ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)

gnomAD frequency: 0.00292  dbSNP: rs2219594
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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000044469 SCV000072482 benign Hereditary breast ovarian cancer syndrome 2021-12-17 criteria provided, single submitter clinical testing
Counsyl RCV000077334 SCV000154088 benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-03-18 criteria provided, single submitter literature only
Ambry Genetics RCV000128957 SCV000172838 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins NTD LLC (GA) RCV000120328 SCV000225182 benign not specified 2014-08-04 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000077334 SCV000267769 benign Breast-ovarian cancer, familial, susceptibility to, 2 2016-04-21 criteria provided, single submitter clinical testing
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000414161 SCV000492495 uncertain significance Breast neoplasm criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000044469 SCV000494327 benign Hereditary breast ovarian cancer syndrome 2014-03-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000463461 SCV000541066 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000120328 SCV000602797 benign not specified 2019-03-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000128957 SCV000683643 likely benign Hereditary cancer-predisposing syndrome 2015-03-12 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000077334 SCV000744460 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120328 SCV000805712 benign not specified 2017-03-20 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV000044469 SCV002026105 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000120328 SCV002070581 likely benign not specified 2021-12-08 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000128957 SCV002533894 benign Hereditary cancer-predisposing syndrome 2020-07-08 criteria provided, single submitter curation
ITMI RCV000120328 SCV000084480 not provided not specified 2013-09-19 no assertion provided reference population
Sharing Clinical Reports Project (SCRP) RCV000077334 SCV000109131 benign Breast-ovarian cancer, familial, susceptibility to, 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077334 SCV000146468 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2002-05-29 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120328 SCV001549977 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000120328 SCV001906222 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001705697 SCV001931721 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001705697 SCV001951264 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001705697 SCV002035369 likely benign not provided no assertion criteria provided clinical testing

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