ClinVar Miner

Variants studied for Usher syndrome type 3

Included ClinVar conditions (7):
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
22 21 374 172 29 2 609

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HARS1 2 1 288 149 16 1 455
CLRN1 19 19 66 13 11 1 121
HARS1, LOC129994848 0 1 19 10 2 0 31
DND1, HARS1, HARS2 0 0 1 0 0 0 1
USH2A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 1 308 159 18 0 487
Illumina Laboratory Services, Illumina 2 0 36 4 7 0 49
Natera, Inc. 7 1 21 4 2 0 35
Counsyl 2 13 11 5 1 0 32
Fulgent Genetics, Fulgent Genetics 5 1 3 0 1 0 10
OMIM 9 0 0 0 0 0 9
Sharon lab, Hadassah-Hebrew University Medical Center 4 1 0 0 0 0 5
Pars Genome Lab 0 0 0 0 5 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 0 0 4
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 3 0 0 0 0 0 3
Baylor Genetics 1 1 0 0 0 0 2
National Institute on Deafness and Communication Disorders, National Institutes of Health 2 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 1 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 2 0 0 0 0 0 2
The Cell Therapy Center, The University of Jordan 2 0 0 0 0 0 2
Myriad Genetics, Inc. 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 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
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.