Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193322 | SCV000249278 | uncertain significance | not specified | 2014-08-06 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000193322 | SCV000272751 | uncertain significance | not specified | 2016-03-03 | criteria provided, single submitter | clinical testing | The p.Thr22097Met variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 15/66394 European chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs144398602). Computational prediction tools and conservation analysis do not pr ovide strong support for or against an impact to the protein. In summary, the cl inical significance of the p.Thr22097Met variant is uncertain. |
Eurofins Ntd Llc |
RCV000727062 | SCV000705294 | uncertain significance | not provided | 2017-01-05 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852504 | SCV000995200 | uncertain significance | Cardiomyopathy | 2017-12-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727062 | SCV001822265 | likely benign | not provided | 2019-02-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336518 | SCV002638161 | likely benign | Cardiovascular phenotype | 2019-07-29 | 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. |