ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.579C>T (p.Leu193=)

dbSNP: rs751223840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001450167 SCV001653767 likely benign RASopathy 2021-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004659247 SCV005163542 likely benign Cardiovascular phenotype 2024-04-13 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.
CeGaT Center for Human Genetics Tuebingen RCV004808935 SCV005433552 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing RAF1: BP4, BP7

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