ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.1084C>A (p.Arg362=) (rs397516885)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459305 SCV000563667 likely benign Rasopathy 2016-09-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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).

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