Variants in gene combination CHAT, SLC18A3

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
2	4	125	100	14	240

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	0	3	109	98	13	223
Inborn genetic diseases	0	0	22	0	0	22
Congenital myasthenic syndrome 21	2	1	6	0	1	8
SLC18A3-related condition	0	0	0	4	1	5
Familial infantile myasthenia	0	0	2	0	1	3
CHAT-related condition	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	0	0	108	97	12	217
Ambry Genetics	0	0	22	0	0	22
GeneDx	0	3	4	0	3	10
PreventionGenetics, part of Exact Sciences	0	0	0	4	2	6
Baylor Genetics	0	0	4	0	0	4
OMIM	2	0	0	0	0	2
CeGaT Center for Human Genetics Tuebingen	0	0	0	2	0	2
Revvity Omics, Revvity	0	0	1	0	0	1
Mendelics	0	0	0	0	1	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
3billion	0	1	0	0	0	1

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