Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004880065 | SCV005535965 | uncertain significance | not specified | 2024-06-26 | criteria provided, single submitter | clinical testing | The c.656C>G (p.A219G) alteration is located in exon 5 (coding exon 5) of the AXL gene. This alteration results from a C to G substitution at nucleotide position 656, causing the alanine (A) at amino acid position 219 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |