ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.96C>T (p.Tyr32=)

dbSNP: rs369039481
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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 RCV000637312 SCV000758763 likely benign Costello syndrome 2023-12-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781470 SCV000919527 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
GeneDx RCV001564192 SCV001787315 likely benign not provided 2019-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386025 SCV002695192 likely benign Cardiovascular phenotype 2019-05-16 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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