ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.538+7G>A

gnomAD frequency: 0.00019  dbSNP: rs575144370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000930453 SCV001076106 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000930453 SCV001460105 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-04-20 no assertion criteria provided clinical testing

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