Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002709483 | SCV003737336 | uncertain significance | Inborn genetic diseases | 2021-09-17 | criteria provided, single submitter | clinical testing | The c.1042T>A (p.S348T) alteration is located in exon 8 (coding exon 8) of the ARFGEF2 gene. This alteration results from a T to A substitution at nucleotide position 1042, causing the serine (S) at amino acid position 348 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |