Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002722717 | SCV003559185 | uncertain significance | Inborn genetic diseases | 2021-05-24 | criteria provided, single submitter | clinical testing | The c.2672G>A (p.R891Q) alteration is located in exon 19 (coding exon 19) of the ARFGEF2 gene. This alteration results from a G to A substitution at nucleotide position 2672, causing the arginine (R) at amino acid position 891 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |