ClinVar Miner

Variants studied for Usher syndrome type 1

Included ClinVar conditions (16):
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
146 291 1535 199 198 4 2244

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYO7A 70 154 454 58 47 2 730
CDH23 22 9 426 53 70 2 551
PCDH15 20 84 374 42 33 0 529
USH1C 16 32 154 22 20 0 234
USH1G 9 1 47 10 6 0 73
C10orf105, CDH23 5 1 48 10 8 0 68
CDH23, PSAP 0 0 20 3 12 0 31
LOC105378311, PCDH15 1 3 3 0 1 0 8
OTOP2, USH1G 1 1 5 0 0 0 7
CDH23, LOC111982869 0 1 4 1 1 0 6
ADGRV1 0 2 0 0 0 0 2
CIB2 1 1 0 0 0 0 2
USH2A 0 2 0 0 0 0 2
ESPN 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 677 94 143 0 914
Natera, Inc. 19 9 586 73 144 0 831
Counsyl 28 192 366 37 1 0 624
Myriad Women's Health, Inc. 2 48 0 0 0 0 50
Fulgent Genetics,Fulgent Genetics 16 3 27 0 0 0 46
OMIM 40 0 3 0 0 0 43
GeneReviews 22 9 0 0 1 0 32
Sharon lab,Hadassah-Hebrew University Medical Center 16 3 0 0 0 0 19
Baylor Genetics 10 7 1 0 0 0 18
National Institute on Deafness and Communication Disorders,National Institutes of Health 6 3 5 0 0 0 14
Ocular Genomics Institute, Massachusetts Eye and Ear 2 1 11 0 0 0 14
Mendelics 2 2 0 0 5 0 9
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
Integrated Genetics/Laboratory Corporation of America 5 2 0 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 5 0 0 0 0 0 5
Nilou-Genome Lab 0 0 1 4 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 1 0 0 0 4
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
Human Genetics - Radboudumc,Radboudumc 2 0 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 0 0 3 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 1 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 2 0 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 0 2 0 0 0 0 2
Pars Genome Lab 0 0 1 1 0 0 2
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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 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
Department of biochemistry and genetics, Arak University of Medical sciences 1 0 0 0 0 0 1

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