ClinVar Miner

Variants in gene COL7A1

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Minimum submission review status: Collection method:
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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
720 424 1704 3249 169 13 5649

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 558 213 1089 3185 154 1 5099
Epidermolysis bullosa dystrophica 156 20 240 71 43 2 504
Inborn genetic diseases 4 0 239 19 0 0 262
Recessive dystrophic epidermolysis bullosa 129 72 62 4 3 0 258
not specified 0 0 171 51 16 0 233
Epidermolysis bullosa dystrophica inversa, autosomal recessive 19 3 146 35 24 0 227
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
COL7A1-related disorder 45 16 31 61 10 0 162
Generalized dominant dystrophic epidermolysis bullosa 30 12 7 6 4 7 63
Transient bullous dermolysis of the newborn 14 11 0 0 0 0 25
Epidermolysis bullosa pruriginosa 11 4 6 0 0 0 21
Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa 7 4 4 0 0 0 15
Pretibial dystrophic epidermolysis bullosa 8 0 1 0 0 0 9
Epidermolysis bullosa pruriginosa, autosomal recessive 5 0 0 0 0 0 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 3 1 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
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
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Epidermolysis bullosa pruriginosa 0 3 0 0 0 0 3
Abnormality of the skin; Nail dystrophy; Skin erosion 2 0 0 0 0 0 2
Anonychia 2 0 0 0 0 0 2
COL7A1-related epidermolysis bullosa 0 0 2 0 0 0 2
Hepatoblastoma 0 1 1 0 0 0 2
Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa dystrophica 0 0 0 0 0 2 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
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
Palmoplantar blistering; Skin fragility with non-scarring blistering 0 0 1 0 0 0 1
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 94
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 467 186 1017 3160 132 0 4962
Natera, Inc. 45 12 206 95 58 0 416
GeneDx 192 14 43 9 35 0 293
Ambry Genetics 4 0 239 19 0 0 262
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 29 15 165 39 4 0 252
Illumina Laboratory Services, Illumina 4 3 193 19 25 0 244
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
Breakthrough Genomics, Breakthrough Genomics 1 0 9 26 35 0 71
CeGaT Center for Human Genetics Tuebingen 9 4 17 34 1 0 65
Neuberg Centre For Genomic Medicine, NCGM 11 17 17 0 0 0 45
OMIM 44 0 0 0 0 0 44
Department of Pathology and Laboratory Medicine, Sinai Health System 3 1 25 3 1 0 33
3billion 14 6 7 0 0 0 27
Mendelics 11 9 5 0 0 0 25
Revvity Omics, Revvity 9 9 5 0 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 3 2 0 0 0 19
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 6 12 0 0 0 18
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 10 5 2 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
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 5 3 2 0 0 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 3 3 3 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 2 6 0 0 9
Baylor Genetics 2 2 4 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 Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 6 0 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 4 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 2 4 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 3 1 0 0 0 5
Gansu Province Medical Genetics Center 5 0 0 0 0 0 5
Narges Medical Genetic and Prenatal Diagnosis Lab 2 3 0 0 0 0 5
Eurofins Ntd Llc (ga) 2 0 1 1 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 0 1 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 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
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
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 1 0 0 0 4
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 2 1 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 3 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 1 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 0 2 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 0 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 1 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 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
Arcensus 0 2 0 0 0 0 2
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 1 0 0 0 0 2
Athena Diagnostics 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 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
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Medical Genetics, Medical University Pleven 0 1 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 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
Institute of Human Genetics, University Hospital Muenster 1 0 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
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 0 1

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