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
34 13 1661 1047 298 2 2496

Condition and significance breakdown #

Total conditions: 13
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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 2 5 865 446 178 0 1496
not provided 19 8 1049 331 100 0 1399
not specified 0 0 62 456 170 0 561
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
Limb-girdle muscular dystrophy, type 2Q 1 0 7 0 0 1 9
Epidermolysis bullosa simplex with muscular dystrophy 7 0 0 0 1 0 8
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 with nail dystrophy 2 0 0 0 0 0 2
Epidermolysis bullosa simplex, Ogna type 1 0 1 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

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 4 865 680 182 0 1733
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 86 60 60 0 206
Genetic Services Laboratory, University of Chicago 0 0 15 92 2 0 109
CeGaT Praxis fuer Humangenetik Tuebingen 1 3 87 12 0 0 103
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
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
Cincinnati Children's Hospital Medical Center 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, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 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 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
Department of Molecular Biology and Genetics,Istanbul Technical University 1 0 0 0 0 0 1

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