Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215272 | SCV000272185 | uncertain significance | not specified | 2015-05-07 | criteria provided, single submitter | clinical testing | The p.His1052His variant in MYPN has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in the last three bases of the exon, which is part of the 5? splice region. Computa tional tools do not predict altered splicing. However, this information is not p redictive enough to rule out pathogenicity. In summary, the clinical significanc e of the p.His1052His variant is uncertain. |
Invitae | RCV000878082 | SCV001020931 | likely benign | Dilated cardiomyopathy 1KK | 2022-10-24 | criteria provided, single submitter | clinical testing |