ClinVar Miner

Variants in gene PCDH15

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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
109 122 669 414 161 4 1316

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 87 31 291 344 124 2 850
Usher syndrome type 1F 12 82 270 30 30 0 416
not specified 0 0 99 94 85 1 256
Usher syndrome type 1 4 1 109 18 17 0 149
Deafness, autosomal recessive 23 10 3 2 0 0 0 15
Usher syndrome type 1D 5 1 6 0 0 0 12
Rare genetic deafness 10 1 0 0 0 0 11
none provided 0 0 1 2 8 0 11
Deafness, autosomal recessive 23; Usher syndrome type 1D; Usher syndrome type 1F 4 0 6 0 0 0 10
Nonsyndromic Hearing Loss, Recessive 0 0 8 0 0 0 8
Retinitis pigmentosa-deafness syndrome 0 0 8 0 0 0 8
Retinal dystrophy 2 3 2 0 0 0 7
See cases 1 0 2 0 2 0 5
Hearing impairment 0 0 4 0 0 0 4
Usher syndrome 0 3 0 0 0 0 3
USHER SYNDROME, TYPE ID/F, DIGENIC 2 0 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
Autosomal recessive nonsyndromic deafness 0 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Non-Syndromic Hereditary Hearing Impairment 0 1 0 0 0 0 1
Nonsyndromic 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: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 76 26 225 329 46 0 702
Counsyl 1 78 180 11 1 0 271
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 10 2 87 70 77 1 247
Illumina Clinical Services Laboratory,Illumina 0 0 118 18 17 0 153
Natera, Inc. 2 0 92 18 26 0 138
GeneDx 6 1 15 34 72 0 128
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 52 8 27 0 89
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 16 3 12 0 31
Athena Diagnostics Inc 0 0 3 2 18 0 23
PreventionGenetics, PreventionGenetics 0 0 0 1 19 0 20
Integrated Genetics/Laboratory Corporation of America 5 2 0 2 11 0 20
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 5 4 0 0 15
OMIM 10 0 0 0 0 0 10
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 9 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 6 0 0 0 8
Mendelics 2 0 0 0 4 0 6
Fulgent Genetics,Fulgent Genetics 2 0 4 0 0 0 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 6 0 0 0 6
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 2 3 1 0 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 5 0 0 0 6
Lineagen, Inc 4 0 1 0 0 0 5
GeneReviews 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 1 0 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
Blueprint Genetics 2 1 1 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 1 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 0 0 0 0 4
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 0 4 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 2 1 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 2 0 0 0 3
National Institute on Deafness and Communication Disorders,National Institutes of Health 3 0 0 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
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
University of Washington Center for Mendelian Genomics, University of Washington 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
Nilou-Genome Lab 0 0 1 1 0 0 2
Ambry Genetics 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 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
Laboratory of Prof. Karen Avraham,Tel Aviv University 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
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1

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