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
112 63 200 864 188 2 1344

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 80 40 39 837 183 0 1164
Junctional epidermolysis bullosa, non-Herlitz type 7 7 102 24 38 0 178
Inborn genetic diseases 1 0 64 2 0 0 67
COL17A1-related condition 2 2 1 23 9 0 37
Epithelial recurrent erosion dystrophy 5 2 3 0 14 0 24
Epidermolysis bullosa, junctional 4, intermediate 17 6 0 0 0 0 23
not specified 0 0 3 2 14 0 19
Amelogenesis imperfecta type 1A 9 6 2 0 0 0 17
Junctional epidermolysis bullosa 8 3 3 1 1 1 17
Amelogenesis imperfecta 3 0 0 0 0 0 3
Epithelial recurrent erosion dystrophy; Epidermolysis bullosa, junctional 4, intermediate 0 0 1 2 0 0 3
See cases 1 1 0 0 0 0 2
Abnormality of the skin 0 1 0 0 0 0 1
Anonychia; Failure to thrive; Constipation; Abnormality of the dentition; Abnormality of the skin; Pterygium of nails; Sparse scalp hair; Discolored lateral incisors; Abnormal blistering of the skin; Nail dystrophy; Abnormal skin morphology; Generalized abnormality of skin; Irregular dentition; Hyperkeratotic papule 1 0 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

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 67 34 32 825 73 0 1031
Illumina Laboratory Services, Illumina 1 1 104 25 35 0 166
GeneDx 16 5 6 6 128 0 161
Ambry Genetics 1 0 64 2 0 0 67
PreventionGenetics, part of Exact Sciences 2 2 1 23 23 0 51
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 0 7 1 0 8
Biomedical Innovation Departament, CIEMAT 8 0 0 0 0 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 6 0 0 0 0 6
Revvity Omics, Revvity 2 1 2 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 3 1 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
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 0 3
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 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
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
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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