Submissions for variant NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)

gnomAD frequency: 0.01042  dbSNP: rs34397615

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029316	SCV000051962	likely benign	Polyglandular autoimmune syndrome, type 1	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Likely benign.
Counsyl	RCV000029316	SCV000220138	likely benign	Polyglandular autoimmune syndrome, type 1	2014-03-03	criteria provided, single submitter	literature only
Labcorp Genetics (formerly Invitae), Labcorp	RCV000029316	SCV000629958	benign	Polyglandular autoimmune syndrome, type 1	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818184	SCV002067888	benign	not specified	2021-04-02	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000029316	SCV002801166	likely benign	Polyglandular autoimmune syndrome, type 1	2022-04-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV004546415	SCV005041625	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	AIRE: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV004546415	SCV005207500	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000029316	SCV001460107	benign	Polyglandular autoimmune syndrome, type 1	2020-06-17	no assertion criteria provided	clinical testing