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
39 68 451 68 108 4 715

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDH23 23 16 339 46 84 4 493
PCDH15 10 48 56 11 3 0 127
C10orf105, CDH23 5 3 31 7 12 0 55
CDH23, PSAP 0 0 20 2 9 0 31
CDH23, LOC111982869 0 1 5 1 0 0 7
CDH23, VSIR 0 0 0 1 0 0 1
LOC105378311, PCDH15 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 268 30 71 0 369
Fulgent Genetics, Fulgent Genetics 10 8 141 24 9 0 192
Genome-Nilou Lab 0 0 34 19 64 0 117
Myriad Genetics, Inc. 1 41 5 0 0 0 47
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 11 0 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 6 1 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 6 0 0 0 8
OMIM 6 0 1 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 0 0 0 4
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
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
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 Program, Stanford Medicine 2 0 0 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
3billion 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
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

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