Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004157973 | SCV003639494 | uncertain significance | not specified | 2022-08-22 | criteria provided, single submitter | clinical testing | The c.4301A>G (p.E1434G) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a A to G substitution at nucleotide position 4301, causing the glutamic acid (E) at amino acid position 1434 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |