Variants studied for Congenital myasthenic syndrome 4A

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
155	104	260	613	35	1135

Gene and significance breakdown #

Total genes and gene combinations: 9

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
C17orf107, CHRNE	87	68	136	376	14	662
CHRNE	40	23	73	146	16	289
CHRNE, LOC130060041	14	6	29	43	3	94
CHRNE, LOC130060040	11	6	20	48	2	84
C17orf107, CHRNE, MINK1	1	1	0	0	0	2
C17orf107, CAMTA2, CHRNE, ENO3, GP1BA, INCA1, KIF1C, PFN1, RNF167, SLC25A11, SPAG7	0	0	1	0	0	1
C17orf107, CHRNE, GP1BA, LOC125177409, LOC130060040, LOC130060041, LOC130060042, LOC130060043, LOC130060044, LOC130060045, LOC130060046, LOC130060047, LOC130060048, LOC130060049, LOC130060050, LOC130060051, PFN1, RNF167, SLC25A11	0	0	1	0	0	1
C17orf107, CHRNE, GP1BA, PFN1, RNF167, SLC25A11	1	0	0	0	0	1
CHRNE, LOC130060040, LOC130060041	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	139	42	255	613	31	1080
Baylor Genetics	49	70	3	0	0	122
Genome-Nilou Lab	0	0	0	0	8	8
OMIM	5	0	0	0	0	5
MGZ Medical Genetics Center	0	1	1	0	0	2
Mendelics	2	0	0	0	0	2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	1	0	1	0	0	2
3billion	1	0	1	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	1	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	0	1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	1
Lifecell International Pvt. Ltd	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	1

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