ClinVar Miner

Submissions for variant NC_000017.10:g.(?_17135108)_(17136215_?)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 RCV000803918 SCV000943806 uncertain significance Birt-Hogg-Dube syndrome 2023-03-07 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with FLCN-related conditions. This variant occurs in a non-coding region of the FLCN gene. It does not change the encoded amino acid sequence of the FLCN protein.

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