Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003362294 | SCV004079552 | uncertain significance | Inborn genetic diseases | 2023-07-19 | criteria provided, single submitter | clinical testing | The c.3219G>C (p.L1073F) 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 3219, causing the leucine (L) at amino acid position 1073 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |