Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
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. |