ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1215G>A (p.Pro405=)

gnomAD frequency: 0.00078  dbSNP: rs72650676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533899 SCV000629944 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001675915 SCV001892137 likely benign not provided 2021-02-02 criteria provided, single submitter clinical testing

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