Variants studied for myoclonic epilepsy, juvenile, susceptibility to, 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	risk factor	total
1	0	188	87	29	3	301

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	risk factor	total
EFHC1	1	188	87	29	3	301

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	uncertain significance	likely benign	benign	risk factor	total
Labcorp Genetics (formerly Invitae), Labcorp	0	181	85	29	0	295
Fulgent Genetics, Fulgent Genetics	0	6	2	0	0	8
OMIM	0	3	0	0	3	6
New York Genome Center	0	2	0	0	0	2
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	1
MGZ Medical Genetics Center	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	0	0	0	1

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