Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002752784 | SCV003583875 | uncertain significance | Inborn genetic diseases | 2021-09-17 | criteria provided, single submitter | clinical testing | The c.3095G>A (p.G1032E) alteration is located in exon 22 (coding exon 22) of the ARFGEF2 gene. This alteration results from a G to A substitution at nucleotide position 3095, causing the glycine (G) at amino acid position 1032 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |