ClinVar Miner

Variants studied for Neuronal ceroid lipofuscinosis 7

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
102 48 342 342 29 840

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MFSD8 100 48 336 342 28 831
LOC129993055, LOC129993056, LOC129993057, MFSD8 0 0 2 0 0 2
ABHD18, HSPA4L, INTU, LARP1B, MFSD8, PLK4, SLC25A31 1 0 0 0 0 1
ABHD18, LARP1B, MFSD8, PLK4 0 0 1 0 0 1
ABHD18, LOC129993055, LOC129993056, LOC129993057, LOC129993058, MFSD8 1 0 0 0 0 1
ABHD18, LOC129993058, MFSD8 0 0 1 0 0 1
ABHD18, MFSD8 0 0 0 0 1 1
HSPA4L, INTU, MFSD8, PLK4, SLC25A31 0 0 1 0 0 1
MFSD8, PLK4 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 85 30 287 335 21 758
Illumina Laboratory Services, Illumina 1 1 53 8 14 77
OMIM 11 0 0 0 0 11
Mendelics 4 4 0 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 2 1 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 3 1 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 1 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 2 1 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 2 0 0 3
MGZ Medical Genetics Center 2 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 2
GeneReviews 2 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 2 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 2 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 1 0 0 2
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Tim Yu lab, Boston Children's Hospital 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 1
Genotek, Genotek Ltd. 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 0 0 1 0 0 1
Genome-Nilou Lab 0 0 1 0 0 1
Pars Genome Lab 0 0 1 0 0 1
3billion 1 0 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 0 0 0 0 1

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