ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1327G>A (p.Val443Met)

gnomAD frequency: 0.00003  dbSNP: rs557522986
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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 RCV000695018 SCV000823492 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000695018 SCV001457188 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-09-16 no assertion criteria provided clinical testing

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