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
383 394 1916 2687 343 17 5127

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 298 120 1428 2622 324 5 4585
Usher syndrome type 1 20 7 488 65 75 4 655
not specified 0 1 239 170 129 1 523
Autosomal recessive nonsyndromic hearing loss 12 51 69 320 24 61 0 508
Usher syndrome type 1D 24 13 268 33 84 0 410
Inborn genetic diseases 3 0 264 5 1 0 273
Pituitary adenoma 5, multiple types 45 142 24 0 6 0 217
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 15 59 95 12 5 0 186
CDH23-related disorder 5 4 98 74 10 1 182
Retinal dystrophy 11 21 40 0 0 0 70
Usher syndrome 17 20 6 1 0 2 45
Rare genetic deafness 22 10 3 0 0 0 35
Hearing loss, autosomal recessive 1 12 10 2 0 0 25
Retinitis pigmentosa-deafness syndrome 0 0 11 2 6 0 19
Hearing impairment 0 5 11 1 0 0 17
Nonsyndromic genetic hearing loss 2 1 4 0 3 0 10
Childhood onset hearing loss 3 1 4 0 0 0 8
Optic atrophy 0 0 4 0 0 0 4
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
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: 103
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 288 90 1204 2436 170 0 4188
GeneDx 29 17 320 203 237 0 806
Natera, Inc. 16 6 488 65 75 0 650
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 22 11 183 147 108 1 472
Illumina Laboratory Services, Illumina 3 0 266 40 56 0 320
Ambry Genetics 3 0 264 5 1 0 273
Baylor Genetics 42 143 29 0 0 0 212
Breakthrough Genomics, Breakthrough Genomics 0 1 17 68 104 0 190
Fulgent Genetics, Fulgent Genetics 15 59 92 12 5 0 183
PreventionGenetics, part of Exact Sciences 4 3 25 76 46 0 154
CeGaT Center for Human Genetics Tuebingen 7 7 54 71 7 0 146
Eurofins Ntd Llc (ga) 1 1 92 10 36 0 140
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 12 71 5 8 0 107
Genome-Nilou Lab 0 0 32 16 55 0 102
Institute of Rare Diseases, West China Hospital, Sichuan University 18 38 0 0 0 0 56
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 18 24 11 0 55
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 8 10 36 0 0 0 54
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 1 0 9 3 21 0 34
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 16 4 10 0 33
Revvity Omics, Revvity 5 2 13 0 0 0 20
Blueprint Genetics 3 10 7 0 0 0 20
3billion, Medical Genetics 3 4 10 0 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 2 3 0 0 0 11
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 6 1 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 9 0 0 0 9
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 7 1 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
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
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 4 0 0 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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 1 0 0 0 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
Wonkam Laboratory, Johns Hopkins University 2 1 1 0 0 0 4
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 Statistical Genetics, Columbia University 3 0 0 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
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
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
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 Laboratory, Stanford Medicine 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 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
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
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 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
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 0 1

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