Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436170 | SCV004926200 | uncertain significance | not specified | 2024-01-30 | criteria provided, single submitter | clinical testing | The c.628G>T (p.V210L) alteration is located in exon 9 (coding exon 6) of the CEP250 gene. This alteration results from a G to T substitution at nucleotide position 628, causing the valine (V) at amino acid position 210 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |