Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004153025 | SCV003641253 | uncertain significance | not specified | 2022-08-08 | criteria provided, single submitter | clinical testing | The c.2095T>A (p.S699T) alteration is located in exon 18 (coding exon 15) of the CEP250 gene. This alteration results from a T to A substitution at nucleotide position 2095, causing the serine (S) at amino acid position 699 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |