ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.145-8C>T

gnomAD frequency: 0.00016  dbSNP: rs369286537
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704547 SCV000535343 likely benign not provided 2018-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000634903 SCV000756273 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000634903 SCV004172747 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925297 SCV004739333 likely benign HMGCL-related disorder 2019-09-09 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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