Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002930498 | SCV003671738 | uncertain significance | Inborn genetic diseases | 2022-12-05 | criteria provided, single submitter | clinical testing | The c.694C>G (p.R232G) alteration is located in exon 6 (coding exon 6) of the ARFGEF2 gene. This alteration results from a C to G substitution at nucleotide position 694, causing the arginine (R) at amino acid position 232 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |