Variants studied for Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

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
24	16	180	241	27	2	486

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
STAT1	23	16	179	241	27	2	484
ANKAR, ASNSD1, C2orf88, COL3A1, COL5A2, GLS, HIBCH, INPP1, MFSD6, MSTN, NAB1, NEMP2, ORMDL1, OSGEPL1, PMS1, SLC40A1, STAT1, STAT4, WDR75	0	0	1	0	0	0	1
STAT1, STAT4	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	23	16	179	240	27	0	485
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	1	0	1	1	0	0	3
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	0	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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