ClinVar Miner

Variants studied for Congenital stationary night blindness 2A

Coded as:
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 total
16 12 11 2 6 47

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CACNA1F 15 10 10 2 6 43
CACNA1F, LOC126863257 1 2 1 0 0 4

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Laboratory of Genetics in Ophthalmology, Institut Imagine 4 4 0 0 0 8
OMIM 5 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 5 0 0 0 5
Mendelics 1 0 0 2 1 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 1 3 0 0 4
MGZ Medical Genetics Center 1 1 0 0 0 2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
DBGen Ocular Genomics 0 1 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.