Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004192460 | SCV003686523 | uncertain significance | not specified | 2021-06-22 | criteria provided, single submitter | clinical testing | The c.32T>G (p.V11G) alteration is located in exon 2 (coding exon 1) of the RPS5 gene. This alteration results from a T to G substitution at nucleotide position 32, causing the valine (V) at amino acid position 11 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |