Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436158 | SCV004925201 | uncertain significance | not specified | 2024-02-05 | criteria provided, single submitter | clinical testing | The c.1294G>A (p.A432T) alteration is located in exon 13 (coding exon 10) of the CEP250 gene. This alteration results from a G to A substitution at nucleotide position 1294, causing the alanine (A) at amino acid position 432 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |