ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1504-818G>A

dbSNP: rs181779633
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001291832 SCV001480458 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-06-05 criteria provided, single submitter clinical testing The c.1504-818G>A intronic variant identified in the AIRE gene not been reported in available literature. This variant has 0.0064% frequency (2heterozygous) in gnomAD database indicating this is a rare allele and in silico tools predict conflicting evidence of pathogenicity. Based on the available evidence, the c.1504-818G>A variant in the AIRE gene is classified as a variant of uncertain significance.
Undiagnosed Diseases Network, NIH RCV001291832 SCV004812047 uncertain significance Polyglandular autoimmune syndrome, type 1 2023-09-21 no assertion criteria provided clinical testing

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