ClinVar Miner

Submissions for variant NC_000007.13:g.(?_140434377)_(140534692_?)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 RCV000556434 SCV000659017 uncertain significance RASopathy 2017-06-30 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 3-18 of the BRAF gene. The 5' boundary is likely confined to intron 2. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The exact location of this variant in the genome is unknown. This variant has not been reported in the literature in individuals with a BRAF-related disease. In summary, this variant has uncertain impact on BRAF function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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