ClinVar Miner

Variants in gene combination COL5A1, LOC101448202

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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
29 20 189 158 91 2 430

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ehlers-Danlos syndrome, classic type 19 9 120 53 38 1 234
not provided 7 7 58 46 36 0 153
Ehlers-Danlos syndrome, type 7A 0 0 33 36 10 0 79
not specified 0 0 4 44 29 0 75
Cardiovascular phenotype 0 1 9 15 9 0 34
Ehlers-Danlos syndrome, classic type I 4 1 1 0 0 0 6
Connective tissue disease 0 0 2 2 0 0 4
Familial thoracic aortic aneurysm and aortic dissection 0 0 1 1 0 0 2
Abnormal bleeding; Thrombocytopenia 0 0 1 0 0 0 1
Aortic root dilatation 0 0 1 0 0 0 1
Ehlers-Danlos syndrome 0 0 0 0 0 1 1
Ehlers-Danlos syndrome classic type 2 0 1 0 0 0 0 1
Hyperextensible skin; Cigarette-paper scars; Atrophic scars; Joint hypermobility; Large joint dislocations 0 1 0 0 0 0 1
Loeys-Dietz syndrome 0 0 1 0 0 0 1
Marfan syndrome 0 0 1 0 0 0 1
Skeletal dysplasia; Scoliosis; Narrow chest; Abnormality of the lower limb; Relative macrocephaly; Spinal deformities 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 17 8 118 59 15 0 217
GeneDx 3 7 50 59 56 0 175
Illumina Clinical Services Laboratory,Illumina 0 0 33 47 34 0 93
Ambry Genetics 0 1 9 15 9 0 34
PreventionGenetics, PreventionGenetics 0 0 0 8 16 0 24
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 2 6 11 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 6 1 0 0 9
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 4 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 4 0 1 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 4 0 0 0 5
OMIM 4 0 0 0 0 0 4
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 2 2 0 0 4
Blueprint Genetics 0 0 3 1 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 1 0 0 0 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Mendelics 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Birmingham Platelet Group; University of Birmingham 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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