Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004676488 | SCV005167255 | uncertain significance | not specified | 2024-04-09 | criteria provided, single submitter | clinical testing | The c.436T>G (p.C146G) alteration is located in exon 3 (coding exon 3) of the SLAMF8 gene. This alteration results from a T to G substitution at nucleotide position 436, causing the cysteine (C) at amino acid position 146 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |