Variants studied for hyperphosphatasia with intellectual disability syndrome 3

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
9	6	8	0	0	23

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
PGAP2	9	6	8	23

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	5	0	0	5
Mendelics	0	1	3	4
Institute of Experimental Medicine, Department of Genetics, Istanbul University	3	0	0	3
Institute of Human Genetics, University of Leipzig Medical Center	1	2	0	3
Institute of Human Genetics, Cologne University	0	2	0	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	1	0	2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	2	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	2
Baylor Genetics	0	0	1	1
Revvity Omics, Revvity	0	1	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	1

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