ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1053G>A (p.Arg351=)

gnomAD frequency: 0.00001  dbSNP: rs760115494
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616615 SCV000719898 likely benign not specified 2017-05-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001496302 SCV001700999 likely benign Polyglandular autoimmune syndrome, type 1 2023-12-22 criteria provided, single submitter clinical testing

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