ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.42G>A (p.Val14=)

gnomAD frequency: 0.00005  dbSNP: rs777038147
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247431 SCV000311013 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000462480 SCV000560889 likely benign Costello syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001597013 SCV001831620 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000247431 SCV001983594 likely benign not specified 2021-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328743 SCV002631102 likely benign Cardiovascular phenotype 2019-07-27 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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