ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1437G>A (p.Val479=)

gnomAD frequency: 0.00041  dbSNP: rs181029582
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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 RCV000970747 SCV001118343 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420925 SCV001623379 likely benign not specified 2021-04-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000970747 SCV001464231 likely benign Polyglandular autoimmune syndrome, type 1 2020-04-29 no assertion criteria provided clinical testing

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