ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)

gnomAD frequency: 0.00064  dbSNP: rs370569372
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724193 SCV000229512 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV000545545 SCV000650308 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 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000724193 SCV000716222 likely benign not provided 2020-04-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32707200)
Athena Diagnostics Inc RCV000724193 SCV001475291 likely benign not provided 2019-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724193 SCV004163524 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PLEC: BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000724193 SCV001743632 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000724193 SCV001806985 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000724193 SCV001921918 uncertain significance not provided 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.