ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.349-10A>T

gnomAD frequency: 0.00001  dbSNP: rs755304948
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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 RCV000926043 SCV001071600 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2024-02-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895633 SCV004709410 likely benign HMGCL-related disorder 2022-10-14 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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