ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.936C>T (p.Asp312=)

gnomAD frequency: 0.00015  dbSNP: rs147889221
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088163 SCV001063928 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000918612 SCV001142978 likely benign not provided 2019-08-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001088163 SCV001464217 likely benign Polyglandular autoimmune syndrome, type 1 2020-04-29 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003970465 SCV004785739 likely benign AIRE-related disorder 2023-05-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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