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
31 31 188 260 42 1 477

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 24 13 134 247 39 1 432
Usher syndrome type 1 2 2 54 11 8 1 77
not specified 0 0 25 12 19 0 54
Autosomal recessive nonsyndromic hearing loss 12 3 1 36 4 7 0 50
Usher syndrome type 1D 5 2 26 7 11 0 49
Pituitary adenoma 5, multiple types 5 12 2 0 1 0 20
Inborn genetic diseases 1 0 12 3 0 0 16
CDH23-related condition 0 0 1 11 1 0 13
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 0 1 8 0 1 0 10
CDH23-Related Disorders 0 0 8 0 0 0 8
Usher syndrome 1 2 1 0 1 0 5
Rare genetic deafness 4 0 0 0 0 0 4
Retinal dystrophy 0 2 2 0 0 0 4
Retinitis pigmentosa-deafness syndrome 0 0 1 0 2 0 3
Hearing loss, autosomal recessive 0 2 0 0 0 0 2
Ear malformation 0 1 0 0 0 0 1
Hearing impairment 0 0 1 0 0 0 1
Meniere disease 0 0 1 0 0 0 1
Nonsyndromic Hearing Loss, Recessive 0 0 1 0 0 0 1
Vitreoretinopathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 21 10 107 237 17 0 392
GeneDx 3 3 21 15 36 0 78
Natera, Inc. 1 2 54 11 8 0 76
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 0 23 10 17 0 54
Illumina Laboratory Services, Illumina 0 0 31 7 6 0 35
Eurofins Ntd Llc (ga) 2 0 15 2 3 0 22
Baylor Genetics 4 12 2 0 0 0 18
Ambry Genetics 1 0 12 3 0 0 16
PreventionGenetics, part of Exact Sciences 0 0 1 11 4 0 16
CeGaT Center for Human Genetics Tuebingen 0 0 4 10 0 0 14
Fulgent Genetics, Fulgent Genetics 0 1 8 0 1 0 10
Genome-Nilou Lab 0 0 1 2 6 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 1 3 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 2 0 2 0 6
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
Athena Diagnostics Inc 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
3billion 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
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
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
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
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 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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