Variants studied for Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature

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
9	9	10	0	4	30

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
PUS7	9	9	10	4	30

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	7	0	0	0	7
Genome-Nilou Lab	0	0	0	4	4
Baylor Genetics	1	0	2	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	2	0	3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	1	1	0	0	2
Undiagnosed Diseases Network, NIH	0	0	2	0	2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	0	2	0	2
Genomic Medicine Lab, University of California San Francisco	0	2	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	2	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	1
Lifecell International Pvt. Ltd	0	1	0	0	1
3billion	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	1	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	1

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