ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2680G>A (p.Val894Ile) (rs28897715)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162506 SCV000212896 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077283 SCV000146087 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000162506 SCV000902686 benign Hereditary cancer-predisposing syndrome 2016-04-11 criteria provided, single submitter clinical testing
Counsyl RCV000077283 SCV000220313 benign Breast-ovarian cancer, familial 2 2014-05-13 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000077283 SCV000744428 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Medical Genetics,University Hospital of North Norway RCV000077283 SCV000301445 likely benign Breast-ovarian cancer, familial 2 2016-05-01 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000160217 SCV000591816 likely benign not specified 2016-09-07 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077283 SCV000244431 benign Breast-ovarian cancer, familial 2 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000836
GeneDx RCV000160217 SCV000210580 likely benign not specified 2017-11-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000077283 SCV000743275 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588499 SCV000694617 benign not provided 2016-01-08 criteria provided, single submitter clinical testing
Invitae RCV000044037 SCV000072050 benign Hereditary breast and ovarian cancer syndrome 2018-01-03 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000588499 SCV000778654 likely benign not provided 2017-10-09 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077283 SCV000109080 benign Breast-ovarian cancer, familial 2 2012-11-21 no assertion criteria provided clinical testing

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