Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436171 | SCV004926203 | uncertain significance | not specified | 2023-10-13 | criteria provided, single submitter | clinical testing | The c.683A>T (p.Q228L) alteration is located in exon 9 (coding exon 6) of the CEP250 gene. This alteration results from a A to T substitution at nucleotide position 683, causing the glutamine (Q) at amino acid position 228 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |