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
103 114 344 80 115 1 719

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PPT1 39 90 126 42 17 1 294
DNAJC5 3 0 83 4 58 0 148
GRN 18 1 40 19 12 0 89
CTSD 7 1 58 11 14 0 82
CLN6 25 21 33 0 3 0 75
CTSF 10 1 3 4 11 0 29
ASB16, ATXN7L3, G6PC3, GRN, HDAC5, HROB, LSM12, RUNDC3A, SLC25A39, SLC4A1, TMUB2, UBTF 0 0 1 0 0 0 1
SMPD1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 182 15 80 0 278
Invitae 48 12 116 61 24 0 261
Counsyl 1 53 29 0 0 0 83
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 50 0 0 0 0 50
OMIM 38 0 0 0 0 0 38
Natera, Inc. 5 0 18 1 6 0 30
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 4 1 4 0 0 0 9
Baylor Genetics 4 0 4 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
Broad Institute Rare Disease Group, Broad Institute 1 1 3 0 1 0 6
Myriad Women's Health, Inc. 3 3 0 0 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 4 0 5
Integrated Genetics/Laboratory Corporation of America 5 0 0 0 0 0 5
GeneReviews 5 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 5 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 3 1 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 3 1 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
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Laboratory of Genetics in Ophthalmology,Institut Imagine 1 1 0 0 0 0 2
New York Genome Center 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
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
Blueprint Genetics 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 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
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 1

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