ClinVar Miner

Variants in gene COL7A1

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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
763 558 2104 3362 171 76 6279

Condition and significance breakdown #

Total conditions: 65
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 579 233 1257 3288 156 1 5395
Epidermolysis bullosa dystrophica 227 161 409 72 43 2 883
Inborn genetic diseases 5 0 386 27 0 0 418
not specified 0 0 248 73 21 0 337
Recessive dystrophic epidermolysis bullosa 148 97 64 4 3 0 299
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa 62 119 39 7 2 0 226
Epidermolysis bullosa dystrophica inversa, autosomal recessive 8 1 145 35 24 0 213
COL7A1-related disorder 47 19 31 61 10 0 166
Generalized dominant dystrophic epidermolysis bullosa 30 14 7 6 4 7 65
Transient bullous dermolysis of the newborn 14 12 0 0 0 0 26
Epidermolysis bullosa pruriginosa 11 6 7 0 0 0 24
Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa 7 4 4 0 0 0 15
Cervical cancer 0 0 0 0 0 10 10
Pretibial dystrophic epidermolysis bullosa 9 0 1 0 0 0 10
Ovarian serous cystadenocarcinoma 0 0 0 0 0 9 9
Epidermolysis bullosa simplex 1A, generalized severe 7 0 0 0 0 0 7
Malignant tumor of esophagus 0 0 0 0 0 7 7
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa 2 5 0 0 0 0 7
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 7 7
Epidermolysis bullosa 5 1 0 0 0 0 6
Malignant tumor of urinary bladder 0 0 0 0 0 6 6
Epidermolysis bullosa pruriginosa, autosomal recessive 5 0 0 0 0 0 5
Gastric cancer 0 0 0 0 0 5 5
Lung cancer 0 0 0 0 0 5 5
Nonsyndromic congenital nail disorder 8 5 0 0 0 0 0 5
Abnormality of the skin 2 2 0 0 0 0 4
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant 4 0 0 0 0 0 4
Epidermolysis bullosa pruriginosa, autosomal dominant 4 0 0 0 0 0 4
Familial pancreatic carcinoma 0 0 0 0 0 4 4
Sarcoma 0 0 0 0 0 4 4
See cases 2 1 1 0 0 0 4
Abnormal blistering of the skin 2 0 1 0 0 0 3
Amelogenesis imperfecta type 1 0 0 3 0 0 0 3
Dominant dystrophic epidermolysis bullosa with absence of skin 2 0 0 0 0 1 3
Epidermolysis bullosa, pretibial, autosomal recessive 3 0 0 0 0 0 3
Familial cancer of breast 0 0 0 0 0 3 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Ovarian cancer 0 0 0 0 0 3 3
Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa dystrophica 0 0 0 0 0 3 3
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Epidermolysis bullosa pruriginosa 0 3 0 0 0 0 3
Squamous cell carcinoma of the head and neck 0 0 0 0 0 3 3
Abnormality of the skin; Nail dystrophy; Skin erosion 2 0 0 0 0 0 2
COL7A1-related epidermolysis bullosa 0 0 2 0 0 0 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Colorectal cancer 0 0 0 0 0 2 2
Hepatoblastoma 0 1 1 0 0 0 2
Nonsyndromic congenital nail disorder 4 2 0 0 0 0 0 2
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8 1 1 0 0 0 0 2
Short stature; Failure to thrive; Abnormality of the dentition; Microcephaly; Abnormal dental enamel morphology; Hyperpigmentation of the skin; Alopecia of scalp; Distal muscle weakness; EMG abnormality; Decreased body weight; Scarring alopecia of scalp; Abnormal blistering of the skin; Nail dystrophy; Scarring 2 0 0 0 0 0 2
Short stature; Toe syndactyly; Finger syndactyly; Palmoplantar blistering 1 1 0 0 0 0 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 1 1
Duane retraction syndrome 0 0 1 0 0 0 1
Epidermolytic ichthyosis; Epidermal nevus; Ichthyosis; Abnormality of the thyroid gland 0 1 0 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Palmoplantar blistering; Skin fragility with non-scarring blistering 0 0 1 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Epidermolysis bullosa dystrophica; Generalized dominant dystrophic epidermolysis bullosa 0 1 0 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 107
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 487 197 1172 3259 134 0 5249
Natera, Inc. 133 152 377 97 58 0 817
Ambry Genetics 5 0 386 27 0 0 418
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 36 28 242 59 4 0 369
GeneDx 195 17 53 10 35 0 310
Illumina Laboratory Services, Illumina 4 3 190 18 25 0 240
Fulgent Genetics, Fulgent Genetics 60 116 36 7 2 0 221
PreventionGenetics, part of Exact Sciences 36 12 31 68 17 0 164
Biomedical Innovation Departament, CIEMAT 130 1 1 1 0 0 133
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires 71 14 10 0 0 0 95
CeGaT Center for Human Genetics Tuebingen 10 4 20 38 1 0 73
Breakthrough Genomics, Breakthrough Genomics 1 0 9 26 35 0 71
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 62 62
Neuberg Centre For Genomic Medicine, NCGM 11 17 17 0 0 0 45
OMIM 44 0 0 0 0 0 44
Revvity Omics, Revvity 16 18 6 0 0 0 40
3billion 21 8 9 0 0 0 38
Department of Pathology and Laboratory Medicine, Sinai Health System 3 1 25 3 1 0 33
Mendelics 13 9 5 0 0 0 27
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 8 12 1 0 0 23
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 13 0 0 2 8 0 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 11 1 3 2 5 0 22
Mayo Clinic Laboratories, Mayo Clinic 0 0 10 4 8 0 22
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 15 4 2 0 0 0 21
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 10 5 2 0 0 0 17
Myriad Genetics, Inc. 10 7 0 0 0 0 17
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 2 9 5 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 7 2 5 0 0 0 14
Juno Genomics, Hangzhou Juno Genomics, Inc 4 4 3 0 0 0 11
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 5 3 2 0 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 6 0 0 9
Dasa 8 1 0 0 0 0 9
Baylor Genetics 2 2 4 0 0 0 7
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 7 0 0 0 0 0 7
GeneReviews 0 0 0 0 0 7 7
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 1 4 0 0 0 7
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 5 0 0 0 0 7
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 1 6 0 0 0 0 7
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 4 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 1 1 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 2 4 0 0 0 0 6
Gansu Province Medical Genetics Center 5 0 0 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 3 1 0 0 0 5
Narges Medical Genetic and Prenatal Diagnosis Lab 2 3 0 0 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 1 0 0 0 4
Eurofins Ntd Llc (ga) 2 0 1 1 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 0 1 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 0 0 0 0 4
Kariminejad - Najmabadi Pathology & Genetics Center 2 2 0 0 0 0 4
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 3 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 3 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg 0 0 3 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 0 0 0 3
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 2 1 0 0 0 3
Arcensus 0 2 0 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 0 2 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 1 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 0 0 0 0 2
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 1 0 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 1 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 0 0 2
Medical Genetics, Medical University Pleven 1 1 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 2 0 0 0 0 2
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 1 1 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 0 2 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Athena Diagnostics 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Department of Medical Genetics, College of Basic Medicine, Army Medical University 1 0 0 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 Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 1 0 0 1
Group of Genodermatoses Investigation, Pirogov Russian National Research Medical University 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Otogenetics 0 1 0 0 0 0 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1

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