Submissions for variant NM_000383.4(AIRE):c.1476C>T (p.Pro492=)

gnomAD frequency: 0.00054  dbSNP: rs72650679

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250013	SCV000303915	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001085680	SCV000629950	benign	Polyglandular autoimmune syndrome, type 1	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000827073	SCV000968686	likely benign	not provided	2019-06-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18200029)
CeGaT Center for Human Genetics Tuebingen	RCV000827073	SCV004153803	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	AIRE: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000827073	SCV001926391	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000827073	SCV001952390	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000827073	SCV001972953	likely benign	not provided		no assertion criteria provided	clinical testing