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
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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
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 54 0 0 54
Counsyl 5 29 4 2 40
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

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