ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.2082A>G (p.Ala694=)

gnomAD frequency: 0.00001  dbSNP: rs375174370
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780967 SCV000918665 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001402745 SCV001604597 likely benign RASopathy 2018-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422671 SCV002726835 likely benign Cardiovascular phenotype 2021-03-26 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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