ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1311C>A (p.Cys437Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV003326723 SCV003927961 likely pathogenic Polyglandular autoimmune syndrome, type 1 2023-04-01 no assertion criteria provided clinical testing

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