ClinVar Miner

Variants studied for Usher syndrome type 1D

Coded as:
Minimum submission review status: Collection method:
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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 total
34 63 332 43 104 562

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CDH23 21 13 267 33 84 406
PCDH15 7 47 14 0 0 68
C10orf105, CDH23 5 2 27 7 11 50
CDH23, PSAP 0 0 20 2 9 31
CDH23, LOC111982869 0 1 4 1 0 6
LOC105378311, PCDH15 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 267 29 71 367
Genome-Nilou Lab 0 0 34 19 64 117
Myriad Genetics, Inc. 1 41 5 0 0 47
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 11 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 6 1 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 2 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 6 0 0 8
OMIM 6 0 1 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 1 0 0 4
Pars Genome Lab 0 0 2 1 1 4
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 3 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 2 1 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 0 0 3
Baylor Genetics 0 1 1 0 0 2
Mendelics 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 2
INGEBI, INGEBI / CONICET 2 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 2
New York Genome Center 0 1 1 0 0 2
3billion 0 2 0 0 0 2
DBGen Ocular Genomics 0 1 1 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 1
National Institute on Deafness and Communication Disorders, National Institutes of Health 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 1

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