ClinVar Miner

Variants studied for Stickler syndrome type 2

Coded as:
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 total
14 30 126 35 33 234

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COL11A1 13 30 121 35 33 228
COL11A1, LOC126805814 0 0 5 0 0 5
COL1A1 1 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 total
Illumina Laboratory Services, Illumina 1 1 100 34 24 160
Genome-Nilou Lab 0 0 0 0 16 16
Autoinflammatory diseases unit, CHU de Montpellier 7 8 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 6 1 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 3 1 0 7
Baylor Genetics 1 2 3 0 0 6
3billion 1 1 2 0 0 4
MGZ Medical Genetics Center 0 0 3 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 3
OMIM 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 1 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Miami Human Genetics, University Of Miami Miller School Of Medicine 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1
Suma Genomics 1 0 0 0 0 1
DASA 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 1

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