Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002821642 | SCV003600280 | uncertain significance | Inborn genetic diseases | 2022-01-26 | criteria provided, single submitter | clinical testing | The c.5102A>G (p.E1701G) alteration is located in exon 14 (coding exon 13) of the SLX4 gene. This alteration results from a A to G substitution at nucleotide position 5102, causing the glutamic acid (E) at amino acid position 1701 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |