Variants studied for congenital myasthenic syndrome 9

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
46	22	260	340	43	3	674

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
MUSK	45	21	259	340	43	3	671
LOC124310625, LOC126860730, MUSK	1	0	0	0	0	0	1
LOC124310625, MUSK	0	1	0	0	0	0	1
MUSK, SVEP1, TXN, TXNDC8	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	42	17	226	329	40	0	654
Illumina Laboratory Services, Illumina	0	0	51	10	10	0	71
OMIM	5	0	0	0	0	0	5
Baylor Genetics	2	0	3	0	0	0	5
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	2	2	0	0	0	4
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	3	3
Fulgent Genetics, Fulgent Genetics	0	0	1	1	0	0	2
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute	0	2	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	0	1

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