Variants studied for Polyglandular autoimmune syndrome, type 1

Minimum submission review status:		Collection method:
Minimum conflict level:
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
37	51	116	64	31	1	287

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	not provided	total
AIRE	37	51	115	64	31	1	286
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	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	24	11	97	60	29	0	221
Counsyl	8	38	17	3	0	0	66
Integrated Genetics/Laboratory Corporation of America	7	4	3	2	2	0	18
OMIM	9	0	0	0	0	0	9
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	4	0	0	0	0	4
Mendelics	1	0	1	0	1	0	3
Myriad Women's Health, Inc.	3	0	0	0	0	0	3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	2	0	0	0	0	0	2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	1	0	0	0	0	2
Fulgent Genetics,Fulgent Genetics	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Department of Genetics,Sultan Qaboos University Hospital, Oman	0	0	1	0	0	0	1
LACE Laboratorios	0	1	0	0	0	0	1

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