Variants studied for Developmental delay and seizures with or without movement abnormalities

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	1	11	0	1	18

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
DHDDS	6	1	11	1	18

Submitter and significance breakdown #

Total submitters: 21

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
3billion	3	0	3	0	6
Baylor Genetics	2	0	1	0	3
Institute of Human Genetics, University of Leipzig Medical Center	2	0	1	0	3
OMIM	2	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	2	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	0	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	2
New York Genome Center	0	0	2	0	2
Institute of Human Genetics, University of Goettingen	0	0	1	0	1
Institute of Human Genetics, Cologne University	0	1	0	0	1
Mendelics	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	1
Illumina Laboratory Services, Illumina	1	0	0	0	1
Fundacion Publica Galega de Medicina Xenomica, Servicio Galego de Saude	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	1	0	0	0	1
Laboratory of Medical Genetics, University of Torino	1	0	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	0	1	0	1
Genome-Nilou Lab	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town	0	1	0	0	1
Institute of Immunology and Genetics Kaiserslautern	0	0	1	0	1

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