ClinVar Miner

Submissions for variant NC_000005.9:g.(?_1293418)_(1295161_?)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 RCV000809984 SCV000950170 uncertain significance Interstitial lung disease 2; Dyskeratosis congenita, autosomal dominant 2 2018-09-20 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 1-2 of the TERT gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the TERT gene. 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 TERT-related disease. 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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