ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6131G>T (p.Gly2044Val) (rs56191579)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000413633 SCV000492497 uncertain significance Neoplasm of the breast criteria provided, single submitter research
Ambry Genetics RCV000130525 SCV000185394 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031602 SCV000146776 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000130525 SCV000683756 likely benign Hereditary cancer-predisposing syndrome 2015-04-25 criteria provided, single submitter clinical testing
Counsyl RCV000031602 SCV000220301 likely benign Breast-ovarian cancer, familial 2 2014-05-10 criteria provided, single submitter literature only
GeneDx RCV000421588 SCV000512376 likely benign not specified 2017-10-02 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 RCV000421588 SCV000593750 likely benign not specified 2016-12-20 criteria provided, single submitter clinical testing
Invitae RCV000044854 SCV000072867 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031602 SCV000054209 benign Breast-ovarian cancer, familial 2 2011-03-02 no assertion criteria provided clinical testing

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