ClinVar Miner

Variants studied for Neuronal ceroid lipofuscinosis 6

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
22 16 27 0 2 62

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CLN6 21 16 27 2 61
SMPD1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance benign total
Counsyl 1 15 20 0 36
OMIM 10 0 0 0 10
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 7 0 0 1 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 0 5
Broad Institute Rare Disease Group,Broad Institute 1 0 3 0 4
GeneReviews 3 0 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 2
Genetic Services Laboratory,University of Chicago 1 0 0 0 1
Mendelics 1 0 0 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 1 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 1
Child Neurology Division, Pediatrics Department,KAHER's Jawaharlal Nehru Medical College, Belagavi 1 0 0 0 1

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