ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.63G>A (p.Val21=)

gnomAD frequency: 0.00003  dbSNP: rs377377296
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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 RCV000220108 SCV000270780 likely benign not specified 2016-01-26 criteria provided, single submitter clinical testing p.Val21Val in exon 2 of RAF1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 2/10406 African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs377377296).
Labcorp Genetics (formerly Invitae), Labcorp RCV002057141 SCV002400779 likely benign RASopathy 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363064 SCV002658860 likely benign Cardiovascular phenotype 2018-11-01 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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