ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1248C>G (p.Pro416=)

gnomAD frequency: 0.00001  dbSNP: rs74162064
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 RCV001481014 SCV001685348 likely benign Polyglandular autoimmune syndrome, type 1 2021-02-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001481014 SCV002076117 likely benign Polyglandular autoimmune syndrome, type 1 2021-02-23 no assertion criteria provided clinical testing

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