ClinVar Miner

Variants in gene CDH23

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Minimum submission review status: Collection method:
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Gene type:

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
407 452 2255 2769 357 66 5584

Condition and significance breakdown #

Total conditions: 67
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 318 128 1493 2694 337 6 4731
Usher syndrome type 1 34 89 694 69 84 4 968
not specified 0 1 265 193 141 1 567
Autosomal recessive nonsyndromic hearing loss 12 55 74 340 27 68 0 543
Inborn genetic diseases 3 0 459 9 1 0 472
Usher syndrome type 1D 31 16 290 35 93 0 452
Pituitary adenoma 5, multiple types 45 143 24 0 6 0 217
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 15 59 96 12 5 0 187
CDH23-related disorder 5 5 27 73 13 1 124
Retinal dystrophy 11 21 40 0 0 0 70
Usher syndrome 24 24 6 1 0 2 56
Rare genetic deafness 22 10 3 0 0 0 35
Hearing impairment 0 5 11 1 0 0 17
Ovarian serous cystadenocarcinoma 0 0 0 0 0 15 15
Hearing loss, autosomal recessive 1 12 0 0 0 0 13
Nonsyndromic genetic hearing loss 2 1 5 0 3 0 11
Uterine corpus endometrial carcinoma 0 0 0 0 0 10 10
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 9 9
Childhood onset hearing loss 3 1 4 0 0 0 8
Retinitis pigmentosa-deafness syndrome 0 0 1 0 7 0 8
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D 1 1 0 0 0 5 7
Monogenic hearing loss 2 3 1 0 0 0 6
Uterine carcinosarcoma 0 0 0 0 0 6 6
Acute myeloid leukemia 0 0 0 0 0 5 5
Thymoma 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 4 4
Gastric cancer 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 4 4
Optic atrophy 0 0 4 0 0 0 4
Retinitis pigmentosa 1 2 1 0 0 0 4
Cervical cancer 0 0 0 0 0 3 3
Ear malformation 0 3 0 0 0 0 3
Sarcoma 0 0 0 0 0 3 3
autosomal recessive CDH23-related disorders 2 1 0 0 0 0 3
Colon adenocarcinoma 0 0 0 0 0 2 2
Cone-rod dystrophy 0 0 1 1 0 0 2
Deafness 2 0 0 0 0 0 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Neurodevelopmental abnormality 0 0 2 0 0 0 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 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
VATER association 0 0 2 0 0 0 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
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
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Hearing impairment; Bilateral sensorineural hearing impairment 0 1 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hereditary cancer 0 0 0 1 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Meniere disease 0 1 0 0 0 0 1
Non-Syndromic Hereditary Hearing Impairment 0 0 0 1 0 0 1
Retinal disorder 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Stickler syndrome 0 0 1 0 0 0 1
Syndromic retinitis pigmentosa 1 0 0 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: 118
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 305 89 1230 2492 180 0 4296
Natera, Inc. 30 88 687 69 83 0 957
GeneDx 34 25 417 206 248 0 930
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 22 11 186 149 116 1 485
Ambry Genetics 3 0 459 9 1 0 472
Illumina Laboratory Services, Illumina 3 0 268 43 65 0 330
Baylor Genetics 42 143 29 0 0 0 212
Breakthrough Genomics, Breakthrough Genomics 0 1 17 77 104 0 199
Fulgent Genetics, Fulgent Genetics 15 59 92 12 5 0 183
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 18 16 99 26 22 0 181
CeGaT Center for Human Genetics Tuebingen 8 7 64 90 9 0 178
PreventionGenetics, part of Exact Sciences 4 3 26 76 54 0 163
Eurofins Ntd Llc (ga) 1 1 92 12 39 0 145
Genome-Nilou Lab 0 0 33 16 59 0 107
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 19 26 11 0 58
Institute of Rare Diseases, West China Hospital, Sichuan University 18 38 0 0 0 0 56
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 8 10 36 0 0 0 54
Mayo Clinic Laboratories, Mayo Clinic 0 1 7 3 41 0 52
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 47 47
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 15 4 19 0 41
Clinical Genetics, Academic Medical Center 2 1 8 7 23 0 41
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
3billion 9 5 17 0 0 0 31
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 26 0 1 0 29
Revvity Omics, Revvity 6 2 15 0 0 0 23
Blueprint Genetics 3 10 7 0 0 0 20
ClinGen Hearing Loss Variant Curation Expert Panel 3 1 10 1 2 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
Mendelics 0 1 5 1 7 0 14
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 2 5 0 0 0 13
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 2 9 0 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 4 6 3 0 0 12
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center 11 0 0 0 0 0 11
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 4 6 1 0 0 0 11
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 10 0 0 0 10
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 7 1 0 0 9
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
National Institute on Deafness and Communication Disorders, National Institutes of Health 3 1 4 0 0 0 8
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 3 3 1 0 0 0 7
Hereditary Research Laboratory, Bethlehem University 7 0 0 0 0 0 7
Wonkam Laboratory, Johns Hopkins University 4 2 1 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
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 5 0 0 0 6
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 6 6
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 4 1 0 0 5
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 1 4 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 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
Variantyx, Inc. 4 1 0 0 0 0 5
AiLife Diagnostics, AiLife Diagnostics 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Dasa 4 0 0 0 0 0 4
GeneReviews 0 0 0 0 0 4 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
Center for Statistical Genetics, Columbia University 3 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 1 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 2 0 0 0 3
INGEBI, INGEBI / CONICET 1 1 0 0 1 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 3 0 0 0 0 3
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 2 0 1 0 0 0 3
MVZ Martinsried, Medicover Genetics 1 1 1 0 0 0 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 3 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 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
DBGen Ocular Genomics 0 1 1 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
UAEU Genomics Laboratory, United Arab Emirates University 0 0 2 0 0 0 2
Wangler Lab, Baylor College of Medicine 1 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Faculty of Health Sciences, Beirut Arab University 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Human Genetics Department, Tarbiat Modares University 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 1 0 0 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 0 1 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 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
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1

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