ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.912C>T (p.Asp304=)

gnomAD frequency: 0.00022  dbSNP: rs149769247
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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 RCV000891890 SCV001035733 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884789 SCV004700228 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing AIRE: BP4, BP7
Natera, Inc. RCV000891890 SCV001460113 likely benign Polyglandular autoimmune syndrome, type 1 2020-04-29 no assertion criteria provided clinical testing

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