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
66	63	288	478	44	1	893

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	65	63	286	478	43	1	889
CHAT, SLC18A3	0	0	2	0	1	0	3
LOC107303340, VHL	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 24

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	56	18	246	477	38	0	835
Baylor Genetics	7	36	10	0	0	0	53
Revvity Omics, Revvity	1	3	45	0	0	0	49
Fulgent Genetics, Fulgent Genetics	2	10	2	1	0	0	15
OMIM	11	0	0	0	0	0	11
Genome-Nilou Lab	0	0	0	0	8	0	8
Neuberg Centre For Genomic Medicine, NCGM	0	0	3	0	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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	1	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, Medical Genetics	2	0	0	0	0	0	2
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	1	0	0	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	0	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	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
Department of Human Genetics, Hannover Medical School	0	0	1	0	0	0	1

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