ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.30G>A (p.Arg10=)

gnomAD frequency: 0.00001  dbSNP: rs1284448239
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001434187 SCV001636990 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2023-09-21 criteria provided, single submitter clinical testing

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