Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004323516 | SCV003994561 | uncertain significance | not specified | 2023-06-07 | criteria provided, single submitter | clinical testing | The c.4128C>G (p.I1376M) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a C to G substitution at nucleotide position 4128, causing the isoleucine (I) at amino acid position 1376 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |