ClinVar Miner

Variants in gene PLEC

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
29 12 1327 621 229 2 1837

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 14 8 989 25 24 0 1046
Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 1 4 458 229 153 0 845
not specified 0 0 67 457 170 0 564
Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa junctionalis with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 0 0 13 0 0 0 13
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 7 0 0 0 0 0 7
Limb-girdle muscular dystrophy, type 2Q 1 0 5 0 0 1 7
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 2 4 0 0 6
Inborn genetic diseases 0 0 6 0 0 0 6
Epidermolysis bullosa simplex with pyloric atresia 4 0 0 0 0 0 4
Epidermolysis bullosa simplex, Ogna type 1 0 1 0 0 0 2
Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q 0 0 0 0 0 1 1
Epidermolysis bullosa junctionalis with pyloric atresia 1 0 0 0 0 0 1
Epidermolysis bullosa simplex with nail dystrophy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 0 901 59 121 0 1088
Invitae 1 3 458 229 153 0 844
GeneDx 6 5 89 334 82 0 516
Athena Diagnostics Inc 0 0 65 46 33 0 144
Genetic Services Laboratory, University of Chicago 0 0 15 92 2 0 109
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 5 4 64 0 73
PreventionGenetics 0 0 0 16 43 0 59
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 26 2 0 0 31
OMIM 14 0 0 0 0 0 14
Fulgent Genetics 0 0 13 0 0 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 6 1 0 7
Ambry Genetics 0 0 6 0 0 0 6
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 2 4 0 0 6
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Ege University Pediatric Genetics,Ege University 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
GeneReviews 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 1

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.