ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1184-47A>C

gnomAD frequency: 0.51704  dbSNP: rs2287387
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244410 SCV000311977 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000833474 SCV000975237 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001789303 SCV002031793 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789304 SCV002031794 benign Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789305 SCV002031795 benign Autosomal recessive limb-girdle muscular dystrophy type 2N 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000833474 SCV005295101 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.