ClinVar Miner

Submissions for variant NC_000001.10:g.(?_161326461)_(161332229_?)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 RCV000542153 SCV000641423 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2018-01-19 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 5-6 of the SDHC gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. A duplication of exons 5-6 has not been reported in the literature in individuals with SDHC-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated exons is currently unknown. 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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