Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003471853 | SCV004209085 | uncertain significance | Palmoplantar keratoderma-esophageal carcinoma syndrome | 2024-03-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004364793 | SCV004939889 | uncertain significance | Inborn genetic diseases | 2023-11-13 | criteria provided, single submitter | clinical testing | The c.152G>A (p.G51D) alteration is located in exon 4 (coding exon 2) of the RHBDF2 gene. This alteration results from a G to A substitution at nucleotide position 152, causing the glycine (G) at amino acid position 51 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |