Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001404109 | SCV001605999 | likely benign | Neuroblastoma, susceptibility to, 3 | 2022-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004950029 | SCV005593976 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-12-09 | criteria provided, single submitter | clinical testing | The c.3186G>A variant (also known as p.K1062K), located in coding exon 20 of the ALK gene, results from a G to A substitution at nucleotide position 3186. This nucleotide substitution does not change the lysine at codon 1062. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. Based on the available evidence, the clinical significance of this variant remains unclear. |