Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000208529 | SCV000263756 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2015-11-24 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000219756 | SCV000271488 | uncertain significance | not specified | 2015-04-07 | criteria provided, single submitter | clinical testing | The p.Met285Thr variant in ACTC1 has not been previously reported in individuals with cardiomyopathy or large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, tho ugh this information is not predictive enough to determine pathogenicity. In sum mary, the clinical significance of the p.Met285Thr variant is uncertain. |