ClinVar Miner

Variants studied for Ceroid lipofuscinosis, neuronal, 6A

Coded as:
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
26 32 32 0 2 3 79

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
CLN6 25 32 32 2 3 78
SMPD1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Counsyl 1 14 20 0 0 35
OMIM 13 0 0 0 0 13
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism 7 0 0 1 0 8
3billion 1 4 1 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 4 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 3 0 0 4
Baylor Genetics 1 0 2 0 0 3
GeneReviews 0 0 0 0 3 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 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 2
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Neurogenetics, Cyprus Institute of Neurology and Genetics 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Child Neurology Division, Pediatrics Department, KAHER's Jawaharlal Nehru Medical College, Belagavi 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 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 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 1

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