Submissions for variant NM_000383.4(AIRE):c.834C>G (p.Ser278Arg)

dbSNP: rs1800520

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000116303	SCV000232056	benign	not specified	2014-10-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116303	SCV000303920	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710497	SCV000840732	benign	not provided	2017-10-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001271173	SCV001720461	benign	Polyglandular autoimmune syndrome, type 1	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001271173	SCV001761838	benign	Polyglandular autoimmune syndrome, type 1	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000710497	SCV001944343	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21505073, 19322061, 25525159, 12542742)
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000116303	SCV004102516	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 23% of patients studied by a panel of primary immunodeficiencies. Number of patients: 22. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000710497	SCV005276728	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116303	SCV000150221	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.	RCV001271173	SCV001452115	benign	Polyglandular autoimmune syndrome, type 1	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710497	SCV001927244	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116303	SCV001952048	benign	not specified		no assertion criteria provided	clinical testing