Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222774 | SCV000272688 | uncertain significance | not specified | 2016-03-18 | criteria provided, single submitter | clinical testing | The p.Arg15597Cys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/15394 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSN P rs377575788). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg15597Cys variant is uncertain. |
Eurofins Ntd Llc |
RCV000727426 | SCV000708455 | uncertain significance | not provided | 2017-05-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000727426 | SCV003826561 | uncertain significance | not provided | 2021-02-24 | criteria provided, single submitter | clinical testing |