Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004872042 | SCV005518326 | uncertain significance | not specified | 2024-11-24 | criteria provided, single submitter | clinical testing | The c.2630G>T (p.G877V) alteration is located in exon 16 (coding exon 15) of the TDRD5 gene. This alteration results from a G to T substitution at nucleotide position 2630, causing the glycine (G) at amino acid position 877 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |