ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, arthrochalasia type, 2

Included ClinVar conditions (29):
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
55 35 152 42 128 20 412

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
COL1A1 29 14 78 24 72 8 219
COL1A2 24 20 72 18 53 11 184
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: 37
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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
Genome-Nilou Lab 0 0 0 0 13 0 13
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 11 11
OMIM 10 0 0 0 0 0 10
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
3billion 2 2 1 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 1 0 3
Institute of Immunology and Genetics Kaiserslautern 0 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 2 0 0 0 0 3
Baylor Genetics 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 1 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 0 1
Dasa 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 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 Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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