ClinVar Miner

Variants studied for adult neuronal ceroid lipofuscinosis

Included ClinVar conditions (9):
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
69 106 95 10 17 1 274

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PPT1 19 86 46 3 1 1 144
CLN6 25 17 28 0 2 0 65
GRN 6 2 17 0 1 0 26
CTSD 7 1 2 7 9 0 21
CTSF 8 0 2 0 4 0 14
DNAJC5 3 0 0 0 0 0 3
SMPD1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 4 53 29 0 0 0 86
Invitae 14 5 52 2 1 0 74
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 50 0 0 0 0 50
OMIM 38 0 0 0 0 0 38
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 7 8 0 15
Fulgent Genetics,Fulgent Genetics 1 0 11 0 0 0 12
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 9 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 3 2 0 0 0 8
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 7 0 0 0 1 0 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 4 0 5
GeneReviews 5 0 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 3 1 0 5
Broad Institute Rare Disease Group,Broad Institute 1 1 3 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 4 0 0 0 0 4
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 3 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 3 0 0 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 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
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Child Neurology Division, Pediatrics Department,KAHER's Jawaharlal Nehru Medical College, Belagavi 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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