Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002719645 | SCV003737507 | uncertain significance | Inborn genetic diseases | 2022-04-25 | criteria provided, single submitter | clinical testing | The c.1216G>A (p.V406I) alteration is located in exon 10 (coding exon 10) of the ARFGEF2 gene. This alteration results from a G to A substitution at nucleotide position 1216, causing the valine (V) at amino acid position 406 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |