Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
New York Genome Center | RCV001263382 | SCV001441425 | uncertain significance | Global developmental delay | 2020-02-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002537654 | SCV003697983 | uncertain significance | Inborn genetic diseases | 2021-07-15 | criteria provided, single submitter | clinical testing | The c.2378C>T (p.T793M) alteration is located in exon 18 (coding exon 18) of the ARFGEF2 gene. This alteration results from a C to T substitution at nucleotide position 2378, causing the threonine (T) at amino acid position 793 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |