Variants studied for Progressive myoclonic epilepsy type 8

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
3	1	131	145	9	287

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	total
CERS1, GDF1	3	1	130	145	9	286
ARMC6, BORCS8, CERS1, COMP, COPE, DDX49, GDF1, HOMER3, MEF2B, NR2C2AP, RFXANK, SLC25A42, SUGP2, TMEM161A, UPF1	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	0	130	144	9	283
Mendelics	0	1	1	1	0	3
OMIM	2	0	0	0	0	2
Baylor Genetics	0	0	1	0	0	1
Revvity Omics, Revvity	0	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1

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