ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.978G>A (p.Pro326=)

dbSNP: rs972756453
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907294 SCV001051990 likely benign Polyglandular autoimmune syndrome, type 1 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307676 SCV003991087 likely benign Inborn genetic diseases 2023-06-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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