Variants studied for congenital myasthenic syndrome 16

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
16	6	280	69	47	3	413

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
GH-LCR, SCN4A	11	4	179	40	35	2	267
SCN4A	5	2	100	29	12	1	145
RANBP2	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	8	2	140	63	1	0	214
Illumina Laboratory Services, Illumina	0	0	145	11	43	0	199
Athena Diagnostics Inc	0	0	0	0	14	0	14
Baylor Genetics	3	0	3	0	0	0	6
OMIM	4	0	0	0	0	0	4
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	3	3
MGZ Medical Genetics Center	0	1	1	0	0	0	2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	2	0	0	0	0	0	2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research	0	2	0	0	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	2	0	0	0	2
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	0	1
3billion	0	0	1	0	0	0	1

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