Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004420276 | SCV004905883 | uncertain significance | Inborn genetic diseases | 2023-12-30 | criteria provided, single submitter | clinical testing | The c.2849G>A (p.R950H) alteration is located in exon 21 (coding exon 21) of the ARFGEF2 gene. This alteration results from a G to A substitution at nucleotide position 2849, causing the arginine (R) at amino acid position 950 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |