Variants studied for Freeman-Sheldon syndrome

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
5	5	54	18	111	188

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
MYH3	5	5	54	18	111	188

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	48	17	96	160
Genome-Nilou Lab	0	0	0	0	22	22
OMIM	4	0	0	0	0	4
Mendelics	0	0	0	1	3	4
Baylor Genetics	1	0	1	0	0	2
SIB Swiss Institute of Bioinformatics	2	0	0	0	0	2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	1	1	0	0	2
Genetic Services Laboratory, University of Chicago	0	1	0	0	0	1
Institute of Human Genetics, Cologne University	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	0	1	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	0	0	0	0	1
New York Genome Center	0	0	1	0	0	1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	0	1	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	0	1	0	0	0	1

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