Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220183 | SCV000272218 | uncertain significance | not specified | 2015-01-19 | criteria provided, single submitter | clinical testing | The p.Gly29Val variant in NEXN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis suggest that this variant may impact the protein, th ough this information is not predictive enough to determine pathogenicity. In su mmary, the clinical significance of the p.Gly29Val variant is uncertain. |
Fulgent Genetics, |
RCV000765399 | SCV000896675 | uncertain significance | Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 | 2018-10-31 | criteria provided, single submitter | clinical testing |