ClinVar Miner

Variants studied for Deafness, autosomal recessive 12

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
30 5 322 23 38 418

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CDH23 26 4 266 18 30 344
C10orf105, CDH23 2 0 31 2 2 37
CDH23, PSAP 0 0 20 3 6 29
CDH23, LOC111982869 1 1 5 0 0 7
GJB2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 2 0 308 23 38 371
Baylor Genetics 0 0 13 0 0 13
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 11 0 0 0 0 11
OMIM 7 0 0 0 0 7
Hereditary Research Laboratory, Bethlehem University 7 0 0 0 0 7
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 3 1 0 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1

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