Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005380078 | SCV006025874 | uncertain significance | not specified | 2025-01-28 | criteria provided, single submitter | clinical testing | The c.202G>C (p.A68P) alteration is located in exon 4 (coding exon 2) of the LRTM2 gene. This alteration results from a G to C substitution at nucleotide position 202, causing the alanine (A) at amino acid position 68 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |