Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436174 | SCV004926210 | uncertain significance | not specified | 2023-12-19 | criteria provided, single submitter | clinical testing | The c.73C>G (p.L25V) alteration is located in exon 4 (coding exon 1) of the CEP250 gene. This alteration results from a C to G substitution at nucleotide position 73, causing the leucine (L) at amino acid position 25 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |