Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004459605 | SCV004953304 | uncertain significance | Inborn genetic diseases | 2023-11-07 | criteria provided, single submitter | clinical testing | The c.976C>G (p.L326V) alteration is located in exon 5 (coding exon 4) of the SLX4 gene. This alteration results from a C to G substitution at nucleotide position 976, causing the leucine (L) at amino acid position 326 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |