Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004152473 | SCV003632709 | uncertain significance | not specified | 2022-07-20 | criteria provided, single submitter | clinical testing | The c.2687C>A (p.T896K) alteration is located in exon 21 (coding exon 18) of the CEP250 gene. This alteration results from a C to A substitution at nucleotide position 2687, causing the threonine (T) at amino acid position 896 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |