ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.717C>T (p.Ser239=)

gnomAD frequency: 0.00110  dbSNP: rs149130190
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633453 SCV000754680 benign Polyglandular autoimmune syndrome, type 1 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432662 SCV004153798 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing AIRE: BP4, BP7

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