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
18 37 158 65 50 284

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 51 50 48 141
Usher syndrome, type 1C; Deafness, autosomal recessive 18 4 27 64 13 0 108
Nonsyndromic Hearing Loss, Recessive 0 0 35 10 1 46
Retinitis pigmentosa-deafness syndrome 0 0 35 10 1 46
not provided 3 4 29 0 1 37
Usher syndrome, type 1C 12 2 1 0 1 14
Deafness, autosomal recessive 18 5 5 0 0 0 10
Usher syndrome, type 1 2 3 0 0 1 6
Usher syndrome 1 3 0 0 0 4
Usher syndrome, type 1C; Deafness, autosomal recessive 18; Usher syndrome, type 1 2 0 0 0 0 2
Nonsyndromic hearing loss and deafness 0 1 0 0 0 1
Retinal dystrophy 0 0 1 0 0 1
Retinitis pigmentosa 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 50 37 38 128
Counsyl 5 28 64 13 0 110
Illumina Clinical Services Laboratory,Illumina 0 0 35 10 1 46
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 3 21 2 10 39
GeneDx 0 0 2 13 16 31
PreventionGenetics 0 0 0 0 17 17
OMIM 12 0 1 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 1 1 7
GeneReviews 2 1 0 0 1 4
NIHR Bioresource Rare Diseases,University of Cambridge 1 3 0 0 0 4
Fulgent Genetics 2 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 1

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