Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004420277 | SCV004905884 | uncertain significance | Inborn genetic diseases | 2023-12-27 | criteria provided, single submitter | clinical testing | The c.3202G>A (p.V1068M) alteration is located in exon 23 (coding exon 23) of the ARFGEF2 gene. This alteration results from a G to A substitution at nucleotide position 3202, causing the valine (V) at amino acid position 1068 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |