ClinVar Miner

Variants in gene PLEC

Minimum submission review status: Collection method:
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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
41 13 2132 1182 313 2 3071

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Epidermolysis bullosa simplex with 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 9 4 1423 657 178 0 2271
not provided 19 9 1068 362 100 0 1436
not specified 0 0 62 455 195 0 570
Limb-girdle muscular dystrophy, type 2Q 1 0 20 0 0 1 22
Epidermolysis bullosa simplex with 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
Epidermolysis bullosa simplex with muscular dystrophy 7 0 3 1 1 0 12
Epidermolysis bullosa simplex with pyloric atresia 4 0 4 0 0 0 8
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 2 4 0 0 6
Epidermolysis bullosa simplex with nail dystrophy 2 0 4 0 0 0 6
Inborn genetic diseases 0 0 6 0 0 0 6
Epidermolysis bullosa simplex, Ogna type 1 0 2 0 1 0 4
Epidermolysis bullosa simplex 3 0 0 0 0 0 3
PLEC-related epidermolysis bullosa 0 0 2 0 0 0 2
Epidermolysis bullosa junctionalis with pyloric atresia 1 0 0 0 0 0 1
Epidermolysis bullosa simplex with 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
Simplex epidermolysis bullosa_Ogna type 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 9 3 1423 824 182 0 2441
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 7 0 901 59 121 0 1088
GeneDx 10 5 89 383 128 0 615
Athena Diagnostics Inc 0 0 104 78 114 0 296
CeGaT Praxis fuer Humangenetik Tuebingen 1 4 90 23 0 0 118
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, PreventionGenetics 0 0 0 16 43 0 59
OMIM 14 0 0 0 0 0 14
Baylor Genetics 0 0 14 0 0 0 14
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 12 2 0 0 14
Fulgent Genetics,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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 6 0 0 0 6
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
Biomedical Innovation Departament, CIEMAT 4 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 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
Mendelics 0 0 0 0 1 0 1
GeneReviews 1 0 0 0 0 0 1
Mayo Clinic 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
Department of Molecular Biology and Genetics,Istanbul Technical University 1 0 0 0 0 0 1

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