ClinVar Miner

Variants in gene COL9A3

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Minimum submission review status: Collection method:
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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 risk factor not provided total
34 18 662 652 134 1 1 1409

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 25 8 625 639 129 0 0 1364
Inborn genetic diseases 0 0 84 4 0 0 0 88
not specified 0 0 20 26 33 0 0 79
COL9A3-related disorder 1 1 17 34 5 0 0 58
Epiphyseal dysplasia, multiple, 3 7 4 11 0 7 0 0 29
Connective tissue disorder 0 2 5 3 13 0 0 23
Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder 0 1 6 7 0 0 0 14
Stickler syndrome, type 6 7 0 1 0 0 0 0 8
Stickler syndrome 2 0 3 0 1 0 0 6
Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder; Stickler syndrome, type 6 0 0 5 0 0 0 0 5
Hearing impairment 0 0 2 0 0 0 0 2
Multiple Epiphyseal Dysplasia, Dominant 0 0 1 1 0 0 0 2
Retinal detachment; Lattice retinal degeneration 0 2 0 0 0 0 0 2
Autosomal recessive Stickler syndrome 0 1 0 0 0 0 0 1
Bilateral sensorineural hearing impairment 0 0 1 0 0 0 0 1
Epiphyseal dysplasia, multiple, 3, with myopathy 1 0 0 0 0 0 0 1
Epiphyseal dysplasia, multiple, 3; Stickler syndrome, type 6 0 0 0 0 0 0 1 1
Intervertebral disc disease, susceptibility to 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 25 3 561 553 52 0 0 1194
GeneDx 1 3 137 99 99 0 0 339
Breakthrough Genomics, Breakthrough Genomics 0 0 2 45 64 0 0 111
PreventionGenetics, part of Exact Sciences 1 1 17 40 34 0 0 93
Ambry Genetics 0 0 84 4 0 0 0 88
CeGaT Center for Human Genetics Tuebingen 1 1 15 20 5 0 0 42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 18 18 0 0 0 37
Eurofins Ntd Llc (ga) 0 0 10 4 14 0 0 28
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 5 3 13 0 0 23
Fulgent Genetics, Fulgent Genetics 0 1 9 7 0 0 0 17
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 14 0 0 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 4 8 0 0 13
Athena Diagnostics 0 0 0 1 11 0 0 12
OMIM 10 0 0 0 0 1 0 11
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 9 0 0 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 7 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 7 0 1 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 3 3 0 0 7
Revvity Omics, Revvity 0 1 5 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 0 6
Mendelics 0 0 2 0 2 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 3 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 3
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 3 0 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 0 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 0 2
Eye Genetics Research Group, Children's Medical Research Institute 0 2 0 0 0 0 0 2
Illumina Laboratory Services, Illumina 0 0 1 1 0 0 0 2
3billion 0 1 1 0 0 0 0 2
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 0 1
Blueprint Genetics 0 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 0 1

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