ClinVar Miner

Variants studied for Usher syndrome type 2

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
73 9 1 0 0 83

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
USH2A 56 6 1 63
ADGRV1 8 2 0 10
MYO7A 3 0 0 3
USH1C 3 0 0 3
LOC122152296, USH2A 1 1 0 2
CDH23 1 0 0 1
CDH23, LOC111982869 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance total
Molecular Genetics Laboratory, Institute for Ophthalmic Research 32 0 0 32
Sharon lab, Hadassah-Hebrew University Medical Center 21 6 0 27
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 16 3 0 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 1

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