Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004125133 | SCV003596284 | uncertain significance | not specified | 2021-12-20 | criteria provided, single submitter | clinical testing | The c.1562G>A (p.R521K) alteration is located in exon 14 (coding exon 11) of the CEP250 gene. This alteration results from a G to A substitution at nucleotide position 1562, causing the arginine (R) at amino acid position 521 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |