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
82 40 408 437 189 8 946

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 20 20 144 277 131 5 546
not specified 0 1 173 190 122 1 453
Retinitis pigmentosa-deafness syndrome 0 0 137 30 5 0 166
Nonsyndromic Hearing Loss, Recessive 0 0 134 30 0 0 163
CDH23-Related Disorders 1 0 76 1 0 0 78
Deafness, autosomal recessive 12 26 4 5 0 0 0 35
Rare genetic deafness 24 8 0 0 0 0 32
Usher syndrome, type 1D 11 2 2 0 0 0 15
Deafness, autosomal recessive 12; Usher syndrome, type 1D; PITUITARY ADENOMA 5, MULTIPLE TYPES 3 1 10 0 0 0 14
Usher syndrome, type 1 4 3 0 0 0 0 7
Inborn genetic diseases 1 0 4 0 0 0 5
Usher syndrome 0 1 3 1 0 0 5
Retinitis pigmentosa 1 2 1 0 0 0 4
Deafness, autosomal recessive 12; Usher syndrome, type 1D 0 0 1 0 0 2 3
PITUITARY ADENOMA 5, MULTIPLE TYPES 3 0 0 0 0 0 3
Deafness 2 0 0 0 0 0 2
Retinal dystrophy 0 1 1 0 0 0 2
USHER SYNDROME, TYPE ID/F, DIGENIC 2 0 0 0 0 0 2
Deafness, autosomal recessive 12; Usher syndrome, type 2A 1 0 0 0 0 0 1
Usher syndrome, type 1D; Deafness, autosomal recessive 84 1 0 0 0 0 0 1
Vitreoretinopathy 0 0 1 0 0 0 1
sensorineural hearing loss disorder 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 24 8 168 142 107 1 450
Invitae 4 4 0 256 86 0 350
GeneDx 17 9 30 65 69 0 190
Illumina Clinical Services Laboratory,Illumina 3 0 140 30 0 0 171
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 1 92 10 36 0 140
PreventionGenetics,PreventionGenetics 0 0 0 3 36 0 39
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 3 14 1 13 0 31
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 21 2 0 0 27
Athena Diagnostics Inc 0 0 5 1 18 0 24
Fulgent Genetics,Fulgent Genetics 3 1 11 0 0 0 15
OMIM 14 0 0 0 0 0 14
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 11 0 0 0 0 0 11
Mendelics 0 0 2 0 5 0 7
Hereditary Research Laboratory,Bethlehem University 7 0 0 0 0 0 7
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 3 2 0 0 0 6
ClinGen Hearing Loss Variant Curation Expert Panel, 0 2 3 1 0 0 6
Ambry Genetics 1 0 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 3 1 0 0 0 5
GeneReviews 2 2 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health: University of Minnesota 4 0 0 0 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 2 0 0 0 3
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 3 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
Baylor Genetics 1 1 0 0 0 0 2
Developmental Genetics Unit,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
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 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
Human Genetics - Radboudumc,Radboudumc 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 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
Medical Genetics and Immunology,Urmia University of Medical sciences 1 0 0 0 0 0 1

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