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
21 48 59 10 10 24 152

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 21 48 59 10 10 24 152

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 2 0 49 8 9 0 68
Counsyl 4 36 11 2 0 0 53
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, FRIGE's Institute of Human Genetics 0 8 0 0 0 0 8
Baylor Genetics 6 0 0 0 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 1 0 0 2 0 5
Integrated Genetics/Laboratory Corporation of America 2 1 0 0 0 0 3
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
Myriad Women's Health, Inc. 3 0 0 0 0 0 3
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
GeneReviews 2 0 0 0 0 0 2
Blueprint Genetics 1 1 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 1 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
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 1

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