ClinVar Miner

Variants studied for Usher syndrome type 1

Included ClinVar conditions (18):
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
219 475 2269 335 363 31 3417

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYO7A 101 217 651 90 90 11 1063
CDH23 39 25 701 105 112 8 916
PCDH15 39 158 545 76 69 5 832
USH1C 15 52 203 30 56 3 336
C10orf105, CDH23 6 5 79 17 15 1 113
USH1G 15 5 54 10 6 2 89
CDH23, PSAP 0 0 20 4 12 0 31
CDH23, LOC111982869 0 3 9 1 1 0 13
LOC105378311, PCDH15 1 3 5 0 2 0 10
CIB2 2 2 2 1 0 1 7
ADGRV1 0 2 0 0 0 0 2
USH2A 0 2 0 0 0 0 2
CDH23, VSIR 0 0 0 1 0 0 1
ESPN 1 0 0 0 0 0 1
LOC130061627, USH1G 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 75 27 1307 171 200 0 1780
Illumina Laboratory Services, Illumina 0 0 676 93 143 0 912
Counsyl 27 190 358 37 1 0 613
Fulgent Genetics, Fulgent Genetics 33 23 209 32 15 0 312
Genome-Nilou Lab 0 1 76 34 181 0 292
Myriad Genetics, Inc. 4 140 14 0 0 0 158
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 18 20 28 0 0 0 66
OMIM 40 0 3 0 0 0 43
GeneReviews 2 6 0 0 0 25 32
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 6 16 2 0 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 13 13 0 0 0 0 26
Baylor Genetics 8 8 4 0 1 0 19
Juno Genomics, Hangzhou Juno Genomics, Inc 5 5 9 0 0 0 19
Sharon lab, Hadassah-Hebrew University Medical Center 16 3 0 0 0 0 19
3billion 7 6 3 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 1 3 0 0 0 15
Ocular Genomics Institute, Massachusetts Eye and Ear 2 1 11 0 0 0 14
Pars Genome Lab 1 0 7 4 2 0 14
Mendelics 3 1 2 0 5 0 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 6 0 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 7 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 5 2 0 0 0 8
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 6 2 0 0 0 0 8
King Laboratory, University of Washington 4 3 0 0 0 0 7
Laboratory of Prof. Karen Avraham, Tel Aviv University 6 1 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 2 3 2 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 3 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 6 0 0 0 0 6
Molecular Genetics Laboratory, Institute for Ophthalmic Research 5 0 0 0 0 0 5
GeneID Lab - Advanced Molecular Diagnostics 0 5 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 5 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 3 1 1 0 0 0 5
DBGen Ocular Genomics 1 3 1 0 0 0 5
MGZ Medical Genetics Center 1 3 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 1 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 1 0 3
Institute of Human Genetics, Cologne University 2 1 0 0 0 0 3
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 3 0 0 0 3
Centre de Biotechnologie de Sfax, Université de Sfax 3 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 2 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 2 1 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 0 3 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 2 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 1 0 0 0 2
National Institute on Deafness and Communication Disorders, National Institutes of Health 2 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 1 0 0 0 2
ClinGen Hearing Loss Variant Curation Expert Panel 0 2 0 0 0 0 2
Department of Medical Genetics, College of Basic Medicine, Army Medical University 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
Biochemistry Laboratory of CDMU, Chengde Medical University 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Refractive Surgery Department, Bright Eye Hospital 0 2 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 1 0 0 0 0 2
Revvity Omics, Revvity 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town 1 0 0 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Key Research Laboratory of Chronic Disease Prevention and Treatment Mechanism of Integrated Traditional Chinese and Western Medicine, Changchun University of Chinese Medicine 1 0 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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