ClinVar Miner

Variants studied for Usher syndrome type 2C

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
37 32 348 36 83 1 523

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
ADGRV1 35 30 347 34 74 1 507
PDZD7 1 1 1 0 7 0 10
ADGRV1, LOC123497934, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273 1 0 0 0 0 0 1
ADGRV1, LOC129389321 0 1 0 0 0 0 1
CNKSR1 0 0 0 0 1 0 1
CRYGC, LOC100507443 0 0 0 0 1 0 1
FRAS1 0 0 0 1 0 0 1
WDR36 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 1 312 34 62 0 409
Genome-Nilou Lab 0 0 0 0 28 0 28
Mendelics 4 1 2 0 7 0 14
Baylor Genetics 1 1 10 0 0 0 12
Ocular Genomics Institute, Massachusetts Eye and Ear 1 2 7 0 0 0 10
OMIM 8 0 0 0 0 0 8
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 3 0 0 0 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 1 3 0 0 0 6
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 4 2 0 0 0 0 6
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 3 3 0 0 0 6
King Laboratory, University of Washington 1 3 0 0 0 0 4
Laboratory of Prof. Karen Avraham, Tel Aviv University 3 1 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 1 3 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 2 2 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
INGEBI, INGEBI / CONICET 2 0 0 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 0 2
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 0 2 0 0 0 0 2
DECIPHERD-UDD, Universidad del Desarrollo 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 1 0 0 0 0 0 1
DBGen Ocular Genomics 0 0 1 0 0 0 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
UAEU Genomics Laboratory, United Arab Emirates University 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 0 0 0 0 1

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