ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.652+15G>A

gnomAD frequency: 0.00007  dbSNP: rs760027964
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334408 SCV001527252 uncertain significance Polyglandular autoimmune syndrome, type 1 2018-02-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001334408 SCV002416980 benign Polyglandular autoimmune syndrome, type 1 2024-01-29 criteria provided, single submitter clinical testing

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