ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.414A>G (p.Leu138=)

dbSNP: rs1597896509
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000938921 SCV001084750 likely benign Hereditary breast ovarian cancer syndrome 2023-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332924 SCV002629402 likely benign Hereditary cancer-predisposing syndrome 2020-11-10 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.

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