Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003192399 | SCV003885591 | uncertain significance | Inborn genetic diseases | 2023-03-02 | criteria provided, single submitter | clinical testing | The c.2200C>T (p.R734C) alteration is located in exon 16 (coding exon 16) of the ARFGEF2 gene. This alteration results from a C to T substitution at nucleotide position 2200, causing the arginine (R) at amino acid position 734 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |