Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002878366 | SCV003634453 | uncertain significance | Inborn genetic diseases | 2022-07-07 | criteria provided, single submitter | clinical testing | The c.1708A>C (p.I570L) alteration is located in exon 13 (coding exon 13) of the ARFGEF2 gene. This alteration results from a A to C substitution at nucleotide position 1708, causing the isoleucine (I) at amino acid position 570 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |