Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151271 | SCV000199193 | uncertain significance | not specified | 2014-02-06 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The 2424-12G>T vari ant in MYH7 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing, though this information is not predictive enough to rule out pathogenicity. Although th is data supports that this variant may be benign, additional studies are needed to fully assess its clinical significance. |