ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.825G>A (p.Ser275=)

gnomAD frequency: 0.00002  dbSNP: rs766874330
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
GeneDx RCV000730559 SCV000723758 likely benign not provided 2020-08-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730559 SCV000858306 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing
Invitae RCV001469696 SCV001673780 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-08-10 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.