Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005296799 | SCV005961426 | uncertain significance | not specified | 2025-01-08 | criteria provided, single submitter | clinical testing | The c.1021A>T (p.S341C) alteration is located in exon 8 (coding exon 8) of the AXL gene. This alteration results from a A to T substitution at nucleotide position 1021, causing the serine (S) at amino acid position 341 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |