ClinVar Miner

Variants in gene PLEC

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Gene type:

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
115 57 4261 2692 368 87 6593

Condition and significance breakdown #

Total conditions: 55
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
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 77 13 3178 2165 245 0 5678
not provided 22 23 1933 616 199 0 2488
Inborn genetic diseases 0 0 1165 51 0 0 1216
not specified 0 0 111 417 225 0 611
PLEC-related disorder 0 1 94 242 22 0 359
Autosomal recessive limb-girdle muscular dystrophy type 2Q 1 2 39 2 40 1 85
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; 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 0 0 60 15 0 0 75
Epidermolysis bullosa simplex with nail dystrophy 7 5 10 0 39 0 61
Epidermolysis bullosa simplex 5B, with muscular dystrophy 10 2 3 1 40 0 56
Epidermolysis bullosa simplex 5C, with pyloric atresia 7 0 6 1 39 0 53
Epidermolysis bullosa simplex, Ogna type 1 0 7 0 40 1 48
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 16 16
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 0 0 0 0 0 10 10
Gastric cancer 0 0 0 0 0 9 9
Ovarian serous cystadenocarcinoma 0 0 0 0 0 9 9
Multiple sclerosis 0 8 0 0 0 0 8
Uterine corpus endometrial carcinoma 0 0 0 0 0 8 8
Cervical cancer 0 0 0 0 0 7 7
Malignant tumor of esophagus 0 0 0 0 0 7 7
Arrhythmogenic right ventricular dysplasia 1 0 0 2 4 0 0 6
Autosomal recessive limb-girdle muscular dystrophy 0 0 6 0 0 0 6
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 1 0 0 5 6
See cases 0 0 3 2 0 0 5
Thymoma 0 0 0 0 0 5 5
Acute myeloid leukemia 0 0 0 0 0 4 4
Epidermolysis bullosa simplex 3 0 1 0 0 0 4
Hepatocellular carcinoma 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 4 4
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Abnormality of the musculature 0 3 0 0 0 0 3
Cholangiocarcinoma 0 0 0 0 0 3 3
Ovarian cancer 0 0 0 0 0 3 3
Sarcoma 0 0 0 0 0 3 3
Uterine carcinosarcoma 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
PLEC-related epidermolysis bullosa 0 0 2 0 0 0 2
Primary dilated cardiomyopathy 0 0 2 0 0 0 2
Abnormality of the skin 0 1 0 0 0 0 1
Cholestasis 0 0 1 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Epidermolysis bullosa simplex 1A, generalized severe 1 0 0 0 0 0 1
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 0 0 0 1 1
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 0 0 0 1 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Fetal anomalies with a likely genetic cause 0 0 1 0 0 0 1
Junctional epidermolysis bullosa with pyloric atresia 1 0 0 0 0 0 1
Myopathy 1 0 0 0 0 0 1
Neuromuscular disease caused by qualitative or quantitative defects of plectin 0 1 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Simplex epidermolysis bullosa_Ogna type 1 0 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 77 12 3176 2184 245 0 5694
Ambry Genetics 0 0 1165 51 0 0 1216
Revvity Omics, Revvity 6 13 1031 49 6 0 1105
Eurofins Ntd Llc (ga) 7 0 890 59 121 0 1077
GeneDx 9 6 214 498 185 0 912
CeGaT Center for Human Genetics Tuebingen 0 5 171 257 14 0 447
Athena Diagnostics 0 0 190 87 145 0 422
PreventionGenetics, part of Exact Sciences 0 0 94 258 65 0 417
Mayo Clinic Laboratories, Mayo Clinic 0 0 105 69 125 0 299
Breakthrough Genomics, Breakthrough Genomics 0 0 40 74 120 0 234
Genetic Services Laboratory, University of Chicago 0 0 20 95 3 0 118
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 57 50 0 0 109
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 5 4 64 0 73
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 68 68
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 55 2 0 0 57
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 7 42 2 0 51
Fulgent Genetics, Fulgent Genetics 0 0 32 15 0 0 47
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 10 25 4 0 39
Genome-Nilou Lab 0 0 0 0 39 0 39
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 7 13 5 0 26
Baylor Genetics 0 0 19 0 0 0 19
Clinical Genetics, Academic Medical Center 0 0 2 5 11 0 18
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 9 5 0 15
OMIM 14 0 0 0 0 0 14
Neuberg Centre For Genomic Medicine, NCGM 0 2 11 0 0 0 13
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 12 12
Department of Molecular Biology and Genetics, Acibadem University 1 8 0 0 0 0 9
Kariminejad - Najmabadi Pathology & Genetics Center 1 4 3 0 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 6 1 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 4 0 0 7
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 4 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 6 0 0 0 6
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 3 3 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 2 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 5 0 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 5 0 0 5
Biomedical Innovation Departament, CIEMAT 4 0 0 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 4 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 4 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 2 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 1 0 3 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 1 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Palindrome, Gene Kavoshgaran Aria 3 0 0 0 0 0 3
3billion 2 0 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 2
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 2 0 0 0 2
Dasa 1 0 0 0 1 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Illumina Laboratory Services, Illumina 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 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
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Mendelics 0 0 1 0 1 0 2
Variantyx, Inc. 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 0 0 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
GeneReviews 0 0 0 0 0 1 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 0 1 0 0 0 1
Pio d'adamo Lab, University Of Trieste 0 0 1 0 0 0 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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