ClinVar Miner

Variants studied for Ceroid lipofuscinosis neuronal 2

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 45 11 2 2 24 86

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
TPP1 18 45 11 2 2 24 86

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 7 35 10 2 0 0 54
UniProtKB/Swiss-Prot 0 0 0 0 0 22 22
OMIM 9 0 0 0 0 0 9
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 8 0 0 0 0 8
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 1 0 0 2 0 5
Fulgent Genetics,Fulgent Genetics 3 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 0 1 0 3
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 0 0 1 0 2
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 1 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1

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