Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002831853 | SCV003619452 | uncertain significance | Inborn genetic diseases | 2022-05-05 | criteria provided, single submitter | clinical testing | The c.656C>T (p.P219L) alteration is located in exon 6 (coding exon 6) of the ARFGEF2 gene. This alteration results from a C to T substitution at nucleotide position 656, causing the proline (P) at amino acid position 219 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |