ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.579C>G (p.Tyr193Ter)

dbSNP: rs1203921376
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
Hadassah Hebrew University Medical Center RCV000991390 SCV001142785 likely pathogenic Osteopetrosis with renal tubular acidosis 2019-06-20 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274114 SCV002558937 likely pathogenic Neurodevelopmental delay 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.