ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.279A>G (p.Gln93=)

dbSNP: rs150050723
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551995 SCV000659077 likely benign RASopathy 2023-09-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001269260 SCV001448590 likely benign not specified 2020-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438502 SCV002747967 likely benign Cardiovascular phenotype 2020-11-08 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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