ClinVar Miner

Variants in gene COL7A1

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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
153 23 122 17 10 1 313

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Dystrophic epidermolysis bullosa 6 3 109 4 3 0 125
not provided 108 7 6 1 0 0 122
Recessive dystrophic epidermolysis bullosa 29 8 1 0 2 0 40
not specified 0 0 0 12 10 0 20
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 1 0 0 0 10
Generalized dominant dystrophic epidermolysis bullosa 9 0 0 0 0 0 9
Epidermolysis bullosa dystrophica inversa, autosomal recessive 5 0 0 0 0 0 5
Epidermolysis bullosa pruriginosa, autosomal recessive 5 0 0 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
Inborn genetic diseases 2 0 1 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
Dominant dystrophic epidermolysis bullosa with absence of skin 1 0 0 0 0 1 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
Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR 0 1 0 0 0 0 1
Palmoplantar blistering; Skin fragility with non-scarring blistering 0 0 1 0 0 0 1
Pretibial epidermolysis bullosa 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 108 6 4 4 3 0 125
Illumina Clinical Services Laboratory,Illumina 4 3 109 4 3 0 123
OMIM 45 0 0 0 0 0 45
PreventionGenetics 0 0 0 7 7 0 14
Fulgent Genetics 8 1 1 0 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 2 2 0 0 0 8
Gansu Province Medical Genetics Center 5 0 0 0 0 0 5
Molecular Diagnostics Laboratory,M Health: University of Minnesota 2 3 0 0 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 1 1 0 0 4
Ambry Genetics 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 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
SIB Swiss Institute of Bioinformatics 0 0 0 0 2 0 2
Baylor Miraca Genetics Laboratories, 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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
U714,CIBER of Rare Diseases 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1

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