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
71 143 890 133 176 25 1409

Gene and significance breakdown #

Total genes and gene combinations: 13
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDH23 20 7 488 65 75 4 655
MYO7A 40 122 230 37 66 10 483
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: 40
Download table as spreadsheet
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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 3 0 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
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
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
Neuberg Centre For Genomic Medicine, NCGM 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.