ClinVar Miner

Variants studied for Neuronal ceroid lipofuscinosis 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 not provided total
18 49 51 7 15 1 132

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CLN5, FBXL3 15 42 35 4 11 0 99
CLN5 3 7 16 3 4 1 33

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 36 4 14 0 54
Counsyl 2 27 12 1 0 0 42
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 22 0 0 0 0 23
OMIM 10 0 0 0 0 0 10
Integrated Genetics/Laboratory Corporation of America 1 3 0 0 0 0 4
Genetic Services Laboratory,University of Chicago 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 1 0 1 1 0 3
Mendelics 1 1 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 1 1 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1

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