Variants studied for Neurodevelopmental disorder with central hypotonia and dysmorphic facies

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	0	25	0	0	29

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	uncertain significance	total
HDAC4	4	25	29

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	uncertain significance	total
Revvity Omics, Revvity	0	5	5
OMIM	4	0	4
Neuberg Centre For Genomic Medicine, NCGM	0	4	4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	3	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	2
Fulgent Genetics, Fulgent Genetics	0	2	2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	2	2
3billion	1	1	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	2	2
MVZ Medizinische Genetik Mainz	0	2	2
Clinical Genomics Laboratory, Washington University in St. Louis	0	1	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	1	1

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