Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436160 | SCV004925205 | uncertain significance | not specified | 2023-09-23 | criteria provided, single submitter | clinical testing | The c.1619G>A (p.S540N) alteration is located in exon 15 (coding exon 12) of the CEP250 gene. This alteration results from a G to A substitution at nucleotide position 1619, causing the serine (S) at amino acid position 540 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |