Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004938161 | SCV005610452 | uncertain significance | not specified | 2024-10-04 | criteria provided, single submitter | clinical testing | The c.1387A>G (p.S463G) alteration is located in exon 2 (coding exon 2) of the LRIF1 gene. This alteration results from a A to G substitution at nucleotide position 1387, causing the serine (S) at amino acid position 463 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |