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
364 87 418 856 110 6 1619

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 216 61 62 832 100 1 1242
Dystrophic epidermolysis bullosa 136 6 226 26 27 2 410
Epidermolysis bullosa dystrophica inversa, autosomal recessive 19 3 146 35 24 0 227
Recessive dystrophic epidermolysis bullosa 44 12 5 1 2 0 64
not specified 0 0 2 11 15 0 26
Generalized dominant dystrophic epidermolysis bullosa 10 1 2 6 4 0 22
Epidermolysis bullosa pruriginosa 7 2 3 0 0 0 12
Recessive dystrophic epidermolysis bullosa; Pretibial epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nail disorder, nonsyndromic congenital, 8; Generalized dominant dystrophic epidermolysis bullosa 8 1 3 0 0 0 12
Epidermolysis bullosa pruriginosa, autosomal recessive 5 0 0 0 0 0 5
Inborn genetic diseases 4 0 1 0 0 0 5
Transient bullous dermolysis of the newborn 5 0 0 0 0 0 5
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
Nail disorder, nonsyndromic congenital, 8 4 0 0 0 0 0 4
Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa 0 1 3 0 0 0 4
Abnormal blistering of the skin 2 0 1 0 0 0 3
Epidermolysis bullosa, pretibial, autosomal recessive 3 0 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
Dominant dystrophic epidermolysis bullosa with absence of skin 1 0 0 0 0 1 2
Pretibial epidermolysis bullosa 2 0 0 0 0 0 2
Recessive dystrophic epidermolysis bullosa; Dystrophic epidermolysis bullosa 0 0 0 0 0 2 2
Recessive dystrophic epidermolysis bullosa; Pretibial epidermolysis bullosa; Epidermolysis bullosa pruriginosa 0 1 1 0 0 0 2
Short stature; Failure to thrive; Abnormality of the dentition; Microcephaly; Abnormality of dental enamel; 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
Bullous ichthyosiform erythroderma; Epidermal nevus; Ichthyosis; Abnormality of the thyroid gland 0 1 0 0 0 0 1
COL7A1-related disorders 0 1 0 0 0 0 1
Epidermolysis Bullosa Distrophica Autosomal Recessive (RDEB) 1 0 0 0 0 0 1
Palmoplantar blistering; Skin fragility with non-scarring blistering 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 114 49 40 820 80 0 1103
Natera, Inc. 19 3 181 48 36 0 287
Illumina Clinical Services Laboratory,Illumina 4 3 199 20 25 0 251
GeneDx 143 9 7 10 35 0 204
Biomedical Innovation Departament, CIEMAT 131 1 0 1 0 0 133
OMIM 44 0 0 0 0 0 44
Human Genetics - Radboudumc,Radboudumc 13 0 0 2 8 0 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 11 1 3 3 5 0 23
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 2 9 5 0 16
PreventionGenetics,PreventionGenetics 0 0 0 7 7 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 2 5 0 0 0 14
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 11 0 0 0 11
Fulgent Genetics,Fulgent Genetics 8 1 1 0 0 0 10
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 5 2 2 0 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 3 2 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 4 0 0 0 0 6
Baylor Genetics 1 0 4 0 0 0 5
Ambry Genetics 4 0 1 0 0 0 5
Gansu Province Medical Genetics Center 5 0 0 0 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 2 1 0 0 0 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 1 1 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 2 0 0 0 0 4
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 3 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 1 0 0 0 3
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
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Mendelics 2 0 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 0 2 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Breda Genetics srl 0 0 2 0 0 0 2
Diagnostics Services, CSIR - Centre for Cellular and Molecular Biology 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 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
Nilou-Genome 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

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