Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005290910 | SCV005961373 | uncertain significance | not specified | 2025-01-15 | criteria provided, single submitter | clinical testing | The c.2257G>A (p.V753M) alteration is located in exon 19 (coding exon 19) of the AXL gene. This alteration results from a G to A substitution at nucleotide position 2257, causing the valine (V) at amino acid position 753 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |