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

1 SubmittersRCV005030937

NM_001018115.3(FANCD2):c.1132A>T (p.Lys378Ter)

SNV
Germline

Chr3:10043862

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

1 SubmittersRCV005030960

NM_001018115.3(FANCD2):c.2270-1G>A

SNV
Germline

Chr3:10065863

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

1 SubmittersRCV005030976

NM_020937.4(FANCM):c.5358G>A (p.Glu1786=)

SNV
Germline

Chr14:45196189

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004999026 RCV005112505

NM_000135.4(FANCA):c.105T>G (p.Tyr35Ter)

SNV
Germline

Chr16:89815961

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005073137

NM_001018115.3(FANCD2):c.2386-2A>G

SNV
Germline

Chr3:10067207

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005073889

NM_001113378.2(FANCI):c.64C>T (p.Gln22Ter)

SNV
Germline

Chr15:89247711

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005072789

NM_001113378.2(FANCI):c.3772G>T (p.Glu1258Ter)

SNV
Germline

Chr15:89314663

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005069011

NM_001113378.2(FANCI):c.2164G>T (p.Glu722Ter)

SNV
Germline

Chr15:89292859

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005071225

NM_032444.4(SLX4):c.19G>T (p.Glu7Ter)

SNV
Germline

Chr16:3608946

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005085937

NM_001018115.3(FANCD2):c.3224G>A (p.Trp1075Ter)

SNV
Germline

Chr3:10081464

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005078255

NM_018062.4(FANCL):c.904-2A>G

SNV
Germline

Chr2:58161640

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005085236

NM_020937.4(FANCM):c.5340+1G>A

SNV
Germline

Chr14:45189363

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005119278

NM_001113378.2(FANCI):c.3591+1G>C

SNV
Germline

Chr15:89307530

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005108251

NM_001018115.3(FANCD2):c.2168+2T>C

SNV
Germline

Chr3:10064877

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005114575

NM_000135.4(FANCA):c.1197C>A (p.Cys399Ter)

SNV
Germline

Chr16:89791955

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

2 SubmittersRCV005122809

NM_001018115.3(FANCD2):c.592C>T (p.Gln198Ter)

SNV
Germline

Chr3:10039742

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005120048

NM_021922.3(FANCE):c.1316+1G>T

SNV
Germline

Chr6:35459761

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

1 SubmittersRCV005132424

NM_000136.3(FANCC):c.991A>T (p.Lys331Ter)

SNV
Germline

Chr9:95125091

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005126101

NM_032444.4(SLX4):c.2699G>A (p.Trp900Ter)

SNV
Germline

Chr16:3590939

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005121924

NM_001018115.3(FANCD2):c.377+1G>A

SNV
Germline

Chr3:10034799

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005133412

NM_020937.4(FANCM):c.2320G>T (p.Glu774Ter)

SNV
Germline

Chr14:45175074

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005141992

NM_004629.2(FANCG):c.289C>T (p.Gln97Ter)

SNV
Germline

Chr9:35078623

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005150694

NM_000135.4(FANCA):c.1716-1G>A

SNV
Germline

Chr16:89779004

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005159919

NM_004629.2(FANCG):c.584T>A (p.Leu195Ter)

SNV
Germline

Chr9:35077326

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005159069

NM_001113378.2(FANCI):c.2714C>G (p.Ser905Ter)

SNV
Germline

Chr15:89299877

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005165885

NM_001018115.3(FANCD2):c.3561-1G>A

SNV
Germline

Chr3:10088827

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005173468

NM_032444.4(SLX4):c.1037T>G (p.Leu346Ter)

SNV
Germline

Chr16:3601105

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005169768

NM_058216.3(RAD51C):c.571+1G>C

SNV
Germline

Chr17:58696860

Likely pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

1 SubmittersRCV005177486

NM_001113378.2(FANCI):c.1324G>T (p.Glu442Ter)

SNV
Germline

Chr15:89278717

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005172435

NM_032444.4(SLX4):c.2161-1G>A

SNV
Germline

Chr16:3592866

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005183437

NM_001113378.2(FANCI):c.3591+1G>A

SNV
Germline

Chr15:89307530

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005188131

NM_000135.4(FANCA):c.1827-1G>T

SNV
Germline

Chr16:89775816

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005202283

NM_001113378.2(FANCI):c.1822-2A>C

SNV
Germline

Chr15:89290211

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005203504

NM_020937.4(FANCM):c.601G>T (p.Gly201Ter)

SNV
Germline

Chr14:45137161

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005207684

NM_000135.4(FANCA):c.3673C>G (p.Leu1225Val)

SNV
Germline

Chr16:89742892

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005197847 RCV005559915

NM_004629.2(FANCG):c.1133C>A (p.Ser378Ter)

SNV
Germline

Chr9:35075972

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005208055

NM_032043.3(BRIP1):c.2213T>A (p.Leu738Ter)

SNV
Germline

Chr17:61744476

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005223839

NM_032043.3(BRIP1):c.2251G>T (p.Glu751Ter)

SNV
Germline

Chr17:61744438

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005215478

NM_032043.3(BRIP1):c.2451T>A (p.Tyr817Ter)

SNV
Germline

Chr17:61715992

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005212971

NM_005236.3(ERCC4):c.792+1G>A

SNV
Germline

Chr16:13928236

Likely pathogenic

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

1 SubmittersRCV005215661

NM_005236.3(ERCC4):c.891T>G (p.Tyr297Ter)

SNV
Germline

Chr16:13930808

Pathogenic

Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Single Submitter

1 SubmittersRCV005210613

NM_032043.3(BRIP1):c.1195G>T (p.Glu399Ter)

SNV
Germline

Chr17:61799245

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005214870 RCV005358259

NM_032043.3(BRIP1):c.2098-2A>T

SNV
Germline

Chr17:61744593

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005212812

NM_032043.3(BRIP1):c.205+1G>A

SNV
Germline

Chr17:61859795

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005226394

NM_032043.3(BRIP1):c.1795-3T>G

SNV
Germline

Chr17:61780404

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005537841 RCV005224056

NM_000135.4(FANCA):c.2223-138A>G

SNV
Germline

Chr16:89770397

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005237062

NM_000135.4(FANCA):c.619G>T (p.Gly207Ter)

SNV
Germline

Chr16:89805370

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005238284

NM_000135.4(FANCA):c.1464C>A (p.Tyr488Ter)

SNV
Germline

Chr16:89784860

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV005240184

NM_032444.4(SLX4):c.3601C>T (p.Gln1201Ter)

SNV
Germline

Chr16:3590037

Pathogenic

Fanconi anemia complementation group P

Criteria Provided
Single Submitter

1 SubmittersRCV005252295

NM_000135.4(FANCA):c.2888T>C (p.Phe963Ser)

SNV
Germline

Chr16:89758670

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV005416812

NM_001018115.3(FANCD2):c.205+2T>A

SNV
Germline

Chr3:10032974

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

1 SubmittersRCV005430839

NM_002875.5(RAD51):c.881A>G (p.His294Arg)

SNV
Germline

Chr15:40729959

Likely pathogenic

Fanconi anemia complementation group R

Criteria Provided
Single Submitter

1 SubmittersRCV005430843

NM_000135.4(FANCA):c.596+1G>T

SNV
Germline

Chr16:89808293

Likely pathogenic

Fanconi anemia

No Assertion Criteria Provided

1 SubmittersRCV005613572

NM_000135.4(FANCA):c.2470T>C (p.Cys824Arg)

SNV
Germline

Chr16:89769871

Likely pathogenic

Fanconi anemia

No Assertion Criteria Provided

1 SubmittersRCV005619772