Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001176382 | SCV001340354 | uncertain significance | Cardiomyopathy | 2018-11-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002559692 | SCV003643689 | uncertain significance | Inborn genetic diseases | 2022-08-29 | criteria provided, single submitter | clinical testing | The c.230G>A (p.G77D) alteration is located in exon 3 (coding exon 3) of the DSC2 gene. This alteration results from a G to A substitution at nucleotide position 230, causing the glycine (G) at amino acid position 77 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |