ClinVar Miner

Submissions for variant NC_000004.11:g.(?_55124926)_(55161449_?)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 RCV000811358 SCV000951619 uncertain significance Gastrointestinal stromal tumor 2018-10-15 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the PDGFRA gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication 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 a PDGFRA-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated gene copies is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on PDGFRA protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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