Variants studied for Polyglandular autoimmune syndrome, type 1

Minimum submission review status:		Collection method:
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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
26	47	73	11	22	169

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
AIRE	26	47	72	11	22	168
AIRE, CFAP410, DNMT3L, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LRRC3, PFKL, PTTG1IP, SUMO3, TRPM2, TSPEAR, UBE2G2	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	11	6	53	6	21	97
Counsyl	10	38	17	3	0	68
Integrated Genetics/Laboratory Corporation of America	4	4	3	3	2	16
OMIM	9	0	0	0	0	9
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	4	0	0	0	4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	1	0	0	0	2
Fulgent Genetics,Fulgent Genetics	0	1	0	0	0	1
Department of Genetics,Sultan Qaboos University Hospital, Oman	0	0	1	0	0	1

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