Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004133820 | SCV003607435 | uncertain significance | not specified | 2022-04-01 | criteria provided, single submitter | clinical testing | The c.5141A>C (p.K1714T) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a A to C substitution at nucleotide position 5141, causing the lysine (K) at amino acid position 1714 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |