Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003199898 | SCV003898863 | uncertain significance | Inborn genetic diseases | 2023-02-07 | criteria provided, single submitter | clinical testing | The c.5228T>G (p.M1743R) alteration is located in exon 39 (coding exon 39) of the ARFGEF2 gene. This alteration results from a T to G substitution at nucleotide position 5228, causing the methionine (M) at amino acid position 1743 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |