Variants studied for leukoencephalopathy, progressive, with ovarian failure

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	8	5	3	9	35

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
AARS2	8	6	5	3	9	31
AARS2, POLR1C	2	2	0	0	0	4

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	0	0	0	0	9	9
Institute of Human Genetics, University of Leipzig Medical Center	4	1	0	0	0	5
OMIM	4	0	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	0	0	3	0	3
Baylor Genetics	0	0	2	0	0	2
MGZ Medical Genetics Center	0	1	1	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	1	0	0	2
Juno Genomics, Hangzhou Juno Genomics, Inc	1	1	0	0	0	2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	2	0	0	0	2
Neurology Laboratory, National Cheng Kung University Hospital	0	2	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	2
Centogene AG - the Rare Disease Company	1	0	0	0	0	1

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