ClinVar Miner

Variants in gene COL17A1

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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
116 78 323 898 189 2 1512

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 85 41 62 869 186 0 1223
Junctional epidermolysis bullosa, non-Herlitz type 7 7 105 24 38 0 181
Inborn genetic diseases 1 0 152 6 0 0 159
COL17A1-related disorder 4 3 6 27 9 0 49
not specified 0 0 27 2 14 0 43
Epidermolysis bullosa, junctional 4, intermediate 19 11 3 0 0 0 33
Epithelial recurrent erosion dystrophy 6 2 4 0 14 0 26
Epithelial recurrent erosion dystrophy; Epidermolysis bullosa, junctional 4, intermediate 1 18 5 2 0 0 26
Junctional epidermolysis bullosa 9 3 3 1 1 1 18
Amelogenesis imperfecta type 1A 9 6 2 0 0 0 17
Amelogenesis imperfecta 3 0 0 0 0 0 3
Abnormality of the skin 0 1 0 0 0 0 1
Amelogenesis imperfecta - hypoplastic autosomal dominant - local 0 1 0 0 0 0 1
Corneal dystrophy 1 0 0 0 0 0 1
Epithelial recurrent erosion dystrophy; Junctional epidermolysis bullosa, non-Herlitz type; Late-onset junctional epidermolysis bullosa 0 0 0 0 0 1 1
High myopia 0 0 1 0 0 0 1
See cases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 72 35 48 854 74 0 1083
GeneDx 19 5 10 6 128 0 168
Illumina Laboratory Services, Illumina 1 1 101 25 35 0 163
Ambry Genetics 1 0 152 6 0 0 159
Breakthrough Genomics, Breakthrough Genomics 1 0 4 10 73 0 88
PreventionGenetics, part of Exact Sciences 4 3 6 27 23 0 63
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 27 1 0 0 31
Fulgent Genetics, Fulgent Genetics 1 16 3 2 0 0 22
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 14 1 0 0 18
OMIM 17 0 0 0 0 0 17
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 9 6 2 0 0 0 17
Genome-Nilou Lab 0 0 0 0 14 0 14
CeGaT Center for Human Genetics Tuebingen 0 0 2 9 1 0 12
Neuberg Centre For Genomic Medicine, NCGM 0 8 3 0 0 0 11
Biomedical Innovation Departament, CIEMAT 8 0 0 0 0 0 8
Revvity Omics, Revvity 2 1 2 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 1 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 2 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 2 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Mendelics 1 1 0 0 0 0 2
Eurofins Ntd Llc (ga) 1 1 0 0 0 0 2
Dental Genetics Laboratory, Seoul National University School of Dentistry 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Institute of Human Genetics, Polish Academy of Sciences 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Center for Reproductive Medicine, Changhai Hospital, Naval Medical University 0 1 0 0 0 0 1
Department Of Pediatric Dentistry, Peking University School And Hospital Of Stomatology 1 0 0 0 0 0 1

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