Variants studied for Glycosylphosphatidylinositol biosynthesis defect 16

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
4	4	10	0	2	17

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
C1orf105, PIGC	4	4	10	2	17

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Baylor Genetics	0	0	4	0	4
OMIM	3	0	0	0	3
SIB Swiss Institute of Bioinformatics	0	3	0	0	3
Revvity Omics, Revvity	0	0	2	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	2
Genome-Nilou Lab	0	0	0	2	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	1	0	0	1
Laboratory of Medical Genetics, University of Torino	1	0	0	0	1
New York Genome Center	0	1	0	0	1
DASA	1	0	0	0	1

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