ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.900G>A (p.Arg300=)

gnomAD frequency: 0.00232  dbSNP: rs146019354
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871467 SCV001013132 benign Holocarboxylase synthetase deficiency 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001672973 SCV001884366 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001672973 SCV004153627 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing HLCS: BP4, BP7, BS2
Natera, Inc. RCV000871467 SCV001461054 benign Holocarboxylase synthetase deficiency 2020-09-16 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.