ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.297C>T (p.Ser99=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003440604 SCV004153789 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing AIRE: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003778422 SCV004634016 likely benign Polyglandular autoimmune syndrome, type 1 2023-05-15 criteria provided, single submitter clinical testing

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