ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1605-8C>T

gnomAD frequency: 0.00007  dbSNP: rs535331969
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000956345 SCV001103106 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277593 SCV001464555 likely benign Muscle eye brain disease 2020-11-10 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.