Variants studied for Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures

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
6	4	9	0	0	18

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
AGO1	5	4	9	17
AGO1, LOC129930123	1	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	6	0	0	6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	2
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	1	2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	1	2
Revvity Omics, Revvity	0	0	1	1
Institute of Human Genetics, Cologne University	0	0	1	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	1
University of Washington Department of Laboratory Medicine, University of Washington	0	0	1	1
New York Genome Center	0	0	1	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	1
Institute of Immunology and Genetics Kaiserslautern	0	1	0	1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg	0	0	1	1
MVZ Medizinische Genetik Mainz	0	0	1	1

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