Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004459604 | SCV004953301 | uncertain significance | Inborn genetic diseases | 2024-02-27 | criteria provided, single submitter | clinical testing | The c.4921G>A (p.V1641I) alteration is located in exon 14 (coding exon 13) of the SLX4 gene. This alteration results from a G to A substitution at nucleotide position 4921, causing the valine (V) at amino acid position 1641 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |