Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156352 | SCV000206070 | uncertain significance | not specified | 2014-03-14 | criteria provided, single submitter | clinical testing | The Asn33144His variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational prediction tools and conse rvation analysis do not provide strong support for or against an impact to the p rotein. Additional information is needed to fully assess the clinical significan ce of the Asn33144His variant. |
Gene |
RCV001719980 | SCV000237973 | likely benign | not provided | 2019-11-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27930701) |
Revvity Omics, |
RCV001719980 | SCV003824748 | uncertain significance | not provided | 2019-06-26 | criteria provided, single submitter | clinical testing |