ClinVar Miner

Variants studied for Usher syndrome type 2A

Included ClinVar conditions (4):
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 risk factor not provided total
275 370 1033 280 172 1 2 1963

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
USH2A 259 354 1000 273 168 0 2 1891
LOC122152296, USH2A 8 15 26 6 3 0 0 53
PDZD7 1 1 5 1 1 1 0 10
ADGRV1 4 0 0 0 0 0 0 4
CDH23 1 0 0 0 0 0 0 1
KCTD3, USH2A 0 0 1 0 0 0 0 1
LOC122152296, LOC126806009, LOC132088648, USH2A 1 0 0 0 0 0 0 1
LOC122152296, LOC132088648, USH2A 1 0 0 0 0 0 0 1
SFTPC 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Genome-Nilou Lab 119 187 470 182 123 0 0 1081
Natera, Inc. 101 19 535 102 91 0 0 848
Counsyl 60 159 211 31 0 0 0 461
Fulgent Genetics, Fulgent Genetics 37 15 86 27 9 0 0 174
Illumina Laboratory Services, Illumina 1 0 103 10 23 0 0 137
Myriad Genetics, Inc. 7 72 17 0 0 0 0 96
Mendelics 19 10 4 1 19 0 0 53
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 5 11 1 0 0 0 25
3billion 15 4 2 0 0 0 0 21
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 17 3 0 0 0 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 0 5 0 0 0 0 18
Baylor Genetics 11 3 3 0 0 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 9 4 2 0 0 0 0 15
OMIM 13 0 0 0 0 1 0 14
National Institute on Deafness and Communication Disorders, National Institutes of Health 10 0 0 0 0 0 0 10
DBGen Ocular Genomics 7 2 0 0 0 0 0 9
Genomics England Pilot Project, Genomics England 7 2 0 0 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 2 1 0 0 0 0 8
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 6 2 0 0 0 0 0 8
MGZ Medical Genetics Center 4 1 2 0 0 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 2 1 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 5 1 1 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 1 1 0 0 0 0 6
WangQJ Lab, Chinese People's Liberation Army General Hospital 2 2 2 0 0 0 0 6
Department of Ophthalmology and Visual Sciences Kyoto University 2 3 0 0 0 0 0 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 5 0 0 0 0 5
Pars Genome Lab 0 0 3 2 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 2 1 0 0 0 0 5
Institute of Human Genetics, University of Goettingen 1 2 0 1 0 0 0 4
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 3 0 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 2 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 1 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 0 1 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 2 0 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 2 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 3 0 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 0 2
King Laboratory, University of Washington 2 0 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 0 0 0 0 2
Rui Chen Lab, Baylor College of Medicine 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 2
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 1 0 1 0 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 2 0 0 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 1 0 0 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
FirmaLab, FirmaLab 1 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 0 1

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