ClinVar Miner

Variants in gene CLN8

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 not provided total
54 59 249 232 25 4 545

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Neuronal ceroid lipofuscinosis 44 15 195 210 7 0 461
Neuronal ceroid lipofuscinosis 8 13 44 71 10 4 3 127
not provided 3 5 71 20 11 0 104
Inborn genetic diseases 2 3 26 16 4 0 51
not specified 0 0 13 20 13 0 42
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant; Neuronal ceroid lipofuscinosis 8 0 4 13 4 0 0 20
CLN8-related condition 0 0 0 8 1 0 9
Intellectual disability 0 0 2 2 0 0 4
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1 0 1 0 2 1 4
See cases 1 0 1 0 0 0 2
CLN8-related disorder 0 1 0 0 0 0 1
Central core myopathy 0 0 0 0 1 0 1
Neuronal ceroid lipofuscinosis 1 0 0 1 0 0 0 1
Seizure 0 0 1 0 0 0 1
Seizure; Intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 44 9 187 210 7 0 457
GeneDx 2 3 50 32 19 0 106
Natera, Inc. 1 1 70 8 2 0 82
Ambry Genetics 2 3 26 16 4 0 51
Counsyl 1 19 5 1 1 0 27
Eurofins Ntd Llc (ga) 0 0 19 0 4 0 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 5 9 1 0 0 18
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 18 0 0 0 0 18
Fulgent Genetics, Fulgent Genetics 0 2 9 4 0 0 15
PreventionGenetics, part of Exact Sciences 0 0 0 9 2 0 11
Athena Diagnostics Inc 0 0 4 0 5 0 9
Mendelics 0 5 4 0 0 0 9
OMIM 7 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 1 1 1 2 1 0 6
Revvity Omics, Revvity 0 2 4 0 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 3 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 2 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 2 0 4
3billion 0 1 3 0 0 0 4
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 2 2 0 0 0 0 4
CeGaT Center for Human Genetics Tuebingen 1 0 1 1 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 1 0 3
Baylor Genetics 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Myriad Genetics, Inc. 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Bioinformatics Unit, Institut Pasteur de Montevideo 0 2 0 0 0 0 2
GeneReviews 0 0 0 0 0 1 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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