Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005364038 | SCV006020574 | uncertain significance | not specified | 2025-02-13 | criteria provided, single submitter | clinical testing | The c.1375C>T (p.L459F) alteration is located in exon 8 (coding exon 8) of the LILRB3 gene. This alteration results from a C to T substitution at nucleotide position 1375, causing the leucine (L) at amino acid position 459 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |