Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004144829 | SCV003627330 | uncertain significance | not specified | 2022-06-09 | criteria provided, single submitter | clinical testing | The c.6203G>A (p.R2068K) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a G to A substitution at nucleotide position 6203, causing the arginine (R) at amino acid position 2068 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |