ClinVar Miner

Variants studied for Juvenile neuronal ceroid lipofuscinosis

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 76 57 6 5 153

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 benign total
CLN3 16 76 57 6 5 153

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 51 3 4 58
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 54 0 0 0 54
Counsyl 5 29 4 2 0 40
Integrated Genetics/Laboratory Corporation of America 3 3 0 0 0 6
OMIM 4 0 0 0 0 4
Natera Inc 0 0 2 1 1 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
GeneReviews 2 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 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 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 1

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