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	Pathogenic	Fanconi anemia complementation group I	Criteria Provided Single Submitter	CA251642	rs_121918163	3 SubmittersRCV000001023
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)	SNV Germline	Chr15:89315318	Pathogenic	Fanconi anemia complementation group I Condition: not provided Fanconi anemia FANCI-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA251645	rs_121918164	9 SubmittersRCV000001024 RCV000584965 RCV001384910 RCV004754232
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	Criteria Provided Multiple Submitters No Conflicts	CA251717	rs_118203997	12 SubmittersRCV000001302 RCV000217204 RCV000235772 RCV000476387
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	SNV Germline	Chr16:23603471	Pathogenic/Likely pathogenic	Fanconi anemia complementation group N Breast cancer, susceptibility to Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Condition: not provided Pancreatic cancer, susceptibility to, 3 PALB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA151250	rs_118203998	23 SubmittersRCV000001304 RCV000001305 RCV000114634 RCV000121742 RCV000129158 RCV000212830 RCV001355428 RCV004528063
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)	SNV Germline	Chr16:23623003	Pathogenic	Fanconi anemia complementation group N Breast cancer, susceptibility to Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA164468	rs_118203999	9 SubmittersRCV000001306 RCV000001307 RCV000129469 RCV000662710 RCV000657596
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 Ovarian neoplasm Condition: not provided BRIP1-related disorder Familial cancer of breast Malignant tumor of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA117038	rs_28903098	31 SubmittersRCV000005002 RCV000116124 RCV000200979 RCV000199377 RCV000409748 RCV000410864 RCV000587908 RCV000778130 RCV000990044 RCV001090025 RCV003149563
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	SNV Germline	Chr17:61716051	Pathogenic/Likely pathogenic	Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Ovarian neoplasm Condition: not provided Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia Breast cancer, early-onset Fanconi anemia complementation group J Tracheoesophageal fistula Familial cancer of breast BRIP1-related disorder Familial cancer of breast Fanconi anemia complementation group J BRIP1-related disorder Malignant tumor of breast Breast and/or ovarian cancer Ovarian cancer Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA253268	rs_137852986	39 SubmittersRCV000005004 RCV000116139 RCV000409918 RCV000212324 RCV000205436 RCV000312325 RCV000504276 RCV000515368 RCV000778127 RCV000989994 RCV001535465 RCV001355458 RCV003149564 RCV003155909 RCV003162209
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	6 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 Condition: not provided FANCG-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340606	rs_149616199	10 SubmittersRCV000007109 RCV000630837 RCV001564939 RCV004748504
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)	SNV Germline	Chr17:58709926	Pathogenic/Likely pathogenic	Fanconi anemia complementation group O Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 3	Criteria Provided Multiple Submitters No Conflicts	CA168628	rs_267606997	12 SubmittersRCV000007224 RCV000131703 RCV000506412 RCV001194260 RCV003315500
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 Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118528	rs_267606999	11 SubmittersRCV000007227 RCV000129800 RCV000648269 RCV000662981 RCV001195017
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 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA025134	rs_80358979	11 SubmittersRCV000009936 RCV000113772 RCV000509658 RCV000478444 RCV001290186
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 Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Malignant tumor of breast Familial cancer of breast BRCA2-related cancer predisposition	Reviewed By Expert Panel	CA026028	rs_80359180	23 SubmittersRCV000009941 RCV000077463 RCV000131052 RCV000235644 RCV000257912 RCV000210196 RCV001357808 RCV003460449 RCV004802932
NM_000059.4(BRCA2):c.631+1G>A	SNV Germline	Chr13:32326614	Pathogenic/Likely pathogenic	Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome 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 cancer-predisposing syndrome Hereditary breast ovarian cancer 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	22 SubmittersRCV000009943 RCV000031615 RCV000044897 RCV000129071 RCV000195357 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		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 complementation group D2 Fanconi anemia	Criteria Provided Multiple Submitters No Conflicts	CA256197	rs_121917787	6 SubmittersRCV000012820 RCV000809924
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	15 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 Fanconi anemia Hereditary cancer-predisposing syndrome Malignant tumor of breast FANCC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA287223	rs_121917783	13 SubmittersRCV000012824 RCV000115356 RCV000471314 RCV000568180 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/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	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	19 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 Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Condition: not provided XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q XFE progeroid syndrome Hutchinson-Gilford syndrome Breast carcinoma Carcinoma of pancreas Fanconi anemia complementation group Q Xeroderma pigmentosum ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA126686	rs_121913049	23 SubmittersRCV000018048 RCV000120808 RCV000467658 RCV000415873 RCV000768209 RCV000766208 RCV001034542 RCV001262417 RCV001391196 RCV001787804 RCV002257360 RCV003924841
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	SNV Germline/somatic	Chr17:43106487	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Breast carcinoma Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast neoplasm Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Ovarian neoplasm BRCA1-related cancer predisposition Condition: not provided	Reviewed By Expert Panel	CA001182	rs_28897672	59 SubmittersRCV000019229 RCV000239114 RCV000415051 RCV001270967 RCV000047597 RCV000131902 RCV000412714 RCV000763010 RCV000785199 RCV004802937 RCV000159935
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)	SNV Germline	Chr17:43082434	Pathogenic	not specified Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Malignant tumor of breast BRCA1-related cancer predisposition Familial cancer of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Condition: not provided	Reviewed By Expert Panel	CA002769	rs_41293455	48 SubmittersRCV000239083 RCV000019244 RCV000131880 RCV000763000 RCV001353404 RCV004802942 RCV000159989 RCV000735445 RCV000048523 RCV000235131
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)	SNV Germline/somatic	Chr17:43106457	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified BRCA1-related cancer predisposition Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Hereditary cancer-predisposing syndrome BRCA1-related disorder	Reviewed By Expert Panel	CA001398	rs_80357382	33 SubmittersRCV000019263 RCV000195359 RCV000469732 RCV000508177 RCV004802945 RCV000047713 RCV000763009 RCV000131899 RCV004758595
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 not specified Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group J Familial cancer of breast Diffuse intrinsic pontine glioma Hereditary breast ovarian cancer syndrome Familial cancer of breast BRIP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA157735	rs_149364097	15 SubmittersRCV000023492 RCV000120412 RCV000131544 RCV000216316 RCV000466014 RCV000761010 RCV002271374 RCV003335053 RCV004528133
NM_032444.4(SLX4):c.1163+2T>A	SNV Germline	Chr16:3600977	Pathogenic	Fanconi anemia complementation group P	No Assertion Criteria Provided		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		rs_1569083185	2 SubmittersRCV000030703
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 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA000895	rs_80358158	20 SubmittersRCV000030985 RCV000047435 RCV000131843 RCV000236913 RCV001358046 RCV002504838 RCV004566758
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)	SNV Germline	Chr17:43093844	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer Ovarian neoplasm Breast carcinoma Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Familial cancer of breast Breast and/or ovarian cancer Familial cancer of breast Ovarian neoplasm Endometrial carcinoma BRCA1-related disorder BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA001106	rs_80356898	52 SubmittersRCV000031007 RCV000047559 RCV000131897 RCV000159956 RCV000238721 RCV000415155 RCV000763006 RCV000770747 RCV000786987 RCV000785207 RCV003128130 RCV004554614 RCV004802954
NM_007294.4(BRCA1):c.213-12A>G	SNV Germline	Chr17:43104968	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Ovarian neoplasm 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 BRCA1-related disorder	Reviewed By Expert Panel	CA001426	rs_80358163	30 SubmittersRCV000031031 RCV000047726 RCV000131900 RCV000167772 RCV000505888 RCV000785201 RCV001270969 RCV002504839 RCV004758604
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 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast 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 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast	Reviewed By Expert Panel	CA001689	rs_80357131	13 SubmittersRCV000031056 RCV000047880 RCV000223464 RCV000657621 RCV002496473
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)	SNV Germline	Chr17:43099876	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Breast neoplasm Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Fanconi anemia, complementation group S Malignant tumor of breast not specified BRCA1-related disorder	Criteria Provided Conflicting Classifications	CA002865	rs_397507233	15 SubmittersRCV000031175 RCV000240737 RCV000219296 RCV000458634 RCV000479398 RCV000764128 RCV001357250 RCV002267803 RCV004758612
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 Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S	Reviewed By Expert Panel	CA003193	rs_80358053	18 SubmittersRCV000031210 RCV000048764 RCV000131833 RCV000481404 RCV001353952 RCV004795939
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 Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Fanconi anemia, complementation group S Gastric cancer BRCA1-related disorder BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA003235	rs_41293459	49 SubmittersRCV000031217 RCV000048790 RCV000131564 RCV000195350 RCV000735446 RCV000785422 RCV002250479 RCV002496477 RCV003162265 RCV004554634 RCV004802991
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)	SNV Germline	Chr17:43057122	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia, complementation group S	Reviewed By Expert Panel	CA003357	rs_45553935	23 SubmittersRCV000031229 RCV000048857 RCV000131291 RCV000195366 RCV000585878
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)	SNV Germline	Chr13:32332938	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 not specified	Criteria Provided Conflicting Classifications	CA012131	rs_56390402	17 SubmittersRCV000031322 RCV000131573 RCV000679155 RCV001082494 RCV001109419 RCV001818198
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 Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA013307	rs_80358463	14 SubmittersRCV000031339 RCV000130469 RCV000168530 RCV001082266 RCV001114847 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 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Fanconi anemia complementation group D1	Criteria Provided Conflicting Classifications	CA014722	rs_397507283	13 SubmittersRCV000031359 RCV000204756 RCV000215823 RCV000487003 RCV000657147 RCV001112185
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)	SNV Germline	Chr13:32337273	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Fanconi anemia complementation group D1 Ovarian cancer	Criteria Provided Conflicting Classifications	CA016775	rs_397507296	13 SubmittersRCV000031388 RCV000165120 RCV000220429 RCV000471898 RCV000781108 RCV001111816 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 not specified Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA020880	rs_80358705	16 SubmittersRCV000031508 RCV000044498 RCV000074530 RCV000130783 RCV001353552 RCV001112023 RCV003492312
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 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Condition: not provided Breast and/or ovarian cancer BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA021201	rs_80358730	17 SubmittersRCV000031522 RCV000044547 RCV000074532 RCV000129126 RCV001111540 RCV001281705 RCV001798044 RCV004541040
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)	SNV Germline	Chr13:32340486	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Malignant tumor of breast not specified	Criteria Provided Conflicting Classifications	CA023684	rs_56191579	17 SubmittersRCV000031601 RCV000166682 RCV000586884 RCV000768600 RCV001085159 RCV001330945 RCV001353819 RCV004562221
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 Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Malignant tumor of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA023686	rs_56191579	16 SubmittersRCV000031602 RCV000044854 RCV000130525 RCV000421588 RCV000413633 RCV001112564 RCV001086174 RCV001358172 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 Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA024168	rs_56019712	15 SubmittersRCV000031634 RCV000044985 RCV000129413 RCV000589601 RCV001081092 RCV001109884 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	Reviewed By Expert Panel	CA024713	rs_28897743	35 SubmittersRCV000009923 RCV000031659 RCV000045112 RCV000131031 RCV000174440 RCV000475925 RCV000735595 RCV002496486 RCV004732575
NM_000059.4(BRCA2):c.7977-1G>C	SNV Germline	Chr13:32363178	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition	Reviewed By Expert Panel	CA025372	rs_81002874	21 SubmittersRCV000031714 RCV000045368 RCV000162588 RCV000486971 RCV000507368 RCV003473215 RCV003483442 RCV004566780
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 breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions BRCA2-related disorder Gastric cancer Familial cancer of breast BRCA2-related cancer predisposition	Reviewed By Expert Panel	CA025677	rs_397507404	26 SubmittersRCV000009920 RCV000031747 RCV000160152 RCV000231355 RCV000213906 RCV000763329 RCV002221480 RCV003162283 RCV003473221 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 Hereditary cancer-predisposing syndrome not specified 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 RCV000131022 RCV000152885 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 not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA025983	rs_202155613	12 SubmittersRCV000031795 RCV000074559 RCV000223314 RCV000344086 RCV000289162 RCV002271381 RCV002250496
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)	SNV Germline	Chr13:32332434	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Malignant tumor of breast BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA026214	rs_55939572	19 SubmittersRCV000031831 RCV000045855 RCV000162692 RCV000735629 RCV000758980 RCV001109312 RCV001083417 RCV001357124 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 Fanconi anemia complementation group D1 Malignant tumor of pancreas Malignant tumor of breast not specified Familial cancer of breast BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA023912	rs_79456940	20 SubmittersRCV000034454 RCV000113573 RCV000129753 RCV000195307 RCV000240685 RCV000406166 RCV000677821 RCV001353658 RCV001818210 RCV002250503 RCV004541066
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)	SNV Germline	Chr13:32332490	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 not specified	Criteria Provided Conflicting Classifications	CA010336	rs_80358396	13 SubmittersRCV000043719 RCV000112875 RCV000509731 RCV000759572 RCV001111640 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 Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA011324	rs_80358418	12 SubmittersRCV000077253 RCV000129196 RCV001112107 RCV001394892 RCV001284073 RCV004700317
NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)	SNV Germline	Chr13:32336961	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Malignant tumor of breast Inherited breast cancer and ovarian cancer	Criteria Provided Conflicting Classifications	CA015810	rs_80358523	9 SubmittersRCV000113070 RCV000163028 RCV001109534 RCV001339978 RCV001357214 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 Malignant tumor of breast BRCA2-related disorder Ovarian neoplasm 8 conditions BRCA2-related cancer predisposition	Reviewed By Expert Panel	CA016531	rs_80358533	38 SubmittersRCV000044070 RCV000077287 RCV000131101 RCV000212222 RCV000496649 RCV001028039 RCV001358552 RCV004724777 RCV000785217 RCV004795965 RCV004803151
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly)	SNV Germline	Chr13:32337492	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1	Criteria Provided Conflicting Classifications	CA017285	rs_80358559	10 SubmittersRCV000044123 RCV000113138 RCV000129709 RCV000483875 RCV000779942 RCV001535463
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)	SNV Germline	Chr13:32325082	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 Malignant tumor of breast Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA017610	rs_80358568	14 SubmittersRCV000077298 RCV000166938 RCV000221445 RCV000315720 RCV001356621 RCV001372390 RCV002250509 RCV002267810
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr)	SNV Germline	Chr13:32338179	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 not specified BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA018880	rs_80358625	12 SubmittersRCV000044272 RCV000083101 RCV000132466 RCV000985512 RCV001112374 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 Malignant tumor of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA020526	rs_80358694	17 SubmittersRCV000044452 RCV000077330 RCV000129285 RCV000212237 RCV000413529 RCV001109714 RCV001281727 RCV001353885 RCV003149681
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 cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Fanconi anemia complementation group D1 Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA022780	rs_55996097	22 SubmittersRCV000077357 RCV000129072 RCV000167807 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 cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA023455	rs_80358833	19 SubmittersRCV000044813 RCV000077366 RCV000129689 RCV000195331 RCV000318984 RCV000859013 RCV004537198
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)	SNV Germline	Chr13:32340456	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA023655	rs_80358849	12 SubmittersRCV000083122 RCV000120341 RCV000166225 RCV001110580 RCV001374119 RCV001529429
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys)	SNV Germline	Chr13:32340636	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Fanconi anemia complementation group D1	Criteria Provided Conflicting Classifications	CA023819	rs_397507838	11 SubmittersRCV000083125 RCV000580567 RCV000486364 RCV000709324 RCV000759639 RCV003225719
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 Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA023867	rs_56172926	25 SubmittersRCV000044901 RCV000077370 RCV000131282 RCV001112565 RCV001085349 RCV001705700 RCV003492360 RCV004803870
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)	SNV Germline	Chr13:32340767	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Condition: not provided Breast neoplasm Breast and/or ovarian cancer BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA024008	rs_11571659	28 SubmittersRCV000044938 RCV000077373 RCV000120342 RCV000128955 RCV000311226 RCV000656613 RCV000414271 RCV003149687 RCV004803872
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 8 conditions not specified Fanconi anemia complementation group D1 Breast and/or ovarian cancer BRCA2-related disorder BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA024312	rs_41293503	18 SubmittersRCV000045026 RCV000083129 RCV000165940 RCV000216299 RCV000763895 RCV000781142 RCV001109885 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 not specified Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA024315	rs_80358895	10 SubmittersRCV000113631 RCV000130198 RCV000212251 RCV000656798 RCV001110667 RCV001351104
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)	SNV Germline	Chr13:32341140	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA024407	rs_80358904	12 SubmittersRCV000077383 RCV000162802 RCV000225748 RCV001110668 RCV001284581 RCV001818218
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)	SNV Germline	Chr13:32341176	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Malignant tumor of breast Familial cancer of breast Fanconi anemia complementation group D1 Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA024458	rs_55712212	28 SubmittersRCV000045064 RCV000074551 RCV000077387 RCV000131679 RCV000735591 RCV001270288 RCV002294006 RCV001110669 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 Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA024716	rs_28897743	17 SubmittersRCV000045113 RCV000077394 RCV000214499 RCV000256059 RCV000475905 RCV001269283 RCV001171445 RCV001353724 RCV001310135
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 Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Familial cancer of breast	Criteria Provided Conflicting Classifications	CA025098	rs_80358969	10 SubmittersRCV000113764 RCV000164219 RCV000759655 RCV001110755 RCV001305633 RCV004803897 RCV004566836
NM_000059.4(BRCA2):c.7976+12G>A	SNV Germline	Chr13:32362705	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 Malignant tumor of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA025363	rs_81002827	13 SubmittersRCV000045362 RCV000113847 RCV000129688 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 Fanconi anemia complementation group D1 Malignant tumor of breast Breast and/or ovarian cancer BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA025521	rs_80359069	19 SubmittersRCV000045453 RCV000077431 RCV000129733 RCV000214196 RCV001080912 RCV001110061 RCV001353878 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 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA025663	rs_80359097	13 SubmittersRCV000045529 RCV000077440 RCV000164639 RCV001114949 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 Hearing impairment Cerebral palsy Neurodevelopmental delay Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 BRCA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA025672	rs_81002806	12 SubmittersRCV000113945 RCV000502951 RCV000571631 RCV001007900 RCV000985604 RCV001379438 RCV002272042 RCV003483454 RCV004732632
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)	SNV Germline	Chr13:32379412	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 Breast and/or ovarian cancer BRCA2-related cancer predisposition BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA025850	rs_28897754	31 SubmittersRCV000045642 RCV000114008 RCV000120366 RCV000162603 RCV000679194 RCV001112820 RCV001170977 RCV004803924 RCV004528254
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 not specified Condition: not provided 8 conditions Fanconi anemia complementation group D1	Criteria Provided Conflicting Classifications	CA026037	rs_80359186	10 SubmittersRCV000045750 RCV000077464 RCV000130237 RCV000326170 RCV000656811 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 Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1	Criteria Provided Conflicting Classifications	CA026215	rs_55939572	15 SubmittersRCV000045856 RCV000083161 RCV000128972 RCV000587951 RCV000735630 RCV001080083 RCV001109313
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 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA000742	rs_80356880	7 SubmittersRCV000111781 RCV000763401 RCV002433536 RCV001378528
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.1292T>G (p.Leu431Ter)	SNV Germline	Chr17:43094239	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA000845	rs_80357346	5 SubmittersRCV000111583 RCV000767398 RCV002381345
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 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4	Reviewed By Expert Panel	CA000862	rs_80357446	25 SubmittersRCV000077487 RCV000166901 RCV000434130 RCV000496386 RCV000735465 RCV000763011
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 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Pancreatic cancer, susceptibility to, 4	Criteria Provided Conflicting Classifications	CA000918	rs_62625300	12 SubmittersRCV000047448 RCV000111599 RCV000148411 RCV000215677 RCV000679681 RCV000764125
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 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 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.2050C>T (p.Pro684Ser)	SNV Germline	Chr17:43093481	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Breast and/or ovarian cancer BRCA1-related cancer predisposition	Criteria Provided Conflicting Classifications	CA001361	rs_397508934	12 SubmittersRCV000047694 RCV000130395 RCV000485811 RCV000586501 RCV000764123 RCV000768616 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 Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S	Criteria Provided Multiple Submitters No Conflicts	CA001420	rs_80356913	11 SubmittersRCV000112023 RCV000503702 RCV001180531 RCV001384425 RCV004795985
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)	SNV Germline	Chr17:43093222	Pathogenic	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4	Reviewed By Expert Panel	CA001536	rs_80357063	15 SubmittersRCV000047791 RCV000077513 RCV000222520 RCV000445000 RCV002496716
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)	SNV Germline	Chr17:43104928	Pathogenic	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Breast and/or ovarian cancer Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast	Reviewed By Expert Panel	CA001613	rs_80357350	13 SubmittersRCV000047834 RCV000112105 RCV000735472 RCV000763008 RCV001015488 RCV003321493 RCV001353463
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)	SNV Germline	Chr17:43092809	Pathogenic	Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Breast neoplasm Breast and/or ovarian cancer Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4	Reviewed By Expert Panel	CA001792	rs_80356978	30 SubmittersRCV000047943 RCV000074576 RCV000077527 RCV000131878 RCV000148387 RCV000735484 RCV000763005
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)	SNV Germline	Chr17:43092434	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4	Reviewed By Expert Panel	CA002029	rs_273899698	6 SubmittersRCV000077538 RCV000216019 RCV000763004
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 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 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.3598C>T (p.Gln1200Ter)	SNV Germline	Chr17:43091933	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 Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Pancreatic cancer, susceptibility to, 4 not specified BRCA1-related disorder	Reviewed By Expert Panel	CA002296	rs_62625307	23 SubmittersRCV000048245 RCV000077552 RCV000131819 RCV000159977 RCV000763003 RCV001001611 RCV004554663
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 Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Gastric cancer Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4	Reviewed By Expert Panel	CA002328	rs_80356923	19 SubmittersRCV000112143 RCV000413182 RCV000562775 RCV000758815 RCV001271013 RCV000779886 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 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 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	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided 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	Reviewed By Expert Panel	CA002504	rs_80357440	11 SubmittersRCV000077557 RCV000162869 RCV000212178 RCV000587766 RCV000763002
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 Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Condition: not provided	Reviewed By Expert Panel	CA002562	rs_80357475	10 SubmittersRCV000048405 RCV000111552 RCV000131890 RCV000763402 RCV001357041
NM_007294.4(BRCA1):c.4485-1G>A	SNV Germline	Chr17:43074522	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts	CA002878	rs_80358189	14 SubmittersRCV000112343 RCV000235386 RCV000496695 RCV000580034 RCV000762999 RCV001171415 RCV001353957
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)	SNV Germline	Chr17:43074482	Pathogenic	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Breast and/or ovarian cancer Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA002893	rs_80356885	29 SubmittersRCV000048586 RCV000077575 RCV000129129 RCV000236102 RCV001001033 RCV000762998 RCV003492388 RCV004584141
NM_007294.4(BRCA1):c.4675+1G>A	SNV Germline	Chr17:43074330	Pathogenic	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast neoplasm Breast and/or ovarian cancer Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4	Reviewed By Expert Panel	CA002957	rs_80358044	29 SubmittersRCV000048623 RCV000077582 RCV000131822 RCV000225764 RCV000414441 RCV000735555 RCV000762997
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)	SNV Germline	Chr17:43067614	Conflicting classifications of pathogenicity	not specified Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Breast neoplasm 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 Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA003183	rs_397507239	15 SubmittersRCV000048756 RCV000077592 RCV000130370 RCV000240688 RCV000225765 RCV000656791 RCV000765357 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 Breast and/or ovarian cancer 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 Multiple Submitters No Conflicts	CA003197	rs_80358181	16 SubmittersRCV000112483 RCV000255098 RCV000496317 RCV001271029 RCV001378309 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 Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group A Ovarian cancer Familial cancer of breast Fanconi anemia, complementation group S Endometrial carcinoma Malignant tumor of breast BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA003234	rs_55770810	40 SubmittersRCV000048789 RCV000077595 RCV000148390 RCV000131821 RCV000159999 RCV000191041 RCV000239322 RCV000457515 RCV000585864 RCV003128133 RCV001357133 RCV004804015
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)	SNV Germline	Chr17:43063361	Pathogenic/Likely pathogenic	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4	Criteria Provided Multiple Submitters No Conflicts	CA003318	rs_80357104	19 SubmittersRCV000048839 RCV000077606 RCV000214443 RCV000236284 RCV001354040 RCV002490620
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 Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA003343	rs_80358079	11 SubmittersRCV000048851 RCV000077608 RCV000583637 RCV000762996 RCV001171437 RCV004566894
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)	SNV Germline	Chr17:43057078	Pathogenic	Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Breast neoplasm Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Familial cancer of breast Breast and/or ovarian cancer	Reviewed By Expert Panel	CA003389	rs_80357123	45 SubmittersRCV000048882 RCV000074600 RCV000077611 RCV000162884 RCV000414226 RCV000763399 RCV000786961 RCV001270975
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 Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S	Criteria Provided Multiple Submitters No Conflicts	CA003394	rs_80357074	6 SubmittersRCV000112581 RCV000563666 RCV001326888 RCV003321495 RCV004819215
NM_007294.4(BRCA1):c.5333-1G>A	SNV Germline	Chr17:43049195	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S	Criteria Provided Multiple Submitters No Conflicts	CA003494	rs_80358126	7 SubmittersRCV000169281 RCV000758843 RCV001384038 RCV002345349 RCV004795989
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 Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Fanconi anemia, complementation group S Ovarian neoplasm Malignant tumor of breast Breast carcinoma	Reviewed By Expert Panel	CA003599	rs_80356962	33 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	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast neoplasm Breast and/or ovarian cancer Ovarian neoplasm Malignant tumor of breast Ovarian neoplasm Familial cancer of breast Lung cancer Breast carcinoma Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Gastric cancer Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA003674	rs_41293465	49 SubmittersRCV000049020 RCV000077627 RCV000131862 RCV000203652 RCV000238956 RCV000240766 RCV000735447 RCV000785213 RCV001353835 RCV001527479 RCV001554249 RCV002496720 RCV003162421 RCV004772834
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 Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA003942	rs_80357039	9 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 Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Cockayne syndrome ERCC4-Related Disorders Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA143933	rs_149364215	4 SubmittersRCV000049245 RCV001067959 RCV004700343 RCV003144119
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 XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum ERCC4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA143941	rs_147105770	6 SubmittersRCV000049250 RCV000700109 RCV000762956 RCV002222373 RCV003415812
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp)	SNV Germline	Chr17:43091976	Conflicting classifications of pathogenicity	not specified Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Condition: not provided	Criteria Provided Conflicting Classifications	CA002273	rs_587779368	10 SubmittersRCV000074581 RCV000077551 RCV000165151 RCV000469806 RCV000765363 RCV000766573
NM_000059.4(BRCA2):c.608C>A (p.Thr203Asn)	SNV Germline	Chr13:32326590	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1	Criteria Provided Conflicting Classifications	CA023638	rs_398122547	7 SubmittersRCV000076954 RCV000471187 RCV000509879 RCV000758918 RCV001113535
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)	SNV Germline	Chr13:32340895	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Condition: not provided	Criteria Provided Conflicting Classifications	CA024153	rs_398122560	12 SubmittersRCV000076969 RCV000131800 RCV000160235 RCV000234409 RCV001109883 RCV003477474
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)	SNV Germline	Chr17:43091477	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Familial cancer of breast 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	Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Malignant tumor of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S	Criteria Provided Multiple Submitters No Conflicts	CA003521	rs_398122697	14 SubmittersRCV000077166 RCV000159852 RCV000465437 RCV000509661 RCV000766591 RCV004796005
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)	SNV Germline	Chr13:32333240	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome 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 RCV000160207 RCV000163030 RCV000531905 RCV001109420 RCV001353480 RCV001703984
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)	SNV Germline	Chr13:32336541	Conflicting classifications of pathogenicity	Breast neoplasm Hereditary breast ovarian cancer syndrome Ovarian cancer Condition: not provided 8 conditions Fanconi anemia complementation group D1 not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA014563	rs_431825296	13 SubmittersRCV000240800 RCV000637814 RCV000677830 RCV000758870 RCV000763882 RCV001112184 RCV002298468 RCV000082901 RCV000166578
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)	SNV Germline	Chr13:32337581	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 not specified BRCA2-related disorder Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA017586	rs_431825304	13 SubmittersRCV000222899 RCV000588617 RCV000799401 RCV001113630 RCV002247480 RCV004732659 RCV000082909
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 Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA025963	rs_80359161	9 SubmittersRCV000114042 RCV000129295 RCV000758971 RCV001568367 RCV001055261 RCV003460793
NC_000016.10:g.23641315C>G	SNV Germline	Chr16:23641315	Conflicting classifications of pathogenicity	Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA269467	rs_138200248	4 SubmittersRCV000282144 RCV000374410 RCV000829438 RCV001030094
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	Condition: not provided Fanconi anemia complementation group N Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA151212	rs_45494092	28 SubmittersRCV000755592 RCV001116860 RCV001354445 RCV001798291 RCV000114450 RCV000121752 RCV000127306
NM_024675.4(PALB2):c.110G>A (p.Arg37His)	SNV Germline	Chr16:23637951	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 PALB2-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA288386	rs_202194596	13 SubmittersRCV000212768 RCV000780571 RCV002483177 RCV004739369 RCV000114460 RCV000116061
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)	SNV Germline	Chr16:23635401	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	CA269483	rs_515726063	11 SubmittersRCV000483203 RCV000567033 RCV002483178 RCV000114461
NM_024675.4(PALB2):c.1194G>A (p.Val398=)	SNV Germline	Chr16:23635352	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group N Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA151219	rs_61755173	27 SubmittersRCV000212786 RCV000327932 RCV000588666 RCV001170350 RCV001357080 RCV000114462 RCV000127307
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)	SNV Germline	Chr16:23641147	Conflicting classifications of pathogenicity	Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Tracheoesophageal fistula Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast not specified PALB2-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA288392	rs_45619737	14 SubmittersRCV000515208 RCV000590674 RCV001798292 RCV001358373 RCV001797625 RCV004739370 RCV000114464 RCV000116063
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)	SNV Germline	Chr16:23630455	Conflicting classifications of pathogenicity	Condition: not provided not specified Fanconi anemia complementation group N PALB2-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA288416	rs_370422990	16 SubmittersRCV000588850 RCV001171429 RCV001292820 RCV004529918 RCV000114495 RCV000116072
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 Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA163823	rs_180177112	14 SubmittersRCV000114524 RCV000129116 RCV000236024 RCV001781442 RCV003330435
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	not specified Condition: not provided Fanconi anemia complementation group N Familial ovarian cancer Familial cancer of breast Fanconi anemia complementation group N PALB2-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA167879	rs_45476495	19 SubmittersRCV000483553 RCV000587708 RCV001118198 RCV003483473 RCV004739374 RCV000114549 RCV000131257
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	Criteria Provided Multiple Submitters No Conflicts	CA269561	rs_180177122	12 SubmittersRCV000114552 RCV000255170 RCV000562748 RCV002498481 RCV004782240
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)	SNV Germline	Chr16:23624070	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast and/or ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA164110	rs_180177125	13 SubmittersRCV000235847 RCV000764047 RCV001798299 RCV000114558 RCV000129279
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)	SNV Germline	Chr16:23624027	Conflicting classifications of pathogenicity	Fanconi anemia complementation group N not specified Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast PALB2-related disorder Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA151239	rs_45478192	33 SubmittersRCV000306515 RCV000417395 RCV000586156 RCV001170349 RCV001356702 RCV004528790 RCV004760375 RCV000114561 RCV000116092
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)	SNV Germline	Chr16:23623114	Conflicting classifications of pathogenicity	Fanconi anemia complementation group N Condition: not provided Familial cancer of breast not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA161355	rs_149522412	18 SubmittersRCV000397940 RCV000589520 RCV001030355 RCV000121763 RCV000129725
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)	SNV Germline	Chr16:23636248	Conflicting classifications of pathogenicity	Condition: not provided Fanconi anemia complementation group N Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome not specified Pancreatic cancer, susceptibility to, 3 Breast and/or ovarian cancer PALB2-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA288454	rs_61756147	17 SubmittersRCV000212772 RCV001119843 RCV001249253 RCV001192907 RCV001355228 RCV003492442 RCV004528791 RCV000114577 RCV000116095
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	SNV Germline	Chr16:23621362	Pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast cancer, susceptibility to Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 5 PALB2-related disorder NICE approved PARP inhibitor treatment Inherited breast cancer and ovarian cancer Inherited ovarian cancer (without breast cancer)	Reviewed By Expert Panel	CA251004	rs_180177132	32 SubmittersRCV000116096 RCV000114591 RCV000144703 RCV000212822 RCV000588093 RCV001535480 RCV001171469 RCV003492443 RCV003389455 RCV004528792 RCV004577322 RCV004584191 RCV004584192
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)	SNV Germline	Chr16:23636231	Conflicting classifications of pathogenicity	not specified Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 PALB2-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA288463	rs_515726108	15 SubmittersRCV001174951 RCV002490766 RCV004529924 RCV000114600 RCV000116099 RCV000212773
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)	SNV Germline	Chr16:23607963	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Malignant tumor of breast not specified PALB2-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA239946	rs_62625271	17 SubmittersRCV000656940 RCV000764043 RCV001116749 RCV001358132 RCV003493439 RCV004739377 RCV000114610 RCV000160852
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	SNV Germline	Chr16:23607958	Pathogenic/Likely pathogenic	Pancreatic cancer, susceptibility to, 3 Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 Breast and/or ovarian cancer Gastric cancer Breast-ovarian cancer, familial, susceptibility to, 5 PALB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA211207	rs_587776527	22 SubmittersRCV000114612 RCV000160853 RCV000168017 RCV000212825 RCV001030644 RCV002307393 RCV002490767 RCV003149788 RCV003162531 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.3428T>A (p.Leu1143His)	SNV Germline	Chr16:23603592	Conflicting classifications of pathogenicity	Condition: not provided bilateral breast cancer Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 not specified PALB2-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA288478	rs_62625284	21 SubmittersRCV000585950 RCV001004833 RCV000764041 RCV001804169 RCV004528795 RCV000114625 RCV000116104
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)	SNV Germline	Chr16:23638125	Conflicting classifications of pathogenicity	Fanconi anemia complementation group N Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA161315	rs_138789658	24 SubmittersRCV000376271 RCV000440737 RCV002225309 RCV000114647 RCV000121743 RCV000129207
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)	SNV Germline	Chr16:23635917	Conflicting classifications of pathogenicity	Fanconi anemia complementation group N Malignant tumor of breast Breast and/or ovarian cancer Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA161333	rs_57605939	22 SubmittersRCV000306267 RCV001358034 RCV001798303 RCV001705820 RCV002225310 RCV000114650 RCV000121750 RCV000131969
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 and/or ovarian cancer 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	CA269645	rs_180177091	15 SubmittersRCV000114657 RCV000210097 RCV000413603 RCV003492446 RCV004813057 RCV004796018
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	Condition: not provided Fanconi anemia complementation group N Malignant tumor of breast PALB2-related disorder Familial cancer of breast not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA161318	rs_151316635	18 SubmittersRCV000656932 RCV001119845 RCV001357251 RCV004529927 RCV000114673 RCV000121744 RCV000116117
NM_000136.3(FANCC):c.-78-2A>G	SNV Germline	Chr9:95249371	Conflicting classifications of pathogenicity	Condition: not provided Fanconi anemia	Criteria Provided Conflicting Classifications	CA287176	rs_587779898	2 SubmittersRCV000115337 RCV001068445
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	Criteria Provided Conflicting Classifications	CA287184	rs_369684405	4 SubmittersRCV000115341 RCV000206060 RCV002381419
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	7 SubmittersRCV000115342 RCV000709080 RCV000805530 RCV001011247 RCV003492471 RCV004748580
NM_000136.3(FANCC):c.1604G>A (p.Arg535His)	SNV Germline	Chr9:95101780	Conflicting classifications of pathogenicity	Fanconi anemia Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA287196	rs_587779902	5 SubmittersRCV000228424 RCV001012346 RCV005000998 RCV000115345
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)	SNV Germline	Chr9:95247504	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C Malignant tumor of breast Hereditary cancer FANCC-related disorder not specified Fanconi anemia Condition: not provided	Criteria Provided Conflicting Classifications	CA287202	rs_138629441	19 SubmittersRCV000563479 RCV000709095 RCV001354572 RCV003492472 RCV003935098 RCV000115347 RCV000197543 RCV000224234
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 Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C not specified Hereditary cancer	Criteria Provided Conflicting Classifications	CA287213	rs_587779905	7 SubmittersRCV000115352 RCV000315029 RCV000571052 RCV000709093 RCV001818267 RCV003492473
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)	SNV Germline	Chr9:95149977	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C Fanconi anemia complementation group A Malignant tumor of breast Condition: not provided FANCC-related disorder not specified Fanconi anemia	Criteria Provided Conflicting Classifications	CA159411	rs_140781259	16 SubmittersRCV000570280 RCV000709090 RCV000988214 RCV001356599 RCV001195037 RCV003945045 RCV000120979 RCV000200372
NM_000136.3(FANCC):c.843+1G>A	SNV Germline	Chr9:95135345	Pathogenic/Likely pathogenic	Fanconi anemia Fanconi anemia complementation group C Malignant tumor of breast Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA287232	rs_587779909	8 SubmittersRCV000204814 RCV000410480 RCV001356332 RCV002444565
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)	SNV Germline	Chr9:95125148	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C Condition: not provided not specified Hereditary cancer FANCC-related disorder Fanconi anemia	Criteria Provided Conflicting Classifications	CA287233	rs_1800366	15 SubmittersRCV000572525 RCV000709085 RCV001195051 RCV001818268 RCV004700419 RCV004748581 RCV000196771
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val)	SNV Germline	Chr7:152649202	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Fanconi anemia complementation group U Condition: not provided XRCC2-related disorder	Criteria Provided Conflicting Classifications	CA288130	rs_140214637	7 SubmittersRCV000115888 RCV000570999 RCV000988018 RCV000791415 RCV003945051
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_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	SNV Germline	Chr16:23635306	Pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Gastric cancer PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Pancreatic cancer, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA288395	rs_180177100	26 SubmittersRCV000116064 RCV000123331 RCV000254674 RCV000588541 RCV001354096 RCV002477287 RCV003162546 RCV004529946 RCV004555854 RCV004668783
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 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA288419	rs_587780207	5 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 Familial cancer of breast Condition: not provided Fanconi anemia complementation group N not specified Malignant tumor of breast PALB2-related disorder	Criteria Provided Conflicting Classifications	CA288444	rs_377626805	15 SubmittersRCV000116084 RCV000200135 RCV000212811 RCV000292657 RCV000780574 RCV001354155 RCV004542829
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)	SNV Germline	Chr16:23629645	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group N Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome Malignant tumor of breast Breast and/or ovarian cancer PALB2-related disorder	Criteria Provided Conflicting Classifications	CA161349	rs_587778587	17 SubmittersRCV000116087 RCV000121758 RCV000318539 RCV000656936 RCV000989556 RCV001030647 RCV001356207 RCV001798359 RCV004529947
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 Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 not specified Breast-ovarian cancer, familial, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA210470	rs_587780214	17 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 Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA288488	rs_118203998	21 SubmittersRCV000116108 RCV000200012 RCV000212831 RCV000587765 RCV000763376 RCV004528809 RCV003493446
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.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 Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA288504	rs_587780223	7 SubmittersRCV000116116 RCV000212783 RCV000472765 RCV002483191
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)	SNV Germline	Chr17:61799185	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Fanconi anemia complementation group J Fanconi anemia complementation group J Ovarian neoplasm Breast carcinoma Condition: not provided Malignant tumor of breast Familial cancer of breast Breast and/or ovarian cancer BRIP1-related disorder Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA157738	rs_150624408	26 SubmittersRCV000116120 RCV000120413 RCV000206467 RCV000409993 RCV000411100 RCV000415326 RCV000587794 RCV001356264 RCV001262875 RCV003149812 RCV004529948 RCV004764766
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)	SNV Germline	Chr17:61799125	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Ovarian neoplasm Familial cancer of breast Fanconi anemia complementation group J Familial ovarian cancer Gastric cancer Familial cancer of breast BRIP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA288511	rs_587780226	12 SubmittersRCV000116121 RCV000210150 RCV000662793 RCV000699261 RCV001787088 RCV003162547 RCV003315646 RCV003483484
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 Fanconi anemia complementation group J Ovarian neoplasm Familial cancer of breast Fanconi anemia complementation group J	Criteria Provided Multiple Submitters No Conflicts	CA288517	rs_587780228	13 SubmittersRCV000116123 RCV000212309 RCV000473135 RCV000663293 RCV000781186 RCV001781450
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)	SNV Germline	Chr17:61780899	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Ovarian neoplasm Fanconi anemia complementation group J not specified Familial cancer of breast BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA288532	rs_28997571	15 SubmittersRCV000116130 RCV000212315 RCV000196018 RCV000410174 RCV000412043 RCV001192970 RCV003315649 RCV004528811
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 Fanconi anemia complementation group J Ovarian neoplasm Familial cancer of breast BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA208855	rs_587780235	18 SubmittersRCV000116137 RCV000194594 RCV000477497 RCV000586157 RCV000662754 RCV001762241 RCV004732686
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 Ovarian neoplasm Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA288567	rs_587780244	8 SubmittersRCV000116148 RCV000212329 RCV000229209 RCV000410789 RCV000412341 RCV000656814 RCV003315654
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 Ovarian neoplasm Condition: not provided not specified Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Familial cancer of breast BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA288570	rs_140233356	15 SubmittersRCV000116149 RCV000199089 RCV000411198 RCV000409338 RCV000585934 RCV000855583 RCV001030467 RCV003492507 RCV003315655 RCV004529951
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 Fanconi anemia complementation group J Ovarian neoplasm not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA288579	rs_367816363	9 SubmittersRCV000116152 RCV000206801 RCV000212333 RCV000662500 RCV000781175 RCV003315656
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)	SNV Germline	Chr17:61857121	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Ovarian neoplasm Fanconi anemia complementation group J not specified Familial cancer of breast BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA288582	rs_587780247	14 SubmittersRCV000116153 RCV000205068 RCV000212298 RCV000409171 RCV000411175 RCV000780051 RCV000990040 RCV004529952
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 Fanconi anemia complementation group J Ovarian neoplasm not specified Familial cancer of breast BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA288585	rs_150813402	9 SubmittersRCV000116154 RCV000204707 RCV000218787 RCV000663136 RCV000780057 RCV003315657 RCV004732687
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 Ovarian neoplasm Malignant tumor of breast not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA288588	rs_587780248	11 SubmittersRCV000116155 RCV000204181 RCV000214821 RCV000409119 RCV000410336 RCV001354313 RCV001194197 RCV003315658
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 Ovarian neoplasm Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast Malignant tumor of breast BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA288591	rs_145855459	14 SubmittersRCV000116156 RCV000212334 RCV000410562 RCV000411633 RCV000587193 RCV001080937 RCV000989979 RCV001354736 RCV004529953
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 Fanconi anemia complementation group J Ovarian neoplasm Condition: not provided Fanconi anemia complementation group J not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA288597	rs_45603843	12 SubmittersRCV000116158 RCV000200049 RCV000662581 RCV000662347 RCV001535683 RCV003150947 RCV003315659
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)	SNV Germline	Chr17:61847141	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group J Cervical cancer Malignant tumor of breast Breast and/or ovarian cancer BRIP1-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA288606	rs_550707862	16 SubmittersRCV000116163 RCV000235147 RCV000586611 RCV001082539 RCV001030546 RCV001127949 RCV001356235 RCV001356416 RCV003149814 RCV004529954 RCV004786373
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)	SNV Germline	Chr17:61808595	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Ovarian neoplasm Fanconi anemia complementation group J Familial cancer of breast Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Malignant tumor of breast Breast and/or ovarian cancer BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA157728	rs_28997569	22 SubmittersRCV000116164 RCV000120409 RCV000409223 RCV000411226 RCV000515771 RCV000679792 RCV001082519 RCV001269494 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 Ovarian neoplasm 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	Criteria Provided Conflicting Classifications	CA151532	rs_28997570	25 SubmittersRCV000116167 RCV000120408 RCV000412293 RCV000410013 RCV000590718 RCV000990022 RCV001084039 RCV001354244 RCV001798363 RCV004732688
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)	SNV Germline	Chr17:58734193	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O not specified Breast-ovarian cancer, familial, susceptibility to, 3 Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA288618	rs_587780253	12 SubmittersRCV000116171 RCV000227763 RCV000212951 RCV000302331 RCV000662871 RCV000709519 RCV001704017
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.506T>C (p.Val169Ala)	SNV Germline	Chr17:58696794	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Condition: not provided Malignant tumor of breast not specified Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA288624	rs_587780256	18 SubmittersRCV000116175 RCV000199007 RCV000412269 RCV000588889 RCV001358061 RCV002267859 RCV003492509 RCV004556053
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	13 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 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 Ovarian neoplasm Hereditary breast ovarian cancer syndrome RAD51C-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA288628	rs_587780259	23 SubmittersRCV000116178 RCV000234445 RCV000254687 RCV000456123 RCV000576612 RCV000785234 RCV001194262 RCV004528814
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 RAD51C-related disorder Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Ovarian neoplasm Malignant tumor of breast Breast and/or ovarian cancer not specified	Criteria Provided Conflicting Classifications	CA331905	rs_149331537	20 SubmittersRCV000116179 RCV000206074 RCV000411451 RCV000585995 RCV000778506 RCV000765378 RCV001195025 RCV001356788 RCV001798365 RCV001778711
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)	SNV Germline	Chr17:58709943	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3 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 RCV000487827 RCV000515761 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 Familial cancer of breast Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Ovarian neoplasm Condition: not provided BRIP1-related disorder Familial cancer of breast Malignant tumor of breast Breast and/or ovarian cancer Hereditary cancer	Criteria Provided Conflicting Classifications	CA157692	rs_45589637	27 SubmittersRCV000120396 RCV000123354 RCV000131414 RCV000409608 RCV000411134 RCV000488342 RCV000778128 RCV000989999 RCV001358098 RCV001798382 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 Fanconi anemia complementation group J Ovarian neoplasm Hereditary breast ovarian cancer syndrome Ovarian cancer Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA157695	rs_571108955	16 SubmittersRCV000120397 RCV000165749 RCV000475545 RCV000656813 RCV000663063 RCV001030536 RCV003153386 RCV003492523 RCV003315735
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 Ovarian neoplasm 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	Criteria Provided Conflicting Classifications	CA157701	rs_201869624	19 SubmittersRCV000120399 RCV000131535 RCV000588835 RCV000662392 RCV000709540 RCV001030535 RCV001083712 RCV001356698 RCV003315736 RCV003492524
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 Ovarian neoplasm Fanconi anemia complementation group J Breast and/or ovarian cancer Familial cancer of breast Inherited ovarian cancer (without breast cancer)	Criteria Provided Conflicting Classifications	CA157707	rs_4988356	14 SubmittersRCV000120401 RCV000213879 RCV000468023 RCV000656815 RCV000662595 RCV003144130 RCV003149827 RCV003315737 RCV004584195
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 Ovarian neoplasm 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	Criteria Provided Conflicting Classifications	CA157710	rs_28997573	22 SubmittersRCV000120402 RCV000131003 RCV000204453 RCV000409042 RCV000411479 RCV000589005 RCV000989978 RCV001535623 RCV003149828
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)	SNV Germline	Chr17:61847211	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Ovarian neoplasm 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	Criteria Provided Conflicting Classifications	CA157719	rs_4988345	24 SubmittersRCV000120405 RCV000129172 RCV000410168 RCV000411236 RCV000512967 RCV000990031 RCV001082598 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 Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Inborn genetic diseases Ovarian cancer Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum	Criteria Provided Conflicting Classifications	CA158873	rs_374186605	7 SubmittersRCV000120810 RCV000535348 RCV002515858 RCV003153389 RCV003315749 RCV002470769 RCV002257428
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)	SNV Germline	Chr16:13948175	Conflicting classifications of pathogenicity	not specified Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Hutchinson-Gilford syndrome Inborn genetic diseases Xeroderma pigmentosum Condition: not provided	Criteria Provided Conflicting Classifications	CA158876	rs_4986933	10 SubmittersRCV000120811 RCV000476568 RCV000989535 RCV001034545 RCV002515859 RCV002257429 RCV004704960
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg)	SNV Germline	Chr16:13948330	Conflicting classifications of pathogenicity	not specified Cockayne syndrome Xeroderma pigmentosum, group F 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 Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Xeroderma pigmentosum, group F Condition: not provided XFE progeroid syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum Inborn genetic diseases ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA158888	rs_1800069	12 SubmittersRCV000120815 RCV000463526 RCV001121237 RCV001354835 RCV001332584 RCV001788036 RCV002257430 RCV002515860 RCV003915202
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)	SNV Germline	Chr16:13922034	Conflicting classifications of pathogenicity	not specified Condition: not provided Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158897	rs_145315496	5 SubmittersRCV000120818 RCV000728799 RCV001209805 RCV001543122
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)	SNV Germline	Chr16:13934224	Conflicting classifications of pathogenicity	not specified Condition: not provided Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Xeroderma pigmentosum, group F Xeroderma pigmentosum Fanconi anemia complementation group Q Xeroderma pigmentosum, group F XFE progeroid syndrome ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA158906	rs_1799802	11 SubmittersRCV000120821 RCV000224511 RCV001083882 RCV001116216 RCV002257432 RCV003224157 RCV003925183
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)	SNV Germline	Chr16:13935420	Conflicting classifications of pathogenicity	not specified Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Hutchinson-Gilford syndrome Xeroderma pigmentosum Xeroderma pigmentosum, group F Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158912	rs_146601373	9 SubmittersRCV000120823 RCV000459235 RCV001034544 RCV002258800 RCV001117661 RCV004704961 RCV002515862
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)	SNV Germline	Chr16:13935347	Conflicting classifications of pathogenicity	not specified Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Fanconi anemia complementation group Q	Criteria Provided Conflicting Classifications	CA158918	rs_572439259	3 SubmittersRCV000120825 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 Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Condition: not provided Xeroderma pigmentosum ERCC4-related disorder	Criteria Provided Conflicting Classifications	CA158921	rs_41552412	12 SubmittersRCV000120826 RCV000343662 RCV000546465 RCV000764023 RCV001292825 RCV001355143 RCV002258801 RCV003975071
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)	SNV Germline	Chr16:13935538	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	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 Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Fanconi anemia complementation group Q Condition: not provided Xeroderma pigmentosum, group F XFE progeroid syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA158936	rs_1800068	13 SubmittersRCV000120831 RCV000651477 RCV001119237 RCV001294105 RCV001357601 RCV002055332 RCV002257433 RCV002515863
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	Fanconi anemia not specified Fanconi anemia complementation group A Condition: not provided FANCA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA159232	rs_148100796	11 SubmittersRCV000474583 RCV000120912 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	5 SubmittersRCV000120922 RCV000667865 RCV001243928 RCV004975281
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)	SNV Germline	Chr16:89771757	Conflicting classifications of pathogenicity	not specified Fanconi anemia Fanconi anemia complementation group A Condition: not provided	Criteria Provided Conflicting Classifications	CA159263	rs_367880372	7 SubmittersRCV000120923 RCV000707539 RCV001271604 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.2859C>A (p.Asp953Glu)	SNV Germline	Chr16:89758699	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group A Fanconi anemia	Criteria Provided Conflicting Classifications	CA159296	rs_149112292	3 SubmittersRCV000120935 RCV000667206 RCV000872247
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 Condition: not provided FANCA-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA159299	rs_140823801	8 SubmittersRCV000120936 RCV000862981 RCV001276514 RCV003477505 RCV003975072 RCV004975283
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 Fanconi anemia complementation group A Condition: not provided Hepatoblastoma FANCA-related disorder	Criteria Provided Conflicting Classifications	CA159313	rs_147017625	8 SubmittersRCV000120941 RCV000226225 RCV003147340 RCV003477506 RCV001843480 RCV003935154
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 Condition: not provided FANCA-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA332149	rs_143642304	12 SubmittersRCV000120942 RCV000204450 RCV001115378 RCV003407512 RCV003952597 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.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	7 SubmittersRCV000120961 RCV000672751 RCV002055335 RCV003477512 RCV004742267 RCV004975287
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)	SNV Germline	Chr16:89805366	Conflicting classifications of pathogenicity	not specified Fanconi anemia Fanconi anemia complementation group A	Criteria Provided Conflicting Classifications	CA159367	rs_144420697	8 SubmittersRCV000120962 RCV000461615 RCV000664733
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	not specified Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C Fanconi anemia complementation group A Fanconi anemia	Criteria Provided Conflicting Classifications	CA159387	rs_41281202	11 SubmittersRCV000120969 RCV000224016 RCV000566496 RCV000709083 RCV000988205 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	9 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 A Fanconi anemia complementation group C Malignant tumor of breast FANCC-related disorder	Criteria Provided Conflicting Classifications	CA159399	rs_1800361	23 SubmittersRCV000120974 RCV000513630 RCV000573438 RCV001083879 RCV000988227 RCV001168031 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	26 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 Malignant tumor of breast Condition: not provided FANCD2-related disorder	Criteria Provided Conflicting Classifications	CA159438	rs_147523071	14 SubmittersRCV000120987 RCV000459559 RCV000764454 RCV001004843 RCV001541664 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 Ovarian cancer Exstrophy-epispadias complex	Criteria Provided Conflicting Classifications	CA159535	rs_139600847	6 SubmittersRCV000121010 RCV000689014 RCV003153392 RCV003389394
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.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	8 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_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 Fanconi anemia complementation group C Hereditary cancer-predisposing syndrome FANCC-related disorder Fanconi anemia	Criteria Provided Multiple Submitters No Conflicts	CA163000	rs_587777945	5 SubmittersRCV000122403 RCV001729399 RCV002399490 RCV003407527 RCV003522928
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 Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 PALB2-related disorder	Criteria Provided Conflicting Classifications	CA332967	rs_148647206	9 SubmittersRCV000123333 RCV000215046 RCV000589758 RCV002492444 RCV004739425
NM_024675.4(PALB2):c.2571G>A (p.Leu857=)	SNV Germline	Chr16:23629219	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA332973	rs_587780821	5 SubmittersRCV000123339 RCV000560973 RCV000486288 RCV001535717
NM_032043.3(BRIP1):c.1473+6A>G	SNV Germline	Chr17:61793591	Conflicting classifications of pathogenicity	Familial cancer of breast Fanconi anemia complementation group J Ovarian neoplasm Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA332986	rs_587780827	9 SubmittersRCV000123349 RCV000411739 RCV000411067 RCV000580346 RCV001618289 RCV001818297 RCV003315825
NM_032043.3(BRIP1):c.1629-3T>C	SNV Germline	Chr17:61781008	Conflicting classifications of pathogenicity	Familial cancer of breast Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group J Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA294179	rs_587780828	12 SubmittersRCV000123350 RCV000130219 RCV000212313 RCV003144134 RCV003477525 RCV003483490 RCV004786386
NM_032043.3(BRIP1):c.2097+7G>A	SNV Germline	Chr17:61776394	Conflicting classifications of pathogenicity	Condition: not provided not specified Ovarian neoplasm Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Fanconi anemia complementation group J Malignant tumor of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA289756	rs_4988352	25 SubmittersRCV000123353 RCV000124038 RCV000410211 RCV000412184 RCV000579602 RCV000990005 RCV001079247 RCV001354110 RCV001798408
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 Condition: not provided not specified Familial cancer of breast BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA187582	rs_188258913	12 SubmittersRCV000123357 RCV000163156 RCV001284118 RCV001778741 RCV002272135 RCV004530061
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)	SNV Germline	Chr17:61683771	Conflicting classifications of pathogenicity	Familial cancer of breast Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group J Ovarian neoplasm Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA165900	rs_587780830	10 SubmittersRCV000123358 RCV000130186 RCV000442394 RCV000662393 RCV001284121 RCV003315827 RCV004584610 RCV004732691
NM_032043.3(BRIP1):c.612C>G (p.Ser204=)	SNV Germline	Chr17:61847116	Conflicting classifications of pathogenicity	Familial cancer of breast Fanconi anemia complementation group J Fanconi anemia complementation group J Ovarian neoplasm not specified Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA332993	rs_587780832	7 SubmittersRCV000123362 RCV000410021 RCV000411574 RCV000603905 RCV000776533 RCV003315828
NM_032043.3(BRIP1):c.627+1G>A	SNV Germline	Chr17:61847100	Pathogenic/Likely pathogenic	Fanconi anemia complementation group J Familial cancer of breast 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	Familial cancer of breast Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group J not specified Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA298928	rs_138743097	11 SubmittersRCV000123365 RCV000160362 RCV000586716 RCV001125839 RCV002267867 RCV002225394 RCV003149846
NM_058216.3(RAD51C):c.146-8A>G	SNV Germline	Chr17:58694923	Conflicting classifications of pathogenicity	Fanconi anemia complementation group O not specified Breast-ovarian cancer, familial, susceptibility to, 3 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA293025	rs_201079501	16 SubmittersRCV000123369 RCV000127688 RCV000409786 RCV000579930 RCV000662404 RCV001815236 RCV003149847 RCV002509230
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 Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3 RAD51C-related disorder	Criteria Provided Conflicting Classifications	CA333000	rs_587780836	6 SubmittersRCV000123372 RCV000215144 RCV001582597 RCV002466441 RCV004530062
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	Criteria Provided Conflicting Classifications	CA289740	rs_200050729	11 SubmittersRCV000124025 RCV000580079 RCV000679789 RCV001397865 RCV003149853
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)	SNV Germline	Chr17:61683587	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Ovarian neoplasm Fanconi anemia complementation group J Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast Breast and/or ovarian cancer BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA289745	rs_4987050	18 SubmittersRCV000124030 RCV000212336 RCV000409837 RCV000411782 RCV000679785 RCV001082541 RCV000989977 RCV001798415 RCV004732693
NM_032043.3(BRIP1):c.-30-3T>C	SNV Germline	Chr17:61861572	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided	Criteria Provided Conflicting Classifications	CA289748	rs_370728413	9 SubmittersRCV000124031 RCV000580838 RCV000990046 RCV001122188 RCV001689674
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)	SNV Germline	Chr17:61861504	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group J Ovarian neoplasm 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	CA289749	rs_45566938	13 SubmittersRCV000124032 RCV000212296 RCV000410111 RCV000411186 RCV000588076 RCV001086934 RCV001798416 RCV003315841
NM_032043.3(BRIP1):c.1629-11T>C	SNV Germline	Chr17:61781016	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Ovarian neoplasm Fanconi anemia complementation group J Familial cancer of breast Familial cancer of breast	Criteria Provided Conflicting Classifications	CA289755	rs_375710640	8 SubmittersRCV000124036 RCV000383630 RCV000580125 RCV000662400 RCV002055435 RCV003315843
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	14 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 Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA293026	rs_377297129	16 SubmittersRCV000127693 RCV000410695 RCV000411797 RCV000579441 RCV001195010 RCV001354401 RCV003149869
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter)	SNV Germline	Chr17:58724090	Pathogenic	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA163579	rs_587781287	10 SubmittersRCV000128973 RCV000230603 RCV000501924 RCV000483841
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)	SNV Germline	Chr17:61859868	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Familial cancer of breast Condition: not provided Fanconi anemia complementation group J Ovarian neoplasm Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA163617	rs_587781292	10 SubmittersRCV000128992 RCV000196974 RCV000482088 RCV000662599 RCV001798433 RCV003315866
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)	SNV Germline	Chr17:61683943	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Ovarian neoplasm Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Malignant tumor of breast not specified Breast and/or ovarian cancer Familial cancer of breast BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA163643	rs_45437094	18 SubmittersRCV000129008 RCV000410906 RCV000412441 RCV000590794 RCV001081667 RCV001355322 RCV001800423 RCV003149886 RCV003315867 RCV004532542
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)	SNV Germline	Chr17:61683897	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 Ovarian neoplasm Familial cancer of breast	Criteria Provided Conflicting Classifications	CA163667	rs_373040333	8 SubmittersRCV000129015 RCV000197620 RCV000213740 RCV000662424 RCV003315868
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)	SNV Germline	Chr17:58703201	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Hereditary breast ovarian cancer syndrome RAD51C-related disorder Breast carcinoma Breast-ovarian cancer, familial, susceptibility to, 3 Inherited ovarian cancer (without breast cancer)	Criteria Provided Multiple Submitters No Conflicts	CA333162	rs_200293302	18 SubmittersRCV000129056 RCV000203684 RCV000212943 RCV000576579 RCV000590531 RCV000778126 RCV001554248 RCV002288621 RCV004691760
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)	SNV Germline	Chr17:61780325	Pathogenic	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Familial cancer of breast Condition: not provided Fanconi anemia complementation group J Ovarian neoplasm Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group J BRIP1-associated familial cancer predisposition Familial cancer of breast Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts	CA293947	rs_587781321	14 SubmittersRCV000129060 RCV000228701 RCV000254651 RCV000576387 RCV000589135 RCV001781464 RCV003335111 RCV003315870 RCV003387506
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_058216.3(RAD51C):c.134A>G (p.Glu45Gly)	SNV Germline	Chr17:58692777	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Condition: not provided not specified Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA163967	rs_587781383	12 SubmittersRCV000129215 RCV000167882 RCV000409379 RCV000588471 RCV001778747 RCV001798436 RCV002509232
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn)	SNV Germline	Chr17:61684098	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ovarian neoplasm Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA164119	rs_587781417	7 SubmittersRCV000129283 RCV000409964 RCV000412403 RCV000636117 RCV001775619 RCV003315873
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)	SNV Germline	Chr13:32394865	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA026155	rs_587776476	11 SubmittersRCV000129373 RCV000144220 RCV000499802 RCV001088631 RCV001114170 RCV001353675 RCV004532550
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter)	SNV Germline	Chr17:58696790	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group O Ovarian neoplasm Breast and/or ovarian cancer Endometrial carcinoma Breast-ovarian cancer, familial, susceptibility to, 3	Criteria Provided Multiple Submitters No Conflicts	CA294043	rs_587781490	9 SubmittersRCV000129454 RCV000212939 RCV000648252 RCV000785447 RCV001271006 RCV003128148 RCV003467108
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 Breast-ovarian cancer, familial, susceptibility to, 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA164765	rs_587781574	8 SubmittersRCV000129608 RCV000410493 RCV000411492 RCV000986013
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 Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA165098	rs_61757643	6 SubmittersRCV000129791 RCV000466396 RCV000424619 RCV003387768
NM_032043.3(BRIP1):c.918+1G>A	SNV Germline	Chr17:61808466	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast Breast and/or ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA165105	rs_587781655	12 SubmittersRCV000129793 RCV000434292 RCV000472419 RCV001781468 RCV003335113 RCV003492592
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 Breast-ovarian cancer, familial, susceptibility to, 3 RAD51C-related disorder Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 not specified Breast and/or ovarian cancer Condition: not provided Ovarian cancer	Criteria Provided Conflicting Classifications	CA294121	rs_140804406	13 SubmittersRCV000129799 RCV000204512 RCV003315883 RCV004734671 RCV000662365 RCV000781795 RCV003492593 RCV000212945 RCV003153419
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)	SNV Germline	Chr17:61683809	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Ovarian neoplasm Familial cancer of breast Fanconi anemia complementation group J not specified Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA165144	rs_587781666	9 SubmittersRCV000129821 RCV000662741 RCV000200144 RCV000780068 RCV003315884 RCV000758998
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 Fanconi anemia complementation group J Ovarian neoplasm Condition: not provided Fanconi anemia complementation group J Familial cancer of breast Familial cancer of breast BRIP1-associated familial cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA165277	rs_368796923	10 SubmittersRCV000129878 RCV000409609 RCV000411128 RCV000445256 RCV000701846 RCV000781179 RCV003335116
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 Hereditary cancer Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA165328	rs_542698396	11 SubmittersRCV000129907 RCV000227303 RCV000657056 RCV003492594 RCV000989972 RCV004595931
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)	SNV Germline	Chr17:61849173	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group J Familial cancer of breast 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 Fanconi anemia complementation group J Fanconi anemia complementation group J Ovarian neoplasm Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Hereditary breast ovarian cancer syndrome Neurodevelopmental delay Familial cancer of breast	Criteria Provided Conflicting Classifications	CA165626	rs_374334794	13 SubmittersRCV000130056 RCV001255230 RCV000663220 RCV001194712 RCV000699539 RCV004760390 RCV002273958 RCV003460909
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)	SNV Germline	Chr16:23630199	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Endometrial carcinoma Familial cancer of breast Fanconi anemia complementation group N Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA165693	rs_587781818	11 SubmittersRCV000130094 RCV001030649 RCV001358211 RCV000226926 RCV000302799 RCV000842453 RCV001030271
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser)	SNV Germline	Chr16:23635182	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA294158	rs_587781824	7 SubmittersRCV000130104 RCV000212792 RCV000409652 RCV001116859
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)	SNV Germline	Chr17:61808657	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Familial cancer of breast Condition: not provided Fanconi anemia complementation group J Familial cancer of breast not specified Hereditary cancer	Criteria Provided Conflicting Classifications	CA165876	rs_587781860	11 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 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA166081	rs_587781923	9 SubmittersRCV000130274 RCV000546539 RCV000989980 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 Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Breast and/or ovarian cancer Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA166193	rs_587781954	10 SubmittersRCV000130326 RCV000764051 RCV001798444 RCV000411835 RCV000481375
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)	SNV Germline	Chr17:61716002	Conflicting classifications of pathogenicity	Familial cancer of breast Fanconi anemia complementation group J Ovarian neoplasm Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group J Hereditary breast ovarian cancer syndrome Familial cancer of breast Malignant tumor of breast not specified	Criteria Provided Conflicting Classifications	CA166286	rs_45468199	12 SubmittersRCV000234009 RCV000411419 RCV000130375 RCV000218503 RCV000410258 RCV001030534 RCV003315890 RCV001356230 RCV003320104
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 Fanconi anemia complementation group J Ovarian neoplasm Condition: not provided not specified Familial cancer of breast BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA166320	rs_150313156	10 SubmittersRCV000130394 RCV000200420 RCV000662423 RCV000590600 RCV001290444 RCV003315892 RCV004532557
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)	SNV Germline	Chr16:23614059	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 5 Fanconi anemia complementation group N Condition: not provided PALB2-related disorder not specified Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA166426	rs_138273800	17 SubmittersRCV000204730 RCV000130431 RCV001355887 RCV003389456 RCV003444205 RCV000482622 RCV004544294 RCV001194140 RCV002505109
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)	SNV Germline	Chr17:43045800	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA003629	rs_587782026	8 SubmittersRCV000481196 RCV000765356 RCV000130459 RCV000168345 RCV001076289
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val)	SNV Germline	Chr13:32379387	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided BRCA2-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA025840	rs_373227180	13 SubmittersRCV000130462 RCV000233879 RCV000356690 RCV000409083 RCV000780004 RCV001775622 RCV004532561 RCV004567114
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 Breast-ovarian cancer, familial, susceptibility to, 3 Condition: not provided Fanconi anemia complementation group O	Criteria Provided Conflicting Classifications	CA166555	rs_587782045	6 SubmittersRCV000130508 RCV004567116 RCV000484566 RCV000475164
NM_032043.3(BRIP1):c.93+1G>T	SNV Germline	Chr17:61861446	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	CA166569	rs_587782047	8 SubmittersRCV000223400 RCV000558720 RCV000130514 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 Fanconi anemia complementation group D1 Breast and/or ovarian cancer Malignant tumor of breast Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA010932	rs_371454630	12 SubmittersRCV000130560 RCV000195524 RCV000238792 RCV000500188 RCV001112103 RCV001170455 RCV001353620 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 Familial cancer of breast Fanconi anemia complementation group J Condition: not provided BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA166877	rs_587782131	10 SubmittersRCV000130674 RCV000990037 RCV000547580 RCV000985642 RCV004532564
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)	SNV Germline	Chr16:23607907	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 Breast and/or ovarian cancer not specified Ovarian cancer	Criteria Provided Conflicting Classifications	CA166991	rs_201657283	11 SubmittersRCV000130728 RCV000483048 RCV000226292 RCV000764042 RCV003149901 RCV001194142 RCV003153422
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)	SNV Germline	Chr17:61793628	Conflicting classifications of pathogenicity	Familial cancer of breast Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast BRIP1-related disorder Fanconi anemia complementation group J Ovarian neoplasm Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA294222	rs_200062099	13 SubmittersRCV000469846 RCV000130729 RCV000212311 RCV000780054 RCV003315897 RCV004732695 RCV000663131 RCV001030540 RCV001124864
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 Breast-ovarian cancer, familial, susceptibility to, 5 Condition: not provided not specified Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA167050	rs_587782164	10 SubmittersRCV000130756 RCV000197454 RCV003315411 RCV000588642 RCV004595933 RCV002478396
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)	SNV Germline	Chr17:58695120	Conflicting classifications of pathogenicity	Fanconi anemia complementation group O Hereditary cancer-predisposing syndrome Condition: not provided Hereditary cancer Breast-ovarian cancer, familial, susceptibility to, 3 not specified	Criteria Provided Conflicting Classifications	CA333232	rs_370212314	9 SubmittersRCV000197831 RCV000130920 RCV000236213 RCV003492606 RCV003462005 RCV001251311
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	9 SubmittersRCV000130948 RCV000367894 RCV000464105 RCV001192822 RCV002254681 RCV004532567
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)	SNV Germline	Chr17:61780984	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast BRIP1-related disorder Familial cancer of breast Fanconi anemia complementation group J not specified	Criteria Provided Conflicting Classifications	CA167467	rs_587782254	8 SubmittersRCV000479209 RCV000130967 RCV003462006 RCV004528857 RCV000636069 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 Ovarian neoplasm Familial cancer of breast Fanconi anemia complementation group J not specified Malignant tumor of breast Hereditary breast ovarian cancer syndrome BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA167682	rs_141055990	17 SubmittersRCV000131157 RCV000220964 RCV000231925 RCV000412159 RCV003315902 RCV000411077 RCV000781177 RCV001356435 RCV002225442 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	Criteria Provided Multiple Submitters No Conflicts	CA294369	rs_574552037	14 SubmittersRCV000131417 RCV000205848 RCV000254652 RCV000588697 RCV001270930 RCV002272137 RCV003155923 RCV003335124
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)	SNV Germline	Chr17:61685976	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group J Ovarian neoplasm Familial cancer of breast Fanconi anemia complementation group J Hereditary breast ovarian cancer syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA168171	rs_587782410	14 SubmittersRCV000131449 RCV000216847 RCV000410978 RCV000412207 RCV000468535 RCV000588116 RCV002288648
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 Ovarian neoplasm Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast	Criteria Provided Conflicting Classifications	CA168226	rs_587782427	5 SubmittersRCV000131481 RCV000663002 RCV000460063 RCV003315907
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	Hereditary cancer-predisposing syndrome not specified Condition: not provided Ovarian neoplasm Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast and/or ovarian cancer BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA168409	rs_143615668	14 SubmittersRCV000131589 RCV000220020 RCV000588637 RCV000663050 RCV001082225 RCV002225445 RCV003315912 RCV003492626 RCV004532572
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)	SNV Germline	Chr17:61784279	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 Ovarian neoplasm not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA168446	rs_4988349	11 SubmittersRCV000131607 RCV000222534 RCV000465039 RCV000662789 RCV000781166 RCV002288649
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu)	SNV Germline	Chr17:61849151	Conflicting classifications of pathogenicity	Fanconi anemia complementation group J Ovarian neoplasm Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA168512	rs_61757643	8 SubmittersRCV000662676 RCV000131634 RCV000231093 RCV001559562 RCV003315913 RCV001174711
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)	SNV Germline	Chr16:23607918	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Familial cancer of breast Pancreatic cancer, susceptibility to, 3 Fanconi anemia complementation group N Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA168538	rs_142132127	19 SubmittersRCV000235868 RCV000131652 RCV000410212 RCV000657014 RCV002478400 RCV001294230
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)	SNV Germline	Chr13:32363244	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Fanconi anemia complementation group D1 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA025420	rs_587782519	11 SubmittersRCV000131690 RCV000168172 RCV000239323 RCV000781102 RCV000724545 RCV001114096 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	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Inherited ovarian cancer (without breast cancer)	Criteria Provided Multiple Submitters No Conflicts	CA294435	rs_587782528	13 SubmittersRCV000131716 RCV000196217 RCV000212932 RCV000410098 RCV000589795 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 not specified Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA012149	rs_587782535	15 SubmittersRCV000131739 RCV000198082 RCV000586148 RCV003321517 RCV001535543 RCV001170456 RCV003493458
NM_032043.3(BRIP1):c.2576-1G>A	SNV Germline	Chr17:61686166	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	CA168685	rs_587782539	5 SubmittersRCV000131744 RCV000763016 RCV003335125
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 Fanconi anemia complementation group O Condition: not provided Premature ovarian failure Breast-ovarian cancer, familial, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA168757	rs_587782565	6 SubmittersRCV000131788 RCV000232947 RCV000482155 RCV001270237 RCV003462023
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 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	11 SubmittersRCV000131789 RCV000526519 RCV001824643 RCV004998280 RCV004739459 RCV004796031
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala)	SNV Germline	Chr13:32394925	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA026176	rs_587782568	8 SubmittersRCV000131791 RCV000657154 RCV001110139 RCV000483383 RCV001110138 RCV001082356
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)	SNV Germline	Chr17:61743015	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Ovarian neoplasm Fanconi anemia complementation group J Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA168781	rs_587782574	7 SubmittersRCV000131801 RCV000519624 RCV000703456 RCV000663018 RCV003315916
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 Breast and/or ovarian cancer Condition: not provided Hereditary site-specific ovarian cancer syndrome RAD51C-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA169350	rs_587782702	18 SubmittersRCV000007225 RCV000132144 RCV000225845 RCV001798459 RCV000484863 RCV001171471 RCV004544303
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 not specified Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA024540	rs_576279166	11 SubmittersRCV000132216 RCV000203848 RCV000479638 RCV000353391 RCV000410842 RCV001284584
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser)	SNV Germline	Chr17:61857111	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Fanconi anemia complementation group J Condition: not provided BRIP1-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA169463	rs_587782734	10 SubmittersRCV000132232 RCV002267884 RCV000687515 RCV000213770 RCV004532579 RCV000990039
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 RAD51C-related disorder Condition: not provided Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 not specified Premature ovarian insufficiency	Criteria Provided Conflicting Classifications	CA333284	rs_28363307	19 SubmittersRCV000132278 RCV000204997 RCV000410651 RCV001354887 RCV004532581 RCV000235203 RCV000765376 RCV002465533 RCV000766173
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 Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA169763	rs_587782818	8 SubmittersRCV000132392 RCV000458376 RCV000763015 RCV001358380 RCV003467194 RCV004696853
NM_024675.4(PALB2):c.2834+1G>T	SNV Germline	Chr16:23624008	Pathogenic/Likely pathogenic	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 Multiple Submitters No Conflicts	CA294560	rs_587776419	8 SubmittersRCV000133481 RCV000411304 RCV000567638 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_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	8 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	10 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 Fanconi anemia not specified Malignant tumor of breast Hereditary cancer	Criteria Provided Conflicting Classifications	CA299169	rs_143181565	9 SubmittersRCV000160481 RCV000571755 RCV000709088 RCV001085038 RCV001194155 RCV001355168 RCV003492652
NM_000136.3(FANCC):c.802T>A (p.Cys268Ser)	SNV Germline	Chr9:95135387	Conflicting classifications of pathogenicity	Condition: not provided Fanconi anemia Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C	Criteria Provided Conflicting Classifications	CA299166	rs_730881718	4 SubmittersRCV000160480 RCV000459016 RCV001027088 RCV001274477
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	8 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 Fanconi anemia Hereditary cancer-predisposing syndrome Fanconi anemia complementation group A not specified Fanconi anemia complementation group C	Criteria Provided Conflicting Classifications	CA299145	rs_370346767	9 SubmittersRCV000160473 RCV000470152 RCV000564307 RCV000988216 RCV002271426 RCV002492634
NM_000136.3(FANCC):c.522-4A>G	SNV Germline	Chr9:95150091	Conflicting classifications of pathogenicity	not specified Fanconi anemia Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C FANCC-related disorder	Criteria Provided Conflicting Classifications	CA299222	rs_371422485	6 SubmittersRCV000160501 RCV000200491 RCV000561641 RCV000665085 RCV003965178
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	5 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 Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon not specified Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA299753	rs_730881894	11 SubmittersRCV000232726 RCV000570480 RCV000589198 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 Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3	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 Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA299734	rs_730881890	6 SubmittersRCV000160844 RCV000216145 RCV000555792 RCV002485001
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 Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 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 Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3	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 Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N Hereditary breast ovarian cancer syndrome PALB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA299691	rs_730881876	11 SubmittersRCV000160827 RCV000771400 RCV001238865 RCV001781504 RCV003155926 RCV004724950
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 Fanconi anemia complementation group N Carcinoma of colon PALB2-related disorder	Criteria Provided Conflicting Classifications	CA299796	rs_142103232	13 SubmittersRCV000160871 RCV000168207 RCV000220923 RCV001121722 RCV001030240 RCV004535051
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)	SNV Germline	Chr16:23635054	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Fanconi anemia complementation group N Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA185966	rs_75023630	12 SubmittersRCV000160870 RCV000200991 RCV000197379 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 Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 PALB2-related disorder	Criteria Provided Conflicting Classifications	CA299793	rs_577969558	7 SubmittersRCV000160869 RCV000216241 RCV000635626 RCV002485002 RCV004535050
NM_024675.4(PALB2):c.212-2A>G	SNV Germline	Chr16:23636336	Pathogenic/Likely pathogenic	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Fanconi anemia complementation group N Familial cancer of breast Fanconi anemia complementation group N Pancreatic cancer, susceptibility to, 3 PALB2-related disorder Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA299700	rs_730881879	12 SubmittersRCV000160830 RCV000206312 RCV000213220 RCV001781505 RCV002498799 RCV004739509 RCV004800300
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.164C>T (p.Ala55Val)	SNV Germline	Chr17:58694949	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	Criteria Provided Conflicting Classifications	CA299873	rs_730881928	7 SubmittersRCV000214683 RCV000648250 RCV000759333 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	9 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 Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 3	Criteria Provided Multiple Submitters No Conflicts	CA299885	rs_730881931	8 SubmittersRCV000160923 RCV000221514 RCV000467500 RCV000763014 RCV002307418 RCV003467269
NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)	SNV Germline	Chr17:58709883	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 Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA299861	rs_199886026	12 SubmittersRCV000160915 RCV000206770 RCV000587417 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 Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O not specified Breast-ovarian cancer, familial, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA299864	rs_730881925	11 SubmittersRCV000160916 RCV000168412 RCV000234871 RCV000663073 RCV000781789 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 Fanconi anemia complementation group O Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 3	Criteria Provided Conflicting Classifications	CA299887	rs_730881932	8 SubmittersRCV000160924 RCV000563267 RCV000807077 RCV000781796 RCV001310207
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	Criteria Provided Multiple Submitters No Conflicts	CA299893	rs_730881933	6 SubmittersRCV000160926 RCV000698614 RCV001183046 RCV003467270
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 Ovarian neoplasm Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Breast and/or ovarian cancer BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA298847	rs_367610893	12 SubmittersRCV000160327 RCV000226626 RCV000662546 RCV000573454 RCV000989974 RCV001192971 RCV003492648 RCV004544466
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	7 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 Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Ovarian neoplasm Fanconi anemia complementation group J not specified Fanconi anemia complementation group J Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298825	rs_730881622	11 SubmittersRCV000160319 RCV000212323 RCV000477092 RCV000663309 RCV000781178 RCV001194708 RCV003315951
NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)	SNV Germline	Chr17:61799183	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	CA298908	rs_148429663	7 SubmittersRCV000160350 RCV000534624 RCV000570359 RCV004786436
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	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Hereditary breast ovarian cancer syndrome Familial cancer of breast Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA298869	rs_730881633	10 SubmittersRCV000160335 RCV000212307 RCV000636104 RCV001030543 RCV003335146 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 Ovarian neoplasm Fanconi anemia complementation group J not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298828	rs_730881623	9 SubmittersRCV000160320 RCV000167936 RCV000212300 RCV000662866 RCV002298487 RCV003315952
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 Ovarian neoplasm Familial cancer of breast BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA298931	rs_45617634	9 SubmittersRCV000160363 RCV000205266 RCV000212299 RCV000409265 RCV000410368 RCV003315958 RCV004732719
NM_032043.3(BRIP1):c.93+15G>A	SNV Germline	Chr17:61861432	Conflicting classifications of pathogenicity	not specified Fanconi anemia complementation group J Fanconi anemia complementation group J Ovarian neoplasm Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA298901	rs_113052745	6 SubmittersRCV000160347 RCV000395959 RCV000662691 RCV000580716 RCV002225462 RCV002053921
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg)	SNV Germline	Chr13:32319325	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Fanconi anemia complementation group D1 Condition: not provided	Criteria Provided Conflicting Classifications	CA017418	rs_786201916	5 SubmittersRCV000164444 RCV000637554 RCV001193279 RCV001729420 RCV003441762
NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)	SNV Germline	Chr13:32337852	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Inherited breast cancer and ovarian cancer	Criteria Provided Conflicting Classifications	CA018181	rs_762886975	7 SubmittersRCV000166339 RCV001094081 RCV001356826 RCV000309640 RCV000366646 RCV004692777
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)	SNV Germline	Chr16:23629810	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N Familial cancer of breast Malignant tumor of breast not specified	Criteria Provided Conflicting Classifications	CA196135	rs_786203296	11 SubmittersRCV000166543 RCV000478256 RCV002492670 RCV000470017 RCV001355915 RCV003479039
NM_024675.4(PALB2):c.2277A>G (p.Gln759=)	SNV Germline	Chr16:23629877	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Fanconi anemia complementation group N Breast and/or ovarian cancer PALB2-related disorder	Criteria Provided Conflicting Classifications	CA193209	rs_786202524	10 SubmittersRCV000165372 RCV000614133 RCV000472744 RCV001119745 RCV003150021 RCV004535111
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)	SNV Germline	Chr16:23629926	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Fanconi anemia complementation group N not specified Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA189784	rs_141749524	11 SubmittersRCV000164010 RCV000197626 RCV000255110 RCV000296163 RCV000781684 RCV001030648 RCV003150010
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro)	SNV Germline	Chr16:23630020	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA194955	rs_765942523	5 SubmittersRCV000459199 RCV000166087 RCV002485027
NM_024675.4(PALB2):c.2100A>T (p.Ser700=)	SNV Germline	Chr16:23630054	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group N not specified Condition: not provided PALB2-related disorder	Criteria Provided Conflicting Classifications	CA190176	rs_757145884	9 SubmittersRCV000164155 RCV000200038 RCV000347505 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.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 Condition: not provided PALB2-related disorder	Criteria Provided Conflicting Classifications	CA186523	rs_786201088	8 SubmittersRCV000162589 RCV000232866 RCV001121723 RCV001818362 RCV001704155 RCV004544477
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 Familial cancer of breast Fanconi anemia complementation group N 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 not specified Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group N Condition: not provided PALB2-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA196834	rs_749494645	12 SubmittersRCV000166836 RCV000780567 RCV001030716 RCV000289282 RCV000483813 RCV004739541 RCV000989572
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)	SNV Germline	Chr16:23635717	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Carcinoma of colon Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA195935	rs_778309339	8 SubmittersRCV000235601 RCV000477600 RCV000166462 RCV001030179 RCV001336120
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 Familial cancer of breast Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA195172	rs_786203040	5 SubmittersRCV000166174 RCV000459460 RCV002485029
NM_024675.4(PALB2):c.495C>T (p.Gly165=)	SNV Germline	Chr16:23636051	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Bile duct cancer Fanconi anemia complementation group N	Criteria Provided Conflicting Classifications	CA193911	rs_200937538	14 SubmittersRCV000165654 RCV000444952 RCV000532734 RCV000679773 RCV001357741 RCV001119841
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 Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided not specified Malignant tumor of breast Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer BRCA1-related cancer predisposition	Criteria Provided Conflicting Classifications	CA002409	rs_397509100	13 SubmittersRCV000165814 RCV000411367 RCV000759525 RCV001193747 RCV001354503 RCV002485026 RCV000203862 RCV001170594 RCV004804753
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met)	SNV Germline	Chr17:43093786	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome not specified BRCA1-related cancer predisposition Condition: not provided	Criteria Provided Conflicting Classifications	CA001143	rs_786202386	11 SubmittersRCV000165167 RCV000764124 RCV001128034 RCV000227464 RCV004767104 RCV004804743 RCV001555644
NM_007294.4(BRCA1):c.20G>A (p.Arg7His)	SNV Germline	Chr17:43124077	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA001390	rs_144792613	11 SubmittersRCV000164210 RCV000543291 RCV000588310 RCV000764129 RCV001072325
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	Criteria Provided Conflicting Classifications	CA188884	rs_376403182	7 SubmittersRCV000163662 RCV000228544 RCV000479892 RCV001195006
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	9 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 Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O not specified Condition: not provided RAD51C-related disorder	Criteria Provided Conflicting Classifications	CA194603	rs_786202890	8 SubmittersRCV000165944 RCV001535599 RCV000195928 RCV000781943 RCV001576516 RCV004535123
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)	SNV Germline	Chr17:58696746	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O	Criteria Provided Conflicting Classifications	CA191975	rs_765730332	10 SubmittersRCV000164871 RCV000587056 RCV003150961 RCV001262192 RCV000226827
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 Breast-ovarian cancer, familial, susceptibility to, 3 not specified	Criteria Provided Conflicting Classifications	CA190705	rs_786201848	9 SubmittersRCV000164342 RCV000227022 RCV000986011 RCV003316020 RCV002465547
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter)	SNV Germline	Chr17:58703254	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 3	Criteria Provided Multiple Submitters No Conflicts	CA190934	rs_786201909	9 SubmittersRCV000164432 RCV000529934 RCV000657719 RCV001194263 RCV001798584 RCV003467296
NM_058216.3(RAD51C):c.635G>A (p.Arg212His)	SNV Germline	Chr17:58703259	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 3 Condition: not provided Ovarian cancer Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O	Criteria Provided Conflicting Classifications	CA198151	rs_200857129	14 SubmittersRCV000167379 RCV002295286 RCV000409423 RCV000588404 RCV003153459 RCV001030587 RCV000412279 RCV002505216
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 RAD51C-related disorder not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA191729	rs_150142859	8 SubmittersRCV000164771 RCV000198935 RCV004535104 RCV000442055 RCV001800488
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln)	SNV Germline	Chr17:58709932	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	Criteria Provided Conflicting Classifications	CA195578	rs_730881926	9 SubmittersRCV000166327 RCV001576576 RCV000529829 RCV000780668 RCV002265646
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)	SNV Germline	Chr17:58720798	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group O Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 3 not specified RAD51C-related disorder	Criteria Provided Conflicting Classifications	CA195984	rs_143026267	13 SubmittersRCV000166479 RCV000409000 RCV000657146 RCV000410543 RCV001818392 RCV004528916
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)	SNV Germline	Chr17:58724057	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group O RAD51C-related disorder 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	CA195122	rs_185057307	13 SubmittersRCV000166154 RCV000236041 RCV000227701 RCV004535124 RCV001844059 RCV000662381 RCV002291582
NM_058216.3(RAD51C):c.1128A>G (p.Leu376=)	SNV Germline	Chr17:58734219	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group O Condition: not provided	Criteria Provided Conflicting Classifications	CA196668	rs_545024029	7 SubmittersRCV000166761 RCV000423579 RCV000546857 RCV004584620
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)	SNV Germline	Chr17:61683475	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 Ovarian neoplasm Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA196415	rs_761405340	11 SubmittersRCV000781167 RCV000166662 RCV000198324 RCV000219026 RCV000662435 RCV001798598 RCV003316056
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)	SNV Germline	Chr17:61683479	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J Condition: not provided BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA191229	rs_764848326	9 SubmittersRCV000164542 RCV000432753 RCV000472623 RCV000989973 RCV001124767 RCV001704197 RCV004535101
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)	SNV Germline	Chr17:61683814	Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J	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 Ovarian neoplasm Fanconi anemia complementation group J Condition: not provided Familial cancer of breast Fanconi anemia complementation group J not specified Familial cancer of breast BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA190983	rs_763162379	8 SubmittersRCV000164450 RCV000409520 RCV000412033 RCV000520126 RCV000636160 RCV002247565 RCV003316022 RCV004528910
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)	SNV Germline	Chr17:61683996	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 Ovarian neoplasm Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA194343	rs_747907706	10 SubmittersRCV000165849 RCV000231204 RCV000586787 RCV000662372 RCV001262876 RCV001549276
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)	SNV Germline	Chr17:61684132	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Ovarian neoplasm Familial cancer of breast Condition: not provided Familial cancer of breast Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA195885	rs_786203224	7 SubmittersRCV000166442 RCV000662959 RCV000989986 RCV002259316 RCV000472014
NM_032043.3(BRIP1):c.2893A>C (p.Arg965=)	SNV Germline	Chr17:61685848	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J 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 Ovarian neoplasm Fanconi anemia complementation group J not specified Familial cancer of breast BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA189776	rs_786201632	7 SubmittersRCV000164008 RCV000197368 RCV000662667 RCV001797647 RCV003316014 RCV004732724
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)	SNV Germline	Chr17:61685930	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Fanconi anemia complementation group J not specified Breast and/or ovarian cancer BRIP1-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA187400	rs_374335608	13 SubmittersRCV000163081 RCV000233012 RCV000374312 RCV000440198 RCV003492667 RCV004535063 RCV004791288
NM_032043.3(BRIP1):c.2723C>T (p.Thr908Ile)	SNV Germline	Chr17:61686018	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA190975	rs_786201919	5 SubmittersRCV000164448 RCV000586440 RCV000699974
NM_032043.3(BRIP1):c.2258-3A>G	SNV Germline	Chr17:61743137	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Familial cancer of breast Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA197042	rs_786203561	5 SubmittersRCV000166925 RCV000506334 RCV003474883 RCV000472114
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)	SNV Germline	Chr17:61744589	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	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	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	CA194780	rs_786202941	6 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 Familial cancer of breast Fanconi anemia complementation group J Familial cancer of breast Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA191781	rs_765314472	6 SubmittersRCV000164796 RCV000457977 RCV000999642 RCV000217145 RCV003493473
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)	SNV Germline	Chr17:61780365	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Fanconi anemia complementation group J Ovarian neoplasm Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA194306	rs_777741543	8 SubmittersRCV000165836 RCV000233742 RCV000662932 RCV000480949 RCV003230262
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)	SNV Germline	Chr17:61784346	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Fanconi anemia complementation group J Condition: not provided	Criteria Provided Conflicting Classifications	CA190066	rs_786201701	6 SubmittersRCV000164112 RCV000439785 RCV000475560 RCV001356649
NM_032043.3(BRIP1):c.1474-3T>C	SNV Germline	Chr17:61784427	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 not specified BRIP1-related disorder Familial cancer of breast Fanconi anemia complementation group J Ovarian neoplasm	Criteria Provided Conflicting Classifications	CA192215	rs_552752779	14 SubmittersRCV000164980 RCV000348888 RCV000589721 RCV001085989 RCV000430204 RCV004535106 RCV003316033 RCV000662494
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)	SNV Germline	Chr17:61808634	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Fanconi anemia complementation group J Ovarian neoplasm Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group J Familial cancer of breast BRIP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA193144	rs_752309409	15 SubmittersRCV000165345 RCV000219928 RCV000206065 RCV000662796 RCV002225482 RCV001781512 RCV003316042 RCV004732727
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)	SNV Germline	Chr17:61808696	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Ovarian neoplasm Fanconi anemia complementation group J not specified	Criteria Provided Conflicting Classifications	CA195418	rs_759031349	14 SubmittersRCV000515765 RCV000166271 RCV001086889 RCV000386668 RCV000409005 RCV000411446 RCV001328338
NM_032043.3(BRIP1):c.668A>G (p.Gln223Arg)	SNV Germline	Chr17:61808717	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J Condition: not provided	Criteria Provided Conflicting Classifications	CA197560	rs_786203708	4 SubmittersRCV000167128 RCV001241245 RCV001284464
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter)	SNV Germline	Chr17:61808718	Pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Fanconi anemia complementation group J	Criteria Provided Multiple Submitters No Conflicts	CA190233	rs_786201733	3 SubmittersRCV000164174 RCV003335154 RCV003765019
NM_032043.3(BRIP1):c.638A>G (p.His213Arg)	SNV Germline	Chr17:61808747	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 BRIP1-related disorder	Criteria Provided Conflicting Classifications	CA195347	rs_376760085	7 SubmittersRCV000205783 RCV000166239 RCV001194200 RCV000217577 RCV003462205 RCV004724959
NM_032043.3(BRIP1):c.550G>A (p.Asp184Asn)	SNV Germline	Chr17:61847178	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia complementation group J	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 Familial cancer of breast Fanconi anemia complementation group J 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	Familial cancer of breast Fanconi anemia complementation group J Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Gastric cancer BRIP1-related disorder Condition: not provided Fanconi anemia complementation group J Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA194744	rs_747604569	11 SubmittersRCV000198978 RCV000588178 RCV000166003 RCV003162707 RCV004539556 RCV000484711 RCV001781513 RCV003335159
NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro)	SNV Germline	Chr17:61857067	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Fanconi anemia complementation group J	Criteria Provided Conflicting Classifications	CA192862	rs_45617634	4 SubmittersRCV000165248 RCV002307422 RCV000460048
NM_032043.3(BRIP1):c.249A>G (p.Gln83=)	SNV Germline	Chr17:61857188	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J BRIP1-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA188832	rs_45528833	10 SubmittersRCV000163644 RCV000178374 RCV001084487 RCV004539533 RCV004786449
NM_032043.3(BRIP1):c.206-2A>G	SNV Germline	Chr17:61857233	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Fanconi anemia complementation group J Ovarian neoplasm Fanconi anemia complementation group J BRIP1-related disorder Fanconi anemia complementation group J Ovarian neoplasm Familial cancer of breast	Criteria Provided Conflicting Classifications	CA197546	rs_786203700	10 SubmittersRCV000167120 RCV000214974 RCV000526148 RCV001310101 RCV001781516 RCV004732730 RCV000576661 RCV003462235
NM_032043.3(BRIP1):c.1A>G (p.Met1Val)	SNV Germline	Chr17:61861539	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Ovarian neoplasm Familial cancer of breast Fanconi anemia complementation group J Condition: not provided Genetic non-acquired premature ovarian failure Ovarian cancer	Criteria Provided Conflicting Classifications	CA197496	rs_764585550	8 SubmittersRCV000167101 RCV000410570 RCV000411221 RCV000474167 RCV000484413 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	Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group C Fanconi anemia	Criteria Provided Conflicting Classifications	CA334694	rs_587778327	5 SubmittersRCV000482249 RCV001025063 RCV003144145 RCV000168381
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)	SNV Germline	Chr16:23635230	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Pancreatic cancer, susceptibility to, 3 Familial cancer of breast Fanconi anemia complementation group N not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA334035	rs_537258442	13 SubmittersRCV000167944 RCV000565232 RCV000765276 RCV001818401 RCV000588409
NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr)	SNV Germline	Chr16:23635431	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	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	2 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 Breast-ovarian cancer, familial, susceptibility to, 3 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA334598	rs_573992101	12 SubmittersRCV000168314 RCV000408982 RCV000446053 RCV002485046 RCV000656962 RCV003155099
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 Hereditary cancer-predisposing syndrome Fanconi anemia complementation group J Ovarian neoplasm Condition: not provided not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA334612	rs_565458815	10 SubmittersRCV000168335 RCV000222015 RCV000662572 RCV001546767 RCV000506651 RCV003316070
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	10 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 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274274	rs_781542763	8 SubmittersRCV000169411 RCV001213440 RCV002345568 RCV003441768
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)	SNV Germline	Chr9:95249227	Pathogenic/Likely pathogenic	Fanconi anemia complementation group C Hereditary cancer-predisposing syndrome Fanconi anemia FANCC-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274137	rs_377294947	10 SubmittersRCV000169293 RCV002362865 RCV001390247 RCV003407628 RCV004719732
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)	SNV Germline	Chr16:89767185	Pathogenic/Likely pathogenic	Fanconi anemia complementation group A Fanconi anemia	Criteria Provided Multiple Submitters No Conflicts	CA274891	rs_752160950	7 SubmittersRCV000173013 RCV000630944
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	8 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	6 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 Condition: not provided FANCI-related disorder	Criteria Provided Conflicting Classifications	CA207035	rs_145762491	10 SubmittersRCV000193501 RCV000231441 RCV001121009 RCV001532265 RCV003977514
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys)	SNV Germline	Chr9:95101789	Conflicting classifications of pathogenicity	Fanconi anemia Condition: not provided Fanconi anemia complementation group C Ovarian cancer Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA339012	rs_55939573	6 SubmittersRCV000199976 RCV000520121 RCV001167954 RCV003153471 RCV001012322
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	8 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 Fanconi anemia complementation group C Hereditary cancer-predisposing syndrome not specified FANCC-related disorder	Criteria Provided Conflicting Classifications	CA339272	rs_369082921	8 SubmittersRCV000200370 RCV000486099 RCV000666113 RCV001017767 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_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln)

SNV
Germline

Chr15:89315319

Pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

CA251642

rs_121918163

3 SubmittersRCV000001023

NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)

SNV
Germline

Chr15:89315318

Pathogenic

Fanconi anemia complementation group I
Condition: not provided
Fanconi anemia
FANCI-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA251645

rs_121918164

9 SubmittersRCV000001024 RCV000584965 RCV001384910 RCV004754232

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251717

rs_118203997

12 SubmittersRCV000001302 RCV000217204 RCV000235772 RCV000476387

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

SNV
Germline

Chr16:23603471

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA151250

rs_118203998

23 SubmittersRCV000001304 RCV000001305 RCV000114634 RCV000121742 RCV000129158 RCV000212830 RCV001355428 RCV004528063

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

SNV
Germline

Chr16:23623003

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA164468

rs_118203999

9 SubmittersRCV000001306 RCV000001307 RCV000129469 RCV000662710 RCV000657596

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
Ovarian neoplasm
Condition: not provided
BRIP1-related disorder
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA117038

rs_28903098

31 SubmittersRCV000005002 RCV000116124 RCV000200979 RCV000199377 RCV000409748 RCV000410864 RCV000587908 RCV000778130 RCV000990044 RCV001090025 RCV003149563

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

SNV
Germline

Chr17:61716051

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253268

rs_137852986

39 SubmittersRCV000005004 RCV000116139 RCV000409918 RCV000212324 RCV000205436 RCV000312325 RCV000504276 RCV000515368 RCV000778127 RCV000989994 RCV001535465 RCV001355458 RCV003149564 RCV003155909 RCV003162209

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

6 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
Condition: not provided
FANCG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340606

rs_149616199

10 SubmittersRCV000007109 RCV000630837 RCV001564939 RCV004748504

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

SNV
Germline

Chr17:58709926

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA168628

rs_267606997

12 SubmittersRCV000007224 RCV000131703 RCV000506412 RCV001194260 RCV003315500

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

Criteria Provided
Multiple Submitters
No Conflicts

CA118528

rs_267606999

11 SubmittersRCV000007227 RCV000129800 RCV000648269 RCV000662981 RCV001195017

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

Criteria Provided
Multiple Submitters
No Conflicts

CA025134

rs_80358979

11 SubmittersRCV000009936 RCV000113772 RCV000509658 RCV000478444 RCV001290186

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

Reviewed By Expert Panel

CA026028

rs_80359180

23 SubmittersRCV000009941 RCV000077463 RCV000131052 RCV000235644 RCV000257912 RCV000210196 RCV001357808 RCV003460449 RCV004802932

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

SNV
Germline

Chr13:32326614

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
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 cancer-predisposing syndrome
Hereditary breast ovarian cancer 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

22 SubmittersRCV000009943 RCV000031615 RCV000044897 RCV000129071 RCV000195357 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

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 complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA256197

rs_121917787

6 SubmittersRCV000012820 RCV000809924

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

15 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
Fanconi anemia
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
FANCC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA287223

rs_121917783

13 SubmittersRCV000012824 RCV000115356 RCV000471314 RCV000568180 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/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

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

19 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
Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Condition: not provided
XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
XFE progeroid syndrome
Hutchinson-Gilford syndrome
Breast carcinoma
Carcinoma of pancreas
Fanconi anemia complementation group Q
Xeroderma pigmentosum
ERCC4-related disorder

Criteria Provided
Conflicting Classifications

CA126686

rs_121913049

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

NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)

SNV
Germline/somatic

Chr17:43106487

Pathogenic

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

Reviewed By Expert Panel

CA001182

rs_28897672

59 SubmittersRCV000019229 RCV000239114 RCV000415051 RCV001270967 RCV000047597 RCV000131902 RCV000412714 RCV000763010 RCV000785199 RCV004802937 RCV000159935

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

SNV
Germline

Chr17:43082434

Pathogenic

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

Reviewed By Expert Panel

CA002769

rs_41293455

48 SubmittersRCV000239083 RCV000019244 RCV000131880 RCV000763000 RCV001353404 RCV004802942 RCV000159989 RCV000735445 RCV000048523 RCV000235131

NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)

SNV
Germline/somatic

Chr17:43106457

Pathogenic

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

Reviewed By Expert Panel

CA001398

rs_80357382

33 SubmittersRCV000019263 RCV000195359 RCV000469732 RCV000508177 RCV004802945 RCV000047713 RCV000763009 RCV000131899 RCV004758595

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

Criteria Provided
Multiple Submitters
No Conflicts

CA157735

rs_149364097

15 SubmittersRCV000023492 RCV000120412 RCV000131544 RCV000216316 RCV000466014 RCV000761010 RCV002271374 RCV003335053 RCV004528133

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

SNV
Germline

Chr16:3600977

Pathogenic

Fanconi anemia complementation group P

No Assertion Criteria Provided

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

rs_1569083185

2 SubmittersRCV000030703

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

Reviewed By Expert Panel

CA000895

rs_80358158

20 SubmittersRCV000030985 RCV000047435 RCV000131843 RCV000236913 RCV001358046 RCV002504838 RCV004566758

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

SNV
Germline

Chr17:43093844

Pathogenic

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

Reviewed By Expert Panel

CA001106

rs_80356898

52 SubmittersRCV000031007 RCV000047559 RCV000131897 RCV000159956 RCV000238721 RCV000415155 RCV000763006 RCV000770747 RCV000786987 RCV000785207 RCV003128130 RCV004554614 RCV004802954

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

SNV
Germline

Chr17:43104968

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Ovarian neoplasm
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
BRCA1-related disorder

Reviewed By Expert Panel

CA001426

rs_80358163

30 SubmittersRCV000031031 RCV000047726 RCV000131900 RCV000167772 RCV000505888 RCV000785201 RCV001270969 RCV002504839 RCV004758604

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

Reviewed By Expert Panel

CA001689

rs_80357131

13 SubmittersRCV000031056 RCV000047880 RCV000223464 RCV000657621 RCV002496473

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

SNV
Germline

Chr17:43099876

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA002865

rs_397507233

15 SubmittersRCV000031175 RCV000240737 RCV000219296 RCV000458634 RCV000479398 RCV000764128 RCV001357250 RCV002267803 RCV004758612

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

Reviewed By Expert Panel

CA003193

rs_80358053

18 SubmittersRCV000031210 RCV000048764 RCV000131833 RCV000481404 RCV001353952 RCV004795939

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

Reviewed By Expert Panel

CA003235

rs_41293459

49 SubmittersRCV000031217 RCV000048790 RCV000131564 RCV000195350 RCV000735446 RCV000785422 RCV002250479 RCV002496477 RCV003162265 RCV004554634 RCV004802991

NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)

SNV
Germline

Chr17:43057122

Pathogenic

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

Reviewed By Expert Panel

CA003357

rs_45553935

23 SubmittersRCV000031229 RCV000048857 RCV000131291 RCV000195366 RCV000585878

NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)

SNV
Germline

Chr13:32332938

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012131

rs_56390402

17 SubmittersRCV000031322 RCV000131573 RCV000679155 RCV001082494 RCV001109419 RCV001818198

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

Criteria Provided
Conflicting Classifications

CA013307

rs_80358463

14 SubmittersRCV000031339 RCV000130469 RCV000168530 RCV001082266 RCV001114847 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
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fanconi anemia complementation group D1

Criteria Provided
Conflicting Classifications

CA014722

rs_397507283

13 SubmittersRCV000031359 RCV000204756 RCV000215823 RCV000487003 RCV000657147 RCV001112185

NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)

SNV
Germline

Chr13:32337273

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016775

rs_397507296

13 SubmittersRCV000031388 RCV000165120 RCV000220429 RCV000471898 RCV000781108 RCV001111816 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
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA020880

rs_80358705

16 SubmittersRCV000031508 RCV000044498 RCV000074530 RCV000130783 RCV001353552 RCV001112023 RCV003492312

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

Criteria Provided
Conflicting Classifications

CA021201

rs_80358730

17 SubmittersRCV000031522 RCV000044547 RCV000074532 RCV000129126 RCV001111540 RCV001281705 RCV001798044 RCV004541040

NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)

SNV
Germline

Chr13:32340486

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023684

rs_56191579

17 SubmittersRCV000031601 RCV000166682 RCV000586884 RCV000768600 RCV001085159 RCV001330945 RCV001353819 RCV004562221

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

Criteria Provided
Conflicting Classifications

CA023686

rs_56191579

16 SubmittersRCV000031602 RCV000044854 RCV000130525 RCV000421588 RCV000413633 RCV001112564 RCV001086174 RCV001358172 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
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA024168

rs_56019712

15 SubmittersRCV000031634 RCV000044985 RCV000129413 RCV000589601 RCV001081092 RCV001109884 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

Reviewed By Expert Panel

CA024713

rs_28897743

35 SubmittersRCV000009923 RCV000031659 RCV000045112 RCV000131031 RCV000174440 RCV000475925 RCV000735595 RCV002496486 RCV004732575

NM_000059.4(BRCA2):c.7977-1G>C

SNV
Germline

Chr13:32363178

Pathogenic

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

Reviewed By Expert Panel

CA025372

rs_81002874

21 SubmittersRCV000031714 RCV000045368 RCV000162588 RCV000486971 RCV000507368 RCV003473215 RCV003483442 RCV004566780

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 breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions
BRCA2-related disorder
Gastric cancer
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA025677

rs_397507404

26 SubmittersRCV000009920 RCV000031747 RCV000160152 RCV000231355 RCV000213906 RCV000763329 RCV002221480 RCV003162283 RCV003473221 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
Hereditary cancer-predisposing syndrome
not specified
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 RCV000131022 RCV000152885 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
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025983

rs_202155613

12 SubmittersRCV000031795 RCV000074559 RCV000223314 RCV000344086 RCV000289162 RCV002271381 RCV002250496

NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)

SNV
Germline

Chr13:32332434

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA026214

rs_55939572

19 SubmittersRCV000031831 RCV000045855 RCV000162692 RCV000735629 RCV000758980 RCV001109312 RCV001083417 RCV001357124 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
Fanconi anemia complementation group D1
Malignant tumor of pancreas
Malignant tumor of breast
not specified
Familial cancer of breast
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA023912

rs_79456940

20 SubmittersRCV000034454 RCV000113573 RCV000129753 RCV000195307 RCV000240685 RCV000406166 RCV000677821 RCV001353658 RCV001818210 RCV002250503 RCV004541066

NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)

SNV
Germline

Chr13:32332490

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010336

rs_80358396

13 SubmittersRCV000043719 RCV000112875 RCV000509731 RCV000759572 RCV001111640 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
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA011324

rs_80358418

12 SubmittersRCV000077253 RCV000129196 RCV001112107 RCV001394892 RCV001284073 RCV004700317

NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)

SNV
Germline

Chr13:32336961

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015810

rs_80358523

9 SubmittersRCV000113070 RCV000163028 RCV001109534 RCV001339978 RCV001357214 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
Malignant tumor of breast
BRCA2-related disorder
Ovarian neoplasm
8 conditions
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA016531

rs_80358533

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

NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly)

SNV
Germline

Chr13:32337492

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017285

rs_80358559

10 SubmittersRCV000044123 RCV000113138 RCV000129709 RCV000483875 RCV000779942 RCV001535463

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

SNV
Germline

Chr13:32325082

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017610

rs_80358568

14 SubmittersRCV000077298 RCV000166938 RCV000221445 RCV000315720 RCV001356621 RCV001372390 RCV002250509 RCV002267810

NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr)

SNV
Germline

Chr13:32338179

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018880

rs_80358625

12 SubmittersRCV000044272 RCV000083101 RCV000132466 RCV000985512 RCV001112374 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
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA020526

rs_80358694

17 SubmittersRCV000044452 RCV000077330 RCV000129285 RCV000212237 RCV000413529 RCV001109714 RCV001281727 RCV001353885 RCV003149681

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

Criteria Provided
Conflicting Classifications

CA022780

rs_55996097

22 SubmittersRCV000077357 RCV000129072 RCV000167807 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 cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA023455

rs_80358833

19 SubmittersRCV000044813 RCV000077366 RCV000129689 RCV000195331 RCV000318984 RCV000859013 RCV004537198

NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)

SNV
Germline

Chr13:32340456

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023655

rs_80358849

12 SubmittersRCV000083122 RCV000120341 RCV000166225 RCV001110580 RCV001374119 RCV001529429

NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys)

SNV
Germline

Chr13:32340636

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023819

rs_397507838

11 SubmittersRCV000083125 RCV000580567 RCV000486364 RCV000709324 RCV000759639 RCV003225719

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

Criteria Provided
Conflicting Classifications

CA023867

rs_56172926

25 SubmittersRCV000044901 RCV000077370 RCV000131282 RCV001112565 RCV001085349 RCV001705700 RCV003492360 RCV004803870

NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)

SNV
Germline

Chr13:32340767

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024008

rs_11571659

28 SubmittersRCV000044938 RCV000077373 RCV000120342 RCV000128955 RCV000311226 RCV000656613 RCV000414271 RCV003149687 RCV004803872

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
8 conditions
not specified
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024312

rs_41293503

18 SubmittersRCV000045026 RCV000083129 RCV000165940 RCV000216299 RCV000763895 RCV000781142 RCV001109885 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
not specified
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024315

rs_80358895

10 SubmittersRCV000113631 RCV000130198 RCV000212251 RCV000656798 RCV001110667 RCV001351104

NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)

SNV
Germline

Chr13:32341140

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024407

rs_80358904

12 SubmittersRCV000077383 RCV000162802 RCV000225748 RCV001110668 RCV001284581 RCV001818218

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

SNV
Germline

Chr13:32341176

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024458

rs_55712212

28 SubmittersRCV000045064 RCV000074551 RCV000077387 RCV000131679 RCV000735591 RCV001270288 RCV002294006 RCV001110669 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
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA024716

rs_28897743

17 SubmittersRCV000045113 RCV000077394 RCV000214499 RCV000256059 RCV000475905 RCV001269283 RCV001171445 RCV001353724 RCV001310135

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

Criteria Provided
Conflicting Classifications

CA025098

rs_80358969

10 SubmittersRCV000113764 RCV000164219 RCV000759655 RCV001110755 RCV001305633 RCV004803897 RCV004566836

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

SNV
Germline

Chr13:32362705

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
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA025363

rs_81002827

13 SubmittersRCV000045362 RCV000113847 RCV000129688 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
Fanconi anemia complementation group D1
Malignant tumor of breast
Breast and/or ovarian cancer
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA025521

rs_80359069

19 SubmittersRCV000045453 RCV000077431 RCV000129733 RCV000214196 RCV001080912 RCV001110061 RCV001353878 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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA025663

rs_80359097

13 SubmittersRCV000045529 RCV000077440 RCV000164639 RCV001114949 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
Hearing impairment
Cerebral palsy
Neurodevelopmental delay
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
BRCA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA025672

rs_81002806

12 SubmittersRCV000113945 RCV000502951 RCV000571631 RCV001007900 RCV000985604 RCV001379438 RCV002272042 RCV003483454 RCV004732632

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

SNV
Germline

Chr13:32379412

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA025850

rs_28897754

31 SubmittersRCV000045642 RCV000114008 RCV000120366 RCV000162603 RCV000679194 RCV001112820 RCV001170977 RCV004803924 RCV004528254

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

Criteria Provided
Conflicting Classifications

CA026037

rs_80359186

10 SubmittersRCV000045750 RCV000077464 RCV000130237 RCV000326170 RCV000656811 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
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1

Criteria Provided
Conflicting Classifications

CA026215

rs_55939572

15 SubmittersRCV000045856 RCV000083161 RCV000128972 RCV000587951 RCV000735630 RCV001080083 RCV001109313

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

Reviewed By Expert Panel

CA000742

rs_80356880

7 SubmittersRCV000111781 RCV000763401 RCV002433536 RCV001378528

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.1292T>G (p.Leu431Ter)

SNV
Germline

Chr17:43094239

Pathogenic

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

Reviewed By Expert Panel

CA000845

rs_80357346

5 SubmittersRCV000111583 RCV000767398 RCV002381345

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

Reviewed By Expert Panel

CA000862

rs_80357446

25 SubmittersRCV000077487 RCV000166901 RCV000434130 RCV000496386 RCV000735465 RCV000763011

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

Criteria Provided
Conflicting Classifications

CA000918

rs_62625300

12 SubmittersRCV000047448 RCV000111599 RCV000148411 RCV000215677 RCV000679681 RCV000764125

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
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
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.2050C>T (p.Pro684Ser)

SNV
Germline

Chr17:43093481

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA001361

rs_397508934

12 SubmittersRCV000047694 RCV000130395 RCV000485811 RCV000586501 RCV000764123 RCV000768616 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
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA001420

rs_80356913

11 SubmittersRCV000112023 RCV000503702 RCV001180531 RCV001384425 RCV004795985

NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)

SNV
Germline

Chr17:43093222

Pathogenic

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

Reviewed By Expert Panel

CA001536

rs_80357063

15 SubmittersRCV000047791 RCV000077513 RCV000222520 RCV000445000 RCV002496716

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

SNV
Germline

Chr17:43104928

Pathogenic

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

Reviewed By Expert Panel

CA001613

rs_80357350

13 SubmittersRCV000047834 RCV000112105 RCV000735472 RCV000763008 RCV001015488 RCV003321493 RCV001353463

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

SNV
Germline

Chr17:43092809

Pathogenic

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

Reviewed By Expert Panel

CA001792

rs_80356978

30 SubmittersRCV000047943 RCV000074576 RCV000077527 RCV000131878 RCV000148387 RCV000735484 RCV000763005

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

SNV
Germline

Chr17:43092434

Pathogenic

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

Reviewed By Expert Panel

CA002029

rs_273899698

6 SubmittersRCV000077538 RCV000216019 RCV000763004

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
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
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.3598C>T (p.Gln1200Ter)

SNV
Germline

Chr17:43091933

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
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
not specified
BRCA1-related disorder

Reviewed By Expert Panel

CA002296

rs_62625307

23 SubmittersRCV000048245 RCV000077552 RCV000131819 RCV000159977 RCV000763003 RCV001001611 RCV004554663

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

Reviewed By Expert Panel

CA002328

rs_80356923

19 SubmittersRCV000112143 RCV000413182 RCV000562775 RCV000758815 RCV001271013 RCV000779886 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
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
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

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
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

Reviewed By Expert Panel

CA002504

rs_80357440

11 SubmittersRCV000077557 RCV000162869 RCV000212178 RCV000587766 RCV000763002

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

Reviewed By Expert Panel

CA002562

rs_80357475

10 SubmittersRCV000048405 RCV000111552 RCV000131890 RCV000763402 RCV001357041

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

SNV
Germline

Chr17:43074522

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA002878

rs_80358189

14 SubmittersRCV000112343 RCV000235386 RCV000496695 RCV000580034 RCV000762999 RCV001171415 RCV001353957

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

SNV
Germline

Chr17:43074482

Pathogenic

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

Reviewed By Expert Panel

CA002893

rs_80356885

29 SubmittersRCV000048586 RCV000077575 RCV000129129 RCV000236102 RCV001001033 RCV000762998 RCV003492388 RCV004584141

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

SNV
Germline

Chr17:43074330

Pathogenic

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

Reviewed By Expert Panel

CA002957

rs_80358044

29 SubmittersRCV000048623 RCV000077582 RCV000131822 RCV000225764 RCV000414441 RCV000735555 RCV000762997

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

SNV
Germline

Chr17:43067614

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
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
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA003183

rs_397507239

15 SubmittersRCV000048756 RCV000077592 RCV000130370 RCV000240688 RCV000225765 RCV000656791 RCV000765357 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
Breast and/or ovarian cancer
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
Multiple Submitters
No Conflicts

CA003197

rs_80358181

16 SubmittersRCV000112483 RCV000255098 RCV000496317 RCV001271029 RCV001378309 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
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group A
Ovarian cancer
Familial cancer of breast
Fanconi anemia, complementation group S
Endometrial carcinoma
Malignant tumor of breast
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003234

rs_55770810

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

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

SNV
Germline

Chr17:43063361

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA003318

rs_80357104

19 SubmittersRCV000048839 RCV000077606 RCV000214443 RCV000236284 RCV001354040 RCV002490620

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
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003343

rs_80358079

11 SubmittersRCV000048851 RCV000077608 RCV000583637 RCV000762996 RCV001171437 RCV004566894

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

SNV
Germline

Chr17:43057078

Pathogenic

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

Reviewed By Expert Panel

CA003389

rs_80357123

45 SubmittersRCV000048882 RCV000074600 RCV000077611 RCV000162884 RCV000414226 RCV000763399 RCV000786961 RCV001270975

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

Criteria Provided
Multiple Submitters
No Conflicts

CA003394

rs_80357074

6 SubmittersRCV000112581 RCV000563666 RCV001326888 RCV003321495 RCV004819215

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

SNV
Germline

Chr17:43049195

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA003494

rs_80358126

7 SubmittersRCV000169281 RCV000758843 RCV001384038 RCV002345349 RCV004795989

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

Reviewed By Expert Panel

CA003599

rs_80356962

33 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

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

Reviewed By Expert Panel

CA003674

rs_41293465

49 SubmittersRCV000049020 RCV000077627 RCV000131862 RCV000203652 RCV000238956 RCV000240766 RCV000735447 RCV000785213 RCV001353835 RCV001527479 RCV001554249 RCV002496720 RCV003162421 RCV004772834

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

Criteria Provided
Conflicting Classifications

CA003942

rs_80357039

9 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
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
ERCC4-Related Disorders
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA143933

rs_149364215

4 SubmittersRCV000049245 RCV001067959 RCV004700343 RCV003144119

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
XFE progeroid syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Xeroderma pigmentosum
ERCC4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA143941

rs_147105770

6 SubmittersRCV000049250 RCV000700109 RCV000762956 RCV002222373 RCV003415812

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

SNV
Germline

Chr17:43091976

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA002273

rs_587779368

10 SubmittersRCV000074581 RCV000077551 RCV000165151 RCV000469806 RCV000765363 RCV000766573

NM_000059.4(BRCA2):c.608C>A (p.Thr203Asn)

SNV
Germline

Chr13:32326590

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023638

rs_398122547

7 SubmittersRCV000076954 RCV000471187 RCV000509879 RCV000758918 RCV001113535

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

SNV
Germline

Chr13:32340895

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024153

rs_398122560

12 SubmittersRCV000076969 RCV000131800 RCV000160235 RCV000234409 RCV001109883 RCV003477474

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

SNV
Germline

Chr17:43091477

Pathogenic

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

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA003521

rs_398122697

14 SubmittersRCV000077166 RCV000159852 RCV000465437 RCV000509661 RCV000766591 RCV004796005

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

SNV
Germline

Chr13:32333240

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
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 RCV000160207 RCV000163030 RCV000531905 RCV001109420 RCV001353480 RCV001703984

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

SNV
Germline

Chr13:32336541

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014563

rs_431825296

13 SubmittersRCV000240800 RCV000637814 RCV000677830 RCV000758870 RCV000763882 RCV001112184 RCV002298468 RCV000082901 RCV000166578

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

SNV
Germline

Chr13:32337581

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017586

rs_431825304

13 SubmittersRCV000222899 RCV000588617 RCV000799401 RCV001113630 RCV002247480 RCV004732659 RCV000082909

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
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA025963

rs_80359161

9 SubmittersRCV000114042 RCV000129295 RCV000758971 RCV001568367 RCV001055261 RCV003460793

NC_000016.10:g.23641315C>G

SNV
Germline

Chr16:23641315

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA269467

rs_138200248

4 SubmittersRCV000282144 RCV000374410 RCV000829438 RCV001030094

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

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

Criteria Provided
Conflicting Classifications

CA151212

rs_45494092

28 SubmittersRCV000755592 RCV001116860 RCV001354445 RCV001798291 RCV000114450 RCV000121752 RCV000127306

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

SNV
Germline

Chr16:23637951

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288386

rs_202194596

13 SubmittersRCV000212768 RCV000780571 RCV002483177 RCV004739369 RCV000114460 RCV000116061

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

SNV
Germline

Chr16:23635401

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

CA269483

rs_515726063

11 SubmittersRCV000483203 RCV000567033 RCV002483178 RCV000114461

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

SNV
Germline

Chr16:23635352

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA151219

rs_61755173

27 SubmittersRCV000212786 RCV000327932 RCV000588666 RCV001170350 RCV001357080 RCV000114462 RCV000127307

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

SNV
Germline

Chr16:23641147

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288392

rs_45619737

14 SubmittersRCV000515208 RCV000590674 RCV001798292 RCV001358373 RCV001797625 RCV004739370 RCV000114464 RCV000116063

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

SNV
Germline

Chr16:23630455

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288416

rs_370422990

16 SubmittersRCV000588850 RCV001171429 RCV001292820 RCV004529918 RCV000114495 RCV000116072

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
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA163823

rs_180177112

14 SubmittersRCV000114524 RCV000129116 RCV000236024 RCV001781442 RCV003330435

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

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

Criteria Provided
Conflicting Classifications

CA167879

rs_45476495

19 SubmittersRCV000483553 RCV000587708 RCV001118198 RCV003483473 RCV004739374 RCV000114549 RCV000131257

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

Criteria Provided
Multiple Submitters
No Conflicts

CA269561

rs_180177122

12 SubmittersRCV000114552 RCV000255170 RCV000562748 RCV002498481 RCV004782240

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

SNV
Germline

Chr16:23624070

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA164110

rs_180177125

13 SubmittersRCV000235847 RCV000764047 RCV001798299 RCV000114558 RCV000129279

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

SNV
Germline

Chr16:23624027

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA151239

rs_45478192

33 SubmittersRCV000306515 RCV000417395 RCV000586156 RCV001170349 RCV001356702 RCV004528790 RCV004760375 RCV000114561 RCV000116092

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

SNV
Germline

Chr16:23623114

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA161355

rs_149522412

18 SubmittersRCV000397940 RCV000589520 RCV001030355 RCV000121763 RCV000129725

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

SNV
Germline

Chr16:23636248

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288454

rs_61756147

17 SubmittersRCV000212772 RCV001119843 RCV001249253 RCV001192907 RCV001355228 RCV003492442 RCV004528791 RCV000114577 RCV000116095

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

SNV
Germline

Chr16:23621362

Pathogenic

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

Reviewed By Expert Panel

CA251004

rs_180177132

32 SubmittersRCV000116096 RCV000114591 RCV000144703 RCV000212822 RCV000588093 RCV001535480 RCV001171469 RCV003492443 RCV003389455 RCV004528792 RCV004577322 RCV004584191 RCV004584192

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

SNV
Germline

Chr16:23636231

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288463

rs_515726108

15 SubmittersRCV001174951 RCV002490766 RCV004529924 RCV000114600 RCV000116099 RCV000212773

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

SNV
Germline

Chr16:23607963

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239946

rs_62625271

17 SubmittersRCV000656940 RCV000764043 RCV001116749 RCV001358132 RCV003493439 RCV004739377 RCV000114610 RCV000160852

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

SNV
Germline

Chr16:23607958

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA211207

rs_587776527

22 SubmittersRCV000114612 RCV000160853 RCV000168017 RCV000212825 RCV001030644 RCV002307393 RCV002490767 RCV003149788 RCV003162531 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.3428T>A (p.Leu1143His)

SNV
Germline

Chr16:23603592

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288478

rs_62625284

21 SubmittersRCV000585950 RCV001004833 RCV000764041 RCV001804169 RCV004528795 RCV000114625 RCV000116104

NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)

SNV
Germline

Chr16:23638125

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA161315

rs_138789658

24 SubmittersRCV000376271 RCV000440737 RCV002225309 RCV000114647 RCV000121743 RCV000129207

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

SNV
Germline

Chr16:23635917

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA161333

rs_57605939

22 SubmittersRCV000306267 RCV001358034 RCV001798303 RCV001705820 RCV002225310 RCV000114650 RCV000121750 RCV000131969

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 and/or ovarian cancer
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

CA269645

rs_180177091

15 SubmittersRCV000114657 RCV000210097 RCV000413603 RCV003492446 RCV004813057 RCV004796018

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

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

Criteria Provided
Conflicting Classifications

CA161318

rs_151316635

18 SubmittersRCV000656932 RCV001119845 RCV001357251 RCV004529927 RCV000114673 RCV000121744 RCV000116117

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

SNV
Germline

Chr9:95249371

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA287176

rs_587779898

2 SubmittersRCV000115337 RCV001068445

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

Criteria Provided
Conflicting Classifications

CA287184

rs_369684405

4 SubmittersRCV000115341 RCV000206060 RCV002381419

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

7 SubmittersRCV000115342 RCV000709080 RCV000805530 RCV001011247 RCV003492471 RCV004748580

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

SNV
Germline

Chr9:95101780

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287196

rs_587779902

5 SubmittersRCV000228424 RCV001012346 RCV005000998 RCV000115345

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

SNV
Germline

Chr9:95247504

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287202

rs_138629441

19 SubmittersRCV000563479 RCV000709095 RCV001354572 RCV003492472 RCV003935098 RCV000115347 RCV000197543 RCV000224234

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

Criteria Provided
Conflicting Classifications

CA287213

rs_587779905

7 SubmittersRCV000115352 RCV000315029 RCV000571052 RCV000709093 RCV001818267 RCV003492473

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

SNV
Germline

Chr9:95149977

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA159411

rs_140781259

16 SubmittersRCV000570280 RCV000709090 RCV000988214 RCV001356599 RCV001195037 RCV003945045 RCV000120979 RCV000200372

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

SNV
Germline

Chr9:95135345

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA287232

rs_587779909

8 SubmittersRCV000204814 RCV000410480 RCV001356332 RCV002444565

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

SNV
Germline

Chr9:95125148

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287233

rs_1800366

15 SubmittersRCV000572525 RCV000709085 RCV001195051 RCV001818268 RCV004700419 RCV004748581 RCV000196771

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

SNV
Germline

Chr7:152649202

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group U
Condition: not provided
XRCC2-related disorder

Criteria Provided
Conflicting Classifications

CA288130

rs_140214637

7 SubmittersRCV000115888 RCV000570999 RCV000988018 RCV000791415 RCV003945051

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_024675.4(PALB2):c.1240C>T (p.Arg414Ter)

SNV
Germline

Chr16:23635306

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA288395

rs_180177100

26 SubmittersRCV000116064 RCV000123331 RCV000254674 RCV000588541 RCV001354096 RCV002477287 RCV003162546 RCV004529946 RCV004555854 RCV004668783

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
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA288419

rs_587780207

5 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
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
not specified
Malignant tumor of breast
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA288444

rs_377626805

15 SubmittersRCV000116084 RCV000200135 RCV000212811 RCV000292657 RCV000780574 RCV001354155 RCV004542829

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

SNV
Germline

Chr16:23629645

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA161349

rs_587778587

17 SubmittersRCV000116087 RCV000121758 RCV000318539 RCV000656936 RCV000989556 RCV001030647 RCV001356207 RCV001798359 RCV004529947

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
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
not specified
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA210470

rs_587780214

17 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
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA288488

rs_118203998

21 SubmittersRCV000116108 RCV000200012 RCV000212831 RCV000587765 RCV000763376 RCV004528809 RCV003493446

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.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
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA288504

rs_587780223

7 SubmittersRCV000116116 RCV000212783 RCV000472765 RCV002483191

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

SNV
Germline

Chr17:61799185

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA157738

rs_150624408

26 SubmittersRCV000116120 RCV000120413 RCV000206467 RCV000409993 RCV000411100 RCV000415326 RCV000587794 RCV001356264 RCV001262875 RCV003149812 RCV004529948 RCV004764766

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

SNV
Germline

Chr17:61799125

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA288511

rs_587780226

12 SubmittersRCV000116121 RCV000210150 RCV000662793 RCV000699261 RCV001787088 RCV003162547 RCV003315646 RCV003483484

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
Fanconi anemia complementation group J
Ovarian neoplasm
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA288517

rs_587780228

13 SubmittersRCV000116123 RCV000212309 RCV000473135 RCV000663293 RCV000781186 RCV001781450

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

SNV
Germline

Chr17:61780899

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288532

rs_28997571

15 SubmittersRCV000116130 RCV000212315 RCV000196018 RCV000410174 RCV000412043 RCV001192970 RCV003315649 RCV004528811

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
Fanconi anemia complementation group J
Ovarian neoplasm
Familial cancer of breast
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA208855

rs_587780235

18 SubmittersRCV000116137 RCV000194594 RCV000477497 RCV000586157 RCV000662754 RCV001762241 RCV004732686

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
Ovarian neoplasm
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA288567

rs_587780244

8 SubmittersRCV000116148 RCV000212329 RCV000229209 RCV000410789 RCV000412341 RCV000656814 RCV003315654

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
Ovarian neoplasm
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA288570

rs_140233356

15 SubmittersRCV000116149 RCV000199089 RCV000411198 RCV000409338 RCV000585934 RCV000855583 RCV001030467 RCV003492507 RCV003315655 RCV004529951

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

Criteria Provided
Conflicting Classifications

CA288579

rs_367816363

9 SubmittersRCV000116152 RCV000206801 RCV000212333 RCV000662500 RCV000781175 RCV003315656

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

SNV
Germline

Chr17:61857121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288582

rs_587780247

14 SubmittersRCV000116153 RCV000205068 RCV000212298 RCV000409171 RCV000411175 RCV000780051 RCV000990040 RCV004529952

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
Fanconi anemia complementation group J
Ovarian neoplasm
not specified
Familial cancer of breast
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA288585

rs_150813402

9 SubmittersRCV000116154 RCV000204707 RCV000218787 RCV000663136 RCV000780057 RCV003315657 RCV004732687

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
Ovarian neoplasm
Malignant tumor of breast
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA288588

rs_587780248

11 SubmittersRCV000116155 RCV000204181 RCV000214821 RCV000409119 RCV000410336 RCV001354313 RCV001194197 RCV003315658

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

Criteria Provided
Conflicting Classifications

CA288591

rs_145855459

14 SubmittersRCV000116156 RCV000212334 RCV000410562 RCV000411633 RCV000587193 RCV001080937 RCV000989979 RCV001354736 RCV004529953

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
Fanconi anemia complementation group J
Ovarian neoplasm
Condition: not provided
Fanconi anemia complementation group J
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA288597

rs_45603843

12 SubmittersRCV000116158 RCV000200049 RCV000662581 RCV000662347 RCV001535683 RCV003150947 RCV003315659

NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)

SNV
Germline

Chr17:61847141

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288606

rs_550707862

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

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

SNV
Germline

Chr17:61808595

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA157728

rs_28997569

22 SubmittersRCV000116164 RCV000120409 RCV000409223 RCV000411226 RCV000515771 RCV000679792 RCV001082519 RCV001269494 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
Ovarian neoplasm
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

Criteria Provided
Conflicting Classifications

CA151532

rs_28997570

25 SubmittersRCV000116167 RCV000120408 RCV000412293 RCV000410013 RCV000590718 RCV000990022 RCV001084039 RCV001354244 RCV001798363 RCV004732688

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

SNV
Germline

Chr17:58734193

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288618

rs_587780253

12 SubmittersRCV000116171 RCV000227763 RCV000212951 RCV000302331 RCV000662871 RCV000709519 RCV001704017

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.506T>C (p.Val169Ala)

SNV
Germline

Chr17:58696794

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288624

rs_587780256

18 SubmittersRCV000116175 RCV000199007 RCV000412269 RCV000588889 RCV001358061 RCV002267859 RCV003492509 RCV004556053

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

13 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
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
Ovarian neoplasm
Hereditary breast ovarian cancer syndrome
RAD51C-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA288628

rs_587780259

23 SubmittersRCV000116178 RCV000234445 RCV000254687 RCV000456123 RCV000576612 RCV000785234 RCV001194262 RCV004528814

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

Criteria Provided
Conflicting Classifications

CA331905

rs_149331537

20 SubmittersRCV000116179 RCV000206074 RCV000411451 RCV000585995 RCV000778506 RCV000765378 RCV001195025 RCV001356788 RCV001798365 RCV001778711

NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)

SNV
Germline

Chr17:58709943

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
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 RCV000487827 RCV000515761 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
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Ovarian neoplasm
Condition: not provided
BRIP1-related disorder
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA157692

rs_45589637

27 SubmittersRCV000120396 RCV000123354 RCV000131414 RCV000409608 RCV000411134 RCV000488342 RCV000778128 RCV000989999 RCV001358098 RCV001798382 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
Fanconi anemia complementation group J
Ovarian neoplasm
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA157695

rs_571108955

16 SubmittersRCV000120397 RCV000165749 RCV000475545 RCV000656813 RCV000663063 RCV001030536 RCV003153386 RCV003492523 RCV003315735

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
Ovarian neoplasm
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

Criteria Provided
Conflicting Classifications

CA157701

rs_201869624

19 SubmittersRCV000120399 RCV000131535 RCV000588835 RCV000662392 RCV000709540 RCV001030535 RCV001083712 RCV001356698 RCV003315736 RCV003492524

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
Ovarian neoplasm
Fanconi anemia complementation group J
Breast and/or ovarian cancer
Familial cancer of breast
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA157707

rs_4988356

14 SubmittersRCV000120401 RCV000213879 RCV000468023 RCV000656815 RCV000662595 RCV003144130 RCV003149827 RCV003315737 RCV004584195

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
Ovarian neoplasm
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

Criteria Provided
Conflicting Classifications

CA157710

rs_28997573

22 SubmittersRCV000120402 RCV000131003 RCV000204453 RCV000409042 RCV000411479 RCV000589005 RCV000989978 RCV001535623 RCV003149828

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

SNV
Germline

Chr17:61847211

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Ovarian neoplasm
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

Criteria Provided
Conflicting Classifications

CA157719

rs_4988345

24 SubmittersRCV000120405 RCV000129172 RCV000410168 RCV000411236 RCV000512967 RCV000990031 RCV001082598 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
Cockayne syndrome
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Inborn genetic diseases
Ovarian cancer
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA158873

rs_374186605

7 SubmittersRCV000120810 RCV000535348 RCV002515858 RCV003153389 RCV003315749 RCV002470769 RCV002257428

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

SNV
Germline

Chr16:13948175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158876

rs_4986933

10 SubmittersRCV000120811 RCV000476568 RCV000989535 RCV001034545 RCV002515859 RCV002257429 RCV004704960

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

SNV
Germline

Chr16:13948330

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158888

rs_1800069

12 SubmittersRCV000120815 RCV000463526 RCV001121237 RCV001354835 RCV001332584 RCV001788036 RCV002257430 RCV002515860 RCV003915202

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

SNV
Germline

Chr16:13922034

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158897

rs_145315496

5 SubmittersRCV000120818 RCV000728799 RCV001209805 RCV001543122

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

SNV
Germline

Chr16:13934224

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158906

rs_1799802

11 SubmittersRCV000120821 RCV000224511 RCV001083882 RCV001116216 RCV002257432 RCV003224157 RCV003925183

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

SNV
Germline

Chr16:13935420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158912

rs_146601373

9 SubmittersRCV000120823 RCV000459235 RCV001034544 RCV002258800 RCV001117661 RCV004704961 RCV002515862

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

SNV
Germline

Chr16:13935347

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158918

rs_572439259

3 SubmittersRCV000120825 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
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
XFE progeroid syndrome
Fanconi anemia complementation group Q
Condition: not provided
Xeroderma pigmentosum
ERCC4-related disorder

Criteria Provided
Conflicting Classifications

CA158921

rs_41552412

12 SubmittersRCV000120826 RCV000343662 RCV000546465 RCV000764023 RCV001292825 RCV001355143 RCV002258801 RCV003975071

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

SNV
Germline

Chr16:13935538

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

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

Criteria Provided
Conflicting Classifications

CA158936

rs_1800068

13 SubmittersRCV000120831 RCV000651477 RCV001119237 RCV001294105 RCV001357601 RCV002055332 RCV002257433 RCV002515863

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA159232

rs_148100796

11 SubmittersRCV000474583 RCV000120912 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

5 SubmittersRCV000120922 RCV000667865 RCV001243928 RCV004975281

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

SNV
Germline

Chr16:89771757

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA159263

rs_367880372

7 SubmittersRCV000120923 RCV000707539 RCV001271604 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.2859C>A (p.Asp953Glu)

SNV
Germline

Chr16:89758699

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA159296

rs_149112292

3 SubmittersRCV000120935 RCV000667206 RCV000872247

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
Condition: not provided
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA159299

rs_140823801

8 SubmittersRCV000120936 RCV000862981 RCV001276514 RCV003477505 RCV003975072 RCV004975283

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

Criteria Provided
Conflicting Classifications

CA159313

rs_147017625

8 SubmittersRCV000120941 RCV000226225 RCV003147340 RCV003477506 RCV001843480 RCV003935154

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
Condition: not provided
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA332149

rs_143642304

12 SubmittersRCV000120942 RCV000204450 RCV001115378 RCV003407512 RCV003952597 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.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

7 SubmittersRCV000120961 RCV000672751 RCV002055335 RCV003477512 RCV004742267 RCV004975287

NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)

SNV
Germline

Chr16:89805366

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA159367

rs_144420697

8 SubmittersRCV000120962 RCV000461615 RCV000664733

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

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

Criteria Provided
Conflicting Classifications

CA159387

rs_41281202

11 SubmittersRCV000120969 RCV000224016 RCV000566496 RCV000709083 RCV000988205 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

9 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 A
Fanconi anemia complementation group C
Malignant tumor of breast
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA159399

rs_1800361

23 SubmittersRCV000120974 RCV000513630 RCV000573438 RCV001083879 RCV000988227 RCV001168031 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

26 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
Malignant tumor of breast
Condition: not provided
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA159438

rs_147523071

14 SubmittersRCV000120987 RCV000459559 RCV000764454 RCV001004843 RCV001541664 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
Ovarian cancer
Exstrophy-epispadias complex

Criteria Provided
Conflicting Classifications

CA159535

rs_139600847

6 SubmittersRCV000121010 RCV000689014 RCV003153392 RCV003389394

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.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

8 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_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
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome
FANCC-related disorder
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA163000

rs_587777945

5 SubmittersRCV000122403 RCV001729399 RCV002399490 RCV003407527 RCV003522928

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
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA332967

rs_148647206

9 SubmittersRCV000123333 RCV000215046 RCV000589758 RCV002492444 RCV004739425

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

SNV
Germline

Chr16:23629219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA332973

rs_587780821

5 SubmittersRCV000123339 RCV000560973 RCV000486288 RCV001535717

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

SNV
Germline

Chr17:61793591

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA332986

rs_587780827

9 SubmittersRCV000123349 RCV000411739 RCV000411067 RCV000580346 RCV001618289 RCV001818297 RCV003315825

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

SNV
Germline

Chr17:61781008

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA294179

rs_587780828

12 SubmittersRCV000123350 RCV000130219 RCV000212313 RCV003144134 RCV003477525 RCV003483490 RCV004786386

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

SNV
Germline

Chr17:61776394

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA289756

rs_4988352

25 SubmittersRCV000123353 RCV000124038 RCV000410211 RCV000412184 RCV000579602 RCV000990005 RCV001079247 RCV001354110 RCV001798408

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
Condition: not provided
not specified
Familial cancer of breast
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA187582

rs_188258913

12 SubmittersRCV000123357 RCV000163156 RCV001284118 RCV001778741 RCV002272135 RCV004530061

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

SNV
Germline

Chr17:61683771

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA165900

rs_587780830

10 SubmittersRCV000123358 RCV000130186 RCV000442394 RCV000662393 RCV001284121 RCV003315827 RCV004584610 RCV004732691

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

SNV
Germline

Chr17:61847116

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA332993

rs_587780832

7 SubmittersRCV000123362 RCV000410021 RCV000411574 RCV000603905 RCV000776533 RCV003315828

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

SNV
Germline

Chr17:61847100

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
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

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

Criteria Provided
Conflicting Classifications

CA298928

rs_138743097

11 SubmittersRCV000123365 RCV000160362 RCV000586716 RCV001125839 RCV002267867 RCV002225394 RCV003149846

NM_058216.3(RAD51C):c.146-8A>G

SNV
Germline

Chr17:58694923

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA293025

rs_201079501

16 SubmittersRCV000123369 RCV000127688 RCV000409786 RCV000579930 RCV000662404 RCV001815236 RCV003149847 RCV002509230

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
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
RAD51C-related disorder

Criteria Provided
Conflicting Classifications

CA333000

rs_587780836

6 SubmittersRCV000123372 RCV000215144 RCV001582597 RCV002466441 RCV004530062

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

Criteria Provided
Conflicting Classifications

CA289740

rs_200050729

11 SubmittersRCV000124025 RCV000580079 RCV000679789 RCV001397865 RCV003149853

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

SNV
Germline

Chr17:61683587

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA289745

rs_4987050

18 SubmittersRCV000124030 RCV000212336 RCV000409837 RCV000411782 RCV000679785 RCV001082541 RCV000989977 RCV001798415 RCV004732693

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

SNV
Germline

Chr17:61861572

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA289748

rs_370728413

9 SubmittersRCV000124031 RCV000580838 RCV000990046 RCV001122188 RCV001689674

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

SNV
Germline

Chr17:61861504

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Ovarian neoplasm
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

CA289749

rs_45566938

13 SubmittersRCV000124032 RCV000212296 RCV000410111 RCV000411186 RCV000588076 RCV001086934 RCV001798416 RCV003315841

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

SNV
Germline

Chr17:61781016

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA289755

rs_375710640

8 SubmittersRCV000124036 RCV000383630 RCV000580125 RCV000662400 RCV002055435 RCV003315843

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

14 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
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA293026

rs_377297129

16 SubmittersRCV000127693 RCV000410695 RCV000411797 RCV000579441 RCV001195010 RCV001354401 RCV003149869

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

SNV
Germline

Chr17:58724090

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA163579

rs_587781287

10 SubmittersRCV000128973 RCV000230603 RCV000501924 RCV000483841

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

SNV
Germline

Chr17:61859868

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA163617

rs_587781292

10 SubmittersRCV000128992 RCV000196974 RCV000482088 RCV000662599 RCV001798433 RCV003315866

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

SNV
Germline

Chr17:61683943

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA163643

rs_45437094

18 SubmittersRCV000129008 RCV000410906 RCV000412441 RCV000590794 RCV001081667 RCV001355322 RCV001800423 RCV003149886 RCV003315867 RCV004532542

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

SNV
Germline

Chr17:61683897

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
Ovarian neoplasm
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA163667

rs_373040333

8 SubmittersRCV000129015 RCV000197620 RCV000213740 RCV000662424 RCV003315868

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

SNV
Germline

Chr17:58703201

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA333162

rs_200293302

18 SubmittersRCV000129056 RCV000203684 RCV000212943 RCV000576579 RCV000590531 RCV000778126 RCV001554248 RCV002288621 RCV004691760

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

SNV
Germline

Chr17:61780325

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA293947

rs_587781321

14 SubmittersRCV000129060 RCV000228701 RCV000254651 RCV000576387 RCV000589135 RCV001781464 RCV003335111 RCV003315870 RCV003387506

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_058216.3(RAD51C):c.134A>G (p.Glu45Gly)

SNV
Germline

Chr17:58692777

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA163967

rs_587781383

12 SubmittersRCV000129215 RCV000167882 RCV000409379 RCV000588471 RCV001778747 RCV001798436 RCV002509232

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

SNV
Germline

Chr17:61684098

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA164119

rs_587781417

7 SubmittersRCV000129283 RCV000409964 RCV000412403 RCV000636117 RCV001775619 RCV003315873

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

SNV
Germline

Chr13:32394865

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA026155

rs_587776476

11 SubmittersRCV000129373 RCV000144220 RCV000499802 RCV001088631 RCV001114170 RCV001353675 RCV004532550

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

SNV
Germline

Chr17:58696790

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA294043

rs_587781490

9 SubmittersRCV000129454 RCV000212939 RCV000648252 RCV000785447 RCV001271006 RCV003128148 RCV003467108

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
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA164765

rs_587781574

8 SubmittersRCV000129608 RCV000410493 RCV000411492 RCV000986013

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

Criteria Provided
Conflicting Classifications

CA165098

rs_61757643

6 SubmittersRCV000129791 RCV000466396 RCV000424619 RCV003387768

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

SNV
Germline

Chr17:61808466

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA165105

rs_587781655

12 SubmittersRCV000129793 RCV000434292 RCV000472419 RCV001781468 RCV003335113 RCV003492592

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

Criteria Provided
Conflicting Classifications

CA294121

rs_140804406

13 SubmittersRCV000129799 RCV000204512 RCV003315883 RCV004734671 RCV000662365 RCV000781795 RCV003492593 RCV000212945 RCV003153419

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

SNV
Germline

Chr17:61683809

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA165144

rs_587781666

9 SubmittersRCV000129821 RCV000662741 RCV000200144 RCV000780068 RCV003315884 RCV000758998

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

Criteria Provided
Multiple Submitters
No Conflicts

CA165277

rs_368796923

10 SubmittersRCV000129878 RCV000409609 RCV000411128 RCV000445256 RCV000701846 RCV000781179 RCV003335116

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
Hereditary cancer
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA165328

rs_542698396

11 SubmittersRCV000129907 RCV000227303 RCV000657056 RCV003492594 RCV000989972 RCV004595931

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

SNV
Germline

Chr17:61849173

Pathogenic

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

Criteria Provided
Conflicting Classifications

CA165626

rs_374334794

13 SubmittersRCV000130056 RCV001255230 RCV000663220 RCV001194712 RCV000699539 RCV004760390 RCV002273958 RCV003460909

NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)

SNV
Germline

Chr16:23630199

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA165693

rs_587781818

11 SubmittersRCV000130094 RCV001030649 RCV001358211 RCV000226926 RCV000302799 RCV000842453 RCV001030271

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

SNV
Germline

Chr16:23635182

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA294158

rs_587781824

7 SubmittersRCV000130104 RCV000212792 RCV000409652 RCV001116859

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

SNV
Germline

Chr17:61808657

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA165876

rs_587781860

11 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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA166081

rs_587781923

9 SubmittersRCV000130274 RCV000546539 RCV000989980 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
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast and/or ovarian cancer
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA166193

rs_587781954

10 SubmittersRCV000130326 RCV000764051 RCV001798444 RCV000411835 RCV000481375

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

SNV
Germline

Chr17:61716002

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA166286

rs_45468199

12 SubmittersRCV000234009 RCV000411419 RCV000130375 RCV000218503 RCV000410258 RCV001030534 RCV003315890 RCV001356230 RCV003320104

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

Criteria Provided
Conflicting Classifications

CA166320

rs_150313156

10 SubmittersRCV000130394 RCV000200420 RCV000662423 RCV000590600 RCV001290444 RCV003315892 RCV004532557

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

SNV
Germline

Chr16:23614059

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA166426

rs_138273800

17 SubmittersRCV000204730 RCV000130431 RCV001355887 RCV003389456 RCV003444205 RCV000482622 RCV004544294 RCV001194140 RCV002505109

NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)

SNV
Germline

Chr17:43045800

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA003629

rs_587782026

8 SubmittersRCV000481196 RCV000765356 RCV000130459 RCV000168345 RCV001076289

NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val)

SNV
Germline

Chr13:32379387

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA025840

rs_373227180

13 SubmittersRCV000130462 RCV000233879 RCV000356690 RCV000409083 RCV000780004 RCV001775622 RCV004532561 RCV004567114

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

Criteria Provided
Conflicting Classifications

CA166555

rs_587782045

6 SubmittersRCV000130508 RCV004567116 RCV000484566 RCV000475164

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

SNV
Germline

Chr17:61861446

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

CA166569

rs_587782047

8 SubmittersRCV000223400 RCV000558720 RCV000130514 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
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
Malignant tumor of breast
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA010932

rs_371454630

12 SubmittersRCV000130560 RCV000195524 RCV000238792 RCV000500188 RCV001112103 RCV001170455 RCV001353620 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
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA166877

rs_587782131

10 SubmittersRCV000130674 RCV000990037 RCV000547580 RCV000985642 RCV004532564

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

SNV
Germline

Chr16:23607907

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
Breast and/or ovarian cancer
not specified
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA166991

rs_201657283

11 SubmittersRCV000130728 RCV000483048 RCV000226292 RCV000764042 RCV003149901 RCV001194142 RCV003153422

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

SNV
Germline

Chr17:61793628

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA294222

rs_200062099

13 SubmittersRCV000469846 RCV000130729 RCV000212311 RCV000780054 RCV003315897 RCV004732695 RCV000663131 RCV001030540 RCV001124864

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

Criteria Provided
Conflicting Classifications

CA167050

rs_587782164

10 SubmittersRCV000130756 RCV000197454 RCV003315411 RCV000588642 RCV004595933 RCV002478396

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

SNV
Germline

Chr17:58695120

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA333232

rs_370212314

9 SubmittersRCV000197831 RCV000130920 RCV000236213 RCV003492606 RCV003462005 RCV001251311

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

9 SubmittersRCV000130948 RCV000367894 RCV000464105 RCV001192822 RCV002254681 RCV004532567

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

SNV
Germline

Chr17:61780984

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA167467

rs_587782254

8 SubmittersRCV000479209 RCV000130967 RCV003462006 RCV004528857 RCV000636069 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
Ovarian neoplasm
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA167682

rs_141055990

17 SubmittersRCV000131157 RCV000220964 RCV000231925 RCV000412159 RCV003315902 RCV000411077 RCV000781177 RCV001356435 RCV002225442 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

Criteria Provided
Multiple Submitters
No Conflicts

CA294369

rs_574552037

14 SubmittersRCV000131417 RCV000205848 RCV000254652 RCV000588697 RCV001270930 RCV002272137 RCV003155923 RCV003335124

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

SNV
Germline

Chr17:61685976

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA168171

rs_587782410

14 SubmittersRCV000131449 RCV000216847 RCV000410978 RCV000412207 RCV000468535 RCV000588116 RCV002288648

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
Ovarian neoplasm
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA168226

rs_587782427

5 SubmittersRCV000131481 RCV000663002 RCV000460063 RCV003315907

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

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

Criteria Provided
Conflicting Classifications

CA168409

rs_143615668

14 SubmittersRCV000131589 RCV000220020 RCV000588637 RCV000663050 RCV001082225 RCV002225445 RCV003315912 RCV003492626 RCV004532572

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

SNV
Germline

Chr17:61784279

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
Ovarian neoplasm
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA168446

rs_4988349

11 SubmittersRCV000131607 RCV000222534 RCV000465039 RCV000662789 RCV000781166 RCV002288649

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

SNV
Germline

Chr17:61849151

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA168512

rs_61757643

8 SubmittersRCV000662676 RCV000131634 RCV000231093 RCV001559562 RCV003315913 RCV001174711

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

SNV
Germline

Chr16:23607918

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA168538

rs_142132127

19 SubmittersRCV000235868 RCV000131652 RCV000410212 RCV000657014 RCV002478400 RCV001294230

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

SNV
Germline

Chr13:32363244

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA025420

rs_587782519

11 SubmittersRCV000131690 RCV000168172 RCV000239323 RCV000781102 RCV000724545 RCV001114096 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA294435

rs_587782528

13 SubmittersRCV000131716 RCV000196217 RCV000212932 RCV000410098 RCV000589795 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
not specified
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA012149

rs_587782535

15 SubmittersRCV000131739 RCV000198082 RCV000586148 RCV003321517 RCV001535543 RCV001170456 RCV003493458

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

SNV
Germline

Chr17:61686166

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

CA168685

rs_587782539

5 SubmittersRCV000131744 RCV000763016 RCV003335125

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

Criteria Provided
Conflicting Classifications

CA168757

rs_587782565

6 SubmittersRCV000131788 RCV000232947 RCV000482155 RCV001270237 RCV003462023

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
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

11 SubmittersRCV000131789 RCV000526519 RCV001824643 RCV004998280 RCV004739459 RCV004796031

NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala)

SNV
Germline

Chr13:32394925

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA026176

rs_587782568

8 SubmittersRCV000131791 RCV000657154 RCV001110139 RCV000483383 RCV001110138 RCV001082356

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

SNV
Germline

Chr17:61743015

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA168781

rs_587782574

7 SubmittersRCV000131801 RCV000519624 RCV000703456 RCV000663018 RCV003315916

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
Breast and/or ovarian cancer
Condition: not provided
Hereditary site-specific ovarian cancer syndrome
RAD51C-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA169350

rs_587782702

18 SubmittersRCV000007225 RCV000132144 RCV000225845 RCV001798459 RCV000484863 RCV001171471 RCV004544303

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

Criteria Provided
Conflicting Classifications

CA024540

rs_576279166

11 SubmittersRCV000132216 RCV000203848 RCV000479638 RCV000353391 RCV000410842 RCV001284584

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

SNV
Germline

Chr17:61857111

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA169463

rs_587782734

10 SubmittersRCV000132232 RCV002267884 RCV000687515 RCV000213770 RCV004532579 RCV000990039

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

Criteria Provided
Conflicting Classifications

CA333284

rs_28363307

19 SubmittersRCV000132278 RCV000204997 RCV000410651 RCV001354887 RCV004532581 RCV000235203 RCV000765376 RCV002465533 RCV000766173

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

Criteria Provided
Multiple Submitters
No Conflicts

CA169763

rs_587782818

8 SubmittersRCV000132392 RCV000458376 RCV000763015 RCV001358380 RCV003467194 RCV004696853

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

SNV
Germline

Chr16:23624008

Pathogenic/Likely pathogenic

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
Multiple Submitters
No Conflicts

CA294560

rs_587776419

8 SubmittersRCV000133481 RCV000411304 RCV000567638 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_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

8 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

10 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
Fanconi anemia
not specified
Malignant tumor of breast
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA299169

rs_143181565

9 SubmittersRCV000160481 RCV000571755 RCV000709088 RCV001085038 RCV001194155 RCV001355168 RCV003492652

NM_000136.3(FANCC):c.802T>A (p.Cys268Ser)

SNV
Germline

Chr9:95135387

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA299166

rs_730881718

4 SubmittersRCV000160480 RCV000459016 RCV001027088 RCV001274477

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

8 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
Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group A
not specified
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA299145

rs_370346767

9 SubmittersRCV000160473 RCV000470152 RCV000564307 RCV000988216 RCV002271426 RCV002492634

NM_000136.3(FANCC):c.522-4A>G

SNV
Germline

Chr9:95150091

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA299222

rs_371422485

6 SubmittersRCV000160501 RCV000200491 RCV000561641 RCV000665085 RCV003965178

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

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

Criteria Provided
Conflicting Classifications

CA299753

rs_730881894

11 SubmittersRCV000232726 RCV000570480 RCV000589198 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
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

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
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA299734

rs_730881890

6 SubmittersRCV000160844 RCV000216145 RCV000555792 RCV002485001

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
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
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
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

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
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Hereditary breast ovarian cancer syndrome
PALB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA299691

rs_730881876

11 SubmittersRCV000160827 RCV000771400 RCV001238865 RCV001781504 RCV003155926 RCV004724950

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
Fanconi anemia complementation group N
Carcinoma of colon
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA299796

rs_142103232

13 SubmittersRCV000160871 RCV000168207 RCV000220923 RCV001121722 RCV001030240 RCV004535051

NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)

SNV
Germline

Chr16:23635054

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA185966

rs_75023630

12 SubmittersRCV000160870 RCV000200991 RCV000197379 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
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA299793

rs_577969558

7 SubmittersRCV000160869 RCV000216241 RCV000635626 RCV002485002 RCV004535050

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

SNV
Germline

Chr16:23636336

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA299700

rs_730881879

12 SubmittersRCV000160830 RCV000206312 RCV000213220 RCV001781505 RCV002498799 RCV004739509 RCV004800300

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.164C>T (p.Ala55Val)

SNV
Germline

Chr17:58694949

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

Criteria Provided
Conflicting Classifications

CA299873

rs_730881928

7 SubmittersRCV000214683 RCV000648250 RCV000759333 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

9 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
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA299885

rs_730881931

8 SubmittersRCV000160923 RCV000221514 RCV000467500 RCV000763014 RCV002307418 RCV003467269

NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)

SNV
Germline

Chr17:58709883

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
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA299861

rs_199886026

12 SubmittersRCV000160915 RCV000206770 RCV000587417 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
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
not specified
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA299864

rs_730881925

11 SubmittersRCV000160916 RCV000168412 RCV000234871 RCV000663073 RCV000781789 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
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA299887

rs_730881932

8 SubmittersRCV000160924 RCV000563267 RCV000807077 RCV000781796 RCV001310207

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

Criteria Provided
Multiple Submitters
No Conflicts

CA299893

rs_730881933

6 SubmittersRCV000160926 RCV000698614 RCV001183046 RCV003467270

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

Criteria Provided
Conflicting Classifications

CA298847

rs_367610893

12 SubmittersRCV000160327 RCV000226626 RCV000662546 RCV000573454 RCV000989974 RCV001192971 RCV003492648 RCV004544466

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

7 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
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian neoplasm
Fanconi anemia complementation group J
not specified
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298825

rs_730881622

11 SubmittersRCV000160319 RCV000212323 RCV000477092 RCV000663309 RCV000781178 RCV001194708 RCV003315951

NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)

SNV
Germline

Chr17:61799183

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

CA298908

rs_148429663

7 SubmittersRCV000160350 RCV000534624 RCV000570359 RCV004786436

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA298869

rs_730881633

10 SubmittersRCV000160335 RCV000212307 RCV000636104 RCV001030543 RCV003335146 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
Ovarian neoplasm
Fanconi anemia complementation group J
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298828

rs_730881623

9 SubmittersRCV000160320 RCV000167936 RCV000212300 RCV000662866 RCV002298487 RCV003315952

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
Ovarian neoplasm
Familial cancer of breast
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA298931

rs_45617634

9 SubmittersRCV000160363 RCV000205266 RCV000212299 RCV000409265 RCV000410368 RCV003315958 RCV004732719

NM_032043.3(BRIP1):c.93+15G>A

SNV
Germline

Chr17:61861432

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298901

rs_113052745

6 SubmittersRCV000160347 RCV000395959 RCV000662691 RCV000580716 RCV002225462 RCV002053921

NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg)

SNV
Germline

Chr13:32319325

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA017418

rs_786201916

5 SubmittersRCV000164444 RCV000637554 RCV001193279 RCV001729420 RCV003441762

NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)

SNV
Germline

Chr13:32337852

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018181

rs_762886975

7 SubmittersRCV000166339 RCV001094081 RCV001356826 RCV000309640 RCV000366646 RCV004692777

NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)

SNV
Germline

Chr16:23629810

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA196135

rs_786203296

11 SubmittersRCV000166543 RCV000478256 RCV002492670 RCV000470017 RCV001355915 RCV003479039

NM_024675.4(PALB2):c.2277A>G (p.Gln759=)

SNV
Germline

Chr16:23629877

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA193209

rs_786202524

10 SubmittersRCV000165372 RCV000614133 RCV000472744 RCV001119745 RCV003150021 RCV004535111

NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)

SNV
Germline

Chr16:23629926

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA189784

rs_141749524

11 SubmittersRCV000164010 RCV000197626 RCV000255110 RCV000296163 RCV000781684 RCV001030648 RCV003150010

NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro)

SNV
Germline

Chr16:23630020

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA194955

rs_765942523

5 SubmittersRCV000459199 RCV000166087 RCV002485027

NM_024675.4(PALB2):c.2100A>T (p.Ser700=)

SNV
Germline

Chr16:23630054

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA190176

rs_757145884

9 SubmittersRCV000164155 RCV000200038 RCV000347505 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.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
Condition: not provided
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA186523

rs_786201088

8 SubmittersRCV000162589 RCV000232866 RCV001121723 RCV001818362 RCV001704155 RCV004544477

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

Criteria Provided
Conflicting Classifications

CA196834

rs_749494645

12 SubmittersRCV000166836 RCV000780567 RCV001030716 RCV000289282 RCV000483813 RCV004739541 RCV000989572

NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)

SNV
Germline

Chr16:23635717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA195935

rs_778309339

8 SubmittersRCV000235601 RCV000477600 RCV000166462 RCV001030179 RCV001336120

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
Familial cancer of breast
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA195172

rs_786203040

5 SubmittersRCV000166174 RCV000459460 RCV002485029

NM_024675.4(PALB2):c.495C>T (p.Gly165=)

SNV
Germline

Chr16:23636051

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA193911

rs_200937538

14 SubmittersRCV000165654 RCV000444952 RCV000532734 RCV000679773 RCV001357741 RCV001119841

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

Criteria Provided
Conflicting Classifications

CA002409

rs_397509100

13 SubmittersRCV000165814 RCV000411367 RCV000759525 RCV001193747 RCV001354503 RCV002485026 RCV000203862 RCV001170594 RCV004804753

NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met)

SNV
Germline

Chr17:43093786

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA001143

rs_786202386

11 SubmittersRCV000165167 RCV000764124 RCV001128034 RCV000227464 RCV004767104 RCV004804743 RCV001555644

NM_007294.4(BRCA1):c.20G>A (p.Arg7His)

SNV
Germline

Chr17:43124077

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA001390

rs_144792613

11 SubmittersRCV000164210 RCV000543291 RCV000588310 RCV000764129 RCV001072325

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

Criteria Provided
Conflicting Classifications

CA188884

rs_376403182

7 SubmittersRCV000163662 RCV000228544 RCV000479892 RCV001195006

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

9 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
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
not specified
Condition: not provided
RAD51C-related disorder

Criteria Provided
Conflicting Classifications

CA194603

rs_786202890

8 SubmittersRCV000165944 RCV001535599 RCV000195928 RCV000781943 RCV001576516 RCV004535123

NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)

SNV
Germline

Chr17:58696746

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA191975

rs_765730332

10 SubmittersRCV000164871 RCV000587056 RCV003150961 RCV001262192 RCV000226827

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
Breast-ovarian cancer, familial, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA190705

rs_786201848

9 SubmittersRCV000164342 RCV000227022 RCV000986011 RCV003316020 RCV002465547

NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter)

SNV
Germline

Chr17:58703254

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA190934

rs_786201909

9 SubmittersRCV000164432 RCV000529934 RCV000657719 RCV001194263 RCV001798584 RCV003467296

NM_058216.3(RAD51C):c.635G>A (p.Arg212His)

SNV
Germline

Chr17:58703259

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA198151

rs_200857129

14 SubmittersRCV000167379 RCV002295286 RCV000409423 RCV000588404 RCV003153459 RCV001030587 RCV000412279 RCV002505216

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
RAD51C-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA191729

rs_150142859

8 SubmittersRCV000164771 RCV000198935 RCV004535104 RCV000442055 RCV001800488

NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln)

SNV
Germline

Chr17:58709932

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

Criteria Provided
Conflicting Classifications

CA195578

rs_730881926

9 SubmittersRCV000166327 RCV001576576 RCV000529829 RCV000780668 RCV002265646

NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)

SNV
Germline

Chr17:58720798

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA195984

rs_143026267

13 SubmittersRCV000166479 RCV000409000 RCV000657146 RCV000410543 RCV001818392 RCV004528916

NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)

SNV
Germline

Chr17:58724057

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
RAD51C-related disorder
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

CA195122

rs_185057307

13 SubmittersRCV000166154 RCV000236041 RCV000227701 RCV004535124 RCV001844059 RCV000662381 RCV002291582

NM_058216.3(RAD51C):c.1128A>G (p.Leu376=)

SNV
Germline

Chr17:58734219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA196668

rs_545024029

7 SubmittersRCV000166761 RCV000423579 RCV000546857 RCV004584620

NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)

SNV
Germline

Chr17:61683475

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
Ovarian neoplasm
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA196415

rs_761405340

11 SubmittersRCV000781167 RCV000166662 RCV000198324 RCV000219026 RCV000662435 RCV001798598 RCV003316056

NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)

SNV
Germline

Chr17:61683479

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA191229

rs_764848326

9 SubmittersRCV000164542 RCV000432753 RCV000472623 RCV000989973 RCV001124767 RCV001704197 RCV004535101

NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)

SNV
Germline

Chr17:61683814

Likely pathogenic

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

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

Criteria Provided
Conflicting Classifications

CA190983

rs_763162379

8 SubmittersRCV000164450 RCV000409520 RCV000412033 RCV000520126 RCV000636160 RCV002247565 RCV003316022 RCV004528910

NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)

SNV
Germline

Chr17:61683996

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
Ovarian neoplasm
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA194343

rs_747907706

10 SubmittersRCV000165849 RCV000231204 RCV000586787 RCV000662372 RCV001262876 RCV001549276

NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)

SNV
Germline

Chr17:61684132

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA195885

rs_786203224

7 SubmittersRCV000166442 RCV000662959 RCV000989986 RCV002259316 RCV000472014

NM_032043.3(BRIP1):c.2893A>C (p.Arg965=)

SNV
Germline

Chr17:61685848

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA189776

rs_786201632

7 SubmittersRCV000164008 RCV000197368 RCV000662667 RCV001797647 RCV003316014 RCV004732724

NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)

SNV
Germline

Chr17:61685930

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA187400

rs_374335608

13 SubmittersRCV000163081 RCV000233012 RCV000374312 RCV000440198 RCV003492667 RCV004535063 RCV004791288

NM_032043.3(BRIP1):c.2723C>T (p.Thr908Ile)

SNV
Germline

Chr17:61686018

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA190975

rs_786201919

5 SubmittersRCV000164448 RCV000586440 RCV000699974

NM_032043.3(BRIP1):c.2258-3A>G

SNV
Germline

Chr17:61743137

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA197042

rs_786203561

5 SubmittersRCV000166925 RCV000506334 RCV003474883 RCV000472114

NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)

SNV
Germline

Chr17:61744589

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

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

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

CA194780

rs_786202941

6 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
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA191781

rs_765314472

6 SubmittersRCV000164796 RCV000457977 RCV000999642 RCV000217145 RCV003493473

NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)

SNV
Germline

Chr17:61780365

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA194306

rs_777741543

8 SubmittersRCV000165836 RCV000233742 RCV000662932 RCV000480949 RCV003230262

NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)

SNV
Germline

Chr17:61784346

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA190066

rs_786201701

6 SubmittersRCV000164112 RCV000439785 RCV000475560 RCV001356649

NM_032043.3(BRIP1):c.1474-3T>C

SNV
Germline

Chr17:61784427

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
not specified
BRIP1-related disorder
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian neoplasm

Criteria Provided
Conflicting Classifications

CA192215

rs_552752779

14 SubmittersRCV000164980 RCV000348888 RCV000589721 RCV001085989 RCV000430204 RCV004535106 RCV003316033 RCV000662494

NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)

SNV
Germline

Chr17:61808634

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA193144

rs_752309409

15 SubmittersRCV000165345 RCV000219928 RCV000206065 RCV000662796 RCV002225482 RCV001781512 RCV003316042 RCV004732727

NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)

SNV
Germline

Chr17:61808696

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA195418

rs_759031349

14 SubmittersRCV000515765 RCV000166271 RCV001086889 RCV000386668 RCV000409005 RCV000411446 RCV001328338

NM_032043.3(BRIP1):c.668A>G (p.Gln223Arg)

SNV
Germline

Chr17:61808717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA197560

rs_786203708

4 SubmittersRCV000167128 RCV001241245 RCV001284464

NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter)

SNV
Germline

Chr17:61808718

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA190233

rs_786201733

3 SubmittersRCV000164174 RCV003335154 RCV003765019

NM_032043.3(BRIP1):c.638A>G (p.His213Arg)

SNV
Germline

Chr17:61808747

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
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA195347

rs_376760085

7 SubmittersRCV000205783 RCV000166239 RCV001194200 RCV000217577 RCV003462205 RCV004724959

NM_032043.3(BRIP1):c.550G>A (p.Asp184Asn)

SNV
Germline

Chr17:61847178

Conflicting classifications of pathogenicity

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

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
Familial cancer of breast
Fanconi anemia complementation group J
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA194744

rs_747604569

11 SubmittersRCV000198978 RCV000588178 RCV000166003 RCV003162707 RCV004539556 RCV000484711 RCV001781513 RCV003335159

NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro)

SNV
Germline

Chr17:61857067

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA192862

rs_45617634

4 SubmittersRCV000165248 RCV002307422 RCV000460048

NM_032043.3(BRIP1):c.249A>G (p.Gln83=)

SNV
Germline

Chr17:61857188

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA188832

rs_45528833

10 SubmittersRCV000163644 RCV000178374 RCV001084487 RCV004539533 RCV004786449

NM_032043.3(BRIP1):c.206-2A>G

SNV
Germline

Chr17:61857233

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA197546

rs_786203700

10 SubmittersRCV000167120 RCV000214974 RCV000526148 RCV001310101 RCV001781516 RCV004732730 RCV000576661 RCV003462235

NM_032043.3(BRIP1):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:61861539

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Ovarian neoplasm
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Genetic non-acquired premature ovarian failure
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA197496

rs_764585550

8 SubmittersRCV000167101 RCV000410570 RCV000411221 RCV000474167 RCV000484413 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

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

Criteria Provided
Conflicting Classifications

CA334694

rs_587778327

5 SubmittersRCV000482249 RCV001025063 RCV003144145 RCV000168381

NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)

SNV
Germline

Chr16:23635230

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA334035

rs_537258442

13 SubmittersRCV000167944 RCV000565232 RCV000765276 RCV001818401 RCV000588409

NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr)

SNV
Germline

Chr16:23635431

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

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

2 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
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA334598

rs_573992101

12 SubmittersRCV000168314 RCV000408982 RCV000446053 RCV002485046 RCV000656962 RCV003155099

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

Criteria Provided
Conflicting Classifications

CA334612

rs_565458815

10 SubmittersRCV000168335 RCV000222015 RCV000662572 RCV001546767 RCV000506651 RCV003316070

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

10 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
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274274

rs_781542763

8 SubmittersRCV000169411 RCV001213440 RCV002345568 RCV003441768

NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)

SNV
Germline

Chr9:95249227

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274137

rs_377294947

10 SubmittersRCV000169293 RCV002362865 RCV001390247 RCV003407628 RCV004719732

NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)

SNV
Germline

Chr16:89767185

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA274891

rs_752160950

7 SubmittersRCV000173013 RCV000630944

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

8 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

6 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
Condition: not provided
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA207035

rs_145762491

10 SubmittersRCV000193501 RCV000231441 RCV001121009 RCV001532265 RCV003977514

NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys)

SNV
Germline

Chr9:95101789

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA339012

rs_55939573

6 SubmittersRCV000199976 RCV000520121 RCV001167954 RCV003153471 RCV001012322

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

8 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
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome
not specified
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA339272

rs_369082921

8 SubmittersRCV000200370 RCV000486099 RCV000666113 RCV001017767 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
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA339141

rs_147479204

10 SubmittersRCV000200177 RCV000218236 RCV000709098 RCV001016913 RCV001818485

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
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA335883

rs_863224788

8 SubmittersRCV000195715 RCV000216876 RCV000478251 RCV001251265 RCV002492923

NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)

SNV
Germline

Chr16:23635209

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA339587

rs_146434474

12 SubmittersRCV000200861 RCV000255070 RCV000562823 RCV000761148 RCV001194137 RCV002492922 RCV004530198

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
Fanconi anemia complementation group P
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338775

rs_144326379

7 SubmittersRCV000199665 RCV001115435 RCV001818479 RCV001579421

NM_000135.4(FANCA):c.3981C>T (p.His1327=)

SNV
Germline

Chr16:89739507

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA337861

rs_141278771

8 SubmittersRCV000198364 RCV001118445 RCV001818475 RCV003430755 RCV004975328

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
Fanconi anemia complementation group A
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA338977

rs_780825099

9 SubmittersRCV000199923 RCV000674142 RCV001091062 RCV002252053

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

7 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
Fanconi anemia complementation group O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA335708

rs_145779113

7 SubmittersRCV000195473 RCV000561973 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
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Malignant tumor of breast
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA338966

rs_755849719

9 SubmittersRCV000199916 RCV000220144 RCV000679802 RCV000765377 RCV001358631 RCV001798674 RCV004020476

NM_058216.3(RAD51C):c.705+10A>G

SNV
Germline

Chr17:58703339

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337115

rs_377586976

4 SubmittersRCV000197334 RCV000603832 RCV000580531

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
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA338869

rs_779582317

9 SubmittersRCV000199789 RCV000570941 RCV001194258 RCV003468897 RCV003441777 RCV003165464

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
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA339524

rs_863224801

7 SubmittersRCV000200748 RCV000408962 RCV000410527 RCV000567218 RCV003316114 RCV004812306

NM_032043.3(BRIP1):c.2349A>T (p.Gly783=)

SNV
Germline

Chr17:61743043

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

CA338887

rs_863224799

3 SubmittersRCV000199823 RCV002444811 RCV004791323

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

Criteria Provided
Multiple Submitters
No Conflicts

CA338228

rs_775171520

7 SubmittersRCV000198848 RCV000586228 RCV000449028 RCV003477666 RCV003335194

NM_032043.3(BRIP1):c.205+3A>G

SNV
Germline

Chr17:61859793

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA336991

rs_539329589

3 SubmittersRCV000583027 RCV001426470

NM_001018115.3(FANCD2):c.2022-5C>T

SNV
Germline

Chr3:10064724

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group D2
Condition: not provided
Fanconi anemia complementation group A
Fanconi anemia
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA249053

rs_4019784

13 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_018062.4(FANCL):c.112C>T (p.Leu38Phe)

SNV
Germline

Chr2:58232097

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Fanconi anemia
Fanconi anemia complementation group L
FANCL-related disorder

Criteria Provided
Conflicting Classifications

CA350328

rs_55849827

10 SubmittersRCV000420428 RCV000515051 RCV001082870 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
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348732

rs_764649916

3 SubmittersRCV000204505 RCV002399766 RCV003236789

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

9 SubmittersRCV000205349 RCV000568553 RCV001167957 RCV001260352 RCV001657994 RCV003967551

NM_000136.3(FANCC):c.1330-8T>C

SNV
Germline

Chr9:95107277

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA350529

rs_864622221

2 SubmittersRCV000206510 RCV000666867

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

Criteria Provided
Conflicting Classifications

CA349426

rs_567226063

10 SubmittersRCV000205246 RCV000443939 RCV001024894 RCV001165847 RCV001354745

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
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349588

rs_765990832

7 SubmittersRCV000205428 RCV000570699 RCV001167423 RCV001705175 RCV001818501

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

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
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA350039

rs_864622193

10 SubmittersRCV000205952 RCV000222857 RCV000587389 RCV001800527 RCV002478727 RCV004764779

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

8 SubmittersRCV000206698 RCV000254722 RCV000665865

NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)

SNV
Germline

Chr17:43104882

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348195

rs_864622444

6 SubmittersRCV000203904 RCV001077807 RCV001180532 RCV002500651

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

6 SubmittersRCV000205780 RCV000564023 RCV003237768 RCV003462381

NM_058216.3(RAD51C):c.960G>C (p.Lys320Asn)

SNV
Germline

Chr17:58724095

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348863

rs_864622395

6 SubmittersRCV000204660 RCV000213392 RCV000780666 RCV001762438 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
Ovarian neoplasm
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350798

rs_774605759

9 SubmittersRCV000206799 RCV000409113 RCV000411587 RCV000581063 RCV002466467 RCV003316132

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

Criteria Provided
Conflicting Classifications

CA348966

rs_778916092

7 SubmittersRCV000204761 RCV000221756 RCV000320950 RCV001192827 RCV001575907

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

6 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
Ovarian neoplasm
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA348058

rs_864622277

9 SubmittersRCV000203783 RCV000449088 RCV000663311 RCV001781610 RCV003316134 RCV003477682

NM_032043.3(BRIP1):c.293A>G (p.Asn98Ser)

SNV
Germline

Chr17:61857144

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA350472

rs_781121675

7 SubmittersRCV000206440 RCV000478530 RCV000567628 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

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

CA055594

rs_753859240

13 SubmittersRCV000210142 RCV000234331 RCV000507484 RCV000584261 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
Fanconi anemia complementation group J
Familial cancer of breast
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

5 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_000136.3(FANCC):c.1663C>T (p.Arg555Ter)

SNV
Germline

Chr9:95101721

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5137288

rs_370974124

9 SubmittersRCV000218828 RCV000505654 RCV000818572 RCV002399801

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

Criteria Provided
Conflicting Classifications

CA5137322

rs_779982610

5 SubmittersRCV000222127 RCV000799605 RCV001011947 RCV004748668

NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg)

SNV
Germline

Chr9:95101750

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5137290

rs_571668582

6 SubmittersRCV000214884 RCV001355318 RCV001012385 RCV000543270

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

Criteria Provided
Conflicting Classifications

CA5137453

rs_778968824

4 SubmittersRCV000218892 RCV001828093 RCV002450653

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

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

Criteria Provided
Conflicting Classifications

CA10577378

rs_372338418

8 SubmittersRCV000575115 RCV000221946 RCV000477104 RCV003144167 RCV004748667 RCV001358152

NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)

SNV
Germline

Chr13:32339580

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6940856

rs_756463217

14 SubmittersRCV000216156 RCV000325274 RCV000382610 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
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian neoplasm
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA8690447

rs_200239986

13 SubmittersRCV000214349 RCV000215700 RCV000227974 RCV000662447 RCV001194733 RCV000709536 RCV000989990 RCV001030466

NM_032043.3(BRIP1):c.1760A>T (p.His587Leu)

SNV
Germline

Chr17:61780874

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
Ovarian neoplasm
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10577562

rs_876660646

8 SubmittersRCV000216569 RCV000219246 RCV000460900 RCV000662901 RCV001194199 RCV003316230

NM_032043.3(BRIP1):c.629C>A (p.Pro210His)

SNV
Germline

Chr17:61808756

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

CA8690872

rs_140097800

9 SubmittersRCV000213204 RCV000214330 RCV000465031 RCV000990027

NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter)

SNV
Germline

Chr17:61780858

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8690674

rs_753023295

4 SubmittersRCV000215063 RCV001013105 RCV003335268 RCV001047429

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 RCV004791350 RCV001089355

NM_000059.4(BRCA2):c.1274A>G (p.Glu425Gly)

SNV
Germline

Chr13:32332752

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6940501

rs_768169574

6 SubmittersRCV000222738 RCV001115059 RCV000701503 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
Breast and/or ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579578

rs_876660471

8 SubmittersRCV000221868 RCV000696715 RCV001109616 RCV001109617 RCV003150129 RCV002478813

NM_000059.4(BRCA2):c.5267T>A (p.Val1756Glu)

SNV
Germline

Chr13:32339622

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6940863

rs_770664957

5 SubmittersRCV000216072 RCV001112466 RCV001112024 RCV000985541 RCV001854705

NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu)

SNV
Germline

Chr13:32340702

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10579690

rs_55953736

7 SubmittersRCV000219720 RCV001311839 RCV001071124 RCV001535551 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
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6941257

rs_755783122

8 SubmittersRCV000215245 RCV000232530 RCV000307069 RCV000503308 RCV000662587 RCV003477718

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
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963396

rs_202222149

6 SubmittersRCV000218610 RCV000466966 RCV002500726

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
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963457

rs_61756146

10 SubmittersRCV000213330 RCV000236936 RCV000544190 RCV002267960 RCV002478799

NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)

SNV
Germline

Chr16:23622997

Pathogenic

Hereditary cancer-predisposing syndrome
Breast neoplasm
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
Multiple Submitters
No Conflicts

CA10579941

rs_876659036

9 SubmittersRCV000219424 RCV000504617 RCV000635907 RCV000657700 RCV004796114

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

Criteria Provided
Conflicting Classifications

CA10579957

rs_876659224

2 SubmittersRCV000216116 RCV001118199

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)
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963565

rs_536644825

6 SubmittersRCV000215537 RCV000687946 RCV000761094 RCV002494591

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
not specified
Familial cancer of breast
Fanconi anemia complementation group N
Condition: not provided
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA7963663

rs_769849072

11 SubmittersRCV000217926 RCV000436798 RCV000457514 RCV001121719 RCV002478785 RCV004532777

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
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963698

rs_756778249

11 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
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

CA10580022

rs_876659751

8 SubmittersRCV000220824 RCV000459883 RCV000679759 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
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA10580023

rs_876660876

5 SubmittersRCV000220349 RCV000235363 RCV000466160 RCV002494599

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

Reviewed By Expert Panel

CA10580498

rs_876658672

8 SubmittersRCV000223034 RCV004796113 RCV000257427 RCV001386034

NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)

SNV
Germline

Chr17:43063918

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10580499

rs_876660071

6 SubmittersRCV000218067 RCV000796831 RCV000989872 RCV002470823

NM_007294.4(BRCA1):c.2663A>C (p.His888Pro)

SNV
Germline

Chr17:43092868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580608

rs_876658843

6 SubmittersRCV000213188 RCV001051347 RCV000764122 RCV001589144

NM_007294.4(BRCA1):c.1886G>T (p.Arg629Ile)

SNV
Germline

Chr17:43093645

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10580645

rs_876660144

5 SubmittersRCV000218573 RCV001039828 RCV002485428

NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp)

SNV
Germline

Chr17:43093869

Conflicting classifications of pathogenicity

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

CA10580659

rs_876659028

8 SubmittersRCV000213495 RCV001762483 RCV000703330 RCV001527044 RCV003233502 RCV002503869

NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg)

SNV
Germline

Chr17:43094549

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
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.122A>T (p.His41Leu)

SNV
Germline

Chr17:43115738

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580711

rs_80357276

9 SubmittersRCV000221074 RCV000238698 RCV000484008 RCV001194451 RCV001292947

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
RAD51C-related disorder

Criteria Provided
Conflicting Classifications

CA10580732

rs_876660032

6 SubmittersRCV000220432 RCV000461218 RCV001785524 RCV004532802

NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)

SNV
Germline

Chr17:58695189

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8677207

rs_767796996

9 SubmittersRCV000217463 RCV001582758 RCV000458645 RCV000709503 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
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA8677291

rs_201529791

9 SubmittersRCV000220889 RCV000475356 RCV000759334 RCV000709507 RCV003153507 RCV004701292

NM_058216.3(RAD51C):c.705+1G>A

SNV
Germline

Chr17:58703330

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580748

rs_876658644

5 SubmittersRCV000218961 RCV000648247 RCV002503867 RCV004020657

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
RAD51C-related disorder
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

CA10580757

rs_876659874

12 SubmittersRCV000221970 RCV000236899 RCV000541903 RCV004532797 RCV000662608 RCV002221519

NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln)

SNV
Germline

Chr17:58724070

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

CA8677363

rs_779834376

6 SubmittersRCV000222506 RCV000505229 RCV001753654 RCV002290965

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

Criteria Provided
Conflicting Classifications

CA10580764

rs_876659303

4 SubmittersRCV000216715 RCV001485533 RCV003477735

NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter)

SNV
Germline

Chr17:58732523

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8677385

rs_759292615

3 SubmittersRCV000220031 RCV000232127 RCV000657741

NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu)

SNV
Germline

Chr17:61683309

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

CA10580767

rs_876660074

6 SubmittersRCV000222505 RCV004591002 RCV000636105 RCV001262871

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

2 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

Criteria Provided
Conflicting Classifications

CA8690401

rs_371185409

7 SubmittersRCV000215643 RCV000484982 RCV001087512 RCV001818520 RCV004732795

NM_032043.3(BRIP1):c.2905+1G>A

SNV
Germline

Chr17:61685835

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580785

rs_876660203

4 SubmittersRCV000216911 RCV000555856 RCV000663077 RCV003316227

NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val)

SNV
Germline

Chr17:61686055

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8690466

rs_764406913

6 SubmittersRCV000222623 RCV000458509 RCV000481975 RCV001798718

NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)

SNV
Germline

Chr17:61776445

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580817

rs_876659533

5 SubmittersRCV000223392 RCV000663038 RCV001041952 RCV003316221

NM_032043.3(BRIP1):c.1759C>G (p.His587Asp)

SNV
Germline

Chr17:61780875

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10580830

rs_876660519

9 SubmittersRCV000218989 RCV000473133 RCV000482369 RCV000662848 RCV003316229

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

Criteria Provided
Conflicting Classifications

CA8690768

rs_779237423

5 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
Familial cancer of breast
Fanconi anemia complementation group J
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

4 SubmittersRCV000222563 RCV000545432 RCV001194706

NM_032043.3(BRIP1):c.627+5G>A

SNV
Germline

Chr17:61847096

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
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.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.508-2A>T

SNV
Germline

Chr17:61847222

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

CA10580872

rs_876659707

3 SubmittersRCV000214929 RCV000695130 RCV003335258

NM_032043.3(BRIP1):c.507G>A (p.Gln169=)

SNV
Germline

Chr17:61849129

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580873

rs_876660937

6 SubmittersRCV000463637 RCV000220906 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

Criteria Provided
Conflicting Classifications

CA10580879

rs_876658195

6 SubmittersRCV000221937 RCV000463838 RCV002508202 RCV002466470

NM_032043.3(BRIP1):c.363T>A (p.Thr121=)

SNV
Germline

Chr17:61857074

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

CA10580883

rs_876660306

4 SubmittersRCV000222928 RCV004786602 RCV000473212 RCV003477759

NM_032043.3(BRIP1):c.362C>G (p.Thr121Ser)

SNV
Germline

Chr17:61857075

Conflicting classifications of pathogenicity

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8691019

rs_752411477

3 SubmittersRCV000216493 RCV001853547 RCV003335253

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5137697

rs_769039987

9 SubmittersRCV000224844 RCV000704130 RCV001023972 RCV000984264

NM_018062.4(FANCL):c.963T>A (p.Asp321Glu)

SNV
Germline

Chr2:58161579

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group L
FANCL-related disorder

Criteria Provided
Conflicting Classifications

CA1670371

rs_140088149

5 SubmittersRCV000233098 RCV001820756 RCV003316291 RCV003955361

NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr)

SNV
Germline

Chr3:10034732

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
FANCD2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2249178

rs_143936557

5 SubmittersRCV000239243 RCV000228749 RCV003967665 RCV002274988

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

Criteria Provided
Conflicting Classifications

CA2249667

rs_375412395

5 SubmittersRCV000234648 RCV001144941 RCV001557731 RCV002225530

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

8 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
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5039701

rs_201422773

7 SubmittersRCV000233650 RCV001168310 RCV004975348 RCV003430788

NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)

SNV
Germline

Chr9:35076767

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group G
FANCG-related disorder

Criteria Provided
Conflicting Classifications

CA5039921

rs_17880082

5 SubmittersRCV000228244 RCV000502617 RCV000764833 RCV003955346

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
Condition: not provided
Hereditary cancer-predisposing syndrome
FANCC-related disorder

Criteria Provided
Conflicting Classifications

CA10582665

rs_878853668

5 SubmittersRCV000234196 RCV001668390 RCV001010120 RCV003982972

NM_000136.3(FANCC):c.1073-4G>A

SNV
Germline

Chr9:95114714

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5137463

rs_147695697

4 SubmittersRCV000231256 RCV001467053 RCV000562007 RCV000666029

NM_000136.3(FANCC):c.897-8T>C

SNV
Germline

Chr9:95125193

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
FANCC-related disorder
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA10582668

rs_878853673

5 SubmittersRCV000227769 RCV001722207 RCV003907848 RCV000665770

NM_000136.3(FANCC):c.760A>G (p.Met254Val)

SNV
Germline

Chr9:95135429

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5137637

rs_757294568

8 SubmittersRCV000231342 RCV001354988 RCV001551720 RCV001026618 RCV001274479

NM_000136.3(FANCC):c.521+1G>A

SNV
Germline

Chr9:95171078

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10582670

rs_145394391

9 SubmittersRCV000780230 RCV000230742 RCV001023734 RCV003229824 RCV003897513

NM_000136.3(FANCC):c.457-7T>C

SNV
Germline

Chr9:95171150

Conflicting classifications of pathogenicity

Fanconi anemia
Malignant tumor of breast
not specified
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

CA5137727

rs_749994612

4 SubmittersRCV000227550 RCV001355792 RCV000441644 RCV000669135

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
Fanconi anemia complementation group F
FANCF-related disorder

Criteria Provided
Conflicting Classifications

CA5924364

rs_372625322

5 SubmittersRCV000229804 RCV001820763 RCV003153540 RCV003316303 RCV003955369

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
Hereditary cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5924392

rs_145057187

8 SubmittersRCV000225823 RCV000764969 RCV001820762 RCV003492014 RCV003884425

NM_000059.4(BRCA2):c.316+13A>G

SNV
Germline

Chr13:32319338

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6940341

rs_773097109

8 SubmittersRCV000378354 RCV000579746 RCV000586995 RCV001357840 RCV001094073 RCV000229296 RCV000607980

NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu)

SNV
Germline

Chr14:45151518

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7168910

rs_151071546

5 SubmittersRCV000233464 RCV001570689 RCV002255337 RCV001820757

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

Criteria Provided
Conflicting Classifications

CA7169365

rs_61744648

5 SubmittersRCV000227957 RCV001536588 RCV002256168 RCV004541448

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 complementation group I
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7722741

rs_151169233

8 SubmittersRCV001094367 RCV000233693 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

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
Fanconi anemia complementation group Q
ERCC4-related disorder

Criteria Provided
Conflicting Classifications

CA7910211

rs_2020961

3 SubmittersRCV000226103 RCV001294109 RCV003929973

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
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963465

rs_45464500

9 SubmittersRCV000229185 RCV000564890 RCV000587839 RCV002494663

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
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
not specified
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA10583365

rs_878855107

16 SubmittersRCV000233965 RCV000569446 RCV001119746 RCV001566044 RCV002487088 RCV001820767 RCV004739637

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
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Lung cancer
Fanconi anemia complementation group N
PALB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10583387

rs_878855122

16 SubmittersRCV000228882 RCV000255635 RCV000454231 RCV001175093 RCV002500815 RCV002282082 RCV003485568 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

Criteria Provided
Conflicting Classifications

CA7865286

rs_111738042

12 SubmittersRCV000243677 RCV000440447 RCV001086807 RCV001121536

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

8 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
Fanconi anemia complementation group A
Malignant tumor of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7866881

rs_137976282

12 SubmittersRCV000233422 RCV000764068 RCV000989506 RCV001005038 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

15 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
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8251499

rs_148250597

6 SubmittersRCV000234002 RCV001094432 RCV003477786 RCV004975340 RCV001818560

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
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252854

rs_61757384

8 SubmittersRCV000229339 RCV001117078 RCV002478833 RCV001532335 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

8 SubmittersRCV000231985 RCV001092318 RCV001094448

NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)

SNV
Germline

Chr16:89816575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8253266

rs_762648754

8 SubmittersRCV000233505 RCV000665027 RCV001770188 RCV001818561

NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu)

SNV
Germline

Chr17:43092128

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA057887

rs_80357136

5 SubmittersRCV000226768 RCV000484753 RCV000568567 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
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA8677187

rs_112832782

9 SubmittersRCV000231279 RCV000236604 RCV000568017 RCV002487092 RCV003463687 RCV001354084

NM_058216.3(RAD51C):c.258A>T (p.Thr86=)

SNV
Germline

Chr17:58695043

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
RAD51C-related disorder

Criteria Provided
Conflicting Classifications

CA8677188

rs_149228565

7 SubmittersRCV000575965 RCV000766483 RCV001087739 RCV003315240 RCV004532968

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

Criteria Provided
Conflicting Classifications

CA10583603

rs_878855178

4 SubmittersRCV000231632 RCV000582369 RCV003153542

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 cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10583607

rs_760235677

6 SubmittersRCV000226369 RCV000481912 RCV000409098 RCV003298308 RCV003317171

NM_058216.3(RAD51C):c.965+21A>G

SNV
Germline

Chr17:58724121

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8677371

rs_752811386

2 SubmittersRCV000227313 RCV000581346

NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr)

SNV
Germline

Chr17:61683924

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

CA8690394

rs_761225576

4 SubmittersRCV000233906 RCV000989983 RCV001175823

NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)

SNV
Germline

Chr17:61715964

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

CA10583622

rs_786203898

5 SubmittersRCV000229009 RCV000580273 RCV003335280

NM_032043.3(BRIP1):c.2238C>A (p.Ile746=)

SNV
Germline

Chr17:61744451

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

CA10583623

rs_876660416

5 SubmittersRCV000230937 RCV001183557 RCV003332156 RCV004786626

NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter)

SNV
Germline

Chr17:61744551

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10583625

rs_878855145

2 SubmittersRCV000229169 RCV003335279

NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)

SNV
Germline

Chr17:61776557

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10583627

rs_786202760

9 SubmittersRCV000226066 RCV000481541 RCV000582028 RCV000709542 RCV000990006 RCV003482141

NM_032043.3(BRIP1):c.1936-2A>G

SNV
Germline

Chr17:61776564

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
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

Familial cancer of breast
Fanconi anemia complementation group J
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
Malignant tumor of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690778

rs_754755989

7 SubmittersRCV000234456 RCV000574241 RCV001356030 RCV001582791 RCV004791364

NM_032043.3(BRIP1):c.357T>A (p.Asn119Lys)

SNV
Germline

Chr17:61857080

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
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

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

Criteria Provided
Conflicting Classifications

CA4582377

rs_569810249

5 SubmittersRCV000657067 RCV000765952 RCV001013301

NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)

SNV
Germline

Chr16:23629719

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7963575

rs_774502617

9 SubmittersRCV000235316 RCV000575251 RCV000635929 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
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA10584511

rs_879254051

6 SubmittersRCV000236085 RCV000470751 RCV000571493 RCV002487097

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

6 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
not specified
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA10584525

rs_879253891

7 SubmittersRCV000236918 RCV000575557 RCV000781688 RCV000823428 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
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA10584579

rs_879254131

5 SubmittersRCV000235241 RCV000567552 RCV000648254 RCV002500834 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.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
Malignant tumor of breast
not specified
FANCB-related disorder

Criteria Provided
Conflicting Classifications

CA10353003

rs_142959373

12 SubmittersRCV000292661 RCV000375315 RCV000437503 RCV000720996 RCV000990470 RCV001080424 RCV001269483 RCV001726070 RCV003907910

NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)

SNV
Germline

ChrX:14844672

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
History of neurodevelopmental disorder
Condition: not provided
Fanconi anemia complementation group B
FANCB-related disorder

Criteria Provided
Conflicting Classifications

CA10352977

rs_145110602

7 SubmittersRCV000236495 RCV000503767 RCV000721015 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_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
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8252300

rs_9282684

7 SubmittersRCV000249843 RCV000295581 RCV001516753 RCV001509534

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

2 SubmittersRCV000253915 RCV000367041

NM_000136.3(FANCC):c.996+1G>T

SNV
Germline

Chr9:95125085

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5137571

rs_370510954

9 SubmittersRCV000254963 RCV000412116 RCV000458747 RCV000574838

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

Criteria Provided
Conflicting Classifications

CA8251994

rs_139235751

19 SubmittersRCV000255908 RCV000475267 RCV000989672 RCV001800637 RCV003920022

NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)

SNV
Germline

Chr17:43094606

Pathogenic

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

Criteria Provided
Conflicting Classifications

CA10602584

rs_397509214

8 SubmittersRCV000258194 RCV000496749 RCV000797612 RCV002250609 RCV004796145

NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)

SNV
Germline

Chr13:32363315

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6941189

rs_756105620

8 SubmittersRCV000335958 RCV000510067 RCV000530767 RCV000586599 RCV001535652 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
Familial cancer of breast
Fanconi anemia complementation group J
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
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690839

rs_746599076

5 SubmittersRCV000319358 RCV000573698 RCV000636175

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_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

not specified
Fanconi anemia
Fanconi anemia complementation group D2
Condition: not provided
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA2250142

rs_56041034

7 SubmittersRCV000504499 RCV000383944 RCV001094917 RCV003229830 RCV003950197

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
Condition: not provided
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA2249999

rs_560600678

5 SubmittersRCV000323209 RCV001094878 RCV003430873 RCV003950196

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
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA2249233

rs_17032279

5 SubmittersRCV000317060 RCV001094770 RCV001821030 RCV002225594

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
Fanconi anemia
Condition: not provided
not specified
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA2249076

rs_147426418

7 SubmittersRCV000369094 RCV001469616 RCV000861289 RCV001821029 RCV003950194

NM_001018115.3(FANCD2):c.1116C>T (p.Ala372=)

SNV
Germline

Chr3:10043846

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D2
Fanconi anemia
FANCD2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2249500

rs_370078641

4 SubmittersRCV000323314 RCV002057812 RCV003912444 RCV003457677

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
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3771366

rs_145068586

6 SubmittersRCV000467424 RCV001269487 RCV001653707

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
Fanconi anemia complementation group E
not specified
FANCE-related disorder

Criteria Provided
Conflicting Classifications

CA3771465

rs_147356927

5 SubmittersRCV002256221 RCV000862983 RCV001821088 RCV003932471

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
Condition: not provided
Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

CA10627711

rs_182633348

4 SubmittersRCV000264260 RCV001574533 RCV001833482 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
Fanconi anemia complementation group G
FANCG-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5039652

rs_138855718

4 SubmittersRCV000281814 RCV001095314 RCV003957870 RCV004975488

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

4 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
not specified
Hereditary cancer-predisposing syndrome
Spermatogenic failure 28
Premature ovarian failure 15
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7168711

rs_142007602

9 SubmittersRCV000291828 RCV000767964 RCV001820925 RCV002256201 RCV003224257 RCV004537773

NM_020937.4(FANCM):c.527C>T (p.Thr176Ile)

SNV
Germline

Chr14:45137087

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
FANCM-related disorder
Spermatogenic failure 28

Criteria Provided
Conflicting Classifications

CA7168797

rs_77374493

7 SubmittersRCV000338024 RCV000503452 RCV001706479 RCV004537775 RCV001293001

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
FANCM-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7169137

rs_202171930

7 SubmittersRCV000269296 RCV000763930 RCV001030474 RCV001292875 RCV001590938 RCV004537777 RCV004999298

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
Fanconi anemia complementation group Q
Cockayne syndrome

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

5 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

2 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

8 SubmittersRCV000299065 RCV001242774 RCV001731595 RCV004021684

NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)

SNV
Germline

Chr16:89739538

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8250852

rs_376523966

6 SubmittersRCV001820952 RCV001094402 RCV003477891 RCV000368836

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
Fanconi anemia complementation group A
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8252481

rs_773318145

5 SubmittersRCV000343238 RCV001094429 RCV001820958 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
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8253042

rs_577625130

2 SubmittersRCV002522902 RCV000371929

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
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7169295

rs_181827583

3 SubmittersRCV000280719 RCV001030476 RCV001597071

NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)

SNV
Germline

Chr14:45175613

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Spermatogenic failure 28
Premature ovarian failure 15
Hepatoblastoma
Spermatogenic failure 28
not specified
Hereditary cancer-predisposing syndrome
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7169420

rs_142864437

11 SubmittersRCV000271250 RCV000585067 RCV000763932 RCV001843509 RCV001770252 RCV001820928 RCV002255362 RCV004537778

NM_020937.4(FANCM):c.4709G>A (p.Arg1570His)

SNV
Germline

Chr14:45187817

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary breast ovarian cancer syndrome
Condition: not provided
FANCM-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7169843

rs_201803784

5 SubmittersRCV000402989 RCV001030549 RCV003229827 RCV004544559 RCV002256202

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

Criteria Provided
Conflicting Classifications

CA7723426

rs_199627578

4 SubmittersRCV000309949 RCV001094279 RCV003401330

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
Fanconi anemia complementation group Q
Cockayne syndrome

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
Fanconi anemia complementation group Q
Cockayne syndrome

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

Criteria Provided
Conflicting Classifications

CA7910435

rs_3136151

4 SubmittersRCV000321953 RCV000529282 RCV001820939 RCV003422265

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

Criteria Provided
Conflicting Classifications

CA10643168

rs_747903103

2 SubmittersRCV000293210 RCV000350466 RCV003157506

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
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251322

rs_150884376

7 SubmittersRCV000398509 RCV001094409 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
not specified
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA10644645

rs_776301232

3 SubmittersRCV001458727 RCV003151027 RCV000388326

NM_000135.4(FANCA):c.1990A>G (p.Met664Val)

SNV
Germline

Chr16:89773295

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8251962

rs_748579719

3 SubmittersRCV001094415 RCV000348439

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

4 SubmittersRCV000302983 RCV001094443 RCV003912331

NM_000135.4(FANCA):c.793-9T>C

SNV
Germline

Chr16:89799647

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8252774

rs_757500718

6 SubmittersRCV000363325 RCV000501039 RCV001094265 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_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)

SNV
Germline

ChrX:14850507

Conflicting classifications of pathogenicity

Fanconi anemia complementation group B
VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia
not specified
Fanconi anemia complementation group B
VACTERL association, X-linked, with or without hydrocephalus
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10353043

rs_199510538

10 SubmittersRCV000331306 RCV000388194 RCV000524700 RCV000500090 RCV002488832 RCV002392931 RCV004713874

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 complementation group I
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7722895

rs_145864790

4 SubmittersRCV000403770 RCV001523326 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

6 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
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome

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
Fanconi anemia complementation group P
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7865791

rs_140254478

3 SubmittersRCV000269180 RCV001094382 RCV001310313

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

Conflicting classifications of pathogenicity

Fanconi anemia complementation group I
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7722786

rs_760412752

3 SubmittersRCV000293402 RCV002509364

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
Fanconi anemia complementation group P
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7866227

rs_75184268

4 SubmittersRCV000317859 RCV001094470 RCV001820947 RCV003422267

NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=)

SNV
Germline

Chr15:89305159

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7723593

rs_34462132

3 SubmittersRCV000317528 RCV001094318 RCV003237820

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

Criteria Provided
Conflicting Classifications

CA7866382

rs_200013924

3 SubmittersRCV000380894 RCV001094342

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
not specified
Xeroderma pigmentosum, group F

Criteria Provided
Conflicting Classifications

CA7910719

rs_139406689

3 SubmittersRCV000863529 RCV001820940 RCV000354867

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
Condition: not provided
not specified
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7866027

rs_139287784

9 SubmittersRCV000351349 RCV000679857 RCV002223834 RCV001820946 RCV003391153

NM_032444.4(SLX4):c.2006G>A (p.Arg669His)

SNV
Germline

Chr16:3595612

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7866337

rs_200807331

5 SubmittersRCV000386591 RCV000500030 RCV001094239 RCV003409497

NM_000135.4(FANCA):c.3999C>T (p.Phe1333=)

SNV
Germline

Chr16:89739489

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8250843

rs_774576283

2 SubmittersRCV001424627 RCV000399971

NM_000135.4(FANCA):c.3348+7G>T

SNV
Germline

Chr16:89748652

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8251230

rs_185527578

8 SubmittersRCV000394021 RCV000858420 RCV000989671 RCV001820954 RCV003940263

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

5 SubmittersRCV000259319 RCV001094419

NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)

SNV
Germline

Chr16:89778982

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8252124

rs_529199293

5 SubmittersRCV000329509 RCV001820957 RCV001512541

NM_000135.4(FANCA):c.688G>A (p.Val230Ile)

SNV
Germline

Chr16:89805301

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8252857

rs_144560850

7 SubmittersRCV000274943 RCV001094307 RCV001820959 RCV003922359

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

9 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
Fanconi anemia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10649312

rs_886052484

5 SubmittersRCV000375449 RCV002522898 RCV004975449 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
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8253054

rs_751309143

5 SubmittersRCV000286700 RCV001094364 RCV002522903

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
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10650615

rs_767164240

6 SubmittersRCV000260325 RCV000636193 RCV000572116 RCV000604455 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
Fanconi anemia
FANCC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16041334

rs_867319477

6 SubmittersRCV000409524 RCV000657699 RCV001059596 RCV003897826

NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter)

SNV
Unknown

Chr9:95101785

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

CA16041335

rs_1057516455

1 SubmittersRCV000411700

NM_000136.3(FANCC):c.1533+2T>C

SNV
Unknown

Chr9:95107064

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

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
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137319

rs_753885687

7 SubmittersRCV000409707 RCV001380007 RCV002392933

NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)

SNV
Germline

Chr9:95107082

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Single Submitter

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
Multiple Submitters
No Conflicts

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
Multiple Submitters
No Conflicts

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

Criteria Provided
Single Submitter

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/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041803

rs_372163487

8 SubmittersRCV000410151 RCV001223227 RCV001509537

NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)

SNV
Germline

Chr16:89811060

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041804

rs_1057516430

4 SubmittersRCV000409455 RCV001865263 RCV003126717

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16042147

rs_515726111

9 SubmittersRCV000409659 RCV001019201 RCV002481267 RCV003493565

NM_058216.3(RAD51C):c.77A>T (p.Lys26Met)

SNV
Germline

Chr17:58692720

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8677141

rs_746026526

7 SubmittersRCV000410630 RCV000409148 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

4 SubmittersRCV000410256 RCV000411364 RCV002392935

NM_032043.3(BRIP1):c.2576-17T>G

SNV
Unknown

Chr17:61686182

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Ovarian neoplasm
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16042173

rs_1057517647

2 SubmittersRCV000410228 RCV000410840 RCV003316519

NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)

SNV
Germline

Chr17:61744578

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16042174

rs_1057517643

6 SubmittersRCV000409317 RCV000411722 RCV000636132 RCV001267955 RCV002418233 RCV003316518

NM_032043.3(BRIP1):c.1140+11G>A

SNV
Germline

Chr17:61801242

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8690798

rs_369153270

5 SubmittersRCV000411365 RCV000410194 RCV000423409 RCV000579834 RCV002058861

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_000135.4(FANCA):c.2859C>G (p.Asp953Glu)

SNV
Germline

Chr16:89758699

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8251450

rs_149112292

15 SubmittersRCV000431238 RCV001080884 RCV001120358 RCV001821151 RCV003902464

NM_001018115.3(FANCD2):c.990-1G>A

SNV
Germline/somatic

Chr3:10043483

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group D2
Fanconi anemia
Acute myeloid leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA2249459

rs_112832879

6 SubmittersRCV000421802 RCV001535895 RCV002256229 RCV003234557

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

Criteria Provided
Conflicting Classifications

CA16605745

rs_1057521714

3 SubmittersRCV000807447 RCV001703825 RCV002446690

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.1071A>G (p.Gln357=)

SNV
Germline

Chr9:95117316

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16605898

rs_1057522128

3 SubmittersRCV000431526 RCV001273994 RCV002418291

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

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

Criteria Provided
Conflicting Classifications

CA16607223

rs_1057520982

5 SubmittersRCV000569467 RCV000923663 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
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16607409

rs_1057523068

4 SubmittersRCV000439254 RCV000552085 RCV000989997 RCV002446721

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
Fanconi anemia complementation group O
not specified
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677320

rs_747406535

9 SubmittersRCV000579663 RCV000662580 RCV001703562 RCV002061639 RCV002268047 RCV003150206 RCV003316532

NM_024675.4(PALB2):c.1611G>A (p.Ser537=)

SNV
Germline

Chr16:23634935

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7963693

rs_730881874

7 SubmittersRCV000572139 RCV000989569 RCV001121721 RCV001703482

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

Criteria Provided
Conflicting Classifications

CA16608562

rs_1057522948

4 SubmittersRCV000429108 RCV000579427 RCV001861599

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
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963569

rs_745747228

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16609607

rs_757369748

7 SubmittersRCV000454301 RCV000763378 RCV001380280 RCV000657579

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

4 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.1310T>C (p.Met437Thr)

SNV
Germline

Chr6:35459754

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
not specified
Fanconi anemia
FANCE-related disorder

Criteria Provided
Conflicting Classifications

CA3771662

rs_142903218

5 SubmittersRCV000474134 RCV001821341 RCV002256300 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_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_022725.4(FANCF):c.2T>G (p.Met1Arg)

SNV
Germline

Chr11:22625809

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA5924458

rs_745495865

1 SubmittersRCV000462200

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
Premature ovarian failure 15
Spermatogenic failure 28
Fanconi anemia complementation group A
Familial cancer of breast
FANCM-related disorder
Male infertility with spermatogenesis disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7169906

rs_147021911

12 SubmittersRCV000456962 RCV000585292 RCV000678209 RCV000677276 RCV000989212 RCV001250424 RCV004737537 RCV003991578

NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala)

SNV
Germline

Chr15:89260713

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
not specified

Criteria Provided
Conflicting Classifications

CA7722518

rs_149223439

4 SubmittersRCV000470517 RCV001115869 RCV003151064

NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)

SNV
Germline

Chr14:45176050

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Premature ovarian failure 15
Aplastic anemia
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7169492

rs_139382267

10 SubmittersRCV000475344 RCV000989208 RCV001569551 RCV001821346 RCV002257746 RCV003316605 RCV003447530 RCV004535465

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
not specified
Condition: not provided
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA7722663

rs_145939211

6 SubmittersRCV000459556 RCV001117325 RCV001821271 RCV003409624 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
Fanconi anemia complementation group I
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16614575

rs_933284199

6 SubmittersRCV000463193 RCV001121010 RCV001821273 RCV003237865 RCV004022682

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.1537A>G (p.Thr513Ala)

SNV
Germline

Chr16:23635009

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16614855

rs_1060502741

7 SubmittersRCV000474363 RCV000575626 RCV000587874 RCV001030235 RCV002480416

NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)

SNV
Germline

Chr16:23626254

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16614856

rs_995629797

9 SubmittersRCV000459119 RCV000568217 RCV000657580 RCV002489062

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
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

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

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

Criteria Provided
Conflicting Classifications

CA7865700

rs_141567438

7 SubmittersRCV000474038 RCV000996183 RCV001336769 RCV001194853

NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)

SNV
Germline

Chr16:3591279

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Fanconi anemia complementation group P
Fanconi anemia
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7866169

rs_140600202

10 SubmittersRCV000464063 RCV000502866 RCV001121832 RCV001081719 RCV003912802

NM_032444.4(SLX4):c.73G>A (p.Gly25Arg)

SNV
Germline

Chr16:3608892

Conflicting classifications of pathogenicity

Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

CA7866959

rs_201533738

3 SubmittersRCV000472372 RCV001821331

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
not specified
Fanconi anemia complementation group P
Condition: not provided
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7866291

rs_73505420

8 SubmittersRCV000468690 RCV001821332 RCV002489115 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
not specified
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA7866863

rs_144614070

4 SubmittersRCV000468758 RCV000501642 RCV000989505

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

4 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

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

Criteria Provided
Conflicting Classifications

CA8251153

rs_143671872

15 SubmittersRCV000474793 RCV000499924 RCV000765324 RCV001579530 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

7 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
Fanconi anemia complementation group A
Condition: not provided
not specified
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251308

rs_1800346

10 SubmittersRCV000458962 RCV001276506 RCV001764459 RCV001821345 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

10 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
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8252858

rs_148419748

5 SubmittersRCV000468822 RCV002496761 RCV003477955

NM_000135.4(FANCA):c.377C>T (p.Thr126Met)

SNV
Germline

Chr16:89810978

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8253048

rs_139160837

8 SubmittersRCV000464585 RCV001276567 RCV002264943 RCV002526413 RCV003902647

NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)

SNV
Germline

Chr16:23630458

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

Criteria Provided
Conflicting Classifications

CA7963668

rs_746582620

9 SubmittersRCV000461240 RCV000563652 RCV000586825 RCV002481446

NM_024675.4(PALB2):c.127A>G (p.Lys43Glu)

SNV
Germline

Chr16:23637934

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

CA7963836

rs_765125459

10 SubmittersRCV000474623 RCV000485071 RCV000580520 RCV002481445

NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile)

SNV
Germline

Chr16:3590882

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7866078

rs_145533919

5 SubmittersRCV000471089 RCV001821256 RCV002221540 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

Criteria Provided
Conflicting Classifications

CA7866305

rs_115866745

5 SubmittersRCV000477483 RCV001821336 RCV002221543 RCV004745411

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

11 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

3 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
Inborn genetic diseases
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8250579

rs_74977201

6 SubmittersRCV000463871 RCV001292767 RCV002475905 RCV002525658 RCV003960075

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

6 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_032444.4(SLX4):c.1637A>G (p.Tyr546Cys)

SNV
Germline

Chr16:3597425

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7866469

rs_150547487

8 SubmittersRCV000480800 RCV000767083 RCV000989501 RCV001085760 RCV001731703

NM_000135.4(FANCA):c.87G>A (p.Arg29=)

SNV
Germline

Chr16:89815979

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8253181

rs_760787108

3 SubmittersRCV000457883 RCV001120658 RCV004975543

NM_000135.4(FANCA):c.23A>G (p.Asn8Ser)

SNV
Germline

Chr16:89816593

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8253274

rs_757468756

3 SubmittersRCV000470449 RCV003237862

NM_000135.4(FANCA):c.4260+1G>A

SNV
Germline

Chr16:89738881

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615435

rs_1060501887

4 SubmittersRCV000460272 RCV000672332 RCV005001057

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

6 SubmittersRCV000465004 RCV001508800 RCV003153618 RCV004975520

NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)

SNV
Germline

Chr16:89749870

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8251332

rs_139289675

12 SubmittersRCV000469035 RCV001274568 RCV001573434 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

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16615461

rs_587782036

3 SubmittersRCV000477455 RCV003463922

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.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

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

Criteria Provided
Conflicting Classifications

CA16615485

rs_777213170

4 SubmittersRCV000459986 RCV000481412 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
Fanconi anemia complementation group J
Ovarian neoplasm
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690405

rs_147119272

6 SubmittersRCV000457812 RCV000570958 RCV000662973 RCV003316562 RCV004999449

NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)

SNV
Germline

Chr17:61784403

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
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

Familial cancer of breast
Fanconi anemia complementation group J
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.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

Criteria Provided
Conflicting Classifications

CA8690816

rs_755796609

9 SubmittersRCV000462189 RCV000563667 RCV001124866 RCV001194724 RCV001584150 RCV003463896 RCV004533180

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

7 SubmittersRCV000466277 RCV000562768 RCV000615685 RCV001721521 RCV004791482

NM_032043.3(BRIP1):c.553G>A (p.Ala185Thr)

SNV
Germline

Chr17:61847175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8690910

rs_745645356

4 SubmittersRCV000471201 RCV000581355 RCV001775807

NM_032043.3(BRIP1):c.226G>A (p.Val76Ile)

SNV
Germline

Chr17:61857211

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
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

Familial cancer of breast
Fanconi anemia complementation group J
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.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

4 SubmittersRCV000467585 RCV000571578 RCV004568045

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

Criteria Provided
Conflicting Classifications

CA16615780

rs_1060501781

6 SubmittersRCV000465302 RCV000589053 RCV000773139 RCV001563320

NM_032043.3(BRIP1):c.2492+8G>C

SNV
Germline

Chr17:61715943

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8690519

rs_772953115

5 SubmittersRCV000463134 RCV001178397 RCV003230511 RCV004540011 RCV004787754

NM_032043.3(BRIP1):c.2258-7G>A

SNV
Germline

Chr17:61743141

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16615801

rs_1060501777

2 SubmittersRCV000475191 RCV004787722

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

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16615821

rs_1060501774

3 SubmittersRCV000465286 RCV000775737

NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter)

SNV
Germline

Chr17:61857167

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
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

5 SubmittersRCV000461921 RCV000479866 RCV000580267 RCV003315428

NM_032043.3(BRIP1):c.205+2T>G

SNV
Germline

Chr17:61859794

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

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

VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia complementation group B
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
Malignant tumor of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137407

rs_756716463

4 SubmittersRCV000478222 RCV000702767 RCV001355099 RCV002413315

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
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137490

rs_780776360

4 SubmittersRCV000485919 RCV001834568 RCV002329158

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.473C>T (p.Ala158Val)

SNV
Germline

Chr9:95171127

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137724

rs_776429990

5 SubmittersRCV000485063 RCV001066884 RCV002341128

NM_000136.3(FANCC):c.349G>A (p.Val117Ile)

SNV
Germline

Chr9:95172144

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137757

rs_781167993

4 SubmittersRCV000482048 RCV001835817 RCV003168961

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_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
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
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

8 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.922A>G (p.Ser308Gly)

SNV
Germline

Chr17:43094609

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer 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
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10600223

rs_55767801

8 SubmittersRCV000481247 RCV000580929 RCV000637630 RCV000766450 RCV002481506 RCV004802055

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620494

rs_767796996

8 SubmittersRCV000478459 RCV000566450 RCV000576215 RCV003334388

NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln)

SNV
Germline

Chr17:58734188

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8677413

rs_577852020

9 SubmittersRCV000478660 RCV000569753 RCV000648261 RCV001195031 RCV003153662 RCV003464006

NM_032043.3(BRIP1):c.3058A>G (p.Thr1020Ala)

SNV
Germline

Chr17:61683988

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620511

rs_1064793073

4 SubmittersRCV000482641 RCV000569465 RCV000706762

NM_032043.3(BRIP1):c.2493-1G>A

SNV
Germline

Chr17:61693513

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
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.2258-1G>A

SNV
Germline

Chr17:61743135

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620520

rs_1064793887

8 SubmittersRCV000477981 RCV000785425 RCV000793928 RCV001014953 RCV001358193 RCV002287408 RCV003128245 RCV003335352

NM_032043.3(BRIP1):c.1628+11A>G

SNV
Germline

Chr17:61784259

Conflicting classifications of pathogenicity

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

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 cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA8690743

rs_761452695

6 SubmittersRCV000481033 RCV000575059 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

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

Criteria Provided
Conflicting Classifications

CA16620543

rs_1064795698

4 SubmittersRCV000487338 RCV000567711 RCV001478232 RCV004787787

NM_032043.3(BRIP1):c.487C>T (p.Pro163Ser)

SNV
Germline

Chr17:61849149

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620544

rs_1064795902

4 SubmittersRCV000483934 RCV000565081 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

8 SubmittersRCV000494388 RCV000666624 RCV001219227

NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)

SNV
Germline

Chr17:61744445

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400482848

rs_1257401983

12 SubmittersRCV000504601 RCV000576013 RCV000657691 RCV000694900 RCV001554339 RCV003492076 RCV003335408 RCV004586741

NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)

SNV
Germline

Chr17:43074352

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10592205

rs_1265352633

11 SubmittersRCV000504104 RCV000532651 RCV000735520 RCV000758836 RCV000765359 RCV000776618 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

4 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
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

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
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

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
Fanconi anemia complementation group P
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7865609

rs_139254595

6 SubmittersRCV000502567 RCV000860747 RCV001121628 RCV003942652

NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly)

SNV
Germline

Chr16:3589614

Conflicting classifications of pathogenicity

not specified
Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7865760

rs_140051968

4 SubmittersRCV000502403 RCV000862104 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

Criteria Provided
Conflicting Classifications

CA7865928

rs_766081510

3 SubmittersRCV000504455 RCV001857166 RCV004023404

NM_032444.4(SLX4):c.2118C>T (p.His706=)

SNV
Germline

Chr16:3594495

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA7866287

rs_371401752

2 SubmittersRCV000501193 RCV000860385

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

3 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

3 SubmittersRCV000499830 RCV001857096

NM_000135.4(FANCA):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:89816615

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397484679

rs_772751654

8 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
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
BRIP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8690678

rs_780020495

14 SubmittersRCV000503203 RCV000568917 RCV000657756 RCV000785424 RCV000804787 RCV003335432 RCV004535588

NM_032043.3(BRIP1):c.1141-9A>G

SNV
Germline

Chr17:61799308

Conflicting classifications of pathogenicity

Breast cancer, early-onset
not specified
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501151719

rs_1555607258

6 SubmittersRCV000500479 RCV000606663 RCV000776714 RCV001356605 RCV001405195 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

Criteria Provided
Conflicting Classifications

CA10352937

rs_747865842

4 SubmittersRCV000504138 RCV001857097 RCV004808737

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

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

Criteria Provided
Conflicting Classifications

CA645509353

rs_1555279969

4 SubmittersRCV000581674 RCV000868731 RCV001113449 RCV001113448 RCV004999552

NM_058216.3(RAD51C):c.186A>C (p.Gln62His)

SNV
Germline

Chr17:58694971

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA400339812

rs_28363303

5 SubmittersRCV000508321 RCV000699558 RCV001175680 RCV004701575

NM_032043.3(BRIP1):c.1182A>G (p.Glu394=)

SNV
Germline

Chr17:61799258

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA501151609

rs_1555607195

4 SubmittersRCV000507851 RCV002060165 RCV004787815 RCV004948374

NM_032043.3(BRIP1):c.387T>C (p.Pro129=)

SNV
Germline

Chr17:61849249

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

CA8690937

rs_779324498

5 SubmittersRCV000507927 RCV000548940 RCV001021345 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 cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387786063

rs_80358781

6 SubmittersRCV000509970 RCV000692500 RCV001113817 RCV001113818

NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter)

SNV
Germline

Chr14:45167133

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia
Spermatogenic failure 28
Hereditary cancer-predisposing syndrome
FANCM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7169194

rs_368728266

7 SubmittersRCV000513240 RCV000705743 RCV001293940 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

Criteria Provided
Conflicting Classifications

CA5137785

rs_771619614

4 SubmittersRCV000518928 RCV000687151 RCV001016395

NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)

SNV
Germline

Chr15:89268467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7722781

rs_142906652

10 SubmittersRCV000523947 RCV000529696 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
Fanconi anemia complementation group J
Familial cancer of breast
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
Condition: not provided
not specified
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

CA2249106

rs_45510294

10 SubmittersRCV000538452 RCV001150741 RCV001528593 RCV001821498 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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3771352

rs_758238449

6 SubmittersRCV000537323 RCV001821581 RCV001797103 RCV002530181

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
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA5137405

rs_767126985

4 SubmittersRCV000988201 RCV002448612 RCV003478125 RCV001394428

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
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374109706

rs_1457631500

4 SubmittersRCV000527037 RCV002358436 RCV002051864

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.246A>G (p.Ala82=)

SNV
Germline

Chr9:95247436

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA466274490

rs_1554857810

2 SubmittersRCV000543469 RCV004023747

NM_000136.3(FANCC):c.112G>C (p.Val38Leu)

SNV
Germline

Chr9:95249180

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374340308

rs_778951584

2 SubmittersRCV000527400 RCV002323915

NM_000136.3(FANCC):c.896+1G>C

SNV
Germline

Chr9:95126528

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

CA374109045

rs_1554833186

2 SubmittersRCV000530897

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_020937.4(FANCM):c.30G>A (p.Gln10=)

SNV
Germline

Chr14:45136061

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Hereditary cancer-predisposing syndrome
FANCM-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7168684

rs_145745979

7 SubmittersRCV000545488 RCV001788277 RCV002255432 RCV004537900 RCV004975635

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

Criteria Provided
Conflicting Classifications

CA7169123

rs_148810507

6 SubmittersRCV000536634 RCV001293939 RCV001584242 RCV002255431 RCV003492091

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

6 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
not specified
Condition: not provided
Premature ovarian failure 15

Criteria Provided
Conflicting Classifications

CA7168688

rs_146609069

10 SubmittersRCV000554625 RCV000763926 RCV000989207 RCV001821483 RCV001770408 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
Premature ovarian failure 15
Spermatogenic failure 28
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
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Condition: not provided
not specified
Xeroderma pigmentosum

Criteria Provided
Conflicting Classifications

CA7910153

rs_148791570

5 SubmittersRCV000547965 RCV001117537 RCV001569666 RCV001821617 RCV002257839

NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe)

SNV
Germline

Chr16:13932214

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
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
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

CA7866875

rs_377500336

3 SubmittersRCV000537241 RCV001120333

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

Criteria Provided
Conflicting Classifications

CA8251983

rs_377401016

6 SubmittersRCV000557762 RCV003960254 RCV001821475 RCV002490944 RCV003326450

NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)

SNV
Germline

Chr16:89795941

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397469937

rs_1447363475

5 SubmittersRCV000527193 RCV000673548 RCV005001074

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
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

CA7963481

rs_778602038

8 SubmittersRCV000534984 RCV000572648 RCV000759902 RCV002490998

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
Malignant tumor of breast
Fanconi anemia complementation group N
Condition: not provided
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA279499381

rs_911713488

8 SubmittersRCV000557022 RCV000567452 RCV001354533 RCV001118311 RCV001171908 RCV001357885

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

Criteria Provided
Conflicting Classifications

CA494173743

rs_1282821765

6 SubmittersRCV000528385 RCV000602592 RCV001020184 RCV001121623 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
Fanconi anemia complementation group P
Condition: not provided
not specified
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7865871

rs_142008398

7 SubmittersRCV000552069 RCV001293953 RCV001572565 RCV003151083 RCV003960260

NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala)

SNV
Germline

Chr16:3592736

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Condition: not provided
SLX4-related disorder

Criteria Provided
Conflicting Classifications

CA7866207

rs_151105762

6 SubmittersRCV000558751 RCV001821488 RCV003156249 RCV003915485

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_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

4 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

11 SubmittersRCV000542670 RCV001120360 RCV001562680 RCV003409764

NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)

SNV
Germline

Chr16:89775771

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8251997

rs_146491000

7 SubmittersRCV000555138 RCV002293448 RCV002476088 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

6 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
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400479625

rs_876659410

4 SubmittersRCV000535997 RCV000579710 RCV000587115

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

Criteria Provided
Conflicting Classifications

CA501151110

rs_1555590464

6 SubmittersRCV000546651 RCV000574495 RCV001551550 RCV003316702

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.380-7A>G

SNV
Germline

Chr17:61849263

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8690939

rs_748143260

6 SubmittersRCV000560139 RCV001526177 RCV004689784 RCV004787878

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
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501151410

rs_764027029

5 SubmittersRCV000535184 RCV000777013 RCV004767347 RCV004787871

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

Criteria Provided
Conflicting Classifications

CA8253102

rs_746125523

3 SubmittersRCV000552747 RCV005000126

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 cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA400359832

rs_1555602158

4 SubmittersRCV000553972 RCV000564740 RCV000709517

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
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677366

rs_367846829

6 SubmittersRCV000526400 RCV000561452 RCV000781791 RCV001591317 RCV003470801

NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter)

SNV
Germline

Chr17:58732512

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

CA400364974

rs_1555605074

7 SubmittersRCV000568757 RCV000576180 RCV000579112 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

Fanconi anemia complementation group J
Familial cancer of breast
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_058216.3(RAD51C):c.966-8T>G

SNV
Germline

Chr17:58732476

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

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

Criteria Provided
Conflicting Classifications

CA8690649

rs_777006706

7 SubmittersRCV000552644 RCV000615895 RCV000662553 RCV001185499 RCV003316701

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400340403

rs_1555593616

6 SubmittersRCV000535884 RCV000573983 RCV002497205 RCV003459268

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

Criteria Provided
Conflicting Classifications

CA8690851

rs_376893571

9 SubmittersRCV000534123 RCV000580310 RCV000759716 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

Criteria Provided
Conflicting Classifications

CA400366049

rs_1160208500

3 SubmittersRCV000547645 RCV000562130

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

Criteria Provided
Conflicting Classifications

CA292281934

rs_189758577

7 SubmittersRCV000528910 RCV000581727 RCV000590700 RCV003144328 RCV003459211

NM_032043.3(BRIP1):c.1628+5G>A

SNV
Germline

Chr17:61784265

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8690711

rs_754929230

8 SubmittersRCV000572734 RCV000557392 RCV000586595 RCV003144327 RCV003459210 RCV004701622

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_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

4 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
Familial cancer of breast
Fanconi anemia complementation group N
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.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

5 SubmittersRCV000563462 RCV000764049 RCV000989562

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
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA7963609

rs_142343372

8 SubmittersRCV000566180 RCV000689640 RCV001030288 RCV001775883 RCV002491122

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.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_007294.4(BRCA1):c.117T>A (p.Cys39Ter)

SNV
Germline

Chr17:43115743

Pathogenic

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
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10601926

rs_886040898

5 SubmittersRCV000574685 RCV000763400 RCV000780971 RCV001076589

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

Criteria Provided
Conflicting Classifications

CA400365093

rs_1057521598

6 SubmittersRCV000567794 RCV000648289 RCV001354176 RCV001764646 RCV002291669

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.246C>G (p.His82Gln)

SNV
Germline

Chr17:58695031

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA400340355

rs_1555593602

3 SubmittersRCV000568378 RCV001853743 RCV005000298

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.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

Criteria Provided
Multiple Submitters
No Conflicts

CA400348971

rs_1413872299

7 SubmittersRCV000562532 RCV000755025 RCV001068269

NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter)

SNV
Germline

Chr17:58732536

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

4 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.1474-1G>A

SNV
Germline

Chr17:61784425

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400481794

rs_1555603638

7 SubmittersRCV000569916 RCV000662723 RCV000758988 RCV000780062 RCV001867860

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

Criteria Provided
Conflicting Classifications

CA8690444

rs_373835270

4 SubmittersRCV000565993 RCV000636100 RCV001571712

NM_032043.3(BRIP1):c.2379+1G>A

SNV
Germline

Chr17:61743012

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

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

Criteria Provided
Conflicting Classifications

CA8690852

rs_771542690

5 SubmittersRCV000561737 RCV001227266 RCV001194705

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
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690615

rs_754400631

5 SubmittersRCV000567916 RCV000781174 RCV001443618 RCV004791589 RCV004797836

NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)

SNV
Germline

Chr17:61776557

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400478637

rs_786202760

8 SubmittersRCV000565890 RCV000657705 RCV000690470 RCV001526941 RCV001783077 RCV003335517

NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter)

SNV
Germline

Chr17:61793656

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400482158

rs_1555605902

4 SubmittersRCV000575093 RCV000694857 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
Familial cancer of breast
Fanconi anemia complementation group J

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

Criteria Provided
Conflicting Classifications

CA501150872

rs_747604569

5 SubmittersRCV000565098 RCV000636227 RCV001530566 RCV004787904

NM_032043.3(BRIP1):c.305A>G (p.Gln102Arg)

SNV
Germline

Chr17:61857132

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA400485406

rs_1484234707

3 SubmittersRCV000566912 RCV000636126

NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)

SNV
Germline

Chr17:61859808

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8690981

rs_575595017

7 SubmittersRCV000568753 RCV000588194 RCV000636179 RCV000657727 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.259T>A (p.Cys87Ser)

SNV
Germline

Chr17:61857178

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA400485515

rs_1555617897

4 SubmittersRCV000564994 RCV000802648 RCV001755930

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

2 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

Criteria Provided
Conflicting Classifications

CA8677206

rs_766221834

5 SubmittersRCV000565607 RCV000648277 RCV001269242 RCV004767405

NM_058216.3(RAD51C):c.904+1G>T

SNV
Germline

Chr17:58720813

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

CA400359845

rs_1555602159

6 SubmittersRCV000571657 RCV001047716 RCV000986014 RCV003459305

NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met)

SNV
Germline

Chr17:61683353

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

CA292267084

rs_1046992728

4 SubmittersRCV000569978 RCV000989970 RCV001055410

NM_032043.3(BRIP1):c.2472C>T (p.Ala824=)

SNV
Germline

Chr17:61715971

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

CA8690524

rs_767666616

6 SubmittersRCV000574587 RCV000759710 RCV001078779 RCV003316734

NM_032043.3(BRIP1):c.1936-1G>A

SNV
Germline

Chr17:61776563

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400478665

rs_1555601204

4 SubmittersRCV000566261 RCV001289543 RCV001821665 RCV001858150

NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter)

SNV
Germline

Chr17:61685874

Pathogenic/Likely pathogenic

Ovarian neoplasm
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA8690445

rs_761639530

2 SubmittersRCV000576318 RCV001853824

NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)

SNV
Germline

Chr17:61685911

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8690450

rs_140233356

5 SubmittersRCV000576521 RCV001853825 RCV003335527 RCV003302896

NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter)

SNV
Germline

Chr17:61861500

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400486016

rs_1555618727

3 SubmittersRCV000576446 RCV001021864 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.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_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
Fanconi anemia complementation group N

Criteria Provided
Multiple Submitters
No Conflicts

CA7963843

rs_774949203

7 SubmittersRCV000579887 RCV000794723 RCV001030120 RCV003133384

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

Criteria Provided
Conflicting Classifications

CA8677197

rs_778313181

3 SubmittersRCV000579692 RCV002529109

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

Criteria Provided
Conflicting Classifications

CA621661650

rs_1407045774

3 SubmittersRCV000583916 RCV001116751 RCV002061896

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

Criteria Provided
Conflicting Classifications

CA292270156

rs_890923836

5 SubmittersRCV000581242 RCV001704691 RCV002061781 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
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA292286062

rs_1028347439

7 SubmittersRCV000581764 RCV001234227 RCV001783084 RCV003336067

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.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.955C>A (p.Arg319=)

SNV
Germline

Chr17:58724090

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA501075922

rs_587781287

2 SubmittersRCV000583605 RCV001860099

NM_058216.3(RAD51C):c.435A>G (p.Pro145=)

SNV
Germline

Chr17:58696723

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292050269

rs_555235745

6 SubmittersRCV000581354 RCV000648279 RCV000599947 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
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400479077

rs_587780830

5 SubmittersRCV000581888 RCV000636141 RCV000989981 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
Familial cancer of breast
Fanconi anemia complementation group J

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
Familial cancer of breast
Fanconi anemia complementation group J

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
Familial cancer of breast
Fanconi anemia complementation group J
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
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400481553

rs_1483709056

3 SubmittersRCV000583724 RCV001227207

NM_032043.3(BRIP1):c.14G>A (p.Trp5Ter)

SNV
Germline

Chr17:61861526

Pathogenic/Likely pathogenic

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

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
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400337593

rs_879254131

7 SubmittersRCV000583921 RCV001056321 RCV001328424 RCV001770535 RCV003315439

NM_058216.3(RAD51C):c.404+7T>C

SNV
Germline

Chr17:58695196

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA627144591

rs_1350153132

5 SubmittersRCV000581260 RCV000603566 RCV001128606 RCV001128605

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

Criteria Provided
Conflicting Classifications

CA8677260

rs_776730538

2 SubmittersRCV000582239 RCV000877024

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
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658684156

rs_1057517647

6 SubmittersRCV000583092 RCV000615869 RCV002061783 RCV003150285 RCV004791614

NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter)

SNV
Germline

Chr17:61744471

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400482947

rs_1555591361

5 SubmittersRCV000581423 RCV003336071 RCV003767302

NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter)

SNV
Germline

Chr17:43092822

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10596579

rs_1555589094

3 SubmittersRCV000585811 RCV000585837 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
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
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

9 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
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

CA8252812

rs_201992220

4 SubmittersRCV000593561 RCV001243169 RCV002483594

NM_058216.3(RAD51C):c.905-20A>G

SNV
Germline

Chr17:58724020

Conflicting classifications of pathogenicity

not specified
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

CA292069093

rs_950351911

5 SubmittersRCV000606113 RCV001190492 RCV002498917 RCV002063145

NM_032043.3(BRIP1):c.1794+6C>T

SNV
Germline

Chr17:61780834

Conflicting classifications of pathogenicity

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

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
Inborn genetic diseases
FANCA-related disorder

Criteria Provided
Conflicting Classifications

CA8252237

rs_755925068

5 SubmittersRCV000625425 RCV001036418 RCV004975716 RCV004742539

NM_000136.3(FANCC):c.346-1G>A

SNV
Germline

Chr9:95172148

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA374338924

rs_1484503633

9 SubmittersRCV000625771 RCV001042914 RCV001195046 RCV002334038 RCV003411478

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

3 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

Criteria Provided
Conflicting Classifications

CA2250423

rs_549507714

3 SubmittersRCV000630908 RCV002528847 RCV003153771

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
not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA3771765

rs_139547269

4 SubmittersRCV000648999 RCV002235507 RCV002257904

NM_000136.3(FANCC):c.1281C>T (p.Ala427=)

SNV
Germline

Chr9:95111511

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5137404

rs_754604606

5 SubmittersRCV000631015 RCV001169820 RCV001484609 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

Hereditary cancer-predisposing syndrome
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137460

rs_761336987

4 SubmittersRCV001017222 RCV000630907 RCV004588056

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

Criteria Provided
Conflicting Classifications

CA6940687

rs_765232270

4 SubmittersRCV000637783 RCV003338700 RCV003157798

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
Spermatogenic failure 28
Premature ovarian failure 15
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
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA7169893

rs_769919966

3 SubmittersRCV000631000 RCV001797116 RCV001030553

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

Criteria Provided
Conflicting Classifications

CA7168689

rs_199699785

4 SubmittersRCV000630898 RCV001541811 RCV002255481

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
Familial cancer of breast
Azoospermia
not specified
Condition: not provided
Hereditary nonpolyposis colorectal carcinoma
Premature ovarian failure 15

Criteria Provided
Multiple Submitters
No Conflicts

CA7170069

rs_144567652

13 SubmittersRCV000630904 RCV000722040 RCV000677277 RCV001250442 RCV001797115 RCV001821777 RCV001531186 RCV002245059 RCV004595521

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
Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Xeroderma pigmentosum
Inborn genetic diseases
ERCC4-related disorder

Criteria Provided
Conflicting Classifications

CA7910562

rs_2020952

7 SubmittersRCV000651479 RCV000989534 RCV001788310 RCV002257913 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
Fanconi anemia complementation group I
not specified
FANCI-related disorder

Criteria Provided
Conflicting Classifications

CA7723221

rs_150231327

4 SubmittersRCV000630965 RCV001119037 RCV001821779 RCV003945584

NM_005236.3(ERCC4):c.714G>A (p.Lys238=)

SNV
Germline

Chr16:13928157

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome
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_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

7 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
Fanconi anemia complementation group A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251738

rs_138248569

8 SubmittersRCV000630849 RCV001271599 RCV001821773 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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8251806

rs_137913973

6 SubmittersRCV000630862 RCV001292817 RCV003478349 RCV004975720

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

Criteria Provided
Conflicting Classifications

CA8250924

rs_142919010

8 SubmittersRCV000630946 RCV001274554 RCV002261136 RCV002528848 RCV004742542

NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)

SNV
Germline

Chr16:89742832

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8251008

rs_745665658

9 SubmittersRCV000630834 RCV001821772 RCV001121952 RCV003478348 RCV003935751

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
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8251928

rs_767396631

6 SubmittersRCV000630911 RCV001271605 RCV001756040

NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)

SNV
Germline

Chr16:89773381

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8251971

rs_142217479

6 SubmittersRCV001771851 RCV000630927 RCV001120168 RCV003945583

NM_000135.4(FANCA):c.1143G>A (p.Thr381=)

SNV
Germline

Chr16:89792009

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA8252499

rs_1800331

2 SubmittersRCV001120560 RCV000631010

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 complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8251481

rs_755922289

11 SubmittersRCV000666705 RCV000630961 RCV001569733

NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)

SNV
Germline

Chr17:43067626

Conflicting classifications of pathogenicity

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
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591407

rs_1555579648

7 SubmittersRCV000637812 RCV000765358 RCV001076299 RCV001186735

NM_058216.3(RAD51C):c.19C>A (p.Arg7Ser)

SNV
Germline

Chr17:58692662

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA400336232

rs_759759863

4 SubmittersRCV000648251 RCV001013997 RCV001592805

NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter)

SNV
Germline

Chr17:61686152

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
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

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

Criteria Provided
Conflicting Classifications

CA10595778

rs_1555588389

4 SubmittersRCV000637337 RCV000764120 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA400484474

rs_762701532

3 SubmittersRCV000636081 RCV003336103 RCV004025468

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
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8690938

rs_780921390

6 SubmittersRCV000636207 RCV000990038 RCV001185471 RCV001584468 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

Fanconi anemia complementation group J
Familial cancer of breast
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482454

rs_1555574803

3 SubmittersRCV000636075 RCV003162845 RCV003336100

NM_032043.3(BRIP1):c.507G>T (p.Gln169His)

SNV
Germline

Chr17:61849129

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485866

rs_373104267

6 SubmittersRCV000636074 RCV001182086 RCV002289938

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

4 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

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

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

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

Criteria Provided
Conflicting Classifications

CA626807418

rs_1322162359

3 SubmittersRCV000636133 RCV001017433 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

rs_915983602

4 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

rs_1216426444

1 SubmittersRCV000656367 RCV000656369

NM_032043.3(BRIP1):c.3340C>T (p.Gln1114Ter)

SNV
Germline

Chr17:61683706

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

rs_1555615763

3 SubmittersRCV000657683 RCV002343402 RCV003767890

NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly)

SNV
Germline

Chr17:58692647

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_758029117

7 SubmittersRCV000663126 RCV000772906 RCV000986010 RCV001861727 RCV003316791

NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)

SNV
Germline

Chr17:61793710

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555605955

5 SubmittersRCV000663127 RCV002386137 RCV003316792 RCV003325510

NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)

SNV
Germline

Chr9:95107182

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1410356625

8 SubmittersRCV000666989 RCV001381636 RCV002388175 RCV004723049

NM_000136.3(FANCC):c.1329+238C>T

SNV
Germline

Chr9:95111225

Conflicting classifications of pathogenicity

Fanconi anemia complementation group C
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_768988593

2 SubmittersRCV000665191 RCV003480749

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

rs_1554830249

3 SubmittersRCV000670553 RCV001868245 RCV004619375

NM_000136.3(FANCC):c.3G>T (p.Met1Ile)

SNV
Germline

Chr9:95249289

Pathogenic/Likely pathogenic

Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1368374192

2 SubmittersRCV000673122 RCV001021633

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
Multiple Submitters
No Conflicts

rs_1364238660

2 SubmittersRCV000672742 RCV002388182

NM_000136.3(FANCC):c.1534-2A>G

SNV
Unknown

Chr9:95101852

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

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
Multiple Submitters
No Conflicts

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

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

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

rs_1228886763

2 SubmittersRCV000669102 RCV002531216

NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter)

SNV
Unknown

Chr9:95111551

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

rs_200719554

1 SubmittersRCV000672089

NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter)

SNV
Unknown

Chr9:95111610

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

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
Multiple Submitters
No Conflicts

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

rs_745882980

9 SubmittersRCV000670597 RCV000801328

NM_000135.4(FANCA):c.3935-1G>T

SNV
Germline

Chr16:89739554

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

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

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

rs_753700179

8 SubmittersRCV000672199 RCV001222479

NM_000135.4(FANCA):c.3934+2T>C

SNV
Germline

Chr16:89739992

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_771775516

5 SubmittersRCV000669249 RCV003767972 RCV004702288

NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)

SNV
Germline

Chr16:89740044

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_986710868

3 SubmittersRCV000674049 RCV002532156

NM_000135.4(FANCA):c.3626+1G>T

SNV
Unknown

Chr16:89744958

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_34885858

1 SubmittersRCV000668012

NM_000135.4(FANCA):c.3348+1G>A

SNV
Germline

Chr16:89748658

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_751266148

5 SubmittersRCV000668641 RCV001270082 RCV001246767 RCV003420183

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

rs_1302083447

7 SubmittersRCV000671893 RCV000796523 RCV001816676

NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)

SNV
Germline

Chr16:89744993

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_1381684916

2 SubmittersRCV000671105

NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter)

SNV
Unknown

Chr16:89746857

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

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

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
Multiple Submitters
No Conflicts

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

rs_1490352414

5 SubmittersRCV000672136 RCV001797781

NM_000135.4(FANCA):c.2222+1G>C

SNV
Germline

Chr16:89770563

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

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

rs_927630499

4 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

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

rs_947311062

5 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
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_750257902

4 SubmittersRCV000670612 RCV002532102 RCV003478394

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

rs_750997715

4 SubmittersRCV000667523 RCV002532064

NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)

SNV
Germline

Chr16:89767213

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1247378731

5 SubmittersRCV000672395 RCV001384720

NM_000135.4(FANCA):c.2151+2T>C

SNV
Germline

Chr16:89771676

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

rs_937874201

3 SubmittersRCV001861792 RCV000670390

NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)

SNV
Germline

Chr16:89771722

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555548512

4 SubmittersRCV000667754 RCV000822096

NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro)

SNV
Germline

Chr16:89771778

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_762526878

2 SubmittersRCV000672786

NM_000135.4(FANCA):c.709+2T>C

SNV
Germline

Chr16:89805278

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555571116

3 SubmittersRCV000670112 RCV000786794 RCV001868239

NM_000135.4(FANCA):c.2015-1G>A

SNV
Unknown

Chr16:89771815

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

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
Multiple Submitters
No Conflicts

rs_1485075318

2 SubmittersRCV000669366 RCV003237984

NM_000135.4(FANCA):c.597-1G>C

SNV
Germline

Chr16:89805393

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_753980264

6 SubmittersRCV000674201 RCV001069523 RCV003222094

NM_000135.4(FANCA):c.1475A>G (p.His492Arg)

SNV
Germline

Chr16:89783098

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

rs_925457555

3 SubmittersRCV000669501

NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)

SNV
Germline

Chr16:89808341

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_758528624

3 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

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
Multiple Submitters
No Conflicts

rs_1365019056

2 SubmittersRCV000674016 RCV003523013

NM_000135.4(FANCA):c.457C>G (p.Gln153Glu)

SNV
Germline

Chr16:89810772

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_774448881

2 SubmittersRCV000672567 RCV002531318

NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)

SNV
Germline

Chr16:89791458

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_1060501879

5 SubmittersRCV000672654 RCV001378203

NM_000135.4(FANCA):c.190-2A>T

SNV
Germline

Chr16:89814615

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_183350210

4 SubmittersRCV000670932 RCV001256211 RCV001868249

NM_000135.4(FANCA):c.80-1G>T

SNV
Unknown

Chr16:89815987

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_751076878

1 SubmittersRCV000669616

NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)

SNV
Germline

Chr16:89791495

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

rs_774026652

3 SubmittersRCV001683628 RCV000674566

NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)

SNV
Germline

Chr16:89816551

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_761341952

14 SubmittersRCV000665314 RCV000812393 RCV001509539 RCV004742561

NM_000135.4(FANCA):c.3G>T (p.Met1Ile)

SNV
Germline

Chr16:89816613

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

rs_1555581729

2 SubmittersRCV000671694

NM_000135.4(FANCA):c.793-3C>G

SNV
Germline

Chr16:89799641

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

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

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
Multiple Submitters
No Conflicts

rs_1477653630

4 SubmittersRCV000666294 RCV001379949 RCV003151132

NM_000135.4(FANCA):c.189+1G>A

SNV
Germline

Chr16:89815876

Likely pathogenic

Condition: not provided
Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_891323617

5 SubmittersRCV000996416 RCV000674205 RCV001377209

NM_000135.4(FANCA):c.2T>C (p.Met1Thr)

SNV
Germline

Chr16:89816614

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_769479800

10 SubmittersRCV000669920 RCV000699054 RCV001509540

NM_000135.4(FANCA):c.2T>A (p.Met1Lys)

SNV
Germline

Chr16:89816614

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

rs_769479800

2 SubmittersRCV000672220

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

rs_772751654

5 SubmittersRCV000669511 RCV001387726

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

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

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

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

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

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
Multiple Submitters
No Conflicts

rs_1555545592

3 SubmittersRCV000671414 RCV002531281

NM_000135.4(FANCA):c.894-2A>G

SNV
Germline

Chr16:89796020

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_976556567

5 SubmittersRCV000673435 RCV002255501

NM_000135.4(FANCA):c.827-1G>C

SNV
Unknown

Chr16:89799233

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_753728435

1 SubmittersRCV000671987

NM_000135.4(FANCA):c.710-1G>C

SNV
Unknown

Chr16:89803342

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

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
Multiple Submitters
No Conflicts

rs_746518509

2 SubmittersRCV000671161 RCV001379453

NM_000135.4(FANCA):c.283+1G>T

SNV
Germline

Chr16:89814519

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_772858764

5 SubmittersRCV000668648 RCV001211107

NM_000135.4(FANCA):c.79+1G>C

SNV
Unknown

Chr16:89816536

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

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

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

rs_772751654

5 SubmittersRCV000668991 RCV001861771 RCV004721540

NM_000135.4(FANCA):c.4260+2T>A

SNV
Unknown

Chr16:89738880

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

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
Fanconi anemia
Microcephaly
not specified
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_201494304

7 SubmittersRCV000669832 RCV001246136 RCV001252842 RCV003155269 RCV003153795

NM_000135.4(FANCA):c.3829-9G>A

SNV
Germline

Chr16:89740108

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_776077648

2 SubmittersRCV000670656 RCV001460871

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

rs_777825824

6 SubmittersRCV000671214 RCV001348026 RCV004742564

NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)

SNV
Germline

Chr16:89749806

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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
Condition: not provided
Fanconi anemia
FANCA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_372254398

12 SubmittersRCV000671284 RCV003478396 RCV000803258 RCV004742565

NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)

SNV
Germline

Chr16:89767208

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1448463647

4 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

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

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

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

rs_200291237

4 SubmittersRCV000665582 RCV001041382

NM_000135.4(FANCA):c.1470+1G>A

SNV
Unknown

Chr16:89784853

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

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

rs_1438828232

4 SubmittersRCV000667535 RCV001868216

NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)

SNV
Germline

Chr16:89791459

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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
Multiple Submitters
No Conflicts

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
Condition: not provided
Fanconi anemia
FANCA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1291524243

9 SubmittersRCV000668057 RCV001092317 RCV000813603 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

rs_1555573118

3 SubmittersRCV000674412 RCV001861842

NM_000135.4(FANCA):c.190-1G>T

SNV
Germline

Chr16:89814614

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_765277254

3 SubmittersRCV000664959 RCV001855434

NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)

SNV
Germline

Chr16:89815903

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555580427

2 SubmittersRCV000665360 RCV001387347

NM_018062.4(FANCL):c.692-2A>G

SNV
Germline

Chr2:58163519

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_144729980

2 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

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

rs_943009372

5 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

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

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

rs_761291501

7 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

rs_1563986439

3 SubmittersRCV000692482 RCV001194955

NM_004629.2(FANCG):c.652C>T (p.Gln218Ter)

SNV
Germline

Chr9:35077096

Pathogenic

Fanconi anemia
Fanconi anemia complementation group G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1209807088

4 SubmittersRCV000699360 RCV001194951 RCV002060878

NM_020937.4(FANCM):c.1237T>C (p.Tyr413His)

SNV
Germline

Chr14:45154750

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

rs_138225703

9 SubmittersRCV000688866 RCV000763928 RCV001535656 RCV001771942 RCV002256466 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
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

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

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

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

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
Inborn genetic diseases
FANCA-related disorder
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

rs_144171225

5 SubmittersRCV000692969 RCV004972864 RCV003392528 RCV002477566

NM_000135.4(FANCA):c.3408+1G>C

SNV
Germline

Chr16:89746830

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1567601557

1 SubmittersRCV000695127

NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter)

SNV
Germline

Chr9:35074489

Pathogenic

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

rs_779834525

5 SubmittersRCV000696742 RCV002259362 RCV001194971

NM_058216.3(RAD51C):c.571+2T>A

SNV
Germline

Chr17:58696861

Likely pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

rs_1567789009

1 SubmittersRCV000701329

NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)

SNV
Germline

Chr17:61686136

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

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
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

rs_1567221497

4 SubmittersRCV000693232 RCV001181141 RCV002493183

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

rs_371875379

5 SubmittersRCV000694173 RCV000774648 RCV003153807 RCV002477574

NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val)

SNV
Germline

Chr16:23621438

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

Criteria Provided
Conflicting Classifications

rs_1567212950

4 SubmittersRCV001030369 RCV000695855 RCV003362904 RCV002507213

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

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
Fanconi anemia complementation group A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200022826

5 SubmittersRCV000699108 RCV001276512 RCV001816722 RCV003148833

NM_058216.3(RAD51C):c.952G>A (p.Asp318Asn)

SNV
Germline

Chr17:58724087

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_876659875

4 SubmittersRCV000686884 RCV002369832 RCV002268249 RCV004822167

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

rs_1567731308

3 SubmittersRCV000706890 RCV002440548 RCV004569395

NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter)

SNV
Germline

Chr17:61801454

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1436085018

2 SubmittersRCV000701553 RCV003336153

NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter)

SNV
Germline

Chr17:58692674

Pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

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

rs_756313788

3 SubmittersRCV000692471 RCV001020526 RCV003325213

NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter)

SNV
Germline

Chr17:61799278

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1304655615

2 SubmittersRCV000690639 RCV003336139

NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter)

SNV
Germline

Chr17:61847214

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1567878012

3 SubmittersRCV000697304 RCV004788134

NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)

SNV
Germline

Chr16:89740080

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146975341

5 SubmittersRCV000703875 RCV001274520 RCV002534419 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

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

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

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

rs_1567785872

4 SubmittersRCV000690554 RCV000785445 RCV002422492 RCV004025057

NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser)

SNV
Germline

Chr17:61683415

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1567727439

4 SubmittersRCV000696975 RCV000776820 RCV003478427

NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly)

SNV
Germline

ChrX:14843805

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group B
Condition: not provided
VACTERL association, X-linked, with or without hydrocephalus
not specified

Criteria Provided
Conflicting Classifications

rs_140363445

5 SubmittersRCV000694135 RCV001167743 RCV001756194 RCV001169616 RCV001816713

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

rs_1035139114

5 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
Fanconi anemia
Hereditary cancer

Criteria Provided
Conflicting Classifications

rs_759900071

5 SubmittersRCV000709084 RCV001017185 RCV001825407 RCV003492140

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

rs_1567799943

3 SubmittersRCV000772310 RCV000989963

NM_032043.3(BRIP1):c.1014A>G (p.Glu338=)

SNV
Germline

Chr17:61801379

Conflicting classifications of pathogenicity

Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

rs_1490732516

3 SubmittersRCV000990021 RCV002067002

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

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

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

rs_1156577591

3 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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_200628199

4 SubmittersRCV000722754 RCV002533067 RCV003411662

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

rs_1390620949

3 SubmittersRCV000723238 RCV001868923 RCV003465654

NM_032043.3(BRIP1):c.2492+1G>C

SNV
Germline

Chr17:61715950

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

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

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

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

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

rs_769862233

4 SubmittersRCV000761273 RCV001043409

NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter)

SNV
Germline

Chr13:32339808

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1566232471

4 SubmittersRCV001024132 RCV000761285 RCV003768291 RCV003478452

NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro)

SNV
Germline

Chr16:89773306

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_1567621042

2 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

rs_1313006784

2 SubmittersRCV000761971 RCV001386218

NM_000059.4(BRCA2):c.5604C>T (p.Asp1868=)

SNV
Germline

Chr13:32339959

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1401654517

4 SubmittersRCV001113819 RCV001113820 RCV000774480 RCV001464209

NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu)

SNV
Germline

Chr16:23629818

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

rs_764509489

4 SubmittersRCV000819396 RCV002507340 RCV000773204

NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile)

SNV
Germline

Chr16:23630157

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

rs_1567218311

4 SubmittersRCV001869122 RCV002477779 RCV000777409

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

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

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

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
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1567728557

5 SubmittersRCV000777508 RCV004569484 RCV001340324

NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter)

SNV
Germline

Chr17:61780974

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_777217004

4 SubmittersRCV000771280 RCV001869076 RCV003336175

NM_032043.3(BRIP1):c.1546G>A (p.Val516Ile)

SNV
Germline

Chr17:61784352

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1567816972

4 SubmittersRCV001348473 RCV000777057 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

rs_1555602159

4 SubmittersRCV000777004 RCV001873162 RCV004027301

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

Criteria Provided
Conflicting Classifications

rs_1567794083

2 SubmittersRCV000773768 RCV002534096

NM_032043.3(BRIP1):c.2380-1G>A

SNV
Germline

Chr17:61716064

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

rs_1567756032

4 SubmittersRCV000772817 RCV000815797 RCV003336176

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

SNV
Germline

Chr17:58709857

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
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

rs_587780259

6 SubmittersRCV001063152 RCV000777161 RCV001195023 RCV002501009 RCV004027303

NM_032043.3(BRIP1):c.379+1G>A

SNV
Germline

Chr17:61857057

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_1555618360

3 SubmittersRCV000772601 RCV001054796 RCV004760771

NM_000136.3(FANCC):c.3G>A (p.Met1Ile)

SNV
Germline

Chr9:95249289

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1368374192

4 SubmittersRCV000779587 RCV001869147 RCV002352294 RCV002307613

NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)

SNV
Germline

Chr15:89294967

Pathogenic/Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_748000458

5 SubmittersRCV000778449 RCV002536730 RCV004588239

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

rs_140404896

3 SubmittersRCV000778450 RCV001239482

NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter)

SNV
Germline

Chr16:3583254

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_1291935778

2 SubmittersRCV000779185 RCV001856168

NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter)

SNV
Germline

Chr16:3591054

Conflicting classifications of pathogenicity

Fanconi anemia complementation group P
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_200715208

2 SubmittersRCV000778907 RCV003768435

NM_058216.3(RAD51C):c.572-3C>G

SNV
Germline

Chr17:58703193

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1567794089

5 SubmittersRCV000823568 RCV002343641 RCV000781792 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

rs_1555590286

6 SubmittersRCV000780048 RCV001569647 RCV002442600 RCV002536861

NM_000135.4(FANCA):c.2778+1G>A

SNV
Germline

Chr16:89764889

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_140180549

10 SubmittersRCV002269312 RCV000786986 RCV000811488

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

rs_374328858

5 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

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

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

rs_1588047887

4 SubmittersRCV000808242 RCV001274613 RCV002381787

NM_020937.4(FANCM):c.1142C>A (p.Ser381Ter)

SNV
Germline

Chr14:45154011

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_765686151

1 SubmittersRCV000807702

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

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

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

rs_772477865

3 SubmittersRCV000794413 RCV002501045 RCV004619414

NM_020937.4(FANCM):c.4601C>A (p.Ser1534Ter)

SNV
Germline

Chr14:45185302

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Spermatogenic failure 28
Premature ovarian failure 15
Hereditary cancer

Criteria Provided
Conflicting Classifications

rs_201017015

8 SubmittersRCV000809180 RCV001664428 RCV002259022 RCV001816879 RCV002495113 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

rs_146436929

5 SubmittersRCV000818486 RCV001731943 RCV002507433 RCV003492178

NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu)

SNV
Germline

Chr16:13935719

Conflicting classifications of pathogenicity

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Ovarian cancer

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2020959

3 SubmittersRCV000822020 RCV001194781

NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly)

SNV
Germline

Chr16:13948019

Conflicting classifications of pathogenicity

Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Ovarian cancer
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_746576915

3 SubmittersRCV000812059 RCV003153852 RCV003353046

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

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 complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_755375493

3 SubmittersRCV001274551 RCV000814285

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

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

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

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
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_188695241

6 SubmittersRCV000792471 RCV001276515 RCV001816841 RCV003478489

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

rs_761725308

3 SubmittersRCV000813088 RCV001256264

NM_000135.4(FANCA):c.2248G>A (p.Val750Met)

SNV
Germline

Chr16:89770234

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_747723074

3 SubmittersRCV000807024 RCV003478510

NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)

SNV
Germline

Chr16:89771749

Conflicting classifications of pathogenicity

Fanconi anemia
Ovarian cancer
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201589909

6 SubmittersRCV000801692 RCV003153842 RCV001271603 RCV003334022

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

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

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

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

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

rs_1598184500

2 SubmittersRCV000803115

NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)

SNV
Germline

Chr16:89814545

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

rs_1452688134

4 SubmittersRCV000799851 RCV001256218

NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)

SNV
Germline

Chr16:89814603

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200698961

4 SubmittersRCV000791641 RCV001274662 RCV001759486

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

rs_151089298

4 SubmittersRCV000803891 RCV001276569 RCV004972973

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

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

Criteria Provided
Conflicting Classifications

rs_762761380

2 SubmittersRCV000822638 RCV004029111

NM_058216.3(RAD51C):c.571G>A (p.Glu191Lys)

SNV
Germline

Chr17:58696859

Likely pathogenic

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_730881932

5 SubmittersRCV000824156 RCV001585767 RCV002372361 RCV004569786

NM_032043.3(BRIP1):c.3686T>C (p.Ile1229Thr)

SNV
Germline

Chr17:61683360

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

rs_1034551306

3 SubmittersRCV000797364 RCV001187109

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

rs_1603276837

3 SubmittersRCV000795930 RCV001188268

NM_032043.3(BRIP1):c.2121T>G (p.Arg707=)

SNV
Germline

Chr17:61744568

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1481107855

3 SubmittersRCV000815556 RCV001525410

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

rs_1603328780

3 SubmittersRCV000807659 RCV002422772 RCV003336202

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

rs_1603336897

2 SubmittersRCV000816751 RCV003336216

NM_032043.3(BRIP1):c.1534G>T (p.Glu512Ter)

SNV
Germline

Chr17:61784364

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

rs_1603342316

4 SubmittersRCV000816776 RCV001010215 RCV000985635 RCV001194729

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

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

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

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

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

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

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

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

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

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

rs_786202941

1 SubmittersRCV000821425

NM_032043.3(BRIP1):c.1936-1G>C

SNV
Germline

Chr17:61776563

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

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
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_766516963

3 SubmittersRCV000816078 RCV003380748 RCV003336214

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

rs_1230207719

2 SubmittersRCV000811635 RCV004569675

NM_032043.3(BRIP1):c.2493-2A>G

SNV
Germline

Chr17:61693514

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603280621

3 SubmittersRCV000795616 RCV003336190

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

rs_1219435870

1 SubmittersRCV000796323

NM_032043.3(BRIP1):c.93+2T>C

SNV
Germline

Chr17:61861445

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

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

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

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

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

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

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
Condition: not provided
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

rs_141824395

4 SubmittersRCV000861189 RCV001146891 RCV003884745 RCV004754582

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

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

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

rs_201037656

4 SubmittersRCV000861177 RCV001115983 RCV003396495

NM_005236.3(ERCC4):c.503C>T (p.Ala168Val)

SNV
Germline

Chr16:13926675

Conflicting classifications of pathogenicity

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2020961

3 SubmittersRCV000862022 RCV001292967 RCV002536230

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_760906091

3 SubmittersRCV001421512 RCV002363257 RCV003322833

NM_022725.4(FANCF):c.412C>A (p.Arg138Ser)

SNV
Germline

Chr11:22625399

Conflicting classifications of pathogenicity

Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

rs_565372884

3 SubmittersRCV000870754 RCV001817000

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

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

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

rs_905295349

2 SubmittersRCV000867142 RCV003478536

NM_020937.4(FANCM):c.2163T>G (p.Ala721=)

SNV
Germline

Chr14:45173057

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781479852

2 SubmittersRCV003523029 RCV004822249

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

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

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

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

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

rs_370775954

3 SubmittersRCV001119630 RCV001443455 RCV003938278

NM_032444.4(SLX4):c.1511C>G (p.Pro504Arg)

SNV
Germline

Chr16:3597551

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_569591337

2 SubmittersRCV001816993 RCV001509602

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

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

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

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

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

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
Inborn genetic diseases
VACTERL association, X-linked, with or without hydrocephalus
Fanconi anemia complementation group B
FANCB-related disorder

Criteria Provided
Conflicting Classifications

rs_142304943

5 SubmittersRCV000868818 RCV002409068 RCV002495286 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

rs_200208121

4 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

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

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_745666586

3 SubmittersRCV000874197 RCV001118713

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

rs_113051956

3 SubmittersRCV000872155 RCV001817018 RCV003930394

NM_032043.3(BRIP1):c.2906-7T>C

SNV
Germline

Chr17:61684147

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1237575383

5 SubmittersRCV000875557 RCV001190780 RCV001799003 RCV004792564

NM_032043.3(BRIP1):c.508-8G>A

SNV
Germline

Chr17:61847228

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_202074040

4 SubmittersRCV000886371 RCV001712753 RCV002469314 RCV004789249

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

rs_373971974

3 SubmittersRCV000925963 RCV003332271 RCV004973173

NM_022725.4(FANCF):c.618G>C (p.Ala206=)

SNV
Germline

Chr11:22625193

Conflicting classifications of pathogenicity

Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

rs_1056134185

2 SubmittersRCV001500147 RCV001818909

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

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
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1177043110

3 SubmittersRCV001429685 RCV004528323 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
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1603275662

4 SubmittersRCV000938033 RCV001459592 RCV004029666 RCV004789267

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

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

Criteria Provided
Conflicting Classifications

rs_1598459949

5 SubmittersRCV000929068 RCV001185507 RCV001505424 RCV003226408

NM_032043.3(BRIP1):c.1936-7A>T

SNV
Germline

Chr17:61776569

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1427111542

3 SubmittersRCV000937471 RCV001731983 RCV004789264

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

Criteria Provided
Conflicting Classifications

rs_1598456274

3 SubmittersRCV001427927 RCV002454229 RCV004997547

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

rs_1008150951

5 SubmittersRCV000979926 RCV001078735 RCV001189285 RCV004792595

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

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 complementation group D2
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_372534421

3 SubmittersRCV000987094 RCV001146800 RCV001858660

NM_021922.3(FANCE):c.248+2T>C

SNV
Unknown

Chr6:35452795

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

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

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
Spermatogenic failure 28
Premature ovarian failure 15
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

rs_771311008

4 SubmittersRCV001057419 RCV002489459 RCV003148902 RCV003492195

NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)

SNV
Germline

Chr14:45183852

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_183784665

5 SubmittersRCV001772179 RCV000989211 RCV001242413

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

rs_1596520443

3 SubmittersRCV000989494 RCV002307648 RCV002550612

NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro)

SNV
Germline

Chr16:89738943

Likely pathogenic

Condition: not provided
Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_149851163

3 SubmittersRCV001256421 RCV000989668 RCV001858712

NM_000135.4(FANCA):c.275C>G (p.Ser92Ter)

SNV
Unknown

Chr16:89814528

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

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

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

Criteria Provided
Conflicting Classifications

rs_769359514

4 SubmittersRCV000989976 RCV001210225 RCV001732008 RCV002454235

NM_032043.3(BRIP1):c.2906-1G>A

SNV
Germline

Chr17:61684141

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_773639563

5 SubmittersRCV000989987 RCV001858716 RCV001182221 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

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

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

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

rs_1588101086

1 SubmittersRCV001004549

NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)

SNV
Germline

Chr9:95149936

Pathogenic

Fanconi anemia complementation group C
Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_374176091

4 SubmittersRCV001004550 RCV001216645 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

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

rs_1375711161

3 SubmittersRCV001011488 RCV001827177

NM_000136.3(FANCC):c.1351G>A (p.Gly451Ser)

SNV
Germline

Chr9:95107248

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_141805918

2 SubmittersRCV001011080 RCV001218028

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

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

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

rs_771319430

3 SubmittersRCV001025993 RCV001832362 RCV002260675

NM_000136.3(FANCC):c.534G>C (p.Glu178Asp)

SNV
Germline

Chr9:95150075

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_776694218

3 SubmittersRCV001023964 RCV001345569

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

rs_1064793405

4 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

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
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1588353394

3 SubmittersRCV001011120 RCV001410043 RCV003478609

NM_000059.4(BRCA2):c.942A>G (p.Lys314=)

SNV
Germline

Chr13:32332420

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

rs_1384322636

4 SubmittersRCV001019336 RCV002549502 RCV001109311 RCV001114950

NM_000059.4(BRCA2):c.1220A>G (p.Gln407Arg)

SNV
Germline

Chr13:32332698

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1593892264

6 SubmittersRCV001010386 RCV001860635 RCV004789317 RCV002466600

NM_024675.4(PALB2):c.833T>A (p.Leu278Gln)

SNV
Germline

Chr16:23635713

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

rs_200843485

3 SubmittersRCV001017584 RCV002497340

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

rs_1555461809

5 SubmittersRCV001021365 RCV001030148 RCV001119842 RCV001861018

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_1598455555

4 SubmittersRCV001014553 RCV003461340 RCV001205684

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

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

rs_779053608

2 SubmittersRCV001015443 RCV001860792

NM_058216.3(RAD51C):c.821A>G (p.Asn274Ser)

SNV
Germline

Chr17:58709974

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

rs_1598484851

2 SubmittersRCV001027294 RCV002552424

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

rs_1196057129

2 SubmittersRCV001021008 RCV002549531

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

rs_1034545913

2 SubmittersRCV001019716 RCV001873320

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

rs_1567728809

2 SubmittersRCV001019117 RCV001063963

NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter)

SNV
Germline

Chr17:61683972

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

Criteria Provided
Conflicting Classifications

rs_1603276698

5 SubmittersRCV001016603 RCV001488657 RCV002305558 RCV004789338

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

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

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

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

rs_749251680

5 SubmittersRCV001017258 RCV001194725 RCV001217022 RCV004596389

NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)

SNV
Germline

Chr17:61808706

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_45459799

6 SubmittersRCV001025658 RCV001194704 RCV001210339 RCV002271613 RCV003160184 RCV004030873

NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)

SNV
Germline

Chr17:61808721

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603346983

3 SubmittersRCV001025497 RCV001381445 RCV002236282

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

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
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603367649

4 SubmittersRCV001013464 RCV001574232 RCV003769458 RCV003336239

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

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

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

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

rs_1368457771

2 SubmittersRCV001013114 RCV002551764

NM_032043.3(BRIP1):c.1794+1G>A

SNV
Germline

Chr17:61780839

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

rs_766516963

4 SubmittersRCV001013194 RCV001228430 RCV003336238

NM_032043.3(BRIP1):c.1474-2A>G

SNV
Germline

Chr17:61784426

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

rs_1603337052

3 SubmittersRCV001011737 RCV001235018 RCV003336232

NM_032043.3(BRIP1):c.508-1G>T

SNV
Germline

Chr17:61847221

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

rs_864622277

4 SubmittersRCV001023506 RCV002497344 RCV003336261

NM_032043.3(BRIP1):c.379+5T>A

SNV
Germline

Chr17:61857053

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1603366174

2 SubmittersRCV001021150 RCV002549534

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

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

rs_756487177

1 SubmittersRCV001044015

NM_018062.4(FANCL):c.2T>G (p.Met1Arg)

SNV
Germline

Chr2:58241312

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

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

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

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

rs_752274299

2 SubmittersRCV001061237 RCV002339300

NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)

SNV
Germline

Chr9:95125124

Pathogenic/Likely pathogenic

Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

rs_1825775052

3 SubmittersRCV001045963 RCV002379526 RCV003462534

NM_000136.3(FANCC):c.847C>T (p.Gln283Ter)

SNV
Germline

Chr9:95126578

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1564667865

1 SubmittersRCV001037048

NM_000136.3(FANCC):c.451A>T (p.Lys151Ter)

SNV
Germline

Chr9:95172042

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1825714345

1 SubmittersRCV001035894

NM_000136.3(FANCC):c.353T>G (p.Leu118Ter)

SNV
Germline

Chr9:95172140

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1825725461

1 SubmittersRCV001054113

NM_000136.3(FANCC):c.139A>T (p.Lys47Ter)

SNV
Germline

Chr9:95249153

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1831172189

1 SubmittersRCV001063564

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

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

rs_773014744

2 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

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

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

rs_1888718087

1 SubmittersRCV001048639

NM_020937.4(FANCM):c.5647C>T (p.Gln1883Ter)

SNV
Germline

Chr14:45196478

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1379375089

1 SubmittersRCV001041845

NM_032444.4(SLX4):c.4618G>A (p.Glu1540Lys)

SNV
Germline

Chr16:3589020

Conflicting classifications of pathogenicity

Olaparib response
Fanconi anemia
Fanconi anemia complementation group P

Criteria Provided
Conflicting Classifications

rs_769950582

3 SubmittersRCV003483767 RCV001053846 RCV004720291

NM_032444.4(SLX4):c.3955C>T (p.Gln1319Ter)

SNV
Germline

Chr16:3589683

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2040556390

1 SubmittersRCV001037473

NM_032444.4(SLX4):c.3019C>A (p.Gln1007Lys)

SNV
Germline

Chr16:3590619

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_138798067

3 SubmittersRCV001194838 RCV003238277 RCV001038907

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

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

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

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

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

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

rs_2039078843

4 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

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

Criteria Provided
Conflicting Classifications

rs_147300317

3 SubmittersRCV001070981 RCV003478690

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

rs_562319781

2 SubmittersRCV001051230 RCV002497402

NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)

SNV
Germline

Chr16:89778963

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_201212806

5 SubmittersRCV001120470 RCV001053106

NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter)

SNV
Germline

Chr16:89784891

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1432415523

1 SubmittersRCV001071452

NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter)

SNV
Germline

Chr16:89791444

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2040073991

1 SubmittersRCV001037568

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

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

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

rs_755018069

3 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

Criteria Provided
Conflicting Classifications

rs_764121307

3 SubmittersRCV001035133 RCV002481848

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

rs_774054025

3 SubmittersRCV001046595 RCV004973284

NM_000135.4(FANCA):c.664G>T (p.Glu222Ter)

SNV
Germline

Chr16:89805325

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2040599267

1 SubmittersRCV001044309

NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)

SNV
Germline

Chr16:89810792

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

rs_141367100

6 SubmittersRCV001050638 RCV002479313 RCV001331009

NM_000135.4(FANCA):c.418G>T (p.Glu140Ter)

SNV
Germline

Chr16:89810937

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2040853528

1 SubmittersRCV001044967

NM_000135.4(FANCA):c.207T>A (p.Cys69Ter)

SNV
Germline

Chr16:89814596

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_941660593

1 SubmittersRCV001057513

NM_000135.4(FANCA):c.91A>T (p.Lys31Ter)

SNV
Germline

Chr16:89815975

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_776297241

2 SubmittersRCV001062373 RCV002555811

NM_058216.3(RAD51C):c.204T>A (p.Cys68Ter)

SNV
Germline

Chr17:58694989

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567785888

2 SubmittersRCV001043378 RCV003455176

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

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
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_145387081

3 SubmittersRCV001042595 RCV002298854 RCV002427512

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

rs_1603275438

2 SubmittersRCV001069273 RCV003142024

NM_032043.3(BRIP1):c.3089C>T (p.Ala1030Val)

SNV
Germline

Chr17:61683957

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_767255426

2 SubmittersRCV002320343 RCV001068006

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

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

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
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555609257

3 SubmittersRCV001044683 RCV003307838 RCV003336286

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

rs_2078971612

3 SubmittersRCV001036465 RCV003336278 RCV004030985

NM_004629.2(FANCG):c.924+1G>A

SNV
Germline

Chr9:35076723

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1829091761

1 SubmittersRCV001060677

NM_001113378.2(FANCI):c.3538-2A>T

SNV
Germline

Chr15:89307474

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_915983602

4 SubmittersRCV001071454 RCV001256425

NM_000135.4(FANCA):c.3935-1G>A

SNV
Germline

Chr16:89739554

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1555533693

2 SubmittersRCV001036272

NM_000135.4(FANCA):c.3626+1G>C

SNV
Germline

Chr16:89744958

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_34885858

1 SubmittersRCV001057714

NM_000135.4(FANCA):c.793-1G>C

SNV
Germline

Chr16:89799639

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1567642367

1 SubmittersRCV001036122

NM_000136.3(FANCC):c.1533+1G>T

SNV
Germline

Chr9:95107065

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group C

Criteria Provided
Conflicting Classifications

rs_753885687

4 SubmittersRCV001063719 RCV002402446 RCV001585965

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

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
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1437158047

3 SubmittersRCV001066581 RCV004720752 RCV002355086

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

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

rs_2038478071

1 SubmittersRCV001051366

NM_000135.4(FANCA):c.710-5T>C

SNV
Germline

Chr16:89803346

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

rs_2040523640

2 SubmittersRCV001256223 RCV001052274

NM_020937.4(FANCM):c.682-2A>G

SNV
Germline

Chr14:45140630

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

rs_1567737536

3 SubmittersRCV001067981 RCV002429727 RCV003336304

NM_032043.3(BRIP1):c.1628+1G>C

SNV
Germline

Chr17:61784269

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

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

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

rs_2039603867

1 SubmittersRCV001068973

NM_000135.4(FANCA):c.79+1G>A

SNV
Germline

Chr16:89816536

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1483028018

1 SubmittersRCV001053503

NM_058216.3(RAD51C):c.966-1G>C

SNV
Germline

Chr17:58732483

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_876658272

4 SubmittersRCV001055703 RCV001328346 RCV002379568 RCV003478682

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

rs_2077532634

4 SubmittersRCV001038016 RCV002249640 RCV003155964 RCV003307812

NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln)

SNV
Germline

Chr3:10065429

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
not specified

Criteria Provided
Conflicting Classifications

rs_755975980

3 SubmittersRCV001092963 RCV001325183 RCV002265942

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

rs_200416138

2 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
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1036870835

4 SubmittersRCV001111445 RCV001111446 RCV001425606 RCV002511042 RCV002259082

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

Criteria Provided
Conflicting Classifications

rs_768605944

2 SubmittersRCV001113541 RCV001114948 RCV003158428

NM_000059.4(BRCA2):c.1224G>A (p.Met408Ile)

SNV
Germline

Chr13:32332702

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1593892275

3 SubmittersRCV003158427 RCV001112105 RCV001112106

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

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

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

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

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

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

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
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

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
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Conflicting Classifications

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

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
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1966403904

4 SubmittersRCV001121622 RCV001201577 RCV001526131

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

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

rs_1596514559

2 SubmittersRCV001116647 RCV002069882

NM_032444.4(SLX4):c.3153A>G (p.Thr1051=)

SNV
Germline

Chr16:3590485

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1484366381

3 SubmittersRCV002556475 RCV001116864 RCV002069887

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

rs_748856769

5 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

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

Criteria Provided
Conflicting Classifications

rs_2062057880

2 SubmittersRCV001118441 RCV002556516

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

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
Condition: not provided
Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_765106818

4 SubmittersRCV001115381 RCV003478700 RCV001442079 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

Criteria Provided
Conflicting Classifications

rs_146062039

3 SubmittersRCV001118523 RCV001506640

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

rs_772828870

5 SubmittersRCV001118525 RCV001240295 RCV004978029

NM_001113378.2(FANCI):c.1890+10A>G

SNV
Germline

Chr15:89290291

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Conflicting Classifications

rs_201954421

2 SubmittersRCV002069897 RCV001117439

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

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

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
Cockayne syndrome
Fanconi anemia complementation group Q
Condition: not provided

Criteria Provided
Conflicting Classifications

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_796652647

4 SubmittersRCV001151039 RCV003155362 RCV001724256

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

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

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

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

rs_1217203217

3 SubmittersRCV001169043 RCV001429099 RCV004978082

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

Criteria Provided
Conflicting Classifications

rs_762238437

3 SubmittersRCV001169048 RCV001456880 RCV003425976

NM_004629.2(FANCG):c.292C>A (p.Arg98=)

SNV
Germline

Chr9:35078620

Conflicting classifications of pathogenicity

Fanconi anemia complementation group G
Condition: not provided
Inborn genetic diseases
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_532525154

4 SubmittersRCV001166628 RCV004809028 RCV004978076 RCV002558631

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

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

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

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
Inborn genetic diseases
Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142289802

5 SubmittersRCV001165702 RCV001165703 RCV002558612 RCV001511171 RCV003438696

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

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

rs_1317100453

2 SubmittersRCV001167293 RCV001167292 RCV001466611

NM_004629.2(FANCG):c.1434-6C>T

SNV
Germline

Chr9:35075331

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Conflicting Classifications

rs_1404150675

2 SubmittersRCV001430903 RCV001168313

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

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

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

rs_1895530875

2 SubmittersRCV001172541 RCV001194791

NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter)

SNV
Germline

Chr17:58696697

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2048021234

5 SubmittersRCV001188165 RCV001862971 RCV004033379

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

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

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

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
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

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

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

Criteria Provided
Conflicting Classifications

rs_1567812484

3 SubmittersRCV001179676 RCV001875945

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

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

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

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

rs_1567812766

2 SubmittersRCV001187416 RCV003117825

NM_032043.3(BRIP1):c.1628+7G>A

SNV
Germline

Chr17:61784263

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

rs_2077666975

4 SubmittersRCV001186808 RCV001495850 RCV004587064 RCV004789444

NM_032043.3(BRIP1):c.1474-14G>A

SNV
Germline

Chr17:61784438

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2077673537

2 SubmittersRCV001188187 RCV002559146

NM_032043.3(BRIP1):c.1795-12G>A

SNV
Germline

Chr17:61780413

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

rs_762289143

3 SubmittersRCV001177571 RCV002068197 RCV004789416

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

Criteria Provided
Conflicting Classifications

rs_776255327

4 SubmittersRCV001194201 RCV001473865 RCV001525934

NM_032043.3(BRIP1):c.508-10G>C

SNV
Germline

Chr17:61847230

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2078749443

3 SubmittersRCV001193531 RCV004789462 RCV002559223

NM_032043.3(BRIP1):c.3661C>G (p.Leu1221Val)

SNV
Germline

Chr17:61683385

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2061353270

4 SubmittersRCV001194732 RCV001863070 RCV002436768

NM_032043.3(BRIP1):c.765G>T (p.Gln255His)

SNV
Germline

Chr17:61808620

Pathogenic

Fanconi anemia complementation group J

No Assertion Criteria Provided

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

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

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

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

rs_1480350743

4 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

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

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

rs_2040679706

1 SubmittersRCV001194849

NM_001018115.3(FANCD2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr3:10028659

Pathogenic

Fanconi anemia complementation group D2

No Assertion Criteria Provided

rs_2086516483

1 SubmittersRCV001194913

NM_001018115.3(FANCD2):c.206-2A>T

SNV
Germline

Chr3:10034467

Pathogenic

Fanconi anemia complementation group D2

No Assertion Criteria Provided

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

rs_764507146

4 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

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
Single Submitter

rs_2086862509

2 SubmittersRCV001194904 RCV004526811

NM_001018115.3(FANCD2):c.696-2A>T

SNV
Germline

Chr3:10041621

Pathogenic

Fanconi anemia complementation group D2

No Assertion Criteria Provided

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

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

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

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

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

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

rs_2087653225

2 SubmittersRCV001194920

NM_001018115.3(FANCD2):c.1948-6C>A

SNV
Germline

Chr3:10064350

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D2
Condition: not provided
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_779350241

4 SubmittersRCV001194921 RCV001531561 RCV002282477

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

rs_1374735618

2 SubmittersRCV001194922 RCV003523079

NM_001018115.3(FANCD2):c.3706C>A (p.Arg1236Ser)

SNV
Germline

Chr3:10090314

Pathogenic

Fanconi anemia complementation group D2

No Assertion Criteria Provided

rs_771078251

1 SubmittersRCV001194931

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

rs_757499508

4 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

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

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

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

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

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

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

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

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

rs_1829065047

2 SubmittersRCV001194963 RCV001863077

NM_004629.2(FANCG):c.1144-1G>C

SNV
Germline

Chr9:35075755

Pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

rs_755363896

2 SubmittersRCV001194959

NM_004629.2(FANCG):c.1143+5G>A

SNV
Germline

Chr9:35075957

Pathogenic

Fanconi anemia complementation group G

No Assertion Criteria Provided

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

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

rs_1028569753

3 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

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

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

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

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

rs_927868500

3 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

rs_776122485

3 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

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

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

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

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

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

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
Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

rs_1432325198

4 SubmittersRCV001194996 RCV003523081 RCV002484061

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

rs_551399966

4 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

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

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
Single Submitter

rs_1294973649

2 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

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

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

rs_757106031

1 SubmittersRCV001194984

NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)

SNV
Germline

Chr15:89315360

Pathogenic/Likely pathogenic

Fanconi anemia complementation group I
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_551305056

5 SubmittersRCV001194987 RCV001382026 RCV003222250

NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)

SNV
Germline

Chr16:89742900

Conflicting classifications of pathogenicity

Premature ovarian failure
Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

rs_374537936

5 SubmittersRCV001270236 RCV001246139 RCV001751356 RCV001824931

NM_000136.3(FANCC):c.1494T>G (p.Ala498=)

SNV
Germline

Chr9:95107105

Pathogenic

Fanconi anemia complementation group C

No Assertion Criteria Provided

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

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
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554829575

6 SubmittersRCV001195056 RCV001859174 RCV004619545 RCV003238842

NM_000136.3(FANCC):c.996G>A (p.Gln332=)

SNV
Germline

Chr9:95125086

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

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

rs_577063114

7 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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760235677

6 SubmittersRCV001199931 RCV001378839 RCV003163505 RCV003163504 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

rs_2054196709

2 SubmittersRCV001200104 RCV003635947

NM_000059.4(BRCA2):c.3816G>C (p.Met1272Ile)

SNV
Germline

Chr13:32338171

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

rs_1469541725

3 SubmittersRCV001535557 RCV003158527 RCV001220912

NM_020937.4(FANCM):c.679C>T (p.Gln227Ter)

SNV
Germline

Chr14:45137239

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1209536013

1 SubmittersRCV001220858

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

rs_145527531

3 SubmittersRCV001219517 RCV002491684 RCV004671269

NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter)

SNV
Germline

Chr16:89745031

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_771195871

2 SubmittersRCV001216649 RCV004978123

NM_032043.3(BRIP1):c.1878A>C (p.Glu626Asp)

SNV
Germline

Chr17:61780318

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1567812484

2 SubmittersRCV001217442 RCV002411805

NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter)

SNV
Germline

Chr17:61861474

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

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

rs_1689679880

1 SubmittersRCV001202568

NM_018062.4(FANCL):c.3G>A (p.Met1Ile)

SNV
Germline

Chr2:58241311

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1197938479

5 SubmittersRCV001206075 RCV001819893 RCV001732071 RCV002402596

NM_000136.3(FANCC):c.323C>G (p.Ser108Ter)

SNV
Germline

Chr9:95240671

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

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

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

rs_2039076227

1 SubmittersRCV001204408

NM_000135.4(FANCA):c.2662G>A (p.Val888Ile)

SNV
Germline

Chr16:89765006

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_774863156

5 SubmittersRCV001204506 RCV002480666 RCV003478731 RCV004978097

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

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

rs_769479800

2 SubmittersRCV001202859 RCV001256436

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

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

rs_1330937621

2 SubmittersRCV001207027 RCV002348676

NM_032043.3(BRIP1):c.3427G>A (p.Asp1143Asn)

SNV
Germline

Chr17:61683619

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1217932471

2 SubmittersRCV004950340 RCV001210482

NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu)

SNV
Germline

Chr17:61685874

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_761639530

5 SubmittersRCV001206417 RCV001819895 RCV002436795 RCV003442769

NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter)

SNV
Germline

Chr17:61801408

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Gastric cancer

Criteria Provided
Single Submitter

rs_2077991700

2 SubmittersRCV001205614 RCV003163558

NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter)

SNV
Germline

Chr17:61859840

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

rs_2078949879

3 SubmittersRCV001204419 RCV004796371 RCV002402586

NM_001018113.3(FANCB):c.458T>A (p.Ile153Asn)

SNV
Germline

ChrX:14865053

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_749099779

2 SubmittersRCV001212847 RCV002561798

NM_001018115.3(FANCD2):c.1413+2T>C

SNV
Germline

Chr3:10048053

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1459222478

1 SubmittersRCV001210618

NM_020937.4(FANCM):c.4780-2A>G

SNV
Germline

Chr14:45188800

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1889569618

1 SubmittersRCV001209303

NM_005236.3(ERCC4):c.793-2A>G

SNV
Germline

Chr16:13930708

Pathogenic

Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Single Submitter

rs_2032155264

1 SubmittersRCV001212995

NM_000135.4(FANCA):c.3627-1G>C

SNV
Germline

Chr16:89742939

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2062172440

1 SubmittersRCV001213212

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

SNV
Germline

Chr17:61686166

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_587782539

4 SubmittersRCV003336332 RCV001205350 RCV001785795

NM_032444.4(SLX4):c.1164-9G>A

SNV
Germline

Chr16:3598008

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

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

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

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

rs_781216924

1 SubmittersRCV001222540

NM_058216.3(RAD51C):c.405-2A>G

SNV
Germline

Chr17:58696691

Likely pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

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

rs_2077029293

1 SubmittersRCV001224744

NM_001018115.3(FANCD2):c.3541C>T (p.Gln1181Ter)

SNV
Germline

Chr3:10088523

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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
Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_550462055

4 SubmittersRCV001237810 RCV001356399 RCV001278783 RCV002393604

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

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

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

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

rs_2061310712

3 SubmittersRCV001227649 RCV002322099

NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter)

SNV
Germline

Chr17:61744460

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_769081927

2 SubmittersRCV001234612 RCV002411870

NM_032043.3(BRIP1):c.894C>T (p.Cys298=)

SNV
Germline

Chr17:61808491

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

rs_2078107086

3 SubmittersRCV001233442 RCV004951392 RCV004789488

NM_032043.3(BRIP1):c.393A>C (p.Lys131Asn)

SNV
Germline

Chr17:61849243

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

rs_750212705

4 SubmittersRCV001242335 RCV001835125 RCV003153956

NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)

SNV
Germline

Chr9:35076532

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group G
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_754484649

5 SubmittersRCV001241021 RCV002484321 RCV002466647

NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg)

SNV
Germline

Chr9:95111482

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_912537449

5 SubmittersRCV001246013 RCV001586088 RCV002379941 RCV002484373

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

rs_1011870043

3 SubmittersRCV001240097 RCV002258173 RCV001838462

NM_032444.4(SLX4):c.4156C>T (p.Gln1386Ter)

SNV
Germline

Chr16:3589482

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1374549534

1 SubmittersRCV001239888

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

rs_374984587

5 SubmittersRCV001245328 RCV001578976 RCV004998769

NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)

SNV
Germline

Chr16:89745029

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_748713183

6 SubmittersRCV003230651 RCV004692312 RCV001244123 RCV002480822

NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)

SNV
Germline

Chr16:89767187

Pathogenic

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_761469030

4 SubmittersRCV001246892 RCV001780186 RCV003117864

NM_000135.4(FANCA):c.2009G>A (p.Arg670His)

SNV
Germline

Chr16:89773276

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
FANCA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_537923341

5 SubmittersRCV001239057 RCV001330799 RCV004743347 RCV004978182

NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)

SNV
Germline

Chr16:89773321

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1306842168

5 SubmittersRCV001243575 RCV002480819 RCV003478751 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

rs_555519520

3 SubmittersRCV001243722 RCV002504349

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

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

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

rs_2061476512

3 SubmittersRCV001243419 RCV002430034 RCV003478750

NM_020937.4(FANCM):c.1051-2A>T

SNV
Germline

Chr14:45153918

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

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

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

rs_776827467

2 SubmittersRCV001237762 RCV003469445

NM_000135.4(FANCA):c.1084-1G>A

SNV
Germline

Chr16:89792069

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_2038409874

2 SubmittersRCV001239097 RCV001780176

NM_000135.4(FANCA):c.2504+6C>G

SNV
Germline

Chr16:89769831

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified

Criteria Provided
Conflicting Classifications

rs_749556479

4 SubmittersRCV001246492 RCV002499424 RCV004998770

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

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

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

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

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

rs_199599393

3 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

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

rs_1456500627

1 SubmittersRCV001256308

NM_000135.4(FANCA):c.4010+2T>C

SNV
Germline

Chr16:89739476

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2062067746

4 SubmittersRCV001256304 RCV002250738 RCV003523083

NM_000135.4(FANCA):c.4010+1G>A

SNV
Germline

Chr16:89739477

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

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

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

rs_2062069547

1 SubmittersRCV001256629

NM_000135.4(FANCA):c.3934+1G>A

SNV
Germline

Chr16:89739993

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

rs_2062087795

2 SubmittersRCV001256627 RCV003635954

NM_000135.4(FANCA):c.3829-1G>C

SNV
Germline

Chr16:89740100

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

rs_2062090760

1 SubmittersRCV001256526

NM_000135.4(FANCA):c.3828+1G>T

SNV
Germline

Chr16:89740803

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_1432988639

2 SubmittersRCV001256524

NM_000135.4(FANCA):c.3786C>G (p.Phe1262Leu)

SNV
Germline

Chr16:89740846

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

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
Single Submitter

rs_1219402916

2 SubmittersRCV001256519 RCV003635950

NM_000135.4(FANCA):c.3765+1G>T

SNV
Germline

Chr16:89742799

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

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

rs_375700263

1 SubmittersRCV001256516

NM_000135.4(FANCA):c.3746T>C (p.Leu1249Pro)

SNV
Germline

Chr16:89742819

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

rs_753316789

1 SubmittersRCV001256413

NM_000135.4(FANCA):c.3627-1G>A

SNV
Germline

Chr16:89742939

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_2062172440

2 SubmittersRCV001256408

NM_000135.4(FANCA):c.3611G>C (p.Arg1204Pro)

SNV
Germline

Chr16:89744974

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

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

rs_2062210802

2 SubmittersRCV001256404 RCV003523087

NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter)

SNV
Germline

Chr16:89745030

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

rs_1185165443

2 SubmittersRCV001256297 RCV002568708

NM_000135.4(FANCA):c.3513G>A (p.Leu1171=)

SNV
Germline

Chr16:89746584

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

rs_2038398296

1 SubmittersRCV001256295

NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu)

SNV
Germline

Chr16:89746606

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

rs_2038399117

2 SubmittersRCV001256294 RCV002570433

NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)

SNV
Germline

Chr16:89746607

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_545772434

4 SubmittersRCV001256293 RCV001879789

NM_000135.4(FANCA):c.3386A>T (p.Asp1129Val)

SNV
Germline

Chr16:89746853

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

rs_2038408351

1 SubmittersRCV001256286

NM_000135.4(FANCA):c.3350G>C (p.Arg1117Thr)

SNV
Germline

Chr16:89746889

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

rs_2038409656

1 SubmittersRCV001256619

NM_000135.4(FANCA):c.3348+5G>A

SNV
Germline

Chr16:89748654

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

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

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

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

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

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

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

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

rs_1429943036

4 SubmittersRCV001256511 RCV001879795 RCV003405458

NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly)

SNV
Germline

Chr16:89749806

Likely pathogenic

Condition: not provided
Fanconi anemia

Criteria Provided
Single Submitter

rs_753063086

2 SubmittersRCV001256510 RCV001879794

NM_000135.4(FANCA):c.3130C>T (p.Gln1044Ter)

SNV
Germline

Chr16:89749839

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

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

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

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

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

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

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

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

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

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

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

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

rs_2039075542

1 SubmittersRCV001256598

NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter)

SNV
Germline

Chr16:89764960

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

rs_1354272260

2 SubmittersRCV001256597 RCV001879801

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

rs_2039077331

2 SubmittersRCV001256596 RCV002570438

NM_000135.4(FANCA):c.2636C>T (p.Ala879Val)

SNV
Germline

Chr16:89765032

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

rs_375919830

1 SubmittersRCV001256502

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

rs_1017086086

3 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

rs_747823528

2 SubmittersRCV001256494 RCV001389974

NM_000135.4(FANCA):c.2602-2A>C

SNV
Germline

Chr16:89765068

Pathogenic/Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555545592

3 SubmittersRCV001256493 RCV002570436

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

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

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

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

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

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

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

rs_2039275333

1 SubmittersRCV001256266

NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp)

SNV
Germline

Chr16:89770192

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_751572448

3 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

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

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

rs_2039278966

1 SubmittersRCV001256591

NM_000135.4(FANCA):c.2189T>C (p.Leu730Pro)

SNV
Germline

Chr16:89770597

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

rs_2039289431

1 SubmittersRCV001256589

NM_000135.4(FANCA):c.2170A>C (p.Thr724Pro)

SNV
Germline

Chr16:89770616

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

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

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

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

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

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

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

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

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

rs_2039773398

1 SubmittersRCV001256575

NM_000135.4(FANCA):c.1471-1G>T

SNV
Germline

Chr16:89783103

Pathogenic

Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_2039777078

2 SubmittersRCV001256474 RCV003462829

NM_000135.4(FANCA):c.1470+1G>T

SNV
Germline

Chr16:89784853

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

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

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

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

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

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

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

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

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

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

rs_753728435

4 SubmittersRCV001256351 RCV003523086

NM_000135.4(FANCA):c.793-2A>C

SNV
Germline

Chr16:89799640

Pathogenic

Fanconi anemia complementation group A

No Assertion Criteria Provided

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

rs_2040520107

1 SubmittersRCV001256230

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

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

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

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

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

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

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

rs_947111024

1 SubmittersRCV001256442

NM_000135.4(FANCA):c.427-2A>G

SNV
Germline

Chr16:89810804

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

rs_765684774

2 SubmittersRCV001256440 RCV001879791

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

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

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

rs_765277254

2 SubmittersRCV001256212

NM_000135.4(FANCA):c.189+2T>A

SNV
Germline

Chr16:89815875

Likely pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Single Submitter

rs_2041094594

2 SubmittersRCV001256542 RCV001879797

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

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

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

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

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

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

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

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

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

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

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

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

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

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

rs_2038398856

3 SubmittersRCV001263707 RCV003635956

NM_000135.4(FANCA):c.3133G>T (p.Glu1045Ter)

SNV
Unknown

Chr16:89749836

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_2038519770

1 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

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

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

rs_2039260856

3 SubmittersRCV001263791

NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter)

SNV
Unknown

Chr16:89769852

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

rs_772477788

1 SubmittersRCV001263792

NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter)

SNV
Unknown

Chr16:89769869

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

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

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

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

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

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

rs_2041102320

4 SubmittersRCV001264296 RCV001880078

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

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

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

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

rs_199652831

5 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

rs_1247378731

1 SubmittersRCV001292921

NM_032444.4(SLX4):c.4585C>T (p.Gln1529Ter)

SNV
Unknown

Chr16:3589053

Likely pathogenic

Fanconi anemia complementation group P

Criteria Provided
Single Submitter

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

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

Criteria Provided
Conflicting Classifications

rs_746871581

3 SubmittersRCV001297712 RCV001760341

NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)

SNV
Germline

Chr16:13935323

Conflicting classifications of pathogenicity

Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_780488548

2 SubmittersRCV001300359 RCV003153976

NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)

SNV
Germline

Chr16:13935734

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_138532294

3 SubmittersRCV001294384 RCV001819982 RCV002258183

NM_000135.4(FANCA):c.2982-8C>G

SNV
Germline

Chr16:89752230

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_781331325

3 SubmittersRCV001820000 RCV001307466

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

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_140785340

6 SubmittersRCV001300117 RCV001819989 RCV002476391 RCV004998801 RCV004978266

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

rs_747184077

2 SubmittersRCV001304314 RCV003393965

NM_000135.4(FANCA):c.19C>T (p.Pro7Ser)

SNV
Germline

Chr16:89816597

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_780667753

3 SubmittersRCV002504460 RCV001304743

NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter)

SNV
Germline

Chr17:61861532

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1603368491

2 SubmittersRCV001306224 RCV003316838

NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu)

SNV
Germline

ChrX:14864711

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group B
VACTERL association, X-linked, with or without hydrocephalus
FANCB-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_374217132

4 SubmittersRCV001301818 RCV002486161 RCV003898292 RCV004978271

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

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

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_1431945795

2 SubmittersRCV001325306 RCV003478783

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

rs_189723011

4 SubmittersRCV001318978 RCV001760393 RCV004034951

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

rs_776297241

4 SubmittersRCV001327579 RCV002504516 RCV004035243

NM_032043.3(BRIP1):c.2948T>C (p.Ile983Thr)

SNV
Germline

Chr17:61684098

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_587781417

3 SubmittersRCV001322142 RCV001525964

NM_032043.3(BRIP1):c.325A>G (p.Asn109Asp)

SNV
Germline

Chr17:61857112

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2078907245

3 SubmittersRCV001313761 RCV003478771 RCV004601448

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

rs_1359408831

2 SubmittersRCV001332840

NM_032444.4(SLX4):c.1129C>T (p.Gln377Ter)

SNV
Germline

Chr16:3601013

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

rs_891323617

2 SubmittersRCV001330798 RCV001376795

NM_032444.4(SLX4):c.4283G>A (p.Trp1428Ter)

SNV
Germline

Chr16:3589355

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1028935047

1 SubmittersRCV002588415

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

rs_757051494

2 SubmittersRCV001337606

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

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

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

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

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

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

rs_762060755

4 SubmittersRCV001348951 RCV001773696 RCV002341730

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

rs_1361161166

2 SubmittersRCV001342709 RCV004036004

NM_032043.3(BRIP1):c.3196T>C (p.Ser1066Pro)

SNV
Germline

Chr17:61683850

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

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

rs_2077994124

3 SubmittersRCV001343393 RCV002447412 RCV004793444

NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln)

SNV
Germline

ChrX:14853139

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group B
VACTERL association, X-linked, with or without hydrocephalus
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_753030842

3 SubmittersRCV001352034 RCV002476617 RCV004809572

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

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

rs_1462766132

2 SubmittersRCV001370136 RCV003120585

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

Criteria Provided
Conflicting Classifications

rs_757128699

3 SubmittersRCV001369987 RCV003298605 RCV004746352

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

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

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

rs_1441752228

2 SubmittersRCV001365131

NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala)

SNV
Germline

Chr16:89771704

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
FANCA-related disorder

Criteria Provided
Conflicting Classifications

rs_746373917

4 SubmittersRCV002499756 RCV001369132 RCV003405615

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

Criteria Provided
Conflicting Classifications

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

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

rs_1555593541

4 SubmittersRCV001362756 RCV001806148 RCV003469599

NM_032043.3(BRIP1):c.1329T>C (p.Cys443=)

SNV
Germline

Chr17:61799111

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

rs_2145299845

3 SubmittersRCV001366389 RCV002384525 RCV004789550

NM_032043.3(BRIP1):c.1237G>C (p.Val413Leu)

SNV
Germline

Chr17:61799203

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2145305445

2 SubmittersRCV001367939 RCV004951625

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

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

rs_2040074214

4 SubmittersRCV001376747 RCV001726536

NM_018062.4(FANCL):c.472-1G>C

SNV
Germline

Chr2:58198663

Likely pathogenic

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group L

Criteria Provided
Multiple Submitters
No Conflicts

rs_768814501

4 SubmittersRCV001377977 RCV001838514 RCV003462954

NM_001018115.3(FANCD2):c.2494+2T>C

SNV
Germline

Chr3:10067319

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

rs_779552164

3 SubmittersRCV001378519 RCV002221627

NM_021922.3(FANCE):c.1113+1G>A

SNV
Germline

Chr6:35458441

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

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

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

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

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

rs_2053066295

1 SubmittersRCV001377100

NM_005236.3(ERCC4):c.1102+1G>T

SNV
Germline

Chr16:13932286

Likely pathogenic

Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Xeroderma pigmentosum

Criteria Provided
Multiple Submitters
No Conflicts

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

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

Criteria Provided
Conflicting Classifications

rs_2143109078

2 SubmittersRCV001379113 RCV003442878

NM_000135.4(FANCA):c.3067-2A>G

SNV
Germline

Chr16:89749904

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2143140176

1 SubmittersRCV001377023

NM_000135.4(FANCA):c.2779-1G>T

SNV
Germline

Chr16:89762023

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2143261385

1 SubmittersRCV001376768

NM_000135.4(FANCA):c.2015-2A>C

SNV
Germline

Chr16:89771816

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2143351760

1 SubmittersRCV001379771

NM_000135.4(FANCA):c.1627-2A>G

SNV
Germline

Chr16:89779959

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_1316078638

1 SubmittersRCV001378190

NM_000135.4(FANCA):c.596+1G>C

SNV
Germline

Chr16:89808293

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2143656696

1 SubmittersRCV001379921

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

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

rs_995056553

1 SubmittersRCV001376837

NM_032043.3(BRIP1):c.508-2A>C

SNV
Germline

Chr17:61847222

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

rs_876659707

1 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

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

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

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

rs_1419879344

2 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

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

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

rs_752690798

3 SubmittersRCV001387796

NM_004629.2(FANCG):c.1216C>T (p.Gln406Ter)

SNV
Germline

Chr9:35075682

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_748730134

1 SubmittersRCV001389380

NM_004629.2(FANCG):c.1144-1G>T

SNV
Germline

Chr9:35075755

Pathogenic

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

rs_755363896

3 SubmittersRCV001385294 RCV001826166

NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter)

SNV
Germline

Chr9:35076475

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2131055360

1 SubmittersRCV001388483

NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)

SNV
Germline

Chr9:35076861

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Conflicting Classifications

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

rs_2131058553

1 SubmittersRCV001382663

NM_000136.3(FANCC):c.1181G>A (p.Trp394Ter)

SNV
Germline

Chr9:95111611

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2134551203

1 SubmittersRCV001389515

NM_020937.4(FANCM):c.1492C>T (p.Gln498Ter)

SNV
Germline

Chr14:45159191

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2139186499

1 SubmittersRCV001385342

NM_020937.4(FANCM):c.2255C>G (p.Ser752Ter)

SNV
Germline

Chr14:45173149

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1888447684

1 SubmittersRCV001384745

NM_020937.4(FANCM):c.3523C>T (p.Gln1175Ter)

SNV
Germline

Chr14:45176277

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

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

rs_1594481199

2 SubmittersRCV001387500 RCV002272467

NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)

SNV
Germline

Chr16:13920187

Pathogenic

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome

Criteria Provided
Single Submitter

rs_774510191

1 SubmittersRCV001389442

NM_032444.4(SLX4):c.4798C>T (p.Gln1600Ter)

SNV
Germline

Chr16:3583452

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_143026968

1 SubmittersRCV001385184

NM_000135.4(FANCA):c.4011-1G>C

SNV
Germline

Chr16:89739290

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_761988162

1 SubmittersRCV001380733

NM_000135.4(FANCA):c.3239+1G>A

SNV
Germline

Chr16:89749729

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

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

rs_1487360770

2 SubmittersRCV001382301

NM_000135.4(FANCA):c.2299C>T (p.Gln767Ter)

SNV
Germline

Chr16:89770183

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_769718381

2 SubmittersRCV001383443 RCV003462991

NM_000135.4(FANCA):c.792+1G>A

SNV
Germline

Chr16:89803258

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2143615250

1 SubmittersRCV001388440

NM_000135.4(FANCA):c.731T>A (p.Leu244Ter)

SNV
Germline

Chr16:89803320

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_863224802

4 SubmittersRCV001389332 RCV002290705 RCV003169951

NM_032043.3(BRIP1):c.2716G>T (p.Glu906Ter)

SNV
Germline

Chr17:61686025

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

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
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057517643

3 SubmittersRCV001386561 RCV003336402 RCV002420862

NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter)

SNV
Germline

Chr17:61780925

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

rs_2077609103

1 SubmittersRCV001386910

NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter)

SNV
Germline

Chr17:61780935

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

rs_2145094630

1 SubmittersRCV001381718

NM_032043.3(BRIP1):c.254C>G (p.Ser85Ter)

SNV
Germline

Chr17:61857183

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

rs_587781830

1 SubmittersRCV001387221

NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter)

SNV
Germline

Chr17:61857186

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2145830278

2 SubmittersRCV001381413 RCV002456597

NM_001018115.3(FANCD2):c.1338A>C (p.Leu446=)

SNV
Germline

Chr3:10047976

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
FANCD2-related disorder

Criteria Provided
Conflicting Classifications

rs_752268889

3 SubmittersRCV001410751 RCV001820106 RCV003963300

NM_004629.2(FANCG):c.1473A>G (p.Lys491=)

SNV
Germline

Chr9:35075286

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Conflicting Classifications

rs_769921972

2 SubmittersRCV001391819 RCV003145656

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

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

Criteria Provided
Conflicting Classifications

rs_1885485132

2 SubmittersRCV001400155 RCV003478815

NM_000135.4(FANCA):c.2778+83C>T

SNV
Germline

Chr16:89764807

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

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

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

rs_201529791

3 SubmittersRCV001779203 RCV001859338

NM_058216.3(RAD51C):c.705+1G>T

SNV
Germline

Chr17:58703330

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_876658644

2 SubmittersRCV001779206 RCV002554101

NM_058216.3(RAD51C):c.706-1G>A

SNV
Germline

Chr17:58709858

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555599090

3 SubmittersRCV001779207 RCV001859339 RCV002298949

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

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

rs_191128410

3 SubmittersRCV001428615 RCV001569964

NM_005236.3(ERCC4):c.537A>G (p.Glu179=)

SNV
Germline

Chr16:13926709

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

Criteria Provided
Conflicting Classifications

rs_1423399664

2 SubmittersRCV001429801 RCV001820124

NM_000135.4(FANCA):c.3409-9C>G

SNV
Germline

Chr16:89746697

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
FANCA-related disorder

Criteria Provided
Conflicting Classifications

rs_368943794

4 SubmittersRCV001429127 RCV002261363 RCV003946126

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

rs_770043372

2 SubmittersRCV001447493 RCV001509532

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

rs_201216865

3 SubmittersRCV001453283 RCV002282552

NM_000135.4(FANCA):c.3639T>C (p.Pro1213=)

SNV
Germline

Chr16:89742926

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_1567598479

2 SubmittersRCV001472526

NM_000135.4(FANCA):c.2151+7G>A

SNV
Germline

Chr16:89771671

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2039330078

3 SubmittersRCV001455479 RCV002501596 RCV003478841

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

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

rs_1295402252

2 SubmittersRCV001457874 RCV005001222

NM_000135.4(FANCA):c.283+9T>C

SNV
Germline

Chr16:89814511

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
FANCA-related disorder

Criteria Provided
Conflicting Classifications

rs_779593295

3 SubmittersRCV001462986 RCV001800996 RCV003920981

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

rs_2061326120

3 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

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

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

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

Criteria Provided
Conflicting Classifications

rs_535316621

2 SubmittersRCV001479460 RCV004998921

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_775506986

4 SubmittersRCV001481793 RCV004809636

NM_032043.3(BRIP1):c.2538T>C (p.Asp846=)

SNV
Germline

Chr17:61693467

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

rs_2144186341

4 SubmittersRCV001482164 RCV002432351 RCV004998925 RCV004789617

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

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

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

Criteria Provided
Conflicting Classifications

rs_377406711

2 SubmittersRCV001509535 RCV002070287

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

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

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

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

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

rs_2145761239

4 SubmittersRCV001554254 RCV002334598 RCV002568350 RCV003474007

NM_005236.3(ERCC4):c.616C>T (p.Gln206Ter)

SNV
Germline

Chr16:13928059

Likely pathogenic

Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

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

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
Spermatogenic failure 28
Premature ovarian failure 15
Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_371629950

4 SubmittersRCV001569845 RCV002476871 RCV002570774 RCV004039361

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

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

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

rs_1829085768

1 SubmittersRCV001580703

NM_000135.4(FANCA):c.1344T>G (p.Tyr448Ter)

SNV
Germline

Chr16:89791418

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

rs_2131053817

1 SubmittersRCV001615383

NM_004629.2(FANCG):c.1468G>T (p.Glu490Ter)

SNV
Germline

Chr9:35075291

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_1461242610

2 SubmittersRCV001615385

NM_004629.2(FANCG):c.1501C>T (p.Gln501Ter)

SNV
Germline

Chr9:35075062

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2131053086

1 SubmittersRCV001615386

NM_001113378.2(FANCI):c.3907G>T (p.Glu1303Ter)

SNV
Germline

Chr15:89315372

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_544848412

1 SubmittersRCV001615389

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

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

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

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

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
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

rs_369022159

5 SubmittersRCV001727234 RCV002032693 RCV003464125

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 complementation group C
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_950623649

4 SubmittersRCV001732365 RCV002343807 RCV002488492 RCV002539805

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

rs_757116652

4 SubmittersRCV001757901 RCV003584977 RCV003507385

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

Criteria Provided
Conflicting Classifications

rs_143585647

4 SubmittersRCV001761472 RCV002074016 RCV003892830

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

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

rs_970724368

3 SubmittersRCV001771437 RCV003635968 RCV004738375

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

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

rs_371822998

2 SubmittersRCV002540705 RCV003238410

NM_018062.4(FANCL):c.641T>C (p.Leu214Pro)

SNV
Germline

Chr2:58165774

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group L

Criteria Provided
Conflicting Classifications

rs_766618785

2 SubmittersRCV003238622 RCV003388043

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

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

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
Fanconi anemia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142079276

4 SubmittersRCV001761861 RCV001868792 RCV002540733 RCV003237510

NM_000135.4(FANCA):c.1827-2A>G

SNV
Germline

Chr16:89775817

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Multiple Submitters
No Conflicts

rs_2143393518

4 SubmittersRCV002544206 RCV003237526 RCV003325232

NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter)

SNV
Germline

Chr17:61744507

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

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

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

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

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

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

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

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

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

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

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

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

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

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

rs_587780817

2 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

rs_2040540029

1 SubmittersRCV001784993

NM_000136.3(FANCC):c.2T>C (p.Met1Thr)

SNV
Germline

Chr9:95249290

Likely pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

rs_2136102345

1 SubmittersRCV001781081

NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter)

SNV
Germline

Chr3:10039292

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2086805219

2 SubmittersRCV001781082

NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)

SNV
Germline

Chr3:10092220

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D2
Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_745930696

5 SubmittersRCV001781086 RCV001885181 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

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

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

rs_776329920

2 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

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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2137509604

2 SubmittersRCV001806374 RCV002541449

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

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

rs_1422723344

2 SubmittersRCV001817379 RCV002541992

NM_032444.4(SLX4):c.1569T>C (p.Pro523=)

SNV
Germline

Chr16:3597493

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_2151131241

2 SubmittersRCV001817423 RCV002074284

NM_000135.4(FANCA):c.596+12A>G

SNV
Germline

Chr16:89808282

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

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

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

rs_2151913000

2 SubmittersRCV001819345 RCV002542561

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

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

rs_1448880215

2 SubmittersRCV001820356 RCV001869718

NM_005236.3(ERCC4):c.576G>C (p.Leu192=)

SNV
Germline

Chr16:13926748

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_376302719

5 SubmittersRCV001820474 RCV002489878 RCV002542628 RCV003394276 RCV004998963

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

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

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

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

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

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

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

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

rs_2125072527

2 SubmittersRCV001817744 RCV002545180

NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)

SNV
Germline

Chr16:13926751

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_753325454

3 SubmittersRCV001869789 RCV001817844 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

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

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

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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_748274524

2 SubmittersRCV002024150 RCV002469450

NM_032043.3(BRIP1):c.2258-1G>T

SNV
Germline

Chr17:61743135

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1064793887

3 SubmittersRCV002028035 RCV003336503 RCV004596508

NM_001113378.2(FANCI):c.1293+1G>A

SNV
Germline

Chr15:89276892

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_2124961184

3 SubmittersRCV002048995 RCV002486780

NM_032043.3(BRIP1):c.3289G>T (p.Glu1097Ter)

SNV
Germline

Chr17:61683757

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

rs_770509300

1 SubmittersRCV002014985

NM_018062.4(FANCL):c.295C>T (p.Gln99Ter)

SNV
Germline

Chr2:58222021

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1196510455

1 SubmittersRCV001919910

NM_001018115.3(FANCD2):c.1825C>T (p.Gln609Ter)

SNV
Germline

Chr3:10062209

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1247410343

1 SubmittersRCV002004937

NM_000135.4(FANCA):c.426+2T>A

SNV
Germline

Chr16:89810927

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1598190568

1 SubmittersRCV001974185

NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter)

SNV
Germline

Chr15:89263426

Pathogenic/Likely pathogenic

Fanconi anemia
FANCI-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_771312042

2 SubmittersRCV001912597 RCV003401850

NM_004629.2(FANCG):c.1481-1G>C

SNV
Germline

Chr9:35075083

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

rs_747994845

1 SubmittersRCV001945161

NM_000136.3(FANCC):c.1330-2A>C

SNV
Germline

Chr9:95107271

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2134456820

1 SubmittersRCV002050320

NM_032444.4(SLX4):c.4837G>T (p.Glu1613Ter)

SNV
Germline

Chr16:3583413

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_761469284

2 SubmittersRCV001945050 RCV003232463

NM_000135.4(FANCA):c.2317-1G>A

SNV
Germline

Chr16:89770025

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1230207719

1 SubmittersRCV002032199

NM_000135.4(FANCA):c.3672G>A (p.Trp1224Ter)

SNV
Germline

Chr16:89742893

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2143062233

1 SubmittersRCV001939405

NM_000136.3(FANCC):c.1490G>A (p.Trp497Ter)

SNV
Germline

Chr9:95107109

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_762501862

1 SubmittersRCV001941835

NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter)

SNV
Germline

Chr17:61744463

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

rs_2144696024

1 SubmittersRCV001888718

NM_000136.3(FANCC):c.849A>G (p.Gln283=)

SNV
Germline

Chr9:95126576

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2134968632

2 SubmittersRCV002015253 RCV002443019

NM_020937.4(FANCM):c.759+2T>C

SNV
Germline

Chr14:45140711

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

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

rs_776471397

1 SubmittersRCV001875644

NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter)

SNV
Germline

Chr17:61801315

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_2135587402

1 SubmittersRCV002019542

NM_004629.2(FANCG):c.1007C>A (p.Ser336Ter)

SNV
Germline

Chr9:35076501

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_1417768931

2 SubmittersRCV001889270 RCV004571540

NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys)

SNV
Germline

Chr16:89770216

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

rs_556748657

3 SubmittersRCV001948275 RCV002266062 RCV002507601

NM_022725.4(FANCF):c.3G>A (p.Met1Ile)

SNV
Germline

Chr11:22625808

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2133798927

1 SubmittersRCV001970176

NM_004629.2(FANCG):c.76C>T (p.Gln26Ter)

SNV
Germline

Chr9:35079449

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

rs_748856769

2 SubmittersRCV001985509 RCV004999565

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

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

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

rs_759186986

1 SubmittersRCV002012901

NM_032043.3(BRIP1):c.2812G>T (p.Glu938Ter)

SNV
Germline

Chr17:61685929

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

rs_199643061

1 SubmittersRCV001949273

NM_000135.4(FANCA):c.626G>A (p.Trp209Ter)

SNV
Germline

Chr16:89805363

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_772652088

2 SubmittersRCV002008462 RCV002492247

NM_032043.3(BRIP1):c.1326C>A (p.Cys442Ter)

SNV
Germline

Chr17:61799114

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

rs_2145300052

1 SubmittersRCV001891098

NM_004629.2(FANCG):c.1585C>T (p.Gln529Ter)

SNV
Germline

Chr9:35074978

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1157985962

1 SubmittersRCV001951931

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

rs_1280130060

4 SubmittersRCV001943582 RCV003464242 RCV004720977

NM_000136.3(FANCC):c.816C>G (p.Ile272Met)

SNV
Germline

Chr9:95135373

Conflicting classifications of pathogenicity

Fanconi anemia
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_55719336

4 SubmittersRCV001996931 RCV002246613 RCV002423124

NM_001018113.3(FANCB):c.1327-1G>A

SNV
Germline

ChrX:14850675

Conflicting classifications of pathogenicity

Fanconi anemia
Glioma susceptibility 1

Criteria Provided
Conflicting Classifications

rs_1295003944

2 SubmittersRCV002007855 RCV004555895

NM_000136.3(FANCC):c.1529C>A (p.Thr510Asn)

SNV
Germline

Chr9:95107070

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1233501553

4 SubmittersRCV002022619 RCV002282681 RCV002398090 RCV003154056

NM_001113378.2(FANCI):c.1391C>A (p.Ser464Ter)

SNV
Germline

Chr15:89281179

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

rs_144332316

3 SubmittersRCV002033449 RCV002497969 RCV004045215

NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter)

SNV
Germline

Chr17:58724050

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2143961567

3 SubmittersRCV001905455 RCV003164159 RCV004039889

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

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
Fanconi anemia complementation group P

Criteria Provided
Multiple Submitters
No Conflicts

rs_1267428175

2 SubmittersRCV001962073 RCV002482537

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

rs_2147445599

2 SubmittersRCV001927558 RCV004555628

NM_000135.4(FANCA):c.3935-2A>T

SNV
Germline

Chr16:89739555

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

rs_369834971

2 SubmittersRCV001884870 RCV004975797

NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter)

SNV
Germline

Chr16:13935183

Pathogenic

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome

Criteria Provided
Single Submitter

rs_762738968

1 SubmittersRCV001919468

NM_000135.4(FANCA):c.2505-1G>C

SNV
Germline

Chr16:89767238

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1438990537

1 SubmittersRCV002028818

NM_000135.4(FANCA):c.1070C>G (p.Ser357Ter)

SNV
Germline

Chr16:89792484

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

Criteria Provided
Conflicting Classifications

rs_375630115

2 SubmittersRCV001886345 RCV002272518

NM_000136.3(FANCC):c.1155-2A>G

SNV
Germline

Chr9:95111639

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1343170313

1 SubmittersRCV001977768

NM_004629.2(FANCG):c.176-1G>A

SNV
Germline

Chr9:35078737

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2131059176

1 SubmittersRCV002025750

NM_032043.3(BRIP1):c.310A>G (p.Thr104Ala)

SNV
Germline

Chr17:61857127

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

rs_1831179586

3 SubmittersRCV001993301 RCV004043989 RCV004571701

NM_000135.4(FANCA):c.1593C>A (p.Tyr531Ter)

SNV
Germline

Chr16:89782892

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

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

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

rs_775388912

2 SubmittersRCV002019041 RCV003464346

NM_032043.3(BRIP1):c.627+2T>A

SNV
Germline

Chr17:61847099

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2078745026

2 SubmittersRCV001974267 RCV004946971

NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter)

SNV
Germline

Chr16:13920223

Pathogenic

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome

Criteria Provided
Single Submitter

rs_1355878901

1 SubmittersRCV002037756

NM_000135.4(FANCA):c.2896G>T (p.Glu966Ter)

SNV
Germline

Chr16:89758662

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1192724266

1 SubmittersRCV001999997

NM_000135.4(FANCA):c.2551C>T (p.Gln851Ter)

SNV
Germline

Chr16:89767191

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1406289451

1 SubmittersRCV002037771

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

rs_199714316

2 SubmittersRCV001990085 RCV002484787

NM_032043.3(BRIP1):c.3070G>C (p.Gly1024Arg)

SNV
Germline

Chr17:61683976

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_147119272

3 SubmittersRCV002004830 RCV002442939 RCV004762273

NM_032043.3(BRIP1):c.597G>A (p.Leu199=)

SNV
Germline

Chr17:61847131

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2078746387

2 SubmittersRCV001870864 RCV004793553

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

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

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

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

rs_2145031089

1 SubmittersRCV002035497

NM_000136.3(FANCC):c.844-1G>T

SNV
Germline

Chr9:95126582

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_774209201

1 SubmittersRCV002040417

NM_018062.4(FANCL):c.904-1G>A

SNV
Germline

Chr2:58161639

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

rs_2041098068

1 SubmittersRCV001939493

NM_000135.4(FANCA):c.1353G>A (p.Trp451Ter)

SNV
Germline

Chr16:89791409

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

rs_2145825816

2 SubmittersRCV002012730 RCV003585185

NM_032043.3(BRIP1):c.2380-2A>C

SNV
Germline

Chr17:61716065

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

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

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

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

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

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

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

rs_1830580247

2 SubmittersRCV002000441 RCV002331563

NM_020937.4(FANCM):c.4271G>A (p.Arg1424Gln)

SNV
Germline

Chr14:45181478

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1393856350

3 SubmittersRCV001883127 RCV003238874 RCV004980841

NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter)

SNV
Germline

Chr16:89748734

Pathogenic/Likely pathogenic

Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1450151864

2 SubmittersRCV001953458

NM_001113378.2(FANCI):c.2804-1G>C

SNV
Germline

Chr15:89300299

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

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

rs_1223055462

3 SubmittersRCV001970196 RCV003464310

NM_004629.2(FANCG):c.604G>T (p.Gly202Ter)

SNV
Germline

Chr9:35077306

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1449918930

1 SubmittersRCV001946802

NM_000135.4(FANCA):c.4213C>T (p.Gln1405Ter)

SNV
Germline

Chr16:89738929

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

rs_2151551135

2 SubmittersRCV002016812

NM_000136.3(FANCC):c.896+2T>A

SNV
Germline

Chr9:95126527

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_863224441

1 SubmittersRCV002036364

NM_032043.3(BRIP1):c.1620A>G (p.Gln540=)

SNV
Germline

Chr17:61784278

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

rs_2145135063

3 SubmittersRCV001904087 RCV002388718 RCV004785345

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

rs_1364046604

3 SubmittersRCV001970490 RCV002272548 RCV003978448

NM_032444.4(SLX4):c.383G>A (p.Trp128Ter)

SNV
Germline

Chr16:3608582

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_1833331932

4 SubmittersRCV001970020 RCV003130638 RCV004044375

NM_032043.3(BRIP1):c.1674G>A (p.Trp558Ter)

SNV
Germline

Chr17:61780960

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_752800577

1 SubmittersRCV001970064

NM_000135.4(FANCA):c.1777-2A>G

SNV
Germline

Chr16:89778852

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2143422990

1 SubmittersRCV002025307

NM_000135.4(FANCA):c.522+2T>C

SNV
Germline

Chr16:89810705

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2143677013

1 SubmittersRCV002025367

NM_020937.4(FANCM):c.4673-2A>C

SNV
Germline

Chr14:45187779

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_748274524

2 SubmittersRCV002033098 RCV003336449

NM_021922.3(FANCE):c.742G>A (p.Ala248Thr)

SNV
Germline

Chr6:35456240

Conflicting classifications of pathogenicity

Fanconi anemia complementation group E
Ovarian cancer
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1330517530

3 SubmittersRCV001901370 RCV003154216 RCV002557563

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

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

rs_2139235421

1 SubmittersRCV002001234

NM_001018115.3(FANCD2):c.205+1G>A

SNV
Germline

Chr3:10032973

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_759732362

3 SubmittersRCV002018439 RCV002486709 RCV003227060

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

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

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

rs_2040110878

2 SubmittersRCV002000789 RCV003471230

NM_032043.3(BRIP1):c.1629-1G>C

SNV
Germline

Chr17:61781006

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

rs_1060501757

4 SubmittersRCV002026194 RCV003336499 RCV004603146

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

rs_138398760

6 SubmittersRCV001941486 RCV002484721 RCV002562821 RCV004591653

NM_032043.3(BRIP1):c.205+5G>A

SNV
Germline

Chr17:61859791

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

rs_2078948368

1 SubmittersRCV002019750

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

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
Condition: not provided
Spermatogenic failure 28
Premature ovarian failure 15

Criteria Provided
Conflicting Classifications

rs_759068569

5 SubmittersRCV001907574 RCV002548026 RCV003478885 RCV002503414

NM_058216.3(RAD51C):c.556A>T (p.Lys186Ter)

SNV
Germline

Chr17:58696844

Pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

rs_1363104728

1 SubmittersRCV001953507

NM_000136.3(FANCC):c.723C>A (p.Cys241Ter)

SNV
Germline

Chr9:95135466

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2135167716

1 SubmittersRCV001947035

NM_020937.4(FANCM):c.4386+1G>A

SNV
Germline

Chr14:45181706

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1889085249

1 SubmittersRCV002018194

NM_032444.4(SLX4):c.2161-2A>T

SNV
Germline

Chr16:3592867

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2151127331

1 SubmittersRCV002046815

NM_032043.3(BRIP1):c.2568T>A (p.Tyr856Ter)

SNV
Germline

Chr17:61693437

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

rs_370175724

1 SubmittersRCV001959201

NM_032444.4(SLX4):c.3724G>T (p.Glu1242Ter)

SNV
Germline

Chr16:3589914

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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
not specified
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

rs_2144046795

3 SubmittersRCV002008907 RCV003323970 RCV003464362

NM_001113378.2(FANCI):c.1113-1G>A

SNV
Germline

Chr15:89276710

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_760258217

4 SubmittersRCV001941231 RCV002507619 RCV003329423 RCV003375468

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

rs_1202473484

2 SubmittersRCV002006508 RCV003375526

NM_001018115.3(FANCD2):c.696-1G>A

SNV
Germline

Chr3:10041622

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_954555240

1 SubmittersRCV001883679

NM_000136.3(FANCC):c.250+1G>A

SNV
Germline

Chr9:95247431

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2136090597

1 SubmittersRCV001975645

NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter)

SNV
Germline

ChrX:14850564

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2147404831

1 SubmittersRCV001910916

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

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_563966600

3 SubmittersRCV002042033 RCV004998967 RCV004980761

NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter)

SNV
Germline

Chr16:89752140

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_2143163267

1 SubmittersRCV002042193

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

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

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

rs_2047940709

1 SubmittersRCV001963273

NM_000135.4(FANCA):c.752C>G (p.Ser251Ter)

SNV
Germline

Chr16:89803299

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_878853666

1 SubmittersRCV001921935

NM_032043.3(BRIP1):c.2436T>A (p.Pro812=)

SNV
Germline

Chr17:61716007

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2061854737

2 SubmittersRCV001895487 RCV002259148

NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu)

SNV
Germline

Chr16:89771703

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

rs_148203537

4 SubmittersRCV001983248 RCV002305638 RCV002492141

NM_018062.4(FANCL):c.273+1G>C

SNV
Germline

Chr2:58226727

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group L

Criteria Provided
Conflicting Classifications

rs_144729980

3 SubmittersRCV002023826 RCV002498060

NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter)

SNV
Germline

Chr15:89273380

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group I

Criteria Provided
Multiple Submitters
No Conflicts

rs_754986558

2 SubmittersRCV001914007 RCV003471060

NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val)

SNV
Germline

Chr16:89739263

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201886956

5 SubmittersRCV001979879 RCV002507672 RCV003481210

NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter)

SNV
Germline

Chr2:58161609

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_1423411761

1 SubmittersRCV001983048

NM_032043.3(BRIP1):c.628-2A>G

SNV
Germline

Chr17:61808759

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_995056553

2 SubmittersRCV001983409 RCV003336494

NM_032043.3(BRIP1):c.1141-2A>T

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

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

rs_1354153410

1 SubmittersRCV001916493

NM_020937.4(FANCM):c.1397-1G>T

SNV
Germline

Chr14:45159095

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_2143932427

1 SubmittersRCV001957079

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

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

Criteria Provided
Conflicting Classifications

rs_778544563

3 SubmittersRCV001983460 RCV003478916 RCV004976092

NM_000135.4(FANCA):c.3514-1G>T

SNV
Germline

Chr16:89745072

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_1060501879

1 SubmittersRCV001980940

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
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2143726485

3 SubmittersRCV002196512 RCV003222399 RCV004948653

NM_000135.4(FANCA):c.4137A>G (p.Pro1379=)

SNV
Germline

Chr16:89739163

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1172262659

2 SubmittersRCV002093256 RCV004999638

NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser)

SNV
Germline

Chr16:89752196

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A

Criteria Provided
Conflicting Classifications

rs_757175768

2 SubmittersRCV002097701 RCV003154060

NM_020937.4(FANCM):c.4575T>C (p.Tyr1525=)

SNV
Germline

Chr14:45185276

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756538862

2 SubmittersRCV002131956 RCV002246688

NM_020937.4(FANCM):c.1310-13T>C

SNV
Germline

Chr14:45155360

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749995672

2 SubmittersRCV002170266 RCV003128794

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

rs_962460972

3 SubmittersRCV002137529 RCV004973319 RCV004999649

NM_001113378.2(FANCI):c.2292-6T>C

SNV
Germline

Chr15:89293827

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

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

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

rs_377269890

2 SubmittersRCV002199108

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

rs_370998253

2 SubmittersRCV002143588 RCV002261456

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

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

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

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

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

rs_746312984

2 SubmittersRCV002117319

NM_000135.4(FANCA):c.2602-8T>C

SNV
Germline

Chr16:89765074

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

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

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

rs_140872903

2 SubmittersRCV002090996

NM_001018115.3(FANCD2):c.3963+8C>T

SNV
Germline

Chr3:10094371

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_201623111

2 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

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

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

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

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

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

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

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

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

rs_769203048

1 SubmittersRCV002254010

NM_018062.4(FANCL):c.1A>G (p.Met1Val)

SNV
Germline

Chr2:58241313

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

rs_772037896

1 SubmittersRCV002256968

NM_022725.4(FANCF):c.1A>C (p.Met1Leu)

SNV
Germline

Chr11:22625810

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

rs_1046564488

1 SubmittersRCV002258415

NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)

SNV
Germline

Chr17:61793667

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2144384208

5 SubmittersRCV002257010 RCV003329439 RCV003336512 RCV004017912 RCV003774762

NM_032444.4(SLX4):c.2099G>A (p.Gly700Glu)

SNV
Germline

Chr16:3594514

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

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

rs_138189144

3 SubmittersRCV002258445 RCV003943329

NM_001018115.3(FANCD2):c.3285T>C (p.Ser1095=)

SNV
Germline

Chr3:10085872

Conflicting classifications of pathogenicity

Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_759252565

2 SubmittersRCV002255828

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

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

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

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

rs_2054667046

2 SubmittersRCV002257257

NM_000135.4(FANCA):c.1715+8G>A

SNV
Germline

Chr16:89779861

Conflicting classifications of pathogenicity

not specified
Fanconi anemia

Criteria Provided
Conflicting Classifications

rs_1209332039

2 SubmittersRCV002266234 RCV003096012

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

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

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

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

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

3 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

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

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

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

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

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

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

2 SubmittersRCV002297046 RCV003365730

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

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

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

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

3 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

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

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

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

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

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

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

1 SubmittersRCV002306898

NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter)

SNV
Unknown

Chr16:89791930

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV002310117

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

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

3 SubmittersRCV002321450 RCV003523129 RCV004591893

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

2 SubmittersRCV002459371 RCV003775651

NM_032043.3(BRIP1):c.395C>A (p.Thr132Asn)

SNV
Germline

Chr17:61849241

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002357659 RCV003094458

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

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

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

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

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

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

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

3 SubmittersRCV002376151 RCV003100056 RCV003314040

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

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002396963 RCV003095207

NM_032043.3(BRIP1):c.1629-4C>A

SNV
Germline

Chr17:61781009

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002401206 RCV003097031 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

2 SubmittersRCV002398690 RCV003100743

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

2 SubmittersRCV002423722 RCV003618019

NM_032043.3(BRIP1):c.2379+4G>A

SNV
Germline

Chr17:61743009

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

3 SubmittersRCV002457847 RCV003101773 RCV004790201

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

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

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

2 SubmittersRCV002443951 RCV003618034

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

2 SubmittersRCV002419623 RCV003507451

NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)

SNV
Germline

Chr17:61716000

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002455371 RCV003101824 RCV003336736

NM_032043.3(BRIP1):c.2575+1G>C

SNV
Germline

Chr17:61693429

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002426033 RCV003775302

NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)

SNV
Germline

Chr17:61685952

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

4 SubmittersRCV002441381 RCV003102216 RCV003336746

NM_032043.3(BRIP1):c.2905+3A>T

SNV
Germline

Chr17:61685833

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002439744 RCV003775416

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

2 SubmittersRCV002481136 RCV003635992

NM_000135.4(FANCA):c.190-2A>G

SNV
Germline

Chr16:89814615

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003064370

NM_000135.4(FANCA):c.2424T>C (p.Pro808=)

SNV
Germline

Chr16:89769917

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003073883 RCV003477040

NM_000135.4(FANCA):c.1566+2C>G

SNV
Germline

Chr16:89783005

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003051329

NM_020937.4(FANCM):c.448C>T (p.Gln150Ter)

SNV
Germline

Chr14:45136479

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003051001 RCV003340603

NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)

SNV
Germline

Chr9:95240718

Pathogenic/Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group C

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003037328 RCV003465918

NM_001018115.3(FANCD2):c.1656+1G>A

SNV
Germline

Chr3:10052498

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003066428

NM_000135.4(FANCA):c.2152-1G>A

SNV
Germline

Chr16:89770635

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

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

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

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

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

2 SubmittersRCV003082977 RCV003459747

NM_001113378.2(FANCI):c.3652-1G>T

SNV
Germline

Chr15:89312903

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003095721

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

2 SubmittersRCV002596014 RCV002610696

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

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

1 SubmittersRCV002595685

NM_032043.3(BRIP1):c.3320T>C (p.Leu1107Pro)

SNV
Germline

Chr17:61683726

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

2 SubmittersRCV002595280 RCV003318742

NM_000135.4(FANCA):c.596+1G>A

SNV
Germline

Chr16:89808293

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002615091

NM_000135.4(FANCA):c.617T>C (p.Val206Ala)

SNV
Germline

Chr16:89805372

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002599060 RCV003477049

NM_020937.4(FANCM):c.4930C>T (p.Arg1644Ter)

SNV
Germline

Chr14:45188952

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002607696

NM_000135.4(FANCA):c.1126C>T (p.Gln376Ter)

SNV
Germline

Chr16:89792026

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002628881

NM_020937.4(FANCM):c.901C>T (p.Gln301Ter)

SNV
Germline

Chr14:45148978

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV002633065 RCV003465984

NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter)

SNV
Germline

Chr16:89739512

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002647205

NM_020937.4(FANCM):c.5269C>T (p.Gln1757Ter)

SNV
Germline

Chr14:45189291

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002624544

NM_000135.4(FANCA):c.3754G>T (p.Glu1252Ter)

SNV
Germline

Chr16:89742811

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002663942

NM_032444.4(SLX4):c.4523C>A (p.Ser1508Ter)

SNV
Germline

Chr16:3589115

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003110662 RCV003329472

NM_020937.4(FANCM):c.1123C>T (p.Gln375Ter)

SNV
Germline

Chr14:45153992

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003108462 RCV004572846

NM_018062.4(FANCL):c.369G>A (p.Trp123Ter)

SNV
Germline

Chr2:58221947

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003117124

NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)

SNV
Germline

Chr17:61784316

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003117214 RCV003140250 RCV003336815

NM_020937.4(FANCM):c.52C>T (p.Arg18Ter)

SNV
Germline

Chr14:45136083

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002578307

NM_032043.3(BRIP1):c.2492+2T>C

SNV
Germline

Chr17:61715949

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

1 SubmittersRCV002569765

NM_000135.4(FANCA):c.3601C>T (p.Gln1201Ter)

SNV
Germline

Chr16:89744984

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002575909

NM_020937.4(FANCM):c.4054A>T (p.Lys1352Ter)

SNV
Germline

Chr14:45176808

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV002583539 RCV003465785

NM_000135.4(FANCA):c.2605C>G (p.Gln869Glu)

SNV
Germline

Chr16:89765063

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002584081

NM_020937.4(FANCM):c.2050G>T (p.Glu684Ter)

SNV
Germline

Chr14:45170636

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV002601496 RCV003464571

NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)

SNV
Germline

Chr17:61793599

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 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

2 SubmittersRCV002593558 RCV004017942

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002626163 RCV003308188

NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)

SNV
Germline

Chr17:61801454

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002610005 RCV003336772

NM_000135.4(FANCA):c.2977C>T (p.Gln993Ter)

SNV
Germline

Chr16:89758581

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV002636417 RCV004571198

NM_032444.4(SLX4):c.1552C>T (p.Gln518Ter)

SNV
Germline

Chr16:3597510

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002634994

NM_032444.4(SLX4):c.1912G>T (p.Glu638Ter)

SNV
Germline

Chr16:3596165

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV002643399 RCV004066757

NM_001113378.2(FANCI):c.882+2T>C

SNV
Germline

Chr15:89268527

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002666703

NM_004629.2(FANCG):c.1434-1G>C

SNV
Germline

Chr9:35075326

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002649954

NM_032444.4(SLX4):c.3529G>T (p.Glu1177Ter)

SNV
Germline

Chr16:3590109

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002725517

NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter)

SNV
Germline

Chr16:89740022

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002736642

NM_000135.4(FANCA):c.2709G>A (p.Trp903Ter)

SNV
Germline

Chr16:89764959

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002730606

NM_000135.4(FANCA):c.1867C>T (p.Gln623Ter)

SNV
Germline

Chr16:89775775

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002736130

NM_000135.4(FANCA):c.3477C>A (p.Cys1159Ter)

SNV
Germline

Chr16:89746620

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002760340

NM_000135.4(FANCA):c.426+2T>C

SNV
Germline

Chr16:89810927

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002745908

NM_032444.4(SLX4):c.4435C>T (p.Arg1479Ter)

SNV
Germline

Chr16:3589203

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV002785665 RCV004571248

NM_000135.4(FANCA):c.1225+2T>A

SNV
Germline

Chr16:89791925

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

1 SubmittersRCV002770456

NM_018062.4(FANCL):c.1A>C (p.Met1Leu)

SNV
Germline

Chr2:58241313

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002790386

NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)

SNV
Germline

Chr17:61859883

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002791583 RCV003167794

NM_032444.4(SLX4):c.4850C>G (p.Ser1617Ter)

SNV
Germline

Chr16:3583400

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002820239

NM_020937.4(FANCM):c.4294G>T (p.Gly1432Ter)

SNV
Germline

Chr14:45181501

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002797232

NM_000135.4(FANCA):c.893+1G>C

SNV
Germline

Chr16:89799165

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002801814

NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)

SNV
Germline

Chr17:61716054

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV002842295

NM_032043.3(BRIP1):c.93+4A>T

SNV
Germline

Chr17:61861443

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002835294 RCV003475439

NM_001113378.2(FANCI):c.1179T>A (p.Tyr393Ter)

SNV
Germline

Chr15:89276777

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003403931 RCV002846205

NM_032043.3(BRIP1):c.3005G>A (p.Trp1002Ter)

SNV
Germline

Chr17:61684041

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV002851589

NM_000136.3(FANCC):c.1330-2A>G

SNV
Germline

Chr9:95107271

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002857090

NM_032444.4(SLX4):c.1255G>T (p.Glu419Ter)

SNV
Germline

Chr16:3597908

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV002867046 RCV003308311

NM_032444.4(SLX4):c.1816C>T (p.Gln606Ter)

SNV
Germline

Chr16:3596261

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002857252

NM_018062.4(FANCL):c.541-2A>C

SNV
Germline

Chr2:58165876

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

1 SubmittersRCV002866558

NM_001018115.3(FANCD2):c.3103C>T (p.Gln1035Ter)

SNV
Germline

Chr3:10081226

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002889459

NM_004629.2(FANCG):c.643C>T (p.Gln215Ter)

SNV
Germline

Chr9:35077267

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002871965

NM_000135.4(FANCA):c.464T>A (p.Leu155Ter)

SNV
Germline

Chr16:89810765

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

1 SubmittersRCV002876952

NM_000135.4(FANCA):c.710-1G>T

SNV
Germline

Chr16:89803342

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002865974

NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)

SNV
Germline

Chr17:61686034

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002852365 RCV003336777 RCV003308306

NM_020937.4(FANCM):c.4318-2A>G

SNV
Germline

Chr14:45181635

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

Criteria Provided
Single Submitter

1 SubmittersRCV002876142

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002847888 RCV003477024

NM_001113378.2(FANCI):c.85-2A>G

SNV
Germline

Chr15:89258702

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

1 SubmittersRCV002866925

NM_004629.2(FANCG):c.1520C>T (p.Ala507Val)

SNV
Germline

Chr9:35075043

Conflicting classifications of pathogenicity

Inborn genetic diseases
Fanconi anemia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002900021 RCV002900022

NM_000135.4(FANCA):c.3392C>A (p.Thr1131Asn)

SNV
Germline

Chr16:89746847

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002886037

NM_001018115.3(FANCD2):c.2102C>T (p.Pro701Leu)

SNV
Germline

Chr3:10064809

Conflicting classifications of pathogenicity

Fanconi anemia
Ovarian cancer

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002891140 RCV003154263

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

2 SubmittersRCV002903032 RCV003464634

NM_000135.4(FANCA):c.4285G>T (p.Asp1429Tyr)

SNV
Germline

Chr16:89738684

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002895821

NM_000135.4(FANCA):c.3431G>A (p.Arg1144Gln)

SNV
Germline

Chr16:89746666

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002912838 RCV003477026

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

3 SubmittersRCV002903845 RCV003336782

NM_032444.4(SLX4):c.1684-2A>C

SNV
Germline

Chr16:3596395

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002872733

NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)

SNV
Germline

Chr17:61847217

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002872779 RCV003382957 RCV004786761

NM_000135.4(FANCA):c.3733C>T (p.Gln1245Ter)

SNV
Germline

Chr16:89742832

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002890069

NM_001113378.2(FANCI):c.504-2A>G

SNV
Germline

Chr15:89263417

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002882066

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

2 SubmittersRCV002914687 RCV002923000

NM_032444.4(SLX4):c.2013+2T>C

SNV
Germline

Chr16:3595603

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002937634

NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter)

SNV
Germline

Chr14:45175842

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided
FANCM-related disorder
Premature ovarian failure 15

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002937698 RCV004721092 RCV004725418 RCV004595677

NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter)

SNV
Germline

Chr16:89752220

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV002947425 RCV003336783

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

2 SubmittersRCV002944151 RCV003465879

NM_000136.3(FANCC):c.532G>T (p.Glu178Ter)

SNV
Germline

Chr9:95150077

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002982364

NM_020937.4(FANCM):c.438G>A (p.Leu146=)

SNV
Germline

Chr14:45136469

Conflicting classifications of pathogenicity

Fanconi anemia
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002953807 RCV004999842

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

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

2 SubmittersRCV002953467 RCV003465873

NM_020937.4(FANCM):c.3136C>T (p.Gln1046Ter)

SNV
Germline

Chr14:45175890

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002949008

NM_001018113.3(FANCB):c.41G>A (p.Arg14Lys)

SNV
Germline

ChrX:14865470

Conflicting classifications of pathogenicity

Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002967325 RCV004068318

NM_058216.3(RAD51C):c.571+2863A>G

SNV
Germline

Chr17:58699722

Likely pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

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

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002994665 RCV003138434

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

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

2 SubmittersRCV002982995 RCV003465884

NM_004629.2(FANCG):c.308-1G>A

SNV
Germline

Chr9:35078344

Likely pathogenic

Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003026163 RCV003459702

NM_000135.4(FANCA):c.792+1G>C

SNV
Germline

Chr16:89803258

Pathogenic

Fanconi anemia complementation group A
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003459701 RCV003033612

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

2 SubmittersRCV003022840 RCV003336792

NM_004629.2(FANCG):c.1144-2A>G

SNV
Germline

Chr9:35075756

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

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

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

2 SubmittersRCV003023551 RCV004786794

NM_000135.4(FANCA):c.4168-1G>A

SNV
Germline

Chr16:89738975

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003017434

NM_000135.4(FANCA):c.3349-1G>C

SNV
Germline

Chr16:89746891

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

1 SubmittersRCV003025051

NM_000135.4(FANCA):c.1083+1G>A

SNV
Germline

Chr16:89792470

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003043416

NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)

SNV
Germline

Chr17:61686145

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003049543 RCV003336798

NM_000135.4(FANCA):c.1576G>T (p.Glu526Ter)

SNV
Germline

Chr16:89782909

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003047487

NM_032043.3(BRIP1):c.2492+1G>T

SNV
Germline

Chr17:61715950

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003033251 RCV003475475

NM_032043.3(BRIP1):c.2905+2T>A

SNV
Germline

Chr17:61685834

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003055843 RCV003493975

NM_022725.4(FANCF):c.535A>T (p.Lys179Ter)

SNV
Germline

Chr11:22625276

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003048995

NM_000135.4(FANCA):c.1737C>A (p.Tyr579Ter)

SNV
Germline

Chr16:89778982

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003057189

NM_004629.2(FANCG):c.1637-1G>A

SNV
Germline

Chr9:35074495

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003039679

NM_000135.4(FANCA):c.3260C>A (p.Ser1087Ter)

SNV
Germline

Chr16:89748747

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

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

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

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

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

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

2 SubmittersRCV003155617

NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter)

SNV
Germline

Chr16:89767171

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003155659

NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)

SNV
Germline

Chr3:10046697

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003155819

NM_005236.3(ERCC4):c.100G>A (p.Val34Met)

SNV
Germline

Chr16:13920265

Conflicting classifications of pathogenicity

Ovarian cancer
Cockayne syndrome
Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003154735 RCV003778920

NM_022836.4(DCLRE1B):c.248A>G (p.Asp83Gly)

SNV
Germline

Chr1:113907054

Pathogenic

Fanconi anemia complementation group C

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003232890

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

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

1 SubmittersRCV003330195

NM_032444.4(SLX4):c.100C>T (p.Gln34Ter)

SNV
Germline

Chr16:3608865

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003334203 RCV003777415

NM_032043.3(BRIP1):c.1141-2A>C

SNV
Germline

Chr17:61799301

Likely pathogenic

Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

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

2 SubmittersRCV003777427 RCV003335761

NM_032043.3(BRIP1):c.2258-1G>C

SNV
Germline

Chr17:61743135

Likely pathogenic

Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

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

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

1 SubmittersRCV003338115

NM_000136.3(FANCC):c.1114T>C (p.Ser372Pro)

SNV
Germline

Chr9:95114669

Conflicting classifications of pathogenicity

Fanconi anemia complementation group C
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003989837 RCV003356323

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

2 SubmittersRCV003367459 RCV003523165

NM_032043.3(BRIP1):c.396C>G (p.Thr132=)

SNV
Germline

Chr17:61849240

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003382352 RCV003778150

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

2 SubmittersRCV003382353 RCV003778151

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

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

2 SubmittersRCV003402549 RCV003636014

NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)

SNV
Germline

Chr9:35076726

Pathogenic/Likely pathogenic

FANCG-related disorder
Fanconi anemia
Fanconi anemia complementation group G

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003416907 RCV003523169 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

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

3 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

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

2 SubmittersRCV003447866 RCV003778494

NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter)

SNV
Unknown

Chr6:35459439

Pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

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

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

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

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

2 SubmittersRCV003461486 RCV003523185

NM_004629.2(FANCG):c.1636+1G>C

SNV
Unknown

Chr9:35074926

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

1 SubmittersRCV003468152

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

SNV
Unknown

Chr9:35078604

Likely pathogenic

Fanconi anemia complementation group G

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

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

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

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

2 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

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

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

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

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

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

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

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

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

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

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

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

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

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

2 SubmittersRCV003468176 RCV003779032

NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter)

SNV
Unknown

Chr15:89292792

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

1 SubmittersRCV003468177

NM_001113378.2(FANCI):c.1699-2A>C

SNV
Unknown

Chr15:89285094

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

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

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

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

2 SubmittersRCV003461537 RCV003523187

NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter)

SNV
Unknown

Chr15:89292754

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

1 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

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

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

1 SubmittersRCV003461543

NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter)

SNV
Unknown

Chr15:89276844

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

1 SubmittersRCV003461544

NM_001113378.2(FANCI):c.1890+1G>T

SNV
Unknown

Chr15:89290282

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

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

1 SubmittersRCV003468183

NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter)

SNV
Unknown

Chr15:89273383

Likely pathogenic

Fanconi anemia complementation group I

Criteria Provided
Single Submitter

1 SubmittersRCV003461550

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

1 SubmittersRCV003460162

NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter)

SNV
Unknown

Chr16:89791993

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV003460164

NM_000135.4(FANCA):c.793-2A>T

SNV
Unknown

Chr16:89799640

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

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

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

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

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

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

2 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

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

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

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

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

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

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

1 SubmittersRCV003460188

NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)

SNV
Germline

Chr3:10074590

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D2
Fanconi anemia
FANCD2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003468123 RCV003779026 RCV003901088

NM_001018115.3(FANCD2):c.4186-2A>G

SNV
Unknown

Chr3:10098718

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

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

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

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

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

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

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

1 SubmittersRCV003460200

NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)

SNV
Germline

Chr3:10039307

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

2 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

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

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

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

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

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

1 SubmittersRCV003460210

NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)

SNV
Germline

Chr3:10060321

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D2
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003468134 RCV003523184

NM_001018115.3(FANCD2):c.3889-2A>G

SNV
Unknown

Chr3:10094287

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

1 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

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

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

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

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

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

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

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

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

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

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

1 SubmittersRCV003461470

NM_021922.3(FANCE):c.1113+2T>A

SNV
Unknown

Chr6:35458442

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

1 SubmittersRCV003461471

NM_021922.3(FANCE):c.1238-2A>C

SNV
Unknown

Chr6:35459680

Likely pathogenic

Fanconi anemia complementation group E

Criteria Provided
Single Submitter

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

2 SubmittersRCV003477219 RCV003636039

NM_032043.3(BRIP1):c.621A>G (p.Pro207=)

SNV
Germline

Chr17:61847107

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003494216 RCV003779296 RCV004786949 RCV004999948

NM_001113378.2(FANCI):c.2291+1G>A

SNV
Germline

Chr15:89293064

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523242

NM_000135.4(FANCA):c.814A>T (p.Arg272Ter)

SNV
Germline

Chr16:89799617

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523359

NM_001018115.3(FANCD2):c.1098+2T>A

SNV
Germline

Chr3:10043594

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523225

NM_058216.3(RAD51C):c.627T>G (p.Tyr209Ter)

SNV
Germline

Chr17:58703251

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003508081 RCV004368982 RCV004736343 RCV004368981

NM_001113378.2(FANCI):c.475C>T (p.Gln159Ter)

SNV
Germline

Chr15:89261850

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003524085

NM_024675.4(PALB2):c.3202-13T>C

SNV
Germline

Chr16:23608025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
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

3 SubmittersRCV003585421 RCV003500873 RCV003596262

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

2 SubmittersRCV003523908 RCV004950380

NM_001018115.3(FANCD2):c.3501G>A (p.Trp1167Ter)

SNV
Germline

Chr3:10088483

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003524051

NM_032444.4(SLX4):c.951-1G>C

SNV
Germline

Chr16:3601192

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003522174

NM_000135.4(FANCA):c.736G>T (p.Gly246Ter)

SNV
Germline

Chr16:89803315

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003524285 RCV004574067

NM_001113378.2(FANCI):c.3007-1G>A

SNV
Germline

Chr15:89303863

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003522279

NM_001113378.2(FANCI):c.2097C>A (p.Tyr699Ter)

SNV
Germline

Chr15:89292792

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003522183 RCV004574072

NM_018062.4(FANCL):c.471+1G>A

SNV
Germline

Chr2:58204129

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003525073 RCV004999963

NM_001018115.3(FANCD2):c.3019A>T (p.Arg1007Ter)

SNV
Germline

Chr3:10081142

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003525074

NM_001113378.2(FANCI):c.446-2A>G

SNV
Germline

Chr15:89261819

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003525079

NM_018062.4(FANCL):c.940C>T (p.Gln314Ter)

SNV
Germline

Chr2:58161602

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003525080

NM_020937.4(FANCM):c.2034G>A (p.Trp678Ter)

SNV
Germline

Chr14:45170620

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003525089

NM_001113378.2(FANCI):c.244C>T (p.Gln82Ter)

SNV
Germline

Chr15:89260799

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003522381

NM_020937.4(FANCM):c.4673-1G>A

SNV
Germline

Chr14:45187780

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003524873

NM_001018115.3(FANCD2):c.667C>T (p.Gln223Ter)

SNV
Germline

Chr3:10039817

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003525041

NM_001113378.2(FANCI):c.2134A>T (p.Arg712Ter)

SNV
Germline

Chr15:89292829

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003522504

NM_001113378.2(FANCI):c.85-1G>A

SNV
Germline

Chr15:89258703

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003525114 RCV004796819

NM_032444.4(SLX4):c.4549G>T (p.Glu1517Ter)

SNV
Germline

Chr16:3589089

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003525343 RCV004574110

NM_001018115.3(FANCD2):c.3250C>T (p.Gln1084Ter)

SNV
Germline

Chr3:10085837

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523429

NM_001113378.2(FANCI):c.2014C>T (p.Gln672Ter)

SNV
Germline

Chr15:89292709

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003523571 RCV004574118

NM_004629.2(FANCG):c.601C>T (p.Gln201Ter)

SNV
Germline

Chr9:35077309

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523464

NM_001018115.3(FANCD2):c.695+1G>A

SNV
Germline

Chr3:10039846

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523467

NM_020937.4(FANCM):c.5340+2T>C

SNV
Germline

Chr14:45189364

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523625

NM_001018115.3(FANCD2):c.3224+1G>C

SNV
Germline

Chr3:10081465

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523679

NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)

SNV
Germline

Chr2:58204217

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523738

NM_058216.3(RAD51C):c.837T>C (p.Ala279=)

SNV
Germline

Chr17:58709990

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003508922 RCV003584132

NM_020937.4(FANCM):c.2503G>T (p.Glu835Ter)

SNV
Germline

Chr14:45175257

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523534

NM_000136.3(FANCC):c.994C>T (p.Gln332Ter)

SNV
Germline

Chr9:95125088

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523540

NM_001113378.2(FANCI):c.3808A>T (p.Lys1270Ter)

SNV
Germline

Chr15:89314699

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523729

NM_004629.2(FANCG):c.1352G>A (p.Trp451Ter)

SNV
Germline

Chr9:35075546

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523775

NM_004629.2(FANCG):c.1497T>A (p.Cys499Ter)

SNV
Germline

Chr9:35075066

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523853

NM_001018115.3(FANCD2):c.3849+1G>T

SNV
Germline

Chr3:10092253

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003523860

NM_001113378.2(FANCI):c.157+1G>A

SNV
Germline

Chr15:89258777

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003524507

NM_001113378.2(FANCI):c.1105A>T (p.Lys369Ter)

SNV
Germline

Chr15:89274297

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003524435

NM_000136.3(FANCC):c.996+2T>C

SNV
Germline

Chr9:95125084

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003524439

NM_001113378.2(FANCI):c.976-1G>T

SNV
Germline

Chr15:89274167

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003524444

NM_001018115.3(FANCD2):c.3998T>A (p.Leu1333Ter)

SNV
Germline

Chr3:10095234

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003524491

NM_001018115.3(FANCD2):c.888+1G>A

SNV
Germline

Chr3:10042664

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003524681

NM_004629.2(FANCG):c.925-1G>T

SNV
Germline

Chr9:35076584

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003524850

NM_000135.4(FANCA):c.2014+1G>A

SNV
Germline

Chr16:89773270

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003522702

NM_001113378.2(FANCI):c.3146T>A (p.Leu1049Ter)

SNV
Germline

Chr15:89305202

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003522708

NM_001018115.3(FANCD2):c.2837T>G (p.Leu946Ter)

SNV
Germline

Chr3:10074651

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003522781

NM_001018115.3(FANCD2):c.1003C>T (p.Gln335Ter)

SNV
Germline

Chr3:10043497

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003522782

NM_000135.4(FANCA):c.3310A>T (p.Arg1104Ter)

SNV
Germline

Chr16:89748697

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003522882

NM_018062.4(FANCL):c.96+2T>A

SNV
Germline

Chr2:58241216

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003522639

NM_000135.4(FANCA):c.283+2T>G

SNV
Germline

Chr16:89814518

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003522680

NM_001113378.2(FANCI):c.2292-1G>T

SNV
Germline

Chr15:89293832

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003522681

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

2 SubmittersRCV003522813 RCV004574134

NM_001018115.3(FANCD2):c.2164C>T (p.Gln722Ter)

SNV
Germline

Chr3:10064871

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003522626

NM_018062.4(FANCL):c.1048C>T (p.Gln350Ter)

SNV
Germline

Chr2:58160152

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003524799

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

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

2 SubmittersRCV003522888 RCV004621838

NM_032043.3(BRIP1):c.2157G>A (p.Leu719=)

SNV
Germline

Chr17:61744532

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003585052 RCV003779349

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

2 SubmittersRCV003636064 RCV004980896

NM_000135.4(FANCA):c.1360-2A>G

SNV
Germline

Chr16:89784966

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636101

NM_004629.2(FANCG):c.1379G>A (p.Gly460Asp)

SNV
Germline

Chr9:35075519

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636098

NM_032444.4(SLX4):c.3646C>T (p.Gln1216Ter)

SNV
Germline

Chr16:3589992

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636122

NM_001113378.2(FANCI):c.2593C>T (p.Gln865Ter)

SNV
Germline

Chr15:89295051

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636345

NM_001018115.3(FANCD2):c.1766+1G>A

SNV
Germline

Chr3:10060404

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636229

NM_000135.4(FANCA):c.1210C>T (p.Gln404Ter)

SNV
Germline

Chr16:89791942

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636247

NM_000136.3(FANCC):c.251-2A>T

SNV
Germline

Chr9:95240745

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

1 SubmittersRCV003620572

NM_004629.2(FANCG):c.836G>A (p.Trp279Ter)

SNV
Germline

Chr9:35076812

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637070

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

2 SubmittersRCV003618411 RCV004371666

NM_000135.4(FANCA):c.1225+2T>G

SNV
Germline

Chr16:89791925

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637136

NM_058216.3(RAD51C):c.1000G>T (p.Glu334Ter)

SNV
Germline

Chr17:58732518

Likely pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

1 SubmittersRCV003618432

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

SNV
Germline

Chr16:89752137

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637031

NM_001018115.3(FANCD2):c.1654C>T (p.Gln552Ter)

SNV
Germline

Chr3:10052495

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637265

NM_004629.2(FANCG):c.925-1G>C

SNV
Germline

Chr9:35076584

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637195

NM_018062.4(FANCL):c.842T>G (p.Leu281Ter)

SNV
Germline

Chr2:58162927

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637234

NM_000135.4(FANCA):c.3824C>G (p.Ser1275Ter)

SNV
Germline

Chr16:89740808

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003637348 RCV004574283

NM_000135.4(FANCA):c.1716-2A>G

SNV
Germline

Chr16:89779005

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637302

NM_001113378.2(FANCI):c.739G>T (p.Glu247Ter)

SNV
Germline

Chr15:89264591

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637738

NM_000135.4(FANCA):c.827-1G>A

SNV
Germline

Chr16:89799233

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637641

NM_001018115.3(FANCD2):c.2425A>T (p.Lys809Ter)

SNV
Germline

Chr3:10067248

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637647

NM_000135.4(FANCA):c.597-2A>T

SNV
Germline

Chr16:89805394

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637736

NM_000136.3(FANCC):c.285T>A (p.Cys95Ter)

SNV
Germline

Chr9:95240709

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637936

NM_018062.4(FANCL):c.548T>A (p.Leu183Ter)

SNV
Germline

Chr2:58165867

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637901

NM_058216.3(RAD51C):c.837+5G>A

SNV
Germline

Chr17:58709995

Pathogenic

Fanconi anemia complementation group O

Criteria Provided
Single Submitter

1 SubmittersRCV003617426

NM_001018115.3(FANCD2):c.2270-1G>C

SNV
Germline

Chr3:10065863

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637887

NM_001018115.3(FANCD2):c.4063C>T (p.Gln1355Ter)

SNV
Germline

Chr3:10096350

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637889

NM_032444.4(SLX4):c.1540G>T (p.Glu514Ter)

SNV
Germline

Chr16:3597522

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637920

NM_001113378.2(FANCI):c.1293+2T>G

SNV
Germline

Chr15:89276893

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637877

NM_001113378.2(FANCI):c.3006+1G>A

SNV
Germline

Chr15:89301443

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637912

NM_032444.4(SLX4):c.1163+1G>A

SNV
Germline

Chr16:3600978

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637945

NM_001018115.3(FANCD2):c.695+2T>A

SNV
Germline

Chr3:10039847

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003638109

NM_000136.3(FANCC):c.343C>T (p.Gln115Ter)

SNV
Germline

Chr9:95240651

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635517

NM_018062.4(FANCL):c.96+2T>C

SNV
Germline

Chr2:58241216

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635544

NM_001113378.2(FANCI):c.3199G>T (p.Glu1067Ter)

SNV
Germline

Chr15:89305353

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635546

NM_000135.4(FANCA):c.3348+2T>G

SNV
Germline

Chr16:89748657

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635501

NM_001113378.2(FANCI):c.878T>G (p.Leu293Ter)

SNV
Germline

Chr15:89268521

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635583

NM_000135.4(FANCA):c.793-2A>G

SNV
Germline

Chr16:89799640

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635530

NM_000135.4(FANCA):c.645C>A (p.Cys215Ter)

SNV
Germline

Chr16:89805344

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

1 SubmittersRCV003621413

NM_001113378.2(FANCI):c.1852C>T (p.Gln618Ter)

SNV
Germline

Chr15:89290243

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635587

NM_018062.4(FANCL):c.325C>T (p.Gln109Ter)

SNV
Germline

Chr2:58221991

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635618

NM_018062.4(FANCL):c.775+2T>C

SNV
Germline

Chr2:58163432

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635738

NM_000136.3(FANCC):c.66G>A (p.Trp22Ter)

SNV
Germline

Chr9:95249226

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635726

NM_018062.4(FANCL):c.821+1G>A

SNV
Germline

Chr2:58163028

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635604

NM_000135.4(FANCA):c.710-1G>A

SNV
Germline

Chr16:89803342

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635753

NM_001113378.2(FANCI):c.3058+1G>C

SNV
Germline

Chr15:89303916

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635811

NM_001113378.2(FANCI):c.1407T>G (p.Tyr469Ter)

SNV
Germline

Chr15:89281195

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635858

NM_001018115.3(FANCD2):c.283G>T (p.Glu95Ter)

SNV
Germline

Chr3:10034704

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636450

NM_018062.4(FANCL):c.62C>A (p.Ser21Ter)

SNV
Germline

Chr2:58241252

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635803

NM_001018115.3(FANCD2):c.458T>C (p.Leu153Ser)

SNV
Germline

Chr3:10036306

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636471

NM_001018115.3(FANCD2):c.1546-1G>A

SNV
Germline

Chr3:10052386

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635794

NM_004629.2(FANCG):c.1637-2A>G

SNV
Germline

Chr9:35074496

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636525

NM_001113378.2(FANCI):c.2191C>T (p.Gln731Ter)

SNV
Germline

Chr15:89292963

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635778

NM_001113378.2(FANCI):c.2889+2T>C

SNV
Germline

Chr15:89300387

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003635819

NM_001018115.3(FANCD2):c.361C>T (p.Gln121Ter)

SNV
Germline

Chr3:10034782

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636490

NM_022725.4(FANCF):c.667G>T (p.Glu223Ter)

SNV
Germline

Chr11:22625144

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636521

NM_020937.4(FANCM):c.2255C>A (p.Ser752Ter)

SNV
Germline

Chr14:45173149

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636635

NM_001018115.3(FANCD2):c.65-1G>T

SNV
Germline

Chr3:10032831

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636774

NM_032444.4(SLX4):c.4291G>T (p.Glu1431Ter)

SNV
Germline

Chr16:3589347

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636662

NM_001018115.3(FANCD2):c.1134+1G>A

SNV
Germline

Chr3:10043865

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

1 SubmittersRCV003620212

NM_032444.4(SLX4):c.2565T>A (p.Tyr855Ter)

SNV
Germline

Chr16:3591073

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636729

NM_001113378.2(FANCI):c.2169+1G>A

SNV
Germline

Chr15:89292865

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636767

NM_000136.3(FANCC):c.1533+1G>A

SNV
Germline

Chr9:95107065

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636614

NM_001018115.3(FANCD2):c.2495-2A>G

SNV
Germline

Chr3:10072869

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636616

NM_018062.4(FANCL):c.31C>T (p.Gln11Ter)

SNV
Germline

Chr2:58241283

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636821

NM_001018115.3(FANCD2):c.2447T>A (p.Leu816Ter)

SNV
Germline

Chr3:10067270

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636717

NM_000135.4(FANCA):c.1715+1G>A

SNV
Germline

Chr16:89779868

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636747

NM_001018115.3(FANCD2):c.4038+2T>G

SNV
Germline

Chr3:10095276

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636847

NM_018062.4(FANCL):c.903+1G>T

SNV
Germline

Chr2:58162865

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003636848

NM_020937.4(FANCM):c.4501C>T (p.Gln1501Ter)

SNV
Germline

Chr14:45183888

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637395

NM_001018115.3(FANCD2):c.4039-2A>G

SNV
Germline

Chr3:10096324

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637545

NM_001018115.3(FANCD2):c.571-2A>G

SNV
Germline

Chr3:10039719

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003636831 RCV004573277

NM_001113378.2(FANCI):c.2476C>T (p.Gln826Ter)

SNV
Germline

Chr15:89294934

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637504

NM_000135.4(FANCA):c.3315C>A (p.Cys1105Ter)

SNV
Germline

Chr16:89748692

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637569

NM_001113378.2(FANCI):c.2169+2T>C

SNV
Germline

Chr15:89292866

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003637615

NM_032043.3(BRIP1):c.2995A>T (p.Arg999Ter)

SNV
Germline

Chr17:61684051

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV003784649

NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)

SNV
Germline

Chr16:13920313

Pathogenic

Xeroderma pigmentosum, group F
Cockayne syndrome
Fanconi anemia complementation group Q

Criteria Provided
Single Submitter

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

1 SubmittersRCV003781269

NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)

SNV
Germline

Chr16:13935308

Pathogenic

Fanconi anemia complementation group Q
Cockayne syndrome
Xeroderma pigmentosum, group F

Criteria Provided
Single Submitter

1 SubmittersRCV003781677

NM_032043.3(BRIP1):c.1795-1G>C

SNV
Germline

Chr17:61780402

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV003782596

NM_032043.3(BRIP1):c.1935+1G>A

SNV
Germline

Chr17:61780260

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

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

2 SubmittersRCV003788402 RCV004784178

NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)

SNV
Germline

Chr16:13930803

Pathogenic

Xeroderma pigmentosum, group F
Fanconi anemia complementation group Q
Cockayne syndrome

Criteria Provided
Single Submitter

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

1 SubmittersRCV003794202

NM_032043.3(BRIP1):c.1119A>G (p.Leu373=)

SNV
Germline

Chr17:61801274

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003791942 RCV004790621

NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)

SNV
Germline

Chr17:61784424

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV003800121

NM_032043.3(BRIP1):c.507+2T>A

SNV
Germline

Chr17:61849127

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV003801073

NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)

SNV
Germline

Chr17:61793666

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV003807024

NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)

SNV
Germline

Chr17:61744587

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003810370 RCV004588507

NM_020937.4(FANCM):c.5530C>T (p.Gln1844Ter)

SNV
Germline

Chr14:45196361

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003822247

NM_000135.4(FANCA):c.1038G>A (p.Trp346Ter)

SNV
Germline

Chr16:89792516

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003822260

NM_001113378.2(FANCI):c.1381+1G>T

SNV
Germline

Chr15:89278775

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003828147

NM_020937.4(FANCM):c.2678A>G (p.Asp893Gly)

SNV
Germline

Chr14:45175432

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003837522 RCV004701846 RCV005000044

NM_000135.4(FANCA):c.3513+1G>C

SNV
Germline

Chr16:89746583

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003837647

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

2 SubmittersRCV003835525 RCV004366844

NM_001018115.3(FANCD2):c.3889-1G>A

SNV
Germline

Chr3:10094288

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003841064

NM_018062.4(FANCL):c.616G>T (p.Glu206Ter)

SNV
Germline

Chr2:58165799

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003858041

NM_000135.4(FANCA):c.3766-1G>A

SNV
Germline

Chr16:89740867

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003846852

NM_001113378.2(FANCI):c.2062G>T (p.Gly688Ter)

SNV
Germline

Chr15:89292757

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003847322

NM_032444.4(SLX4):c.39C>G (p.Tyr13Ter)

SNV
Germline

Chr16:3608926

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003855823

NM_001018115.3(FANCD2):c.1947+1G>A

SNV
Germline

Chr3:10063912

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003859306

NM_000135.4(FANCA):c.1566+1G>T

SNV
Germline

Chr16:89783006

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003859725

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

SNV
Germline

Chr9:95249126

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003864208

NM_001018115.3(FANCD2):c.2116C>T (p.Gln706Ter)

SNV
Germline

Chr3:10064823

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

1 SubmittersRCV003861758

NM_000135.4(FANCA):c.3715G>T (p.Glu1239Ter)

SNV
Germline

Chr16:89742850

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003861759

NM_020937.4(FANCM):c.5815G>T (p.Glu1939Ter)

SNV
Germline

Chr14:45198742

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003853698

NM_001113378.2(FANCI):c.2637-1G>C

SNV
Germline

Chr15:89299799

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003851607 RCV004573366

NM_001018115.3(FANCD2):c.3849+1G>A

SNV
Germline

Chr3:10092253

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003860382

NM_004629.2(FANCG):c.1603C>T (p.Gln535Ter)

SNV
Germline

Chr9:35074960

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003875893

NM_000135.4(FANCA):c.3626+2T>G

SNV
Germline

Chr16:89744957

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003874646 RCV004767504

NM_004629.2(FANCG):c.84+1G>A

SNV
Germline

Chr9:35079440

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

1 SubmittersRCV003872191

NM_020937.4(FANCM):c.3975T>G (p.Tyr1325Ter)

SNV
Germline

Chr14:45176729

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003870991

NM_000136.3(FANCC):c.1228C>T (p.Gln410Ter)

SNV
Germline

Chr9:95111564

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003879434

NM_020937.4(FANCM):c.2076T>A (p.Tyr692Ter)

SNV
Germline

Chr14:45170662

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003879688

NM_001113378.2(FANCI):c.2614C>T (p.Gln872Ter)

SNV
Germline

Chr15:89295072

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003864651

NM_000135.4(FANCA):c.1007-1G>A

SNV
Germline

Chr16:89792548

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003876477

NM_001018115.3(FANCD2):c.1867C>T (p.Gln623Ter)

SNV
Germline

Chr3:10063831

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

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

2 SubmittersRCV003899683 RCV004573418

NM_032043.3(BRIP1):c.2258-2A>G

SNV
Germline

Chr17:61743136

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV004018178

NM_000135.4(FANCA):c.3348+1G>T

SNV
Germline

Chr16:89748658

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV004018184

NM_001018115.3(FANCD2):c.1278+1G>T

SNV
Germline

Chr3:10046724

Likely pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV004018327

NM_000135.4(FANCA):c.2680A>T (p.Arg894Ter)

SNV
Germline

Chr16:89764988

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

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

1 SubmittersRCV004554987

NM_000135.4(FANCA):c.893+2T>A

SNV
Germline

Chr16:89799164

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

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

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

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

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

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

1 SubmittersRCV004576524

NM_000135.4(FANCA):c.3919C>T (p.Gln1307Ter)

SNV
Unknown

Chr16:89740009

Pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 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

1 SubmittersRCV004576528

NM_000135.4(FANCA):c.3627-2A>G

SNV
Unknown

Chr16:89742940

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

1 SubmittersRCV004576529

NM_000135.4(FANCA):c.427-1G>A

SNV
Unknown

Chr16:89810803

Likely pathogenic

Fanconi anemia complementation group A

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

1 SubmittersRCV004576546

NM_001018115.3(FANCD2):c.3238C>T (p.Gln1080Ter)

SNV
Unknown

Chr3:10085825

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

1 SubmittersRCV004576547

NM_001018115.3(FANCD2):c.3335+1G>A

SNV
Unknown

Chr3:10085923

Likely pathogenic

Fanconi anemia complementation group D2

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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_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_000135.4(FANCA):c.3494T>G (p.Leu1165Ter)

SNV
Germline

Chr16:89746603

Pathogenic

Fanconi anemia

Criteria Provided
Single Submitter

1 SubmittersRCV004800177