Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003245641 | SCV003952112 | uncertain significance | Inborn genetic diseases | 2023-05-18 | criteria provided, single submitter | clinical testing | The c.2117A>G (p.E706G) alteration is located in exon 16 (coding exon 16) of the ARFGEF2 gene. This alteration results from a A to G substitution at nucleotide position 2117, causing the glutamic acid (E) at amino acid position 706 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |