ClinVar Miner

Variants studied for Ceroid lipofuscinosis neuronal 1

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
19 85 46 7 2 1 148

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 not provided total
PPT1 19 85 46 7 2 1 148

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 9 4 36 6 2 0 57
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 50 0 0 0 0 50
Counsyl 3 36 9 0 0 0 48
OMIM 10 0 0 0 0 0 10
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 4
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 4 0 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 1 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 1 1 0 3
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1

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