Variants studied for Neonatal pseudo-hydrocephalic progeroid syndrome

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
22	26	2	0	0	33

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
POLR3A	19	22	2	29
LOC126860970, POLR3A	2	3	0	3
LOC126860971, POLR3A	1	1	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital	0	15	0	15
OMIM	14	0	0	14
University of Washington Center for Mendelian Genomics, University of Washington	0	10	0	10
Cole/Wambach Lab, Washington University in St. Louis	9	1	0	10
Baylor Genetics	3	0	0	3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	2	1	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	2	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	1	0	2
DASA	0	2	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	1
DESAM Institute, Near East University	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	1

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