ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5508T>G (p.Asn1836Lys) (rs80358774)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130155 SCV000184990 likely benign Hereditary cancer-predisposing syndrome 2017-05-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000083119 SCV000146629 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000130155 SCV000688929 likely benign Hereditary cancer-predisposing syndrome 2017-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000431724 SCV000515743 likely benign not specified 2016-07-18 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.
Invitae RCV000044675 SCV000072688 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-04 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083119 SCV000115193 likely benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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