Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436163 | SCV004925216 | uncertain significance | not specified | 2024-01-19 | criteria provided, single submitter | clinical testing | The c.3742C>G (p.L1248V) alteration is located in exon 27 (coding exon 24) of the CEP250 gene. This alteration results from a C to G substitution at nucleotide position 3742, causing the leucine (L) at amino acid position 1248 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |