Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004263415 | SCV003887080 | uncertain significance | not specified | 2023-02-27 | criteria provided, single submitter | clinical testing | The c.6827A>G (p.Q2276R) alteration is located in exon 32 (coding exon 29) of the CEP250 gene. This alteration results from a A to G substitution at nucleotide position 6827, causing the glutamine (Q) at amino acid position 2276 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |