ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.192C>T (p.Tyr64=)

dbSNP: rs2133990881
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001459048 SCV001662881 likely benign Costello syndrome 2023-09-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282553 SCV002571810 likely benign not specified 2022-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004995846 SCV005600168 likely benign Cardiovascular phenotype 2024-07-11 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.
PreventionGenetics, part of Exact Sciences RCV003965911 SCV004786062 likely benign HRAS-related disorder 2023-05-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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