ClinVar Miner

Variants in gene PCDH15

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
347 396 1576 1731 256 27 3862

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 280 93 918 1685 230 2 3058
Usher syndrome type 1F 51 145 598 61 66 0 882
Inborn genetic diseases 0 0 315 13 0 0 328
not specified 4 0 131 92 89 1 299
Autosomal recessive nonsyndromic hearing loss 23 60 122 27 1 12 0 219
Usher syndrome type 1 2 1 111 18 17 4 152
Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 13 54 56 11 3 0 136
PCDH15-related disorder 2 4 24 44 10 0 84
Usher syndrome type 1D 7 50 15 0 0 0 72
Retinal dystrophy 4 3 12 0 0 0 19
Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1F 1 9 0 0 0 1 11
Rare genetic deafness 10 1 0 0 0 0 11
Usher syndrome 4 5 0 0 0 0 9
Cholangiocarcinoma 0 0 0 0 0 4 4
Hearing impairment 0 0 4 0 0 0 4
See cases 1 0 2 0 1 0 4
Familial cancer of breast 0 0 0 0 0 3 3
Hearing loss, autosomal recessive 1 1 1 0 0 0 3
Lung cancer 0 0 0 0 0 3 3
Optic atrophy 0 0 3 0 0 0 3
Uterine carcinosarcoma 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 2 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
Schizophrenia 0 1 1 0 0 0 2
Thymoma 0 0 0 0 0 2 2
USHER SYNDROME, TYPE ID/F, DIGENIC 2 0 0 0 0 0 2
Usher syndrome type 1G 0 0 0 0 0 2 2
Autism 0 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D 1 0 0 0 0 0 1
Cervical cancer 0 0 0 0 0 1 1
Childhood onset hearing loss 1 0 0 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Ear malformation 0 1 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Meniere disease 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
Progressive cone dystrophy (without rod involvement) 0 1 0 0 0 0 1
Retinitis pigmentosa 0 1 0 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Small for gestational age 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 101
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 267 67 701 1566 93 0 2694
GeneDx 12 5 230 124 178 0 549
Natera, Inc. 18 50 400 44 37 0 549
Ambry Genetics 0 0 315 13 0 0 328
Counsyl 1 78 177 11 1 0 268
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 10 2 89 72 77 1 251
Illumina Laboratory Services, Illumina 0 0 109 18 17 0 144
Baylor Genetics 28 96 4 0 0 0 128
Fulgent Genetics, Fulgent Genetics 12 52 46 11 3 0 124
Breakthrough Genomics, Breakthrough Genomics 0 0 13 24 70 0 107
PreventionGenetics, part of Exact Sciences 2 4 24 45 29 0 104
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 12 37 10 16 0 94
Eurofins Ntd Llc (ga) 2 0 52 8 27 0 89
CeGaT Center for Human Genetics Tuebingen 8 2 23 47 5 0 85
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 19 20 28 0 0 0 66
Genome-Nilou Lab 0 1 18 6 36 0 61
Myriad Genetics, Inc. 4 44 5 0 0 0 53
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 16 4 15 0 35
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 4 19 7 0 33
Institute of Rare Diseases, West China Hospital, Sichuan University 17 14 0 0 0 0 31
Clinical Genetics, Academic Medical Center 0 0 3 7 18 0 28
Athena Diagnostics 0 0 4 2 18 0 24
Mayo Clinic Laboratories, Mayo Clinic 0 0 9 1 14 0 24
Revvity Omics, Revvity 3 12 9 0 0 0 24
Department of Pathology and Laboratory Medicine, Sinai Health System 1 3 14 0 0 0 18
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 18 18
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 2 0 13 0 0 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 2 1 5 0 11
OMIM 10 0 0 0 0 0 10
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 8 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 6 0 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 3 0 0 0 0 8
Laboratory of Prof. Karen Avraham, Tel Aviv University 4 2 2 0 0 0 8
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 8 0 0 0 8
Mendelics 3 0 0 0 4 0 7
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 2 3 1 0 0 0 6
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 4 0 1 0 0 0 5
Bionano Laboratories 4 0 1 0 0 0 5
GeneReviews 0 0 0 0 0 5 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 2 0 0 0 5
King Laboratory, University of Washington 3 2 0 0 0 0 5
Pars Genome Lab 0 0 3 1 1 0 5
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 3 2 0 0 0 0 5
AiLife Diagnostics, AiLife Diagnostics 0 4 0 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
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 3 0 0 0 4
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 4 0 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 1 0 0 0 4
3billion 3 0 0 0 0 0 3
Dasa 3 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 2 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 2 1 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 0 0 0 3
National Institute on Deafness and Communication Disorders, National Institutes of Health 3 0 0 0 0 0 3
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 1 1 0 0 0 3
Biochemistry Laboratory of CDMU, Chengde Medical University 0 2 0 0 0 0 2
Center for Statistical Genetics, Columbia University 1 0 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 2 0 0 0 2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 0 0 0 2
Department of Psychiatry, Nagoya University 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
MGZ Medical Genetics Center 0 2 0 0 0 0 2
Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital 0 0 2 0 0 0 2
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 2 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Wonkam Laboratory, Johns Hopkins University 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Centre de Biotechnologie de Sfax, Université de Sfax 1 0 0 0 0 0 1
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 1 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Faculty of Health Sciences, Beirut Arab University 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Hereditary Deafness Genetic Testing Group, The First Affiliated Hospital of Zhengzhou University 0 1 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 1 0 0 0 0 0 1
ISCA Site 6 0 0 1 0 0 0 1
ISCA site 1 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 1 1
Institute of Otorhinolaryngology, The First affiliated hospital, Sun Yat-sen University 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 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
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1

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