Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002936297 | SCV003672038 | uncertain significance | Inborn genetic diseases | 2022-12-21 | criteria provided, single submitter | clinical testing | The c.2986A>G (p.I996V) alteration is located in exon 22 (coding exon 22) of the ARFGEF2 gene. This alteration results from a A to G substitution at nucleotide position 2986, causing the isoleucine (I) at amino acid position 996 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |