ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.393A>G (p.Ser131=)

gnomAD frequency: 0.00290  dbSNP: rs56218308
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703699 SCV000522277 benign not provided 2020-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000536522 SCV000631962 benign Deficiency of hydroxymethylglutaryl-CoA lyase 2025-01-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000536522 SCV004172283 benign Deficiency of hydroxymethylglutaryl-CoA lyase 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703699 SCV005092852 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing HMGCL: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001703699 SCV005282082 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001833534 SCV002094163 likely benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2019-12-04 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.