Variants studied for Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism 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
13	6	16	1	2	38

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PHF21A	13	6	16	1	2	38

Submitter and significance breakdown #

Total submitters: 21

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
New York Genome Center	0	0	5	0	0	5
OMIM	4	0	0	0	0	4
Revvity Omics, Revvity	0	0	4	0	0	4
3billion	2	1	0	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	0	0	0	2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	2	0	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	1	1	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	1	0	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	1	0	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	0	1	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	1	0	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	1	0	0	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	1	0	0	0	1
Provincial Medical Genetics Program of British Columbia, University of British Columbia	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1

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