ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.717T>G (p.Gly239=)

gnomAD frequency: 0.00004  dbSNP: rs370708710
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001273180 SCV001636479 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2021-11-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273180 SCV001455885 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2020-04-30 no assertion criteria provided clinical testing

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