Variants studied for Myoclonic epilepsy of Lafora 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	total
10	5	10	0	0	25

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
EPM2A, EPM2A-DT, LOC129997381	4	5	5	14
EPM2A	6	0	4	10
NHLRC1	0	0	1	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	7	0	0	7
Department of Pathology and Laboratory Medicine, Sinai Health System	1	0	4	5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	2	1	4
Neuberg Centre For Genomic Medicine, NCGM	0	1	2	3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	1	1	2
New York Genome Center	0	0	2	2
3billion	1	0	0	1
Centre de Recherche et de Formation en Génétique Médicale et en Neurosciences, Université des Sciences, des Techniques et des Technologies de Bamako	0	1	0	1

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