Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004459594 | SCV004953281 | uncertain significance | Inborn genetic diseases | 2023-12-22 | criteria provided, single submitter | clinical testing | The c.2264T>A (p.L755H) alteration is located in exon 11 (coding exon 10) of the SLX4 gene. This alteration results from a T to A substitution at nucleotide position 2264, causing the leucine (L) at amino acid position 755 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |