ClinVar Miner

Variants in gene PCDH15

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Minimum submission review status: Collection method:
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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
33 92 395 103 99 4 643

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Usher syndrome, type 1F 16 82 180 11 1 0 283
not specified 0 0 79 87 83 1 228
not provided 6 1 71 7 22 2 107
Nonsyndromic Hearing Loss, Recessive 0 0 85 10 0 0 95
Retinitis pigmentosa-deafness syndrome 0 0 85 10 0 0 95
Deafness, autosomal recessive 23 9 2 0 0 0 0 11
Deafness, autosomal recessive 23; Usher syndrome, type 1D; Usher syndrome, type 1F 2 0 6 0 0 0 8
See cases 1 0 2 0 2 0 5
Usher syndrome, type 1 4 0 0 0 0 0 4
Retinal dystrophy 0 2 1 0 0 0 3
USHER SYNDROME, TYPE ID/F, DIGENIC 2 0 0 0 0 0 2
Usher syndrome 0 2 0 0 0 0 2
Usher syndrome, type 1D 1 1 0 0 0 0 2
Usher syndrome, type 1G 2 0 0 0 0 0 2
Autistic disorder of childhood onset 0 1 0 0 0 0 1
Nonsyndromic Deafness 0 1 0 0 0 0 1
Nonsyndromic hearing loss and deafness 0 1 0 0 0 0 1
PCDH15-Related Disorders 0 0 1 0 0 0 1
Progressive cone dystrophy (without rod involvement) 0 1 0 0 0 0 1
Retinitis pigmentosa 0 1 0 0 0 0 1
Schizophrenia 0 1 0 0 0 0 1
Small for gestational age 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 1 78 180 11 1 0 271
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 9 1 68 64 75 1 218
Illumina Clinical Services Laboratory,Illumina 0 0 86 10 0 0 96
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 52 8 27 0 89
GeneDx 4 1 15 23 19 0 62
PreventionGenetics 0 0 0 1 19 0 20
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 12 2 2 0 16
Integrated Genetics/Laboratory Corporation of America 5 1 1 1 7 0 15
OMIM 10 0 0 0 0 0 10
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 9 0 9
Fulgent Genetics 2 0 4 0 0 0 6
GeneReviews 5 0 0 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 5 0 0 0 5
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 3 1 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 1 0 4
Athena Diagnostics Inc 0 0 1 0 2 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 2 1 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 2 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 2 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
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 2 0 0 0 0 2
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 2 2
Department of Psychiatry,Nagoya University 0 2 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 2 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 0 0 1 0 0 0 1
Institute of Otorhinolaryngology, The First affiliated hospital,Sun Yat-sen University 1 0 0 0 0 0 1
ISCA site 1 1 0 0 0 0 0 1
ISCA site 6 0 0 1 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Centre de Biotechnologie de Sfax,Université de Sfax 1 0 0 0 0 0 1
National Institute on Deafness and Communication Disorders,National Institutes of Health 1 0 0 0 0 0 1
Hereditary Research Laboratory,Bethlehem University 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
NIHR Bioresource Rare Diseases,University of Cambridge 0 1 0 0 0 0 1

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