Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436172 | SCV004926207 | uncertain significance | not specified | 2023-11-21 | criteria provided, single submitter | clinical testing | The c.6885G>C (p.Q2295H) alteration is located in exon 32 (coding exon 29) of the CEP250 gene. This alteration results from a G to C substitution at nucleotide position 6885, causing the glutamine (Q) at amino acid position 2295 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |