Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004314225 | SCV003975197 | uncertain significance | not specified | 2023-05-03 | criteria provided, single submitter | clinical testing | The c.5684A>C (p.E1895A) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a A to C substitution at nucleotide position 5684, causing the glutamic acid (E) at amino acid position 1895 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |