Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004178833 | SCV003657913 | uncertain significance | not specified | 2022-12-01 | criteria provided, single submitter | clinical testing | The c.4241C>T (p.A1414V) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a C to T substitution at nucleotide position 4241, causing the alanine (A) at amino acid position 1414 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |