ClinVar Miner

Submissions for variant NM_001282684.2(KCTD17):c.791G>A (p.Arg264His)

gnomAD frequency: 0.00432  dbSNP: rs146127576
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000873663 SCV001015697 benign Myoclonic dystonia 26 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001776069 SCV002013083 likely benign not provided 2024-08-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV001776069 SCV005206399 likely benign not provided criteria provided, single submitter not provided

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.