ClinVar Miner

Variants studied for Usher syndrome type 1

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

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
117 265 1126 134 177 25 1806

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDH23 34 89 694 69 84 4 968
MYO7A 73 155 233 36 66 10 544
PCDH15 2 1 111 18 17 4 152
C10orf105, CDH23 2 5 78 11 8 1 104
CDH23, LOC111982869 0 6 7 0 1 0 14
USH1C 3 4 2 0 0 3 11
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: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 31 99 772 80 92 0 1074
Illumina Laboratory Services, Illumina 0 0 300 45 50 0 395
Myriad Genetics, Inc. 6 95 6 0 0 0 107
Genome-Nilou Lab 0 1 21 8 43 0 73
GeneReviews 1 6 0 0 0 24 31
3billion 15 7 3 0 0 0 25
Sharon lab, Hadassah-Hebrew University Medical Center 16 3 0 0 0 0 19
Baylor Genetics 8 7 3 0 0 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 5 8 1 0 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 15 0 1 0 16
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 4 0 0 0 0 11
Counsyl 2 6 1 0 0 0 9
Institute of Rare Diseases, West China Hospital, Sichuan University 6 0 0 0 0 0 6
Hereditary Deafness Genetic Testing Group, The First Affiliated Hospital of Zhengzhou University 0 5 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 2 1 0 0 0 5
King Laboratory, University of Washington 2 3 0 0 0 0 5
Molecular Genetics Laboratory, Institute for Ophthalmic Research 5 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 3 1 1 0 0 0 5
Variantyx, Inc. 3 2 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 3 0 0 0 0 4
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 1 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 0 0 0 0 4
Pars Genome Lab 1 0 2 1 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 4
DBGen Ocular Genomics 1 2 0 0 0 0 3
Mendelics 1 0 2 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 0 3 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 2
Department of Medical Genetics, College of Basic Medicine, Army Medical University 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
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
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
OLLIN Analises Genomicas, OLLIN 1 1 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 0 0 0 0 2
Refractive Surgery Department, Bright Eye Hospital 0 2 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Centre de Biotechnologie de Sfax, Université de Sfax 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 1 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 1 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 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
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1
OMIM 0 0 1 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
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1

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