ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, type 4

Coded as:
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
464 89 250 98 68 7 907

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL3A1 460 89 249 98 68 7 902
COL3A1, MIR3606 2 0 0 0 0 0 2
COL3A1, COL5A2, MIR1245A, MIR1245B, MIR3129, MIR3606, SLC40A1, WDR75 1 0 0 0 0 0 1
COL3A1, COL5A2, SLC40A1, WDR75 1 0 0 0 0 0 1
FBN2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 65 68 185 82 25 0 425
Collagen Diagnostic Laboratory,University of Washington 411 0 0 0 0 0 411
Illumina Clinical Services Laboratory,Illumina 0 0 46 14 56 0 116
OMIM 31 0 0 0 0 0 31
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 2 7 3 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Mendelics 1 0 0 1 4 0 6
CSER _CC_NCGL, University of Washington 0 0 3 3 0 0 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 5 0 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 1 4 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 2 0 3 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 2 0 3
Blueprint Genetics 0 2 1 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Division of Medical Genetics at University of Versailles, Paris Saclay University 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Clinical Genomics Program,Stanford Medicine 0 1 0 0 0 0 1

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