ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4155A>G (p.Leu1385=)

dbSNP: rs1057520245
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444950 SCV000512305 likely benign not specified 2016-09-16 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.
Ambry Genetics RCV000569961 SCV000664801 likely benign Hereditary cancer-predisposing syndrome 2016-01-27 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.
Color Diagnostics, LLC DBA Color Health RCV000569961 SCV001352066 likely benign Hereditary cancer-predisposing syndrome 2019-09-09 criteria provided, single submitter clinical testing
Invitae RCV001414864 SCV001617007 likely benign Hereditary breast ovarian cancer syndrome 2023-12-05 criteria provided, single submitter clinical testing

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