ClinVar Miner

Submissions for variant NM_002880.3(RAF1):c.-26-?_1370+?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 RCV000240126 SCV000299108 uncertain significance RASopathy 2016-01-01 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 2 (the first coding exon) and exon 12 of the RAF1 gene. This duplication extends beyond the edge of the assayed region, and the 5' boundary of this event is not known. Furthermore, the exact position of the duplicated exons cannot be determined from this data, and may or may not be in tandem. This gross duplication is not present in population databases and it has not been reported in the literature in patients with a RAF1-related disease. In summary, this is a novel duplication involving the first coding exon of the RAF1. However the genomic location and orientation of the duplicated sequence is unknown. For these reasons, this change has been classified as a Variant of Uncertain Significance

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