Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004420275 | SCV004905880 | uncertain significance | Inborn genetic diseases | 2023-12-08 | criteria provided, single submitter | clinical testing | The c.2532G>T (p.Q844H) alteration is located in exon 18 (coding exon 18) of the ARFGEF2 gene. This alteration results from a G to T substitution at nucleotide position 2532, causing the glutamine (Q) at amino acid position 844 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |