ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.615C>T (p.Ala205=)

gnomAD frequency: 0.00009  dbSNP: rs143784684
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912444 SCV001057552 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432903 SCV004153796 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing AIRE: BP4, BP7
Natera, Inc. RCV000912444 SCV002083865 likely benign Polyglandular autoimmune syndrome, type 1 2021-02-25 no assertion criteria provided clinical testing

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