ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.357C>T (p.Ile119=)

gnomAD frequency: 0.00029  dbSNP: rs191519805
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310914 SCV001500897 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing MOCS1: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV001474153 SCV001678319 likely benign Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2024-12-17 criteria provided, single submitter 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.