ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.528T>C (p.Tyr176=)

dbSNP: rs112508527
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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 RCV000872904 SCV001014795 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2024-12-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711340 SCV005261375 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000872904 SCV001467215 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2020-08-25 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003908289 SCV004731642 likely benign HMGCL-related disorder 2019-04-12 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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