Variants studied for Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language

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
7	12	6	0	0	24

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
RNU4-2, SIRT4	6	12	6	23
RNU4-1, RNU4-2, SIRT4	1	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
Institute for Human Genetics, University Hospital Essen	6	12	4	22
Undiagnosed Diseases Network, NIH	4	0	0	4
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital	0	0	2	2
OMIM	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	1
Clinical Genetics Laboratory, Skane University Hospital Lund	1	0	0	1

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