ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.594C>T (p.Tyr198=)

gnomAD frequency: 0.00006  dbSNP: rs139799938
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000378120 SCV000356638 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000378120 SCV001081486 benign Deficiency of hydroxymethylglutaryl-CoA lyase 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273181 SCV001455887 benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2019-10-28 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.