Submissions for variant NM_000383.4(AIRE):c.1095+6G>A

gnomAD frequency: 0.10544  dbSNP: rs1800525

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116292	SCV000303912	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000116292	SCV000335630	benign	not specified	2015-09-21	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710491	SCV000840725	benign	not provided	2017-10-11	criteria provided, single submitter	clinical testing
Invitae	RCV001273731	SCV001720462	benign	Polyglandular autoimmune syndrome, type 1	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001273731	SCV001761840	benign	Polyglandular autoimmune syndrome, type 1	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000710491	SCV001884122	benign	not provided	2018-12-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19863576, 25402387, 23262341)
Genetic Services Laboratory, University of Chicago	RCV000116292	SCV000150210	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.	RCV001273731	SCV001457183	benign	Polyglandular autoimmune syndrome, type 1	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000116292	SCV001926906	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116292	SCV001953763	benign	not specified		no assertion criteria provided	clinical testing