ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.798C>G (p.Pro266=)

dbSNP: rs41277550
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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 RCV000972980 SCV001120713 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704386 SCV005207502 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000972980 SCV002083875 benign Polyglandular autoimmune syndrome, type 1 2019-10-21 no assertion criteria provided clinical testing

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