Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436159 | SCV004925202 | uncertain significance | not specified | 2023-12-21 | criteria provided, single submitter | clinical testing | The c.1355T>G (p.V452G) alteration is located in exon 13 (coding exon 10) of the CEP250 gene. This alteration results from a T to G substitution at nucleotide position 1355, causing the valine (V) at amino acid position 452 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |