Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436167 | SCV004926194 | uncertain significance | not specified | 2024-01-29 | criteria provided, single submitter | clinical testing | The c.5644G>T (p.V1882F) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a G to T substitution at nucleotide position 5644, causing the valine (V) at amino acid position 1882 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |