ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.765C>T (p.Val255=)

dbSNP: rs778296169
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 RCV001280064 SCV001614788 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2024-12-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280064 SCV001467211 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2020-10-26 no assertion criteria provided clinical testing

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