ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3445_3450+13dup

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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 RCV003068863 SCV003456312 uncertain significance Neuroblastoma, susceptibility to, 3 2023-09-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ALK-related conditions. This sequence change falls in intron 21 of the ALK gene. It does not directly change the encoded amino acid sequence of the ALK protein. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 2148598). 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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