ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3588C>T (p.Asp1196=)

gnomAD frequency: 0.00061  dbSNP: rs377059744
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
Eurofins Ntd Llc (ga) RCV000512702 SCV000335524 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000512702 SCV000609330 likely benign not provided 2020-08-01 criteria provided, single submitter clinical testing
Invitae RCV001086751 SCV000650249 likely benign Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2023-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000512702 SCV000722152 likely benign not provided 2021-06-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000512702 SCV001145075 likely benign not provided 2019-05-23 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.