ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1084C>A (p.Arg362=)

gnomAD frequency: 0.00006  dbSNP: rs397516885
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Total submissions: 5
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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 RCV000037904 SCV000061566 likely benign not specified 2012-02-16 criteria provided, single submitter clinical testing Arg362Arg in exon 8 or BRAF: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, has been identified in 0.03% (1/3738) of African A merican chromosomes from a broad population by the NHLBI Exome Sequencing Projec t (http://evs.gs.washington.edu/EVS/; dbSNP rs149230176).
Invitae RCV001457681 SCV001661485 likely benign RASopathy 2021-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000459305 SCV001903722 benign not provided 2015-04-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813333 SCV002060457 likely benign Noonan syndrome and Noonan-related syndrome 2020-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426564 SCV002731467 likely benign Cardiovascular phenotype 2022-03-21 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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