ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.297C>T (p.Phe99=)

gnomAD frequency: 0.00008  dbSNP: rs376509458
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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 RCV000654997 SCV000776913 likely benign RASopathy 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440395 SCV002751385 likely benign Cardiovascular phenotype 2021-05-21 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005405255 SCV006067633 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing BP6;BP7

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