ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.801C>T (p.Asp267=)

gnomAD frequency: 0.00017  dbSNP: rs202218097
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
GeneDx RCV001720230 SCV000526298 likely benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000444186 SCV000614661 benign not specified 2016-09-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000444186 SCV000701001 likely benign not specified 2016-09-29 criteria provided, single submitter clinical testing
Invitae RCV000648648 SCV000770468 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 2024-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488928 SCV002800577 likely benign Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; 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 2022-01-18 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.