ClinVar Miner

Submissions for variant NC_000021.9:g.(?_44297636)_(44297747_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001031193 SCV001194499 uncertain significance Polyglandular autoimmune syndrome, type 1 2019-12-30 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 14 of the AIRE gene. The 5' boundary is likely confined to intron 13. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with AIRE-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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