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
164 33 127 200 62 2 532

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 117 14 8 186 53 1 370
Dystrophic epidermolysis bullosa 6 3 109 4 3 0 125
Recessive dystrophic epidermolysis bullosa 33 8 1 0 2 0 44
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 3 0 0 0 12
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 dystrophica, AD, Epidermolysis bullosa dystrophica, AR 1 2 0 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
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
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: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 6 0 184 53 0 256
GeneDx 112 7 4 5 3 0 131
Illumina Clinical Services Laboratory,Illumina 4 3 109 4 3 0 123
OMIM 45 0 0 0 0 0 45
PreventionGenetics,PreventionGenetics 0 0 0 7 7 0 14
Fulgent Genetics,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
Baylor Genetics 1 0 2 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 2 0 0 0 0 3
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 0 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
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
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 1 0 0 0 2
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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 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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