Submissions for variant NM_000383.4(AIRE):c.99T>C (p.Ala33=)

gnomAD frequency: 0.18036  dbSNP: rs3746964

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116304	SCV000303921	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710499	SCV000840735	benign	not provided	2017-10-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000029317	SCV001720460	benign	Polyglandular autoimmune syndrome, type 1	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000710499	SCV001905005	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710499	SCV005276617	benign	not provided		criteria provided, single submitter	not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029317	SCV000051963	benign	Polyglandular autoimmune syndrome, type 1	2010-11-20	no assertion criteria provided	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116304	SCV000150222	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc.	RCV000029317	SCV001452104	benign	Polyglandular autoimmune syndrome, type 1	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000116304	SCV001743244	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000116304	SCV001926954	benign	not specified		no assertion criteria provided	clinical testing