Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002719451 | SCV003571883 | uncertain significance | Inborn genetic diseases | 2021-08-04 | criteria provided, single submitter | clinical testing | The c.4553A>G (p.E1518G) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a A to G substitution at nucleotide position 4553, causing the glutamic acid (E) at amino acid position 1518 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |