Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000604681 | SCV000712079 | uncertain significance | not specified | 2016-05-16 | criteria provided, single submitter | clinical testing | The p.His875Tyr variant in MYBPC3 has not been previously reported in individual s with cardiomyopathy and data from large population studies is insufficient to assess the frequency of this variant. This variant was predicted to be benign us ing a computational tool clinically validated by our laboratory. This tool's ben ign prediction is estimated to be correct 89% of the time (Jordan 2011). In summ ary, the clinical significance of the p.His875Tyr variant is uncertain. |
Blueprint Genetics | RCV000788957 | SCV000928259 | uncertain significance | not provided | 2019-03-02 | criteria provided, single submitter | clinical testing |