Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004420271 | SCV004908517 | uncertain significance | Inborn genetic diseases | 2023-11-27 | criteria provided, single submitter | clinical testing | The c.154C>T (p.L52F) alteration is located in exon 3 (coding exon 3) of the ARFGEF2 gene. This alteration results from a C to T substitution at nucleotide position 154, causing the leucine (L) at amino acid position 52 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |