ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9900A>C (p.Pro3300=)

dbSNP: rs1593201999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985633 SCV001133994 uncertain significance not provided 2019-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019880 SCV001181292 likely benign Hereditary cancer-predisposing syndrome 2019-10-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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