ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.141A>G (p.Glu47=)

gnomAD frequency: 0.00001  dbSNP: rs776280224
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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 RCV001506323 SCV001711244 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2023-12-13 criteria provided, single submitter clinical testing

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