Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003383840 | SCV004089215 | uncertain significance | Inborn genetic diseases | 2023-09-13 | criteria provided, single submitter | clinical testing | The c.2347G>C (p.V783L) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a G to C substitution at nucleotide position 2347, causing the valine (V) at amino acid position 783 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |