ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.858G>A (p.Glu286=)

gnomAD frequency: 0.00001  dbSNP: rs376715568
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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 RCV000944264 SCV001090230 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2023-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272172 SCV001453867 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-01-24 no assertion criteria provided clinical testing

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