Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004459592 | SCV004953278 | uncertain significance | Inborn genetic diseases | 2023-10-17 | criteria provided, single submitter | clinical testing | The c.1663G>C (p.V555L) alteration is located in exon 7 (coding exon 6) of the SLX4 gene. This alteration results from a G to C substitution at nucleotide position 1663, causing the valine (V) at amino acid position 555 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |