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
202 453 2251 336 362 31 3372

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 93 208 641 89 90 11 1043
CDH23 35 22 697 106 112 8 906
PCDH15 34 152 544 76 69 5 822
USH1C 16 48 201 31 55 3 332
C10orf105, CDH23 6 5 78 17 15 1 112
USH1G 14 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: 68
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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 0 677 94 143 0 914
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 13 0 0 0 0 25
Baylor Genetics 9 8 4 1 0 0 19
Sharon lab, Hadassah-Hebrew University Medical Center 16 3 0 0 0 0 19
3billion 7 5 4 0 0 0 16
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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 6 0 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 5 0 0 0 8
King Laboratory, University of Washington 4 3 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 1 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 3 0 0 0 0 6
Molecular Genetics Laboratory, Institute for Ophthalmic Research 5 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 2 1 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
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
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
Institute of Human Genetics, Cologne University 1 1 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
Laboratory of Prof. Karen Avraham, Tel Aviv University 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
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 Program, 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
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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 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

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