ClinVar Miner

Variants in gene WHRN

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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 total
17 6 272 111 59 393

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 7 3 169 67 35 264
Deafness, autosomal recessive 31 3 0 110 6 13 132
Usher syndrome, type 2D 4 0 99 7 21 131
not specified 0 1 42 49 33 121
Retinitis pigmentosa-deafness syndrome 0 0 1 1 6 8
Hearing impairment 0 0 3 1 0 4
none provided 0 0 3 0 1 4
Deafness, autosomal recessive 31; Usher syndrome, type 2D 0 0 2 0 0 2
Nonsyndromic Hearing Loss, Recessive 0 0 1 1 0 2
Rare genetic deafness 2 0 0 0 0 2
Retinal dystrophy 0 0 2 0 0 2
Autosomal recessive nonsyndromic deafness 0 1 0 0 0 1
DFNB31-Related Disorders 0 0 1 0 0 1
Deafness 1 0 0 0 0 1
Ocular albinism, type II 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 2 149 59 22 238
Illumina Clinical Services Laboratory,Illumina 0 0 109 14 21 129
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 38 42 30 112
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 26 1 11 39
GeneDx 0 1 3 14 18 36
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 9 0 2 12
Athena Diagnostics Inc 0 0 2 4 4 10
PreventionGenetics, PreventionGenetics 0 0 0 1 7 8
OMIM 6 0 0 0 0 6
Mendelics 0 0 0 0 6 6
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 0 3 1 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 3 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 3
Baylor Genetics 0 0 2 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 0 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 0 2 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 1
Center for Statistical Genetics, Columbia University 1 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 1

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