ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.506A>G (p.Lys169Arg) (rs80358730)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000044547 SCV000072560 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000074532 SCV000108617 likely benign not specified 2017-11-06 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.
Ambry Genetics RCV000129126 SCV000183844 likely benign Hereditary cancer-predisposing syndrome 2018-09-06 criteria provided, single submitter clinical testing Other data supporting benign classification;In silico models in agreement (benign)
Michigan Medical Genetics Laboratories,University of Michigan RCV000031522 SCV000267730 likely benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Counsyl RCV000031522 SCV000487798 uncertain significance Breast-ovarian cancer, familial 2 2015-11-17 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000074532 SCV000591687 uncertain significance not specified 2015-01-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000074532 SCV000600623 uncertain significance not specified 2017-06-07 criteria provided, single submitter clinical testing
Color RCV000129126 SCV000910662 likely benign Hereditary cancer-predisposing syndrome 2015-11-16 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031522 SCV000054127 benign Breast-ovarian cancer, familial 2 2007-04-03 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031522 SCV000147027 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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