Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004420272 | SCV004905877 | uncertain significance | Inborn genetic diseases | 2023-10-13 | criteria provided, single submitter | clinical testing | The c.187A>G (p.I63V) alteration is located in exon 3 (coding exon 3) of the ARFGEF2 gene. This alteration results from a A to G substitution at nucleotide position 187, causing the isoleucine (I) at amino acid position 63 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |