ClinVar Miner

Variants studied for autosomal recessive nonsyndromic deafness 12

Included ClinVar conditions (4):
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 not provided total
35 7 331 23 38 2 435

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 not provided total
CDH23 31 6 274 18 30 2 360
C10orf105, CDH23 2 0 32 2 2 0 38
CDH23, PSAP 0 0 20 3 6 0 29
CDH23, LOC111982869 1 1 5 0 0 0 7
GJB2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 2 0 308 23 38 0 371
Fulgent Genetics,Fulgent Genetics 3 1 15 0 0 0 19
Baylor Genetics 0 0 13 0 0 0 13
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 11 0 0 0 0 0 11
National Institute on Deafness and Communication Disorders,National Institutes of Health 3 1 4 0 0 0 8
OMIM 7 0 0 0 0 0 7
Hereditary Research Laboratory, Bethlehem University 7 0 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 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 2 0 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 1 0 0 0 0 0 1

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