Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002804278 | SCV003605424 | uncertain significance | Inborn genetic diseases | 2022-01-04 | criteria provided, single submitter | clinical testing | The c.313G>A (p.G105S) alteration is located in exon 2 (coding exon 1) of the SLX4 gene. This alteration results from a G to A substitution at nucleotide position 313, causing the glycine (G) at amino acid position 105 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |