ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.660C>T (p.Ser220=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003524479 SCV004317914 likely benign Polyglandular autoimmune syndrome, type 1 2023-08-17 criteria provided, single submitter clinical testing

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