ClinVar Miner

Variants studied for Usher syndrome type 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
74 145 890 133 176 25 1414

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDH23 20 7 488 65 75 4 655
MYO7A 43 124 230 37 66 10 488
PCDH15 2 1 109 18 17 4 150
C10orf105, CDH23 2 2 54 11 8 1 77
CDH23, PSAP 0 0 3 2 8 0 13
USH1C 4 4 1 0 0 3 11
CDH23, LOC111982869 0 2 4 0 1 0 7
USH1G 2 1 0 0 0 2 5
ADGRV1 0 2 0 0 0 0 2
LOC105378311, PCDH15 0 0 1 0 1 0 2
USH2A 0 2 0 0 0 0 2
CIB2 0 0 0 0 0 1 1
ESPN 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 17 10 549 78 92 0 746
Illumina Laboratory Services, Illumina 0 0 301 46 50 0 397
Myriad Genetics, Inc. 1 85 7 0 0 0 93
Genome-Nilou Lab 0 1 21 8 43 0 73
GeneReviews 1 6 0 0 0 24 31
Sharon lab, Hadassah-Hebrew University Medical Center 16 3 0 0 0 0 19
Baylor Genetics 9 7 2 0 0 0 18
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 4 7 1 0 0 14
3billion 6 2 2 0 0 0 10
Counsyl 2 6 1 0 0 0 9
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 3 0 0 0 0 6
Molecular Genetics Laboratory, Institute for Ophthalmic Research 5 0 0 0 0 0 5
King Laboratory, University of Washington 2 3 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 2 1 0 0 0 5
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 1 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 3 0 0 0 0 4
Pars Genome Lab 1 0 2 1 0 0 4
SIB Swiss Institute of Bioinformatics 0 0 0 0 3 0 3
DBGen Ocular Genomics 1 2 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 2 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Mendelics 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Refractive Surgery Department, Bright Eye Hospital 0 2 0 0 0 0 2
OMIM 0 0 1 0 0 0 1
Centre de Biotechnologie de Sfax, Université de Sfax 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 1 0 0 0 0 1
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 0 0 0 0 0 1

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