ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) (rs55939572)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162692 SCV000213146 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031831 SCV000145792 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000162692 SCV000684073 likely benign Hereditary cancer-predisposing syndrome 2015-08-27 criteria provided, single submitter clinical testing
Counsyl RCV000031831 SCV000220311 likely benign Breast-ovarian cancer, familial 2 2014-05-13 criteria provided, single submitter literature only
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735629 SCV000863767 uncertain significance Breast and/or ovarian cancer 2001-12-28 no assertion criteria provided clinical testing
GeneDx RCV000045855 SCV000210552 benign not specified 2014-07-21 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.
Genetic Services Laboratory, University of Chicago RCV000045855 SCV000593700 likely benign not specified 2016-12-07 criteria provided, single submitter clinical testing
Invitae RCV000203661 SCV000073868 benign Hereditary breast and ovarian cancer syndrome 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000045855 SCV000805796 benign not specified 2017-06-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758980 SCV000887970 benign not provided 2018-05-22 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031831 SCV000054439 benign Breast-ovarian cancer, familial 2 2008-09-01 no assertion criteria provided clinical testing

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