Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004319813 | SCV003983402 | uncertain significance | not specified | 2023-05-22 | criteria provided, single submitter | clinical testing | The c.4573G>C (p.E1525Q) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a G to C substitution at nucleotide position 4573, causing the glutamic acid (E) at amino acid position 1525 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |