ClinVar Miner

Variants in gene CDH23

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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
116 61 666 430 191 8 1211

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 57 31 359 278 131 5 806
not specified 0 1 181 192 122 1 463
Deafness, autosomal recessive 12 26 3 255 18 30 0 332
Usher syndrome type 1D 11 2 227 22 56 0 318
CDH23-Related Disorders 1 0 76 1 0 0 78
Rare genetic deafness 23 9 0 0 0 0 32
Retinal dystrophy 3 11 8 0 0 0 21
Retinitis pigmentosa-deafness syndrome 0 0 13 2 5 0 19
Deafness, autosomal recessive 12; Usher syndrome type 1D; PITUITARY ADENOMA 5, MULTIPLE TYPES 3 1 10 0 0 0 14
Nonsyndromic Hearing Loss, Recessive 0 0 11 2 0 0 12
Usher syndrome type 1 6 3 0 0 0 0 9
Usher syndrome 0 2 4 1 0 0 7
Inborn genetic diseases 1 0 4 0 0 0 5
Nonsyndromic hearing loss and deafness 0 0 2 0 2 0 4
Retinitis pigmentosa 1 2 1 0 0 0 4
Deafness, autosomal recessive 12; Usher syndrome type 1D 0 0 1 0 0 2 3
PITUITARY ADENOMA 5, MULTIPLE TYPES 3 0 0 0 0 0 3
Deafness 2 0 0 0 0 0 2
USHER SYNDROME, TYPE ID/F, DIGENIC 2 0 0 0 0 0 2
Abnormal electroretinogram; Progressive night blindness; Peripheral visual field loss 0 0 1 0 0 0 1
Central scotoma; Macular dystrophy; Perifoveal ring of hyperautofluorescence; Diabetes mellitus 0 0 1 0 0 0 1
Deafness, autosomal recessive 12; Usher syndrome, type 2A 1 0 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Non-Syndromic Hereditary Hearing Impairment 0 0 0 1 0 0 1
Photophobia; Reduced visual acuity; Macular dystrophy; Metamorphopsia 0 0 1 0 0 0 1
Pigmentary retinopathy; Vitelliform-like macular lesions 0 0 1 0 0 0 1
Sensorineural hearing loss 0 1 0 0 0 0 1
Usher syndrome type 1D; Deafness, autosomal recessive 84 1 0 0 0 0 0 1
Usher syndrome type 2 1 0 0 0 0 0 1
Vitreoretinopathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 44 15 249 256 86 0 650
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 23 10 176 145 108 1 463
Illumina Clinical Services Laboratory,Illumina 3 0 268 41 56 0 319
GeneDx 17 9 30 65 69 0 190
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 1 92 10 36 0 140
PreventionGenetics,PreventionGenetics 0 0 0 3 36 0 39
CeGaT Praxis fuer Humangenetik Tuebingen 3 4 24 5 0 0 36
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 14 1 13 0 31
Athena Diagnostics Inc 0 0 5 1 18 0 24
Blueprint Genetics 3 10 7 0 0 0 20
Fulgent Genetics,Fulgent Genetics 3 1 11 0 0 0 15
OMIM 14 0 0 0 0 0 14
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 11 0 0 0 0 0 11
ClinGen Hearing Loss Variant Curation Expert Panel 0 2 6 1 2 0 11
Mendelics 0 0 2 0 5 0 7
Hereditary Research Laboratory,Bethlehem University 7 0 0 0 0 0 7
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 3 2 0 0 0 6
Ambry Genetics 1 0 4 0 0 0 5
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 5 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 2 0 0 0 5
GeneReviews 2 2 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 0 4
Molecular Diagnostics Laboratory, M Health: University of Minnesota 4 0 0 0 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Molecular Genetics Laboratory,Institute for Ophthalmic Research 3 0 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 2 0 0 0 3
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 2 1 0 0 0 0 3
Baylor Genetics 1 1 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 0 0 0 0 2
Center for Statistical Genetics, Columbia University 2 0 0 0 0 0 2
Human Genetics - Radboudumc,Radboudumc 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 1 0 0 0 0 0 1

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