Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002883691 | SCV003636264 | uncertain significance | Inborn genetic diseases | 2022-08-02 | criteria provided, single submitter | clinical testing | The c.2591T>C (p.L864P) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a T to C substitution at nucleotide position 2591, causing the leucine (L) at amino acid position 864 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |