ClinVar Miner

Submissions for variant NM_015602.4(TOR1AIP1):c.531_532insTCA (p.Val177_Arg178insSer)

gnomAD frequency: 0.00041  dbSNP: rs145521179
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 RCV000549178 SCV000656815 benign Autosomal recessive limb-girdle muscular dystrophy type 2Y 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001561359 SCV001783950 likely benign not provided 2019-02-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000549178 SCV004178546 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2Y 2023-04-11 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.