ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.453C>T (p.Asp151=)

gnomAD frequency: 0.00003  dbSNP: rs148943423
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 RCV000876607 SCV001019200 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2024-03-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000876607 SCV001467217 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2020-09-16 no assertion criteria provided clinical testing

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