ClinVar Miner

Submissions for variant NC_000003.11:g.(?_12627160)_(12627318_?)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 RCV000655016 SCV000776936 uncertain significance RASopathy 2022-05-26 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 14 of the RAF1 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RAF1 cause disease. This variant has not been reported in the literature in individuals affected with RAF1-related conditions. 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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