ClinVar Miner

Submissions for variant NM_002880.4(RAF1):c.1537-32_1537-8dup

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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 RCV002575912 SCV002931639 uncertain significance RASopathy 2024-07-22 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the RAF1 gene. It does not directly change the encoded amino acid sequence of the RAF1 protein. This variant is present in population databases (rs754692271, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RAF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1896668). 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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