Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004436173 | SCV004926208 | uncertain significance | not specified | 2023-11-22 | criteria provided, single submitter | clinical testing | The c.6995C>T (p.S2332L) alteration is located in exon 33 (coding exon 30) of the CEP250 gene. This alteration results from a C to T substitution at nucleotide position 6995, causing the serine (S) at amino acid position 2332 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |