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
115 54 467 255 115 4 968

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GRN 51 9 235 182 21 0 494
DNAJC5 4 0 83 5 58 0 150
CLN6 35 40 40 4 3 3 102
CTSF 11 4 34 39 17 1 100
CTSD 8 1 53 11 13 0 79
GRN, LOC125177489 5 0 9 10 1 0 25
CTSD, LOC130005119 0 0 6 1 0 0 7
CTSD, PRADX 0 0 3 3 2 0 6
DNAJC5, LOC130066405 0 0 3 0 0 0 3
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: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 59 10 267 225 38 0 599
Illumina Laboratory Services, Illumina 0 0 139 11 67 0 217
Fulgent Genetics, Fulgent Genetics 1 2 32 21 1 0 57
Counsyl 1 14 20 0 0 0 35
OMIM 33 0 0 0 0 0 33
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 6 8 0 14
Revvity Omics, Revvity 1 3 8 0 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 9 0 10
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism 7 0 0 0 1 0 8
Mendelics 5 2 0 0 0 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 1 0 0 7
Myriad Genetics, Inc. 1 6 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 2 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 4 2 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 4 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 3 0 1 0 5
Baylor Genetics 1 0 3 0 0 0 4
3billion 0 3 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 3 0 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
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 0 3
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 2 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 0 2
Neurogenetics Department, Cyprus Institute of Neurology and Genetics 0 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 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 Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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