ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1233T>C (p.Asp411=)

dbSNP: rs80357024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759493 SCV000888838 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010470 SCV001170674 likely benign Hereditary cancer-predisposing syndrome 2019-09-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001442456 SCV001645405 likely benign Hereditary breast ovarian cancer syndrome 2023-08-04 criteria provided, single submitter clinical testing

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