ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1299T>G (p.Arg433=)

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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 RCV003830215 SCV004633149 likely benign Polyglandular autoimmune syndrome, type 1 2023-12-16 criteria provided, single submitter clinical testing

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