Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002987828 | SCV003708338 | uncertain significance | Inborn genetic diseases | 2021-06-21 | criteria provided, single submitter | clinical testing | The c.1289C>T (p.S430L) alteration is located in exon 6 (coding exon 5) of the SLX4 gene. This alteration results from a C to T substitution at nucleotide position 1289, causing the serine (S) at amino acid position 430 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |