Variants studied for Fetal akinesia deformation sequence 1; 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
42	17	227	330	40	3	654

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	41	16	226	330	40	3	651
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: 3

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	42	17	226	329	40	0	654
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	3	3
Fulgent Genetics, Fulgent Genetics	0	0	1	1	0	0	2

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