ClinVar Miner

Variants studied for Otospondylomegaepiphyseal dysplasia, autosomal dominant

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
7 2 75 62 20 166

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COL11A2 5 2 75 62 20 164
COL2A1 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 70 62 15 147
Genome-Nilou Lab 0 0 0 0 15 15
OMIM 4 0 0 0 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 1 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Joe DiMaggio Children's Hospital, Memorial Healthcare System 0 1 0 0 0 1

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