ClinVar Miner

Variants studied for Duane retraction syndrome 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
10 0 41 3 4 58

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign total
CHN1 10 41 3 4 58

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services,Illumina 0 39 3 4 46
OMIM 9 0 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 1
Genome-Nilou Lab 0 0 0 1 1

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