ClinVar Miner

Variants in gene combination CDH23, LOC111982869

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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
16 7 31 47 1 93

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 12 0 26 47 1 84
Autosomal recessive nonsyndromic hearing loss 12 1 1 6 0 0 8
Usher syndrome type 1 0 2 4 0 1 7
Usher syndrome type 1D 0 1 4 1 0 6
not specified 0 0 3 2 1 5
Pituitary adenoma 5, multiple types 2 2 0 0 0 4
Rare genetic deafness 2 1 0 0 0 3
CDH23-Related Disorders 0 0 2 0 0 2
CDH23-related condition 0 0 0 1 1 2
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 0 0 1 0 0 1
Hearing loss, autosomal recessive 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Retinal dystrophy 0 1 0 0 0 1
Usher syndrome 0 1 0 0 0 1
Usher syndrome type 2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 0 24 45 1 82
Natera, Inc. 0 2 4 0 1 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 1 1 1 1 6
GeneDx 1 0 3 1 1 6
Illumina Laboratory Services, Illumina 0 0 5 1 0 5
Baylor Genetics 2 2 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 2 0 0 3
PreventionGenetics, part of Exact Sciences 0 0 0 1 1 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 1
Ambry Genetics 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 1 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 0 1 0 0 1

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