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
13 12 127 107 41 1 271

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ehlers-Danlos syndrome, classic type 8 3 47 25 14 0 97
Ehlers-Danlos syndrome, type 7A 0 0 33 37 10 0 80
not provided 5 7 55 3 6 0 76
not specified 0 0 3 44 29 0 74
Cardiovascular phenotype 0 1 9 15 9 0 34
Connective tissue disorder 0 0 2 2 0 0 4
Thoracic aortic aneurysm and aortic dissection 0 0 1 1 0 0 2
Ehlers-Danlos syndrome 0 0 0 0 0 1 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: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 3 7 50 37 25 0 122
Invitae 4 3 46 25 14 0 92
Illumina Clinical Services Laboratory,Illumina 0 0 33 37 10 0 80
Ambry Genetics 0 1 9 15 9 0 34
PreventionGenetics 0 0 0 8 16 0 24
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 1 3 6 0 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 4 0 1 0 5
OMIM 4 0 0 0 0 0 4
Center for Human Genetics, Inc 0 0 2 2 0 0 4
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 4 0 4
Blueprint Genetics, 0 0 3 1 0 0 4
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1

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