ClinVar Miner

Variants studied for Usher syndrome type 1D

Included ClinVar conditions (7):
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
64 186 471 67 109 4 873

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDH23 39 74 345 45 84 4 567
PCDH15 17 101 68 11 3 0 199
C10orf105, CDH23 5 8 32 7 12 0 61
CDH23, PSAP 0 0 20 2 9 0 31
CDH23, LOC111982869 2 3 6 1 0 0 12
​intergenic 0 0 0 0 1 0 1
CDH23, VSIR 0 0 0 1 0 0 1
LOC105378311, PCDH15 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 267 29 71 0 367
Fulgent Genetics, Fulgent Genetics 28 118 148 24 9 0 327
Genome-Nilou Lab 0 0 34 19 64 0 117
Myriad Genetics, Inc. 1 41 5 0 0 0 47
Department of Pathology and Laboratory Medicine, Sinai Health System 1 4 11 0 1 0 17
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 11 0 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 7 1 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 2 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 6 0 0 0 8
OMIM 6 0 1 0 0 0 7
3billion 4 2 1 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 2 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 3 0 0 0 0 4
Pars Genome Lab 0 0 2 1 1 0 4
Institute of Rare Diseases, West China Hospital, Sichuan University 4 0 0 0 0 0 4
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 3 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 2 0 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 2 1 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 2
Mendelics 1 1 0 0 0 0 2
National Institute on Deafness and Communication Disorders, National Institutes of Health 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
INGEBI, INGEBI / CONICET 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
DBGen Ocular Genomics 0 1 1 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 0 1

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