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
140 90 917 691 194 8 1712

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 81 47 497 553 131 5 1250
not specified 0 1 186 194 123 1 469
Deafness, autosomal recessive 12 26 4 266 18 30 0 344
Usher syndrome type 1D 11 2 234 25 56 0 325
Usher syndrome type 1 10 5 224 29 54 0 319
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 11 0 0 0 15
Hearing impairment 0 5 9 1 0 0 15
none provided 0 0 1 0 12 0 13
Autosomal recessive nonsyndromic deafness 0 12 0 0 0 0 12
Nonsyndromic Hearing Loss, Recessive 0 0 11 2 0 0 12
Deafness, autosomal recessive 12; Usher syndrome type 1D 3 1 5 0 0 2 11
Inborn genetic diseases 2 0 6 0 0 0 8
Usher syndrome 0 2 5 1 0 0 8
Pituitary adenoma 5, multiple types 3 0 4 0 0 0 7
Nonsyndromic hearing loss and deafness 1 0 2 0 2 0 5
Retinitis pigmentosa 1 2 1 0 0 0 4
Deafness 2 0 0 0 0 0 2
Neurodevelopmental abnormality 0 0 2 0 0 0 2
USHER SYNDROME, TYPE ID/F, DIGENIC 2 0 0 0 0 0 2
Beta-D-mannosidosis 0 0 1 0 0 0 1
Deafness, autosomal recessive 12; Usher syndrome, type 2A 1 0 0 0 0 0 1
Hearing impairment; Bilateral sensorineural hearing impairment 0 1 0 0 0 0 1
Non-Syndromic Hereditary Hearing Impairment 0 0 0 1 0 0 1
Sensorineural hearing loss 0 1 0 0 0 0 1
Stickler syndrome 0 0 1 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: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 69 31 389 531 86 0 1106
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 23 10 181 147 108 1 470
Illumina Clinical Services Laboratory,Illumina 3 0 268 41 56 0 319
Natera, Inc. 4 2 224 29 54 0 313
GeneDx 17 9 31 65 69 0 191
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 25 5 0 0 37
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 3 15 1 15 0 34
Athena Diagnostics Inc 1 0 8 2 21 0 32
Blueprint Genetics 3 10 7 0 0 0 20
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 5 11 1 0 0 17
Baylor Genetics 1 1 13 0 0 0 15
Fulgent Genetics,Fulgent Genetics 3 1 11 0 0 0 15
OMIM 14 0 0 0 0 0 14
University of Washington Center for Mendelian Genomics, University of Washington 0 12 0 1 0 0 13
ClinGen Hearing Loss Variant Curation Expert Panel 1 2 7 1 2 0 13
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 11 0 0 0 0 0 11
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 10 0 0 0 10
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 9 0 0 0 9
Ambry Genetics 2 0 6 0 0 0 8
National Institute on Deafness and Communication Disorders,National Institutes of Health 3 1 4 0 0 0 8
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
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 Fairview: 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 2 0 0 0 2
Nilou-Genome Lab 0 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Human Genetics Department,Tarbiat Modares University 0 1 0 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1

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