Variants studied for Familial infantile myasthenia

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	not provided	total
60	57	288	451	44	1	854

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CHAT	59	57	286	451	43	1	850
CHAT, SLC18A3	0	0	2	0	1	0	3
LOC107303340, VHL	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 23

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	50	18	244	450	38	0	800
Baylor Genetics	7	36	10	0	0	0	53
Revvity Omics, Revvity	1	3	45	0	0	0	49
OMIM	11	0	0	0	0	0	11
Genome-Nilou Lab	0	0	0	0	8	0	8
Fulgent Genetics, Fulgent Genetics	0	0	2	1	0	0	3
Genetic Services Laboratory, University of Chicago	0	2	0	0	0	0	2
Mendelics	0	0	0	0	2	0	2
Mayo Clinic Laboratories, Mayo Clinic	0	1	1	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	0	0	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	0	2	0	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	2	0	0	0	2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences	2	0	0	0	0	0	2
3billion	0	0	2	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	0	2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	0	0	1	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	0	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	0	1

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