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
335 285 1781 2596 345 17 4796

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 279 113 1350 2514 325 5 4417
Usher syndrome type 1 20 7 488 65 75 4 655
not specified 0 1 230 170 128 1 514
Autosomal recessive nonsyndromic hearing loss 12 33 30 315 25 61 0 449
Usher syndrome type 1D 18 10 264 33 84 0 399
Pituitary adenoma 5, multiple types 41 112 16 0 6 0 175
Inborn genetic diseases 3 0 146 3 0 0 152
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 6 3 92 12 5 0 118
CDH23-related condition 2 2 12 59 10 0 85
CDH23-Related Disorders 1 0 76 1 0 1 79
Usher syndrome 11 17 6 1 0 2 36
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 11 2 6 0 19
Hearing impairment 0 5 9 1 0 0 15
Hearing loss, autosomal recessive 0 12 0 0 0 0 12
Nonsyndromic Hearing Loss, Recessive 0 0 10 2 0 0 12
Nonsyndromic genetic hearing loss 2 1 4 0 3 0 10
Childhood onset hearing loss 3 1 4 0 0 0 8
Retinitis pigmentosa 1 2 1 0 0 0 4
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D 0 0 0 0 0 3 3
Ear malformation 0 3 0 0 0 0 3
Deafness 2 0 0 0 0 0 2
Neurodevelopmental abnormality 0 0 2 0 0 0 2
Sensorineural hearing loss disorder 2 0 0 0 0 0 2
USHER SYNDROME, TYPE ID/F, DIGENIC 2 0 0 0 0 0 2
Usher syndrome type 1; Usher syndrome type 1D 0 2 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 2A 1 0 0 0 0 0 1
Beta-D-mannosidosis 0 0 1 0 0 0 1
CDH23-related disorder 0 1 0 0 0 0 1
Hearing impairment; Bilateral sensorineural hearing impairment 0 1 0 0 0 0 1
Hereditary cancer 0 0 0 1 0 0 1
Meniere disease 0 1 0 0 0 0 1
Non-Syndromic Hereditary Hearing Impairment 0 0 0 1 0 0 1
See cases 0 0 1 0 0 0 1
Stickler syndrome 0 0 1 0 0 0 1
Usher syndrome type 1D; Autosomal recessive nonsyndromic hearing loss 84A 1 0 0 0 0 0 1
Usher syndrome type 1D; Prelingual sensorineural hearing impairment 0 0 0 0 0 1 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: 94
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 270 87 1185 2350 169 0 4061
GeneDx 27 14 211 204 237 0 693
Natera, Inc. 16 6 488 65 75 0 650
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 23 10 181 147 108 1 470
Illumina Laboratory Services, Illumina 3 0 268 41 56 0 320
Baylor Genetics 38 113 22 0 0 0 171
Ambry Genetics 3 0 146 3 0 0 152
Eurofins Ntd Llc (ga) 1 1 92 10 36 0 140
PreventionGenetics, part of Exact Sciences 2 2 12 62 46 0 124
Fulgent Genetics, Fulgent Genetics 6 3 90 12 5 0 116
CeGaT Center for Human Genetics Tuebingen 6 7 33 61 5 0 112
Genome-Nilou Lab 0 0 32 16 55 0 102
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 9 53 4 7 0 79
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 18 24 11 0 55
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 15 4 18 0 40
Clinical Genetics, Academic Medical Center 2 1 7 6 22 0 38
Athena Diagnostics Inc 1 0 9 3 21 0 34
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 14 4 10 0 31
Revvity Omics, Revvity 5 2 13 0 0 0 20
Blueprint Genetics 3 10 7 0 0 0 20
3billion 3 3 10 1 0 0 17
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 5 11 1 0 0 17
King Laboratory, University of Washington 0 16 0 0 0 0 16
ClinGen Hearing Loss Variant Curation Expert Panel 3 1 9 1 2 0 16
OMIM 14 0 0 0 0 0 14
Mendelics 0 1 5 1 6 0 13
University of Washington Center for Mendelian Genomics, University of Washington 0 12 0 1 0 0 13
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 2 9 0 0 0 12
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 4 6 1 0 0 0 11
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
National Institute on Deafness and Communication Disorders, National Institutes of Health 3 1 4 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 0 6 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 6 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 1 0 0 0 7
Hereditary Research Laboratory, Bethlehem University 7 0 0 0 0 0 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 3 2 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 4 0 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 1 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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 3 0 1 0 5
GeneReviews 0 0 0 0 0 4 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 4 0 0 0 0 0 4
AiLife Diagnostics, AiLife Diagnostics 0 0 4 0 0 0 4
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, 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
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 1 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 1 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 3 0 0 0 0 3
INGEBI, INGEBI / CONICET 1 1 0 0 1 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Department Of Translational Genomics (developmental Genetics Section), 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 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
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 1 0 1 0 0 0 2
Wangler Lab, Baylor College of Medicine 1 0 1 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 2 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 2 0 0 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Pars Genome Lab 0 0 1 1 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
DBGen Ocular Genomics 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
UAEU Genomics Laboratory, United Arab Emirates University 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO) 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
Institute of Human Genetics, University of Leipzig Medical Center 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
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 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
Faculty of Health Sciences, Beirut Arab University 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1

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