ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1404G>A (p.Thr468=)

dbSNP: rs7281600
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029309 SCV000051955 likely benign Polyglandular autoimmune syndrome, type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000029309 SCV000629947 benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818183 SCV002067890 likely benign not specified 2020-08-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430641 SCV004153802 benign not provided 2022-07-01 criteria provided, single submitter clinical testing AIRE: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003430641 SCV005207504 likely benign not provided criteria provided, single submitter not provided

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