ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.57G>C (p.Leu19=)

gnomAD frequency: 0.00003  dbSNP: rs761648389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244358 SCV000311015 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000874891 SCV001017125 likely benign Costello syndrome 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356348 SCV002647987 likely benign Cardiovascular phenotype 2022-08-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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