ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.348C>T (p.Arg116=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003622377 SCV004553871 likely benign 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2023-05-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003919375 SCV004727761 likely benign HMGCS2-related disorder 2021-04-07 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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