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
128 80 493 283 115 4 1054

Gene and significance breakdown #

Total genes and gene combinations: 12
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GRN 58 8 252 204 21 0 538
DNAJC5 4 0 86 5 58 0 153
CLN6 38 58 41 4 3 3 118
CTSF 12 11 37 43 17 1 115
CTSD 9 3 54 11 13 0 83
GRN, LOC125177489 5 0 9 12 1 0 27
CTSD, LOC130005119 0 0 7 1 0 0 8
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
FAM171A2, GRN 1 0 0 0 0 0 1
SMPD1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 68 10 286 252 38 0 654
Illumina Laboratory Services, Illumina 0 0 139 11 67 0 217
Fulgent Genetics, Fulgent Genetics 8 30 37 21 1 0 97
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 5 2 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
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
3billion, Medical Genetics 0 3 1 1 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 0 5
Baylor Genetics 1 0 3 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
New York Genome Center 1 0 2 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
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 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, 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 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
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 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
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
Firoozgar Clinical Hospital, Iran University of Medical Sciences 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.