Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002738982 | SCV003745236 | uncertain significance | Inborn genetic diseases | 2021-08-02 | criteria provided, single submitter | clinical testing | The c.4904G>A (p.R1635Q) alteration is located in exon 36 (coding exon 36) of the ARFGEF2 gene. This alteration results from a G to A substitution at nucleotide position 4904, causing the arginine (R) at amino acid position 1635 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |