ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, vascular type

Included ClinVar conditions (3):
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
541 241 884 781 90 14 2389

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL3A1 523 237 860 756 89 14 2319
COL3A1, LOC126806446 12 4 21 21 1 0 57
COL3A1, MIR3606 2 0 1 4 0 0 7
COL3A1, COL5A2 2 0 1 0 0 0 3
COL3A1, COL5A2, LOC126806446, LOC129935237, LOC129935238, LOC129935239, LOC129935240, 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: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 166 191 567 688 55 0 1667
All of Us Research Program, National Institutes of Health 4 8 424 238 12 0 686
Collagen Diagnostic Laboratory, University of Washington 411 0 0 0 0 0 411
Illumina Laboratory Services, Illumina 0 0 46 14 56 0 116
Fulgent Genetics, Fulgent Genetics 6 3 67 2 3 0 81
OMIM 31 0 0 0 0 0 31
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 15 0 0 0 0 17
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 2 7 3 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 9 2 0 0 12
Baylor Genetics 1 5 5 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 6 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Genome-Nilou Lab 0 0 0 0 8 0 8
MGZ Medical Genetics Center 0 1 6 0 0 0 7
Mendelics 1 0 0 1 4 0 6
CSER _CC_NCGL, University of Washington 0 0 3 3 0 0 6
Cohesion Phenomics 0 0 0 0 6 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 2 3 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 1 0 4 0 0 0 5
deCODE genetics, Amgen 1 4 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 1 0 0 0 4
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
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 1 0 0 3
Institute of Human Genetics, University of Goettingen 1 0 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 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
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 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 Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Division of Medical Genetics at University of Versailles, Paris Saclay University 0 1 0 0 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Division of Biology and Genetics, University of Brescia 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Department of Gastroenterological Surgery, Kumamoto University 0 1 0 0 0 0 1

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