Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000116407 | SCV000150331 | uncertain significance | not provided | 2013-10-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003242985 | SCV003940686 | uncertain significance | Inborn genetic diseases | 2023-06-05 | criteria provided, single submitter | clinical testing | The c.4939T>A (p.S1647T) alteration is located in exon 37 (coding exon 37) of the ARFGEF2 gene. This alteration results from a T to A substitution at nucleotide position 4939, causing the serine (S) at amino acid position 1647 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |