ClinVar Miner

Variants studied for COL1A2-related Ehlers-Danlos syndrome

Included ClinVar conditions (31):
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
71 49 164 43 128 20 453

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
COL1A2 40 34 84 19 53 11 225
COL1A1 29 14 78 24 72 8 219
COL1A1, LOC126862586 1 1 1 0 3 1 7
ALB 1 0 0 0 0 0 1
COL5A2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 105 28 119 0 252
Fulgent Genetics, Fulgent Genetics 27 8 23 13 4 0 75
Juno Genomics, Hangzhou Juno Genomics, Inc 13 10 0 0 0 0 23
OMIM 21 0 0 0 0 0 21
Genome-Nilou Lab 0 0 0 0 13 0 13
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 11 11
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 2 1 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 6 0 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 0 0 0 7
MGZ Medical Genetics Center 1 2 4 0 0 0 7
3billion 3 2 1 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 2 2 1 0 0 0 5
Institute of Immunology and Genetics Kaiserslautern 0 0 4 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 1 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 1 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 3 0 0 0 3
Baylor Genetics 0 2 0 0 0 0 2
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Dasa 1 1 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Division of Biology and Genetics, University of Brescia 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Medical Genetics and Prenatal Diagnosis Center, Guangxi Academy of Medical Sciences and the People’s Hospital of Guangxi Zhuang Autonomous Region 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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