Submissions for variant NM_000383.4(AIRE):c.63C>T (p.Ala21=)

gnomAD frequency: 0.00176  dbSNP: rs371796437

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588517	SCV000696655	likely benign	not provided	2016-03-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079773	SCV000754677	benign	Polyglandular autoimmune syndrome, type 1	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821712	SCV002067886	likely benign	not specified	2018-09-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000588517	SCV002821092	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	AIRE: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000588517	SCV005207496	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000588517	SCV001932277	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000588517	SCV001967139	likely benign	not provided		no assertion criteria provided	clinical testing