Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436161 | SCV004925207 | uncertain significance | not specified | 2023-10-25 | criteria provided, single submitter | clinical testing | The c.1883C>A (p.S628Y) alteration is located in exon 17 (coding exon 14) of the CEP250 gene. This alteration results from a C to A substitution at nucleotide position 1883, causing the serine (S) at amino acid position 628 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |