ClinVar Miner

Variants studied for Juvenile neuronal ceroid lipofuscinosis

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
14 76 7 2 0 93

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
CLN3 14 76 7 2 93

Submitter and significance breakdown #

Total submitters: 8
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign total
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 54 0 0 54
Counsyl 4 28 4 2 38
OMIM 4 0 0 0 4
Integrated Genetics/Laboratory Corporation of America 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 3
GeneReviews 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 0 0 0 2
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 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.