ClinVar Miner

Variants studied for neuronal ceroid lipofuscinosis 3

Included ClinVar conditions (2):
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
45 122 105 17 6 1 260

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CLN3 45 121 105 17 6 1 259
TPP1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 10 2 63 8 2 0 85
Baylor Genetics 21 44 4 0 0 0 69
Illumina Laboratory Services, Illumina 0 0 50 3 4 0 57
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 54 0 0 0 0 54
Counsyl 5 29 4 2 0 0 40
Fulgent Genetics, Fulgent Genetics 1 0 7 2 0 0 10
Myriad Genetics, Inc. 0 7 3 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
Natera, Inc. 0 0 2 1 1 0 4
3billion 2 0 1 1 0 0 4
Revvity Omics, Revvity 3 0 0 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 3
Mendelics 2 0 0 0 0 0 2
GeneReviews 1 0 0 0 0 1 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 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 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Human Genetics Department, Tarbiat Modares University 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
DBGen Ocular Genomics 0 0 1 0 0 0 1

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