Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217615 | SCV000272661 | uncertain significance | not specified | 2015-04-04 | criteria provided, single submitter | clinical testing | The p.Ser14Ile variant in TTN has not been reported in individuals with cardiomy opathy, but has been identified in 1/65982 European chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org). Computational predic tion tools and conservation analysis do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of the p.Ser14 Ile variant is uncertain. |
Eurofins Ntd Llc |
RCV000726334 | SCV000343844 | uncertain significance | not provided | 2016-09-05 | criteria provided, single submitter | clinical testing |