ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.2229T>C (p.Phe743=)

gnomAD frequency: 0.00001  dbSNP: rs397516901
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037946 SCV000061611 likely benign not specified 2012-06-06 criteria provided, single submitter clinical testing Phe743Phe in exon 18 of BRAF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and it is not located w ithin the splice consensus sequence.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037946 SCV001360819 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054683 SCV002479279 likely benign RASopathy 2023-02-06 criteria provided, single submitter clinical testing

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