Variants studied for Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

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
14	5	16	0	20	54

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
PI4KA	12	5	16	20	52
PAH	2	0	0	0	2

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Genome-Nilou Lab	0	0	0	20	20
OMIM	10	0	0	0	10
Baylor Genetics	1	0	6	0	7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	3	0	4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	0	2	0	2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	2	0	0	2
Undiagnosed Diseases Network, NIH	2	0	0	0	2
Genetics and Molecular Pathology, SA Pathology	0	0	2	0	2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	1	0	2
Centogene AG - the Rare Disease Company	0	0	1	0	1
Mendelics	1	0	0	0	1
Laboratory of Medical Genetics, University of Torino	0	1	0	0	1
3billion	0	0	1	0	1

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