ClinVar Miner

Variants in gene USH1C

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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
25 40 198 170 90 428

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 9 7 42 113 62 214
not specified 0 0 57 53 48 150
Usher syndrome, type 1C; Deafness, autosomal recessive 18 2 26 64 13 0 105
Usher syndrome, type 1C 12 3 60 8 17 97
Nonsyndromic Hearing Loss, Recessive 0 0 35 10 1 46
Deafness, autosomal recessive 18 7 7 1 0 0 14
Usher syndrome type 1 5 4 0 0 1 10
Retinal dystrophy 1 2 1 0 0 4
Usher syndrome 1 3 0 0 0 4
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
Retinitis pigmentosa-deafness syndrome 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 3 12 104 33 159
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 55 40 38 135
Counsyl 5 29 65 13 0 112
Illumina Clinical Services Laboratory,Illumina 0 0 67 18 17 82
GeneDx 1 0 2 22 44 69
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 3 21 2 10 39
PreventionGenetics,PreventionGenetics 0 0 0 0 17 17
OMIM 12 0 1 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 2 3 11
Athena Diagnostics Inc 0 0 0 1 4 5
Baylor Genetics 3 1 0 0 0 4
GeneReviews 2 1 0 0 1 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 4
Blueprint Genetics 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 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
Division of Genomic Diagnostics,The 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
Myriad Women's Health, Inc. 1 0 0 0 0 1

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