ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)

gnomAD frequency: 0.00003  dbSNP: rs375420073
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000648197 SCV000770011 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763937 SCV000894882 uncertain significance Muscle eye brain disease; Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Retinitis pigmentosa 76 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003129788 SCV003811741 uncertain significance not provided 2020-11-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272275 SCV001454109 uncertain significance Muscle eye brain disease 2020-01-17 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.