ClinVar Miner

Variants studied for Stickler syndrome

Included ClinVar conditions (16):
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
48 24 188 61 56 2 379

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL2A1 38 14 71 25 32 0 180
COL11A1 5 6 105 34 24 1 175
COL9A2 1 2 5 1 0 1 10
COL9A1 3 0 5 0 0 0 8
ALMS1 0 1 0 0 0 0 1
CDH23 0 0 1 0 0 0 1
COL4A3, MFF-DT 0 0 1 0 0 0 1
COL9A3 0 1 0 0 0 0 1
LOXHD1 0 0 0 1 0 0 1
LOXL3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 168 58 53 0 279
OMIM 23 0 0 0 0 0 23
Mendelics 4 4 1 0 3 0 12
Center for Human Genetics, Inc,Center for Human Genetics, Inc 4 4 2 0 0 0 10
Fulgent Genetics,Fulgent Genetics 3 0 6 0 0 0 9
Baylor Genetics 2 2 2 0 0 0 6
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 3 2 1 0 0 6
GeneReviews 4 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 2 0 0 0 0 4
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Center for Medical Genetics Ghent,University of Ghent 2 0 0 0 0 0 2
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 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
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 1 0 0 0 0 1

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