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
99 84 300 387 54 12 800

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Neuronal ceroid lipofuscinosis 63 26 229 337 25 0 656
not provided 18 12 88 50 28 9 185
Ceroid lipofuscinosis, neuronal, 6A 25 32 32 0 2 3 78
not specified 0 0 18 38 20 0 67
Inborn genetic diseases 1 1 32 15 4 0 53
Ceroid lipofuscinosis, neuronal, 6A; Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 9 27 10 3 0 0 48
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 11 4 1 1 1 0 18
CLN6-related disorder 1 0 1 8 0 0 10
Neuronal Ceroid-Lipofuscinosis, Recessive 0 0 6 1 3 0 9
Ceroid lipofuscinosis, neuronal, 6A; Adult neuronal ceroid lipofuscinosis 0 3 4 0 0 0 7
Abnormality of the nervous system 1 2 0 0 0 0 3
See cases 1 1 1 0 0 0 3
Neurodevelopmental disorder 0 2 0 0 0 0 2
Abnormal brain morphology 0 1 0 0 0 0 1
Agenesis of the corpus callosum with peripheral neuropathy 0 0 0 0 1 0 1
Cystic fibrosis 1 0 0 0 0 0 1
Spastic ataxia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 60 18 180 329 20 0 607
GeneDx 10 7 59 58 40 0 174
Illumina Laboratory Services, Illumina 0 0 63 10 10 0 82
Ambry Genetics 1 1 32 15 4 0 53
Fulgent Genetics, Fulgent Genetics 8 23 10 2 0 0 43
Counsyl 1 14 20 0 0 0 35
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 7 13 5 1 0 35
CeGaT Center for Human Genetics Tuebingen 6 2 3 10 2 0 23
Eurofins Ntd Llc (ga) 1 0 11 3 5 0 20
Breakthrough Genomics, Breakthrough Genomics 0 0 5 7 7 0 19
OMIM 18 0 0 0 0 0 18
PreventionGenetics, part of Exact Sciences 1 0 1 9 3 0 14
Revvity Omics, Revvity 2 2 8 0 0 0 12
Mendelics 8 3 0 0 1 0 12
Athena Diagnostics 0 0 3 2 6 0 11
Mayo Clinic Laboratories, Mayo Clinic 0 1 6 3 1 0 11
SNPedia 0 0 0 0 0 9 9
3billion 3 4 2 0 0 0 9
Genetic Services Laboratory, University of Chicago 1 0 3 4 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 3 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 3 0 2 0 7
Myriad Genetics, Inc. 1 6 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 4 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 1 0 4
Baylor Genetics 1 0 2 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 2 0 0 0 0 3
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 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
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 1 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 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
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
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
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 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
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 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
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 1 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
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1

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