Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004459598 | SCV004953291 | uncertain significance | Inborn genetic diseases | 2023-11-17 | criteria provided, single submitter | clinical testing | The c.3721C>A (p.R1241S) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a C to A substitution at nucleotide position 3721, causing the arginine (R) at amino acid position 1241 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |