ClinVar Miner

Variants studied for Ceroid lipofuscinosis neuronal 5

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
17 47 16 3 2 78

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
CLN5, FBXL3 15 41 9 1 2 61
CLN5 2 6 7 2 0 17

Submitter and significance breakdown #

Total submitters: 16
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 2 26 12 1 0 41
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 22 0 0 0 23
OMIM 10 0 0 0 0 10
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 1 2 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 2 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 1 0 1 1 3
Mendelics 1 1 0 0 0 2
GeneReviews 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 1 1 2
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 1
Ege University Pediatric Genetics,Ege University 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 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.