Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214437 | SCV000272683 | uncertain significance | not specified | 2016-03-18 | criteria provided, single submitter | clinical testing | The p.Arg15075Trp variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 6/9798 African chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3 75944265).Computational prediction tools and conservation analysis suggest that the p.Arg15075Trp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signific ance of the p.Arg15075Trp variant is uncertain. |
Gene |
RCV001697291 | SCV000726906 | likely benign | not provided | 2019-02-07 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31983221) |
Ambry Genetics | RCV002429077 | SCV002743071 | likely benign | Cardiovascular phenotype | 2020-03-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Revvity Omics, |
RCV001697291 | SCV003820271 | uncertain significance | not provided | 2020-11-07 | criteria provided, single submitter | clinical testing |