ClinVar Miner

Variants studied for late infantile neuronal ceroid lipofuscinosis

Included ClinVar conditions (13):
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
237 295 813 413 97 38 1719

Gene and significance breakdown #

Total genes and gene combinations: 18
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MFSD8 104 54 344 347 28 0 840
TPP1 42 74 183 18 26 28 324
CLN5 35 72 87 13 18 2 189
CLN8 13 46 77 14 4 4 137
CLN6 26 36 41 3 2 3 94
CTSD 9 1 53 11 13 0 80
CLN5, LOC130009913 5 12 12 3 3 1 31
CTSD, LOC130005119 0 0 7 1 0 0 8
CTSD, PRADX 0 0 3 3 2 0 6
LOC129993055, LOC129993056, LOC129993057, MFSD8 0 0 2 0 0 0 2
ABHD18, HSPA4L, INTU, LARP1B, MFSD8, PLK4, SLC25A31 1 0 0 0 0 0 1
ABHD18, LARP1B, MFSD8, PLK4 0 0 1 0 0 0 1
ABHD18, LOC129993055, LOC129993056, LOC129993057, LOC129993058, MFSD8 1 0 0 0 0 0 1
ABHD18, LOC129993058, MFSD8 0 0 1 0 0 0 1
ABHD18, MFSD8 0 0 0 0 1 0 1
HSPA4L, INTU, MFSD8, PLK4, SLC25A31 0 0 1 0 0 0 1
MFSD8, PLK4 0 0 1 0 0 0 1
SMPD1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 92
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 88 31 287 335 21 0 762
Natera, Inc. 23 6 285 19 35 0 368
Illumina Laboratory Services, Illumina 5 1 194 27 46 0 273
Counsyl 8 96 48 4 1 0 157
Fulgent Genetics, Fulgent Genetics 16 9 48 24 1 0 98
Genome-Nilou Lab 22 10 38 8 19 0 97
Baylor Genetics 25 30 10 0 0 0 65
OMIM 56 0 0 0 0 0 56
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 40 0 0 0 0 41
Myriad Genetics, Inc. 5 22 2 0 0 0 29
Neuberg Centre For Genomic Medicine, NCGM 5 10 9 0 0 0 24
UniProtKB/Swiss-Prot 0 0 0 0 0 22 22
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 8 9 4 0 1 0 22
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 10 4 0 0 0 19
Revvity Omics, Revvity 5 2 10 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 14 2 0 0 16
Mendelics 8 7 0 0 0 0 15
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 3 7 0 0 0 14
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 7 7 0 0 0 0 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 2 5 0 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 1 0 1 7 0 11
GeneReviews 3 0 0 0 0 7 10
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism 9 0 0 0 1 0 10
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 6 4 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 2 0 0 0 9
3billion 1 3 5 0 0 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 1 6 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 1 0 3 2 0 8
Genetic Services Laboratory, University of Chicago 5 2 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 2 1 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 3 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 2 1 0 0 0 5
New York Genome Center 1 0 4 0 0 0 5
MGZ Medical Genetics Center 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 4 0 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 0 0 2 2 0 4
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 2 0 2 0 0 0 4
De Paul lab, Instituto de Investigacion En Ciencias de La Salud , Consejo Nacional de Investigaciones Cientificas y Tecnicas 3 1 0 0 0 0 4
Blueprint Genetics 2 1 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 2 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 1 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 2 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 1 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
Pars Genome Lab 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Bioinformatics Unit, Institut Pasteur de Montevideo 0 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 2 0 0 0 0 0 2
Dr.Nikuei Genetic Center 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
Neurogenetics, Cyprus Institute of Neurology and Genetics 0 1 0 0 0 0 1
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
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Human Genetics Research Lab, Central University of Jammu 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 0 0 1
Tim Yu lab, Boston Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Genotek, Genotek Ltd. 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 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
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 1 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
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1
Igenomix - Part of Vitrolife Group, Igenomix 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.