ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.735C>A (p.Thr245=)

gnomAD frequency: 0.00001  dbSNP: rs202074025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871945 SCV001013687 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2024-01-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000871945 SCV001459891 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003948177 SCV004766683 likely benign HMGCL-related disorder 2019-07-08 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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