ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.762T>C (p.Ser254=)

gnomAD frequency: 0.00001  dbSNP: rs983682054
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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 RCV001457526 SCV001661329 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2023-09-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003973318 SCV004788569 likely benign HMGCL-related disorder 2022-07-08 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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