ClinVar Miner

Submissions for variant NC_000022.10:g.(?_18900668)_(19770565_?)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 RCV001032842 SCV001196149 uncertain significance DiGeorge syndrome 2019-12-15 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the TBX1 gene. The boundaries of this event are unknown as they extend 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. Isolated whole-gene copy number gains of TBX1 have not been reported in the literature. However, larger copy number events that include this gene, also known as 22q11.2 duplications, have been reported in individuals affected with congenital heart defects (PMID: 25516202, 21921585). 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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