ClinVar Miner

Variants studied for multiple epiphyseal dysplasia

Included ClinVar conditions (26):
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
185 155 731 378 125 29 1519

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC26A2 127 82 262 304 26 0 741
KIF7 5 19 240 11 10 0 283
COMP 13 22 51 7 17 13 116
COL9A2 5 3 46 23 34 1 109
MATN3 6 3 26 6 6 15 53
COL2A1 13 8 17 11 3 0 52
COL9A3 6 5 21 7 7 0 46
COL9A1 3 1 16 4 12 0 35
MATN3, WDR35-DT 2 1 18 2 5 0 27
KIF7, LOC126862216 0 0 22 2 2 0 26
CANT1 4 11 2 0 0 0 16
LOC129994976, SLC26A2 0 0 7 0 0 0 7
COL9A3, LOC126863084 0 0 3 1 0 0 4
MATN3, WDR35, WDR35-DT 0 0 0 0 2 0 2
COL1A1 1 0 0 0 0 0 1
COL9A2, LOC129930261 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 125 12 135 290 12 0 574
Fulgent Genetics, Fulgent Genetics 25 61 303 38 6 0 433
Illumina Laboratory Services, Illumina 0 1 233 47 82 0 363
Counsyl 1 46 14 1 0 0 62
Genome-Nilou Lab 0 0 6 1 30 0 37
GeneReviews 0 0 0 0 0 28 28
OMIM 26 0 0 0 0 0 26
Juno Genomics, Hangzhou Juno Genomics, Inc 7 3 9 0 0 0 19
Baylor Genetics 5 0 11 0 0 0 16
Mendelics 1 1 1 2 3 0 8
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 5 1 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 3 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 4 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 3 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 0 0 0 0 4
Myriad Genetics, Inc. 3 1 0 0 0 0 4
3billion, Medical Genetics 0 3 0 1 0 0 4
Institute of Human Genetics, Cologne University 2 0 1 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 0 1 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
MGZ Medical Genetics Center 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 1 0 0 0 2
Suma Genomics 0 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 0 1

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