ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3067+10C>T

dbSNP: rs1553395203
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686811 SCV000814346 uncertain significance Neuroblastoma, susceptibility to, 3 2018-03-28 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This variant has not been reported in the literature in individuals with ALK-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 18 of the ALK gene. It does not directly change the encoded amino acid sequence of the ALK protein.

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