Submissions for variant NM_000383.4(AIRE):c.1578T>C (p.Asp526=)

gnomAD frequency: 0.49415  dbSNP: rs1133779

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116300	SCV000303917	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000116300	SCV000612309	benign	not specified	2017-07-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001273734	SCV001720464	benign	Polyglandular autoimmune syndrome, type 1	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001273734	SCV001761844	benign	Polyglandular autoimmune syndrome, type 1	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001636656	SCV001851349	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000116300	SCV004101995	benign	not specified	2023-11-12	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 63% of patients studied by a panel of primary immunodeficiencies. Number of patients: 60. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001636656	SCV005278265	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116300	SCV000150218	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.	RCV001273734	SCV001457194	benign	Polyglandular autoimmune syndrome, type 1	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000116300	SCV001744696	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000116300	SCV001926459	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116300	SCV001951675	benign	not specified		no assertion criteria provided	clinical testing