Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436169 | SCV004926198 | uncertain significance | not specified | 2023-12-20 | criteria provided, single submitter | clinical testing | The c.6091C>T (p.L2031F) 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 6091, causing the leucine (L) at amino acid position 2031 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |