Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002742303 | SCV003575098 | uncertain significance | Inborn genetic diseases | 2021-08-02 | criteria provided, single submitter | clinical testing | The c.5293G>A (p.A1765T) alteration is located in exon 15 (coding exon 14) of the SLX4 gene. This alteration results from a G to A substitution at nucleotide position 5293, causing the alanine (A) at amino acid position 1765 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |