ClinVar Miner

Submissions for variant NC_000017.10:g.(?_17116959)_(17140502_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792143 SCV000931421 uncertain significance Birt-Hogg-Dube syndrome 2018-11-30 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the FLCN 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 copy number variant has not been reported in the literature in individuals with FLCN-related disease. Experimental studies are not available for this duplciation, and the functional significance of an extra copy of the FLCN gene 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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