ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.309C>T (p.His103=)

gnomAD frequency: 0.00001  dbSNP: rs1057520880
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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 RCV001445256 SCV001648282 likely benign RASopathy 2023-09-06 criteria provided, single submitter clinical testing
GeneDx RCV001568896 SCV001792849 likely benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322473 SCV002608198 likely benign Cardiovascular phenotype 2022-02-10 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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