ClinVar Miner

Variants in gene combination C10orf105, 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
38 44 208 267 42 1 520

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 28 15 143 256 39 1 452
Usher syndrome type 1 2 2 54 11 8 1 77
not specified 0 0 27 14 19 0 58
Autosomal recessive nonsyndromic hearing loss 12 5 4 37 4 7 0 55
Usher syndrome type 1D 5 3 27 7 11 0 51
Inborn genetic diseases 1 0 25 2 0 0 28
CDH23-related disorder 0 0 11 15 1 0 26
Pituitary adenoma 5, multiple types 6 14 3 0 1 0 24
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 0 5 8 0 1 0 14
Retinal dystrophy 1 3 3 0 0 0 7
Usher syndrome 1 2 1 0 1 0 5
Hearing loss, autosomal recessive 0 3 1 0 0 0 4
Rare genetic deafness 4 0 0 0 0 0 4
Hearing impairment 0 0 3 0 0 0 3
Retinitis pigmentosa-deafness syndrome 0 0 1 0 2 0 3
Ear malformation 0 1 0 0 0 0 1
Meniere disease 0 0 1 0 0 0 1
Optic atrophy 0 0 1 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
Labcorp Genetics (formerly Invitae), Labcorp 25 12 110 243 17 0 407
GeneDx 3 3 29 15 36 0 86
Natera, Inc. 1 2 54 11 8 0 76
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 0 23 11 17 0 55
Illumina Laboratory Services, Illumina 0 0 31 7 6 0 35
Ambry Genetics 1 0 25 3 0 0 29
Breakthrough Genomics, Breakthrough Genomics 0 0 1 6 17 0 24
Baylor Genetics 5 14 3 0 0 0 22
PreventionGenetics, part of Exact Sciences 0 0 3 15 4 0 22
Eurofins Ntd Llc (ga) 2 0 15 2 3 0 22
CeGaT Center for Human Genetics Tuebingen 0 0 5 12 1 0 18
Fulgent Genetics, Fulgent Genetics 0 5 8 0 1 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 3 1 3 0 9
Genome-Nilou Lab 0 0 1 2 6 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 4 0 2 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 1 3 0 6
OMIM 4 0 1 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 3 0 5
Institute of Rare Diseases, West China Hospital, Sichuan University 2 3 0 0 0 0 5
Athena Diagnostics 0 0 0 0 4 0 4
Revvity Omics, Revvity 0 1 3 0 0 0 4
Blueprint Genetics 0 2 2 0 0 0 4
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 1 1 2 0 0 0 4
3billion, Medical Genetics 1 1 1 0 0 0 3
Mendelics 0 0 0 0 2 0 2
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
ClinGen Hearing Loss Variant Curation Expert Panel 0 0 1 0 1 0 2
Pars Genome Lab 0 0 1 0 1 0 2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 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 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
INGEBI, INGEBI / CONICET 1 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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