ClinVar Miner

Variants in gene USH1C

Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
92 115 446 712 143 4 1352

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 79 38 307 675 134 1 1182
Usher syndrome type 1C 14 20 155 16 55 3 247
not specified 0 0 67 50 51 0 163
Autosomal recessive nonsyndromic hearing loss 18A 22 45 8 1 36 0 107
Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2 26 63 13 0 0 104
Inborn genetic diseases 1 0 24 0 0 0 25
Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrome type 1 4 1 12 2 1 0 20
USH1C-related condition 1 0 0 16 1 0 18
Usher syndrome type 1 4 4 1 0 0 3 11
Hearing impairment 0 1 6 0 0 0 7
Usher syndrome 3 5 0 0 0 0 7
Retinal dystrophy 1 2 1 0 0 0 4
Usher syndrome type 2 3 0 0 0 0 0 3
Hearing loss, autosomal recessive 0 2 0 0 0 0 2
Rare genetic deafness 2 0 0 0 0 0 2
Retinitis pigmentosa 2 0 0 0 0 0 2
Meniere disease 0 0 1 0 0 0 1
Nonsyndromic Hearing Loss, Recessive 0 0 0 0 1 0 1
Retinitis pigmentosa-deafness syndrome 0 0 0 0 1 0 1
See cases 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 78 29 256 603 54 0 1020
GeneDx 7 3 46 78 112 0 246
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 60 42 38 0 142
Natera, Inc. 7 2 101 7 21 0 138
Counsyl 4 29 64 13 0 0 110
Illumina Laboratory Services, Illumina 0 0 57 8 17 0 82
Baylor Genetics 20 37 3 1 0 0 59
Eurofins Ntd Llc (ga) 3 3 21 2 10 0 39
Genome-Nilou Lab 0 0 2 1 36 0 39
PreventionGenetics, part of Exact Sciences 1 0 0 16 18 0 35
Ambry Genetics 1 0 24 0 0 0 25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 7 6 8 0 21
Fulgent Genetics, Fulgent Genetics 4 1 12 2 1 0 20
Myriad Genetics, Inc. 2 14 2 0 0 0 18
OMIM 12 0 1 0 0 0 13
CeGaT Center for Human Genetics Tuebingen 1 2 3 6 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 8 1 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 1 1 5 1 0 10
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 0 0 5 0 8
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 1 6 0 0 0 7
Clinical Genetics, Academic Medical Center 0 0 1 1 4 0 6
Athena Diagnostics Inc 0 0 0 1 4 0 5
GeneReviews 0 1 0 0 0 3 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 0 4
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 2 2 0 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Molecular Genetics Laboratory, Institute for Ophthalmic Research 3 0 0 0 0 0 3
Revvity Omics, Revvity 3 0 0 0 0 0 3
Blueprint Genetics 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 0 0 0 3
Sharon lab, Hadassah-Hebrew University Medical Center 3 0 0 0 0 0 3
3billion 0 1 2 0 0 0 3
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
King Laboratory, University of Washington 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 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
Centre de Biotechnologie de Sfax, Université de Sfax 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Pars Genome Lab 0 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 1

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