Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002830773 | SCV003614115 | uncertain significance | Inborn genetic diseases | 2022-04-07 | criteria provided, single submitter | clinical testing | The c.4511A>T (p.D1504V) alteration is located in exon 34 (coding exon 34) of the ARFGEF2 gene. This alteration results from a A to T substitution at nucleotide position 4511, causing the aspartic acid (D) at amino acid position 1504 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |