Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003212750 | SCV003908498 | uncertain significance | Inborn genetic diseases | 2023-02-28 | criteria provided, single submitter | clinical testing | The c.2684A>C (p.Q895P) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a A to C substitution at nucleotide position 2684, causing the glutamine (Q) at amino acid position 895 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |