ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1898+29G>T

gnomAD frequency: 0.02917  dbSNP: rs76084798
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250005 SCV000317287 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001636844 SCV001849022 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259750 SCV002539209 benign Gnathodiaphyseal dysplasia 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259752 SCV002539210 benign Miyoshi muscular dystrophy 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259751 SCV002539211 benign Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 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.