Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214322 | SCV000271992 | uncertain significance | not specified | 2015-03-12 | criteria provided, single submitter | clinical testing | The p.Lys986Glu variant in MYBPC3 has not been previously reported in individual s with cardiomyopathy. Data from large population studies are insufficient to de termine its frequency. Lysine (Lys) at position 986 is not conserved in mammals or evolutionarily distant species and the change to glutamic acid (Glu) was pre dicted to be benign using a computational tool clinically validated by our labor atory. This tool's benign prediction is estimated to be correct 89% of the time (Jordan 2011). In summary, the clinical significance of the p.Lys986Glu variant is uncertain. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV001256765 | SCV001433204 | uncertain significance | Dilated cardiomyopathy 1A | 2019-10-10 | criteria provided, single submitter | clinical testing |