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 total
45 49 260 217 90 567

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 29 17 97 171 62 356
not specified 0 0 62 55 49 157
Usher syndrome, type 1C 12 4 98 9 20 137
Usher syndrome, type 1C; Deafness, autosomal recessive 18 2 26 64 13 0 105
Deafness, autosomal recessive 18 7 7 3 0 0 16
Usher syndrome type 1 5 4 1 0 1 11
none provided 0 0 0 1 7 8
Hearing impairment 0 1 6 0 0 7
Retinal dystrophy 1 2 1 0 0 4
Usher syndrome 1 3 0 0 0 4
Usher syndrome type 2 3 0 0 0 0 3
Autosomal recessive nonsyndromic deafness 0 2 0 0 0 2
Rare genetic deafness 2 0 0 0 0 2
Retinitis pigmentosa 2 0 0 0 0 2
Usher syndrome, type 1C; Deafness, autosomal recessive 18; Usher syndrome type 1 2 0 0 0 0 2
Inborn genetic diseases 1 0 0 0 0 1
Nonsyndromic Hearing Loss, Recessive 0 0 0 0 1 1
Retinitis pigmentosa-deafness syndrome 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 29 12 71 162 33 307
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 60 42 38 142
Counsyl 5 29 65 13 0 112
Illumina Clinical Services Laboratory,Illumina 0 0 57 8 17 82
GeneDx 1 0 2 22 44 69
Natera, Inc. 1 1 44 1 12 59
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 3 21 2 10 39
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 6 3 8 17
PreventionGenetics, PreventionGenetics 0 0 0 0 17 17
OMIM 12 0 1 0 0 13
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 1 6 0 0 7
Baylor Genetics 3 1 2 0 0 6
Athena Diagnostics Inc 0 0 0 1 4 5
GeneReviews 2 1 0 0 1 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 1 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 4
Molecular Genetics Laboratory,Institute for Ophthalmic Research 3 0 0 0 0 3
Blueprint Genetics 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 0 0 3
Sharon lab,Hadassah-Hebrew University Medical Center 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 1 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 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 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 1 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 1
Mendelics 0 0 0 0 1 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 1
Centre de Biotechnologie de Sfax,Université de Sfax 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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