Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436165 | SCV004925221 | uncertain significance | not specified | 2024-03-07 | criteria provided, single submitter | clinical testing | The c.4870G>C (p.E1624Q) 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 4870, causing the glutamic acid (E) at amino acid position 1624 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |