ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.855C>T (p.Ser285=)

gnomAD frequency: 0.00001  dbSNP: rs763657486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617692 SCV000736762 likely benign Cardiovascular phenotype 2017-02-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000654978 SCV000776889 likely benign RASopathy 2023-12-15 criteria provided, single submitter clinical testing
GeneDx RCV002285373 SCV002575466 likely benign not provided 2022-09-21 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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