Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004459599 | SCV004953292 | uncertain significance | Inborn genetic diseases | 2024-03-07 | criteria provided, single submitter | clinical testing | The c.3847G>A (p.A1283T) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a G to A substitution at nucleotide position 3847, causing the alanine (A) at amino acid position 1283 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |