ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3485C>T (p.Ala1162Val) (rs587778122)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV000773046 SCV000906439 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000773046 SCV001181891 likely benign Hereditary cancer-predisposing syndrome 2019-01-21 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
GeneDx RCV001556658 SCV001778276 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Identified in 1/43 healthy African individuals under age 50 undergoing whole genome sequencing (Bodian 2014); This variant is associated with the following publications: (PMID: 24728327)
ITMI RCV000120325 SCV000084477 not provided not specified 2013-09-19 no assertion provided reference population

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