ClinVar Miner

Variants in gene WHRN

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
34 10 482 336 82 1 848

Condition and significance breakdown #

Total conditions: 17
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 26 5 390 306 76 0 759
Autosomal recessive nonsyndromic hearing loss 31 3 0 110 6 17 0 136
Usher syndrome type 2D 5 1 99 7 21 0 133
not specified 0 1 49 45 33 0 126
WHRN-related condition 0 0 0 18 0 0 18
Autosomal recessive nonsyndromic hearing loss 31; Usher syndrome type 2D 1 0 12 1 0 1 15
Inborn genetic diseases 0 0 10 0 0 0 10
Retinitis pigmentosa-deafness syndrome 0 0 1 1 4 0 6
Hearing impairment 0 0 3 1 0 0 4
Usher syndrome 2 1 0 0 0 0 3
Nonsyndromic Hearing Loss, Recessive 0 0 1 1 0 0 2
Rare genetic deafness 2 0 0 0 0 0 2
Retinal dystrophy 0 0 2 0 0 0 2
DFNB31-Related Disorders 0 0 1 0 0 0 1
Deafness 1 0 0 0 0 0 1
Hearing loss, autosomal recessive 0 1 0 0 0 0 1
Ocular albinism, type II 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 2 358 267 45 0 697
GeneDx 0 3 49 50 52 0 154
Illumina Laboratory Services, Illumina 0 0 109 14 21 0 129
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 38 42 30 0 112
Eurofins Ntd Llc (ga) 1 0 26 1 11 0 39
PreventionGenetics, part of Exact Sciences 0 0 0 19 7 0 26
CeGaT Center for Human Genetics Tuebingen 0 0 4 9 1 0 14
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 9 0 3 0 13
Fulgent Genetics, Fulgent Genetics 1 0 10 1 0 0 12
Athena Diagnostics Inc 0 0 2 4 5 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 4 6 1 0 11
Genome-Nilou Lab 0 0 0 0 11 0 11
Ambry Genetics 0 0 10 0 0 0 10
Clinical Genetics, Academic Medical Center 0 0 3 3 3 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 7 0 0 0 9
OMIM 6 0 0 0 0 0 6
Mendelics 0 0 0 0 4 0 4
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 3 1 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 3 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.