ClinVar Miner

Variants studied for Usher syndrome

Included ClinVar conditions (32):
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
409 570 2666 375 410 1 4 4186

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
USH2A 187 224 517 97 96 0 0 1038
MYO7A 73 168 455 59 47 0 2 743
CDH23 22 10 430 53 70 0 2 558
PCDH15 18 87 382 41 33 0 0 539
ADGRV1 41 24 333 34 67 0 0 486
USH1C 19 34 154 22 21 0 0 237
WHRN 4 0 101 8 24 0 0 136
HARS1 2 1 93 13 10 0 0 117
CLRN1 17 16 63 12 8 0 0 110
USH1G 9 1 50 12 7 0 0 79
C10orf105, CDH23 5 1 49 10 9 0 0 69
CDH23, PSAP 0 0 23 11 12 0 0 34
LOC105378311, PCDH15 1 3 3 0 1 0 0 8
OTOP2, USH1G 1 1 5 0 0 0 0 7
CDH23, LOC111982869 1 0 4 1 1 0 0 6
PDZD7 1 0 1 0 0 1 0 3
CDH23, VSIR 0 0 0 0 2 0 0 2
PROM1 1 0 1 0 0 0 0 2
ARSG 1 0 0 0 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 0 0 1
BPNT1, C1orf115, DUSP10, EPRS1, ESRRG, GPATCH2, HHIPL2, HLX, IARS2, LINC00210, LINC01352, LINC01653, LINC01655, LINC01710, LINC02257, LINC02474, LINC02779, LINC02817, LINC02869, LOC107325941, LOC110121042, LOC111429604, LYPLAL1, LYPLAL1-DT, MARK1, MIR194-1, MIR215, MIR664A, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SNORA36B, SPATA17, TAF1A, TGFB2, TGFB2-OT1, TRT-TGT2-1, USH2A, ZC3H11B 0 1 0 0 0 0 0 1
CEP250 1 0 0 0 0 0 0 1
CIB2 1 0 0 0 0 0 0 1
CNKSR1 0 0 0 0 1 0 0 1
CRX 0 0 1 0 0 0 0 1
CRYGC, LOC100507443 0 0 0 0 1 0 0 1
ESPN 1 0 0 0 0 0 0 1
FRAS1 0 0 0 1 0 0 0 1
GUCA1A, LOC118142757 1 0 0 0 0 0 0 1
KCTD3, USH2A 0 0 1 0 0 0 0 1
LOC105378311, MIR548F1, PCDH15 0 1 0 0 0 0 0 1
MT-TS2 1 0 0 0 0 0 0 1
WDR36 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 1 1 1268 165 259 0 0 1685
Natera, Inc. 59 16 797 127 218 0 0 1217
Counsyl 90 365 601 73 2 0 0 1131
Invitae 1 0 91 13 9 0 0 114
Fulgent Genetics,Fulgent Genetics 29 4 64 0 0 0 0 97
Mendelics 20 13 7 1 47 0 0 88
OMIM 76 0 3 0 0 1 0 80
ClinGen Hearing Loss Variant Curation Expert Panel 10 19 28 9 7 0 0 73
Myriad Women's Health, Inc. 5 51 0 0 0 0 0 56
Sharon lab,Hadassah-Hebrew University Medical Center 43 10 0 0 0 0 0 53
NIHR Bioresource Rare Diseases, University of Cambridge 8 35 8 1 0 0 0 52
Molecular Genetics Laboratory,Institute for Ophthalmic Research 37 0 0 0 0 0 0 37
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 29 8 0 0 0 0 0 37
Centre for Mendelian Genomics,University Medical Centre Ljubljana 10 5 18 1 0 0 0 34
GeneReviews 22 9 0 0 1 0 0 32
Baylor Genetics 20 10 0 0 0 0 0 30
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 18 8 0 0 0 0 0 26
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 9 5 6 0 0 0 0 20
Integrated Genetics/Laboratory Corporation of America 14 4 0 0 0 0 0 18
Human Genetics - Radboudumc,Radboudumc 8 2 5 0 0 0 0 15
National Institute on Deafness and Communication Disorders,National Institutes of Health 13 0 0 0 0 0 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 5 5 0 0 0 0 11
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 8 0 0 0 0 10
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 6 3 0 0 0 0 0 9
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 7 2 0 0 0 0 0 9
Department of Ophthalmology and Visual Sciences Kyoto University 2 6 0 0 0 0 0 8
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 6 0 0 0 0 7
Broad Institute Rare Disease Group,Broad Institute 2 0 1 2 2 0 0 7
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 5 1 0 0 0 0 0 6
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 6 0 0 0 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 3 2 0 0 0 0 6
GeneID Lab - Advanced Molecular Diagnostics 0 6 0 0 0 0 0 6
SIB Swiss Institute of Bioinformatics 0 1 0 0 4 0 0 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 2 1 1 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 0 0 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
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 0 0 0 0 0 0 3
Centre de Biotechnologie de Sfax,Université de Sfax 3 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 1 0 0 0 0 3
Hereditary Research Laboratory,Bethlehem University 3 0 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 1 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 2 0 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 2 0 0 0 0 2
Rui Chen Lab,Baylor College of Medicine 2 0 0 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 2 0 0 0 0 0 2
The Cell Therapy Center,The University of Jordan 2 0 0 0 0 0 0 2
Genetic Services Laboratory,University of Chicago 1 0 0 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 0 1
FirmaLab 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 0 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine,University of Maryland School of Medicine 1 0 0 0 0 0 0 1
Kasturba Medical College,Manipal University 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1
Department of biochemistry and genetics, Arak University of Medical sciences 1 0 0 0 0 0 0 1

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