ClinVar Miner

Variants studied for cone-rod dystrophy 3

Included ClinVar conditions (5):
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
108 89 39 1 22 2 248

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ABCA4 103 83 32 1 20 2 228
ABCA4, LOC126805793 5 6 4 0 2 0 17
USH2A 0 0 2 0 0 0 2
ABCA4, LOC126805794 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 75 60 24 0 5 0 164
Genome-Nilou Lab 0 0 0 0 17 0 17
Juno Genomics, Hangzhou Juno Genomics, Inc 10 4 2 0 0 0 16
OMIM 14 0 0 0 0 0 14
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 5 6 1 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 7 1 2 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 1 1 0 0 8
Genetics and Molecular Pathology, SA Pathology 2 1 3 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 1 0 0 0 5
Institute of Medical Molecular Genetics, University of Zurich 0 4 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 2 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 3 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 0 2
Moosajee Lab, UCL Institute of Ophthalmology 0 1 1 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 1 1 0 0 0 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
The Cell Therapy Center, The University of Jordan 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 0 1
DBGen Ocular Genomics 0 1 0 0 0 0 1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg 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.