ClinVar Miner

Variants in gene CLN6

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
46 36 201 126 41 9 386

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Neuronal ceroid lipofuscinosis 18 9 147 77 19 0 255
not provided 13 6 51 26 8 9 107
Neuronal ceroid lipofuscinosis 6 21 18 29 0 2 0 65
not specified 0 0 6 41 19 0 56
Seizures 1 1 6 4 3 0 15
Neuronal Ceroid-Lipofuscinosis, Recessive 0 0 6 1 3 0 9
Neuronal ceroid lipofuscinosis 6; Adult neuronal ceroid lipofuscinosis 0 3 5 0 0 0 8
Adult neuronal ceroid lipofuscinosis 4 0 0 0 1 0 5
Neurodevelopmental disorder 0 2 0 0 0 0 2
none provided 0 0 0 0 2 0 2
Abnormality of brain morphology 0 1 0 0 0 0 1
Agenesis of the corpus callosum with peripheral neuropathy 0 0 0 0 1 0 1
Inborn genetic diseases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 17 8 96 79 14 0 214
GeneDx 7 4 35 40 25 0 111
Illumina Clinical Services Laboratory,Illumina 0 0 62 10 10 0 81
Counsyl 1 15 20 0 0 0 36
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 11 3 5 0 20
Ambry Genetics 1 1 7 4 3 0 16
OMIM 14 0 0 0 0 0 14
Athena Diagnostics Inc 0 0 3 2 4 0 9
SNPedia 0 0 0 0 0 9 9
Genetic Services Laboratory, University of Chicago 1 0 3 4 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 1 1 0 0 8
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 7 0 0 0 1 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 3 1 0 7
Mendelics 4 1 0 0 1 0 6
Broad Institute Rare Disease Group, Broad Institute 1 0 3 0 2 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 0 0 0 5
PreventionGenetics, PreventionGenetics 0 0 0 1 3 0 4
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 0 4
GeneReviews 3 0 0 0 0 0 3
Myriad Women's Health, Inc. 0 3 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 2 0 0 0 0 0 2
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
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 1 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
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 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, Oman 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
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 1

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