Submissions for variant NM_000383.4(AIRE):c.588C>T (p.Ser196=)

gnomAD frequency: 0.18544  dbSNP: rs878081

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116301	SCV000303918	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000116301	SCV000612311	benign	not specified	2012-07-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001271172	SCV001729974	benign	Polyglandular autoimmune syndrome, type 1	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001271172	SCV001761836	benign	Polyglandular autoimmune syndrome, type 1	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001682802	SCV001902328	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000116301	SCV004102412	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 29% of patients studied by a panel of primary immunodeficiencies. Number of patients: 28. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001682802	SCV005276672	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116301	SCV000150219	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.	RCV001271172	SCV001452109	benign	Polyglandular autoimmune syndrome, type 1	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000116301	SCV001743173	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000116301	SCV001929988	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116301	SCV001958629	benign	not specified		no assertion criteria provided	clinical testing