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
542 247 879 781 90 8 2392

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 523 243 855 756 89 8 2321
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, SLC40A1, WDR75 2 0 0 0 0 0 2
COL3A1, COL5A2, LOC126806446, LOC129935237, LOC129935238, LOC129935239, LOC129935240, MIR1245A, MIR1245B, MIR3129, MIR3606, SLC40A1, WDR75 1 0 0 0 0 0 1
FBN2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 167 191 567 688 55 0 1668
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
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
Baylor Genetics 1 6 5 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 9 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 6 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 2 0 0 0 9
Genome-Nilou Lab 0 0 0 0 8 0 8
MGZ Medical Genetics Center 0 1 6 0 0 0 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 3 3 0 0 0 7
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
Cohesion Phenomics 0 0 0 0 6 0 6
Genetics and Molecular Pathology, SA Pathology 1 0 4 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 3 2 0 0 0 5
deCODE genetics, Amgen 1 4 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 2 0 2 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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 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
Clinical Genomics Laboratory, Stanford Medicine 0 1 1 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
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
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 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 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Department of Gastroenterological Surgery, Kumamoto University 0 1 0 0 0 0 1

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