ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2456_2470dup (p.Gly823_Ala824insGlyGlyGlyGlyGly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120315 SCV003799252 uncertain significance Neuroblastoma, susceptibility to, 3 2022-07-08 criteria provided, single submitter clinical testing The ALK c.2456_2470dup, p.Gly819_Gly823dup variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant is a duplication of 5 residues, leaving the rest of the protein in-frame. Due to limited information, the clinical significance of this variant is uncertain at this time.

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