ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, type 4

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
581 324 1090 1035 95 8 2954

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 562 315 1065 1003 94 8 2871
COL3A1, LOC126806446 12 9 23 26 1 0 68
COL3A1, MIR3606 2 0 0 6 0 0 8
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: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 214 251 755 932 60 0 2212
All of Us Research Program, National Institutes of Health 8 17 524 292 13 0 854
Collagen Diagnostic Laboratory, University of Washington 411 0 0 0 0 0 411
Illumina Laboratory Services, Illumina 0 0 35 8 55 0 98
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 9 0 0 0 0 14
Baylor Genetics 1 6 5 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 3 3 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 9 0 0 0 10
3billion 6 2 1 0 0 0 9
Genome-Nilou Lab 0 0 0 0 8 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 3 3 0 0 0 7
MGZ Medical Genetics Center 0 1 6 0 0 0 7
CSER _CC_NCGL, University of Washington 0 0 3 3 0 0 6
Cohesion Phenomics 0 0 0 0 6 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 4 2 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 0 6 0 0 0 0 6
Mendelics 1 0 0 1 4 0 6
Genetics and Molecular Pathology, SA Pathology 1 0 4 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
Blueprint Genetics 0 2 1 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 2 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 2 0 1 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 2 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 2
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
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Dasa 0 1 0 0 0 0 1
Department of Gastroenterological Surgery, Kumamoto University 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Division of Biology and Genetics, University of Brescia 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 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
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Human Molecular Lab, Hazara University 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 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 for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 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
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
New York Genome Center 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

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