Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003310973 | SCV003998062 | uncertain significance | Inborn genetic diseases | 2023-05-05 | criteria provided, single submitter | clinical testing | The c.3619A>G (p.I1207V) alteration is located in exon 27 (coding exon 27) of the ARFGEF2 gene. This alteration results from a A to G substitution at nucleotide position 3619, causing the isoleucine (I) at amino acid position 1207 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |