Variants studied for Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function

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
34	15	218	283	45	1	595

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
STAT3	34	15	202	261	42	1	554
LOC130060888, STAT3	0	0	10	18	3	0	31
LOC130060889, STAT3	0	0	5	4	0	0	9
CAVIN1, STAT3, STAT5A, STAT5B	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 2

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	34	15	218	283	45	0	595
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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