ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1567-18C>T

gnomAD frequency: 0.00047  dbSNP: rs372108131
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669972 SCV000794775 likely benign Polyglandular autoimmune syndrome, type 1 2017-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669972 SCV002466069 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-18 criteria provided, single submitter clinical testing

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