ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1124C>T (p.Pro375Leu) (rs80358409)

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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 RCV000219251 SCV000273170 likely benign Hereditary cancer-predisposing syndrome 2015-07-16 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077250 SCV000145816 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000219251 SCV000911092 benign Hereditary cancer-predisposing syndrome 2016-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000423315 SCV000521633 likely benign not specified 2017-06-14 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 RCV000043741 SCV000071754 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077250 SCV000109047 likely benign Breast-ovarian cancer, familial 2 2010-07-21 no assertion criteria provided clinical testing

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