ClinVar Miner

Submissions for variant NM_152305.3(POGLUT1):c.456+39G>T

gnomAD frequency: 0.59158  dbSNP: rs3732419
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001619441 SCV001847583 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789453 SCV002031609 benign Autosomal recessive limb-girdle muscular dystrophy type 2R1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789452 SCV002031610 benign Dowling-Degos disease 4 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619441 SCV005301221 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.