ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, vascular type

Included ClinVar conditions (2):
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
469 113 301 155 68 8 1036

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL3A1 464 113 300 154 68 8 1029
COL3A1, MIR3606 2 0 0 1 0 0 3
COL3A1, COL5A2 1 0 0 0 0 0 1
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: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 75 90 231 139 25 0 560
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 8 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 6 0 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 1 5 0 0 0 0 6
Mendelics 1 0 0 1 4 0 6
Fulgent Genetics,Fulgent Genetics 2 0 4 0 0 0 6
CSER _CC_NCGL, University of Washington 0 0 3 3 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
Baylor Genetics 0 1 4 0 0 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 3 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 1 0 0 2
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 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
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1

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