ClinVar Miner

Variants in gene combination COL5A1, LOC101448202

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Minimum submission review status: Collection method:
Minimum conflict level:
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
54 28 311 376 191 5 798

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ehlers-Danlos syndrome, classic type, 1 46 13 141 241 119 0 543
not provided 6 10 135 97 72 0 305
Familial thoracic aortic aneurysm and aortic dissection 1 1 45 86 10 0 143
not specified 0 0 7 45 37 0 85
Ehlers-Danlos syndrome type 7A 0 0 33 36 10 0 79
Ehlers-Danlos syndrome, classic type 2 2 12 13 25 4 58
Fibromuscular dysplasia, multifocal 0 0 0 0 40 0 40
Ehlers-Danlos syndrome 2 2 8 9 6 1 28
COL5A1-related disorder 0 0 8 16 1 0 25
Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 1 1 9 3 3 0 17
Connective tissue disorder 0 0 2 2 0 0 4
Abnormal bleeding; Thrombocytopenia 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type, 2 0 1 0 0 0 0 1
Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, classic type, 1 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
Shoulder subluxation 0 0 1 0 0 0 1
Skeletal dysplasia; Scoliosis; Narrow chest; Abnormality of the lower limb; Relative macrocephaly; Neuropathic spinal arthropathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 43 10 136 243 100 0 532
GeneDx 3 9 111 88 74 0 285
Ambry Genetics 1 1 44 86 10 0 142
Illumina Laboratory Services, Illumina 0 0 34 47 34 0 94
Breakthrough Genomics, Breakthrough Genomics 0 0 4 33 32 0 69
PreventionGenetics, part of Exact Sciences 0 0 8 24 16 0 48
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 7 15 24 0 47
Genome-Nilou Lab 0 0 0 0 40 0 40
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 7 10 15 0 33
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 2 8 9 6 0 26
CeGaT Center for Human Genetics Tuebingen 2 0 9 9 3 0 23
Mayo Clinic Laboratories, Mayo Clinic 0 1 16 0 0 0 17
Fulgent Genetics, Fulgent Genetics 1 0 6 3 3 0 13
MGZ Medical Genetics Center 0 1 5 0 0 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 4 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 4 0 6
AiLife Diagnostics, AiLife Diagnostics 0 0 6 0 0 0 6
Revvity Omics, Revvity 0 0 5 0 0 0 5
Eurofins Ntd Llc (ga) 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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 3 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
GenomeConnect, ClinGen 0 0 0 0 0 3 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Birmingham Platelet Group; University of Birmingham 0 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1

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