ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr)

gnomAD frequency: 0.00401  dbSNP: rs62641756
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
Eurofins Ntd Llc (ga) RCV000078891 SCV000334816 benign not specified 2015-09-15 criteria provided, single submitter clinical testing
GeneDx RCV001711187 SCV000526791 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000078891 SCV000614652 likely benign not specified 2016-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000542065 SCV000650388 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 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711187 SCV004163500 benign not provided 2024-07-01 criteria provided, single submitter clinical testing PLEC: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001711187 SCV005222309 likely 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.