Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002841297 | SCV003623855 | uncertain significance | Inborn genetic diseases | 2022-05-11 | criteria provided, single submitter | clinical testing | The c.4862T>G (p.L1621W) alteration is located in exon 14 (coding exon 13) of the SLX4 gene. This alteration results from a T to G substitution at nucleotide position 4862, causing the leucine (L) at amino acid position 1621 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |