ClinVar Miner

Variants studied for Neuronal ceroid lipofuscinosis 2

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
42 73 177 15 26 27 315

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TPP1 42 73 177 15 26 27 315

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 17 2 122 5 15 0 161
Illumina Laboratory Services, Illumina 4 0 49 8 9 0 70
Counsyl 4 36 11 2 0 0 53
UniProtKB/Swiss-Prot 0 0 0 0 0 22 22
Myriad Genetics, Inc. 3 15 0 0 0 0 18
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 8 1 0 0 0 13
OMIM 10 0 0 0 0 0 10
Genome-Nilou Lab 0 1 2 1 6 0 10
Baylor Genetics 7 0 2 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 2 2 3 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 1 0 0 2 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 4
Mendelics 3 0 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 0 1 0 3
New York Genome Center 1 0 2 0 0 0 3
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 3 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 1 0 2
GeneReviews 1 0 0 0 0 1 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Blueprint Genetics 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Human Genetics Research Lab, Central University of Jammu 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
3billion, Medical Genetics 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 1 1

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