ClinVar Miner

Variants studied for Deafness, autosomal recessive 57

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
11 6 6 0 0 17

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PDZD7 11 6 6 17

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 10 0 0 10
SIB Swiss Institute of Bioinformatics 0 4 1 5
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 2 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 1 2
Baylor Genetics 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 1
Genetics Laboratory, Department of Biology,Semnan University 1 0 0 1

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