Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003198865 | SCV003898026 | uncertain significance | Inborn genetic diseases | 2023-01-23 | criteria provided, single submitter | clinical testing | The c.737A>T (p.E246V) alteration is located in exon 6 (coding exon 6) of the ARFGEF2 gene. This alteration results from a A to T substitution at nucleotide position 737, causing the glutamic acid (E) at amino acid position 246 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |