Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152278 | SCV000201130 | uncertain significance | not specified | 2014-06-27 | criteria provided, single submitter | clinical testing | The Arg16756Gln variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/200 Southern Han Chinese chromo somes by the 1000 Genomes Project (dbSNP rs186809500). Computational prediction tools and conservation analysis suggest that this variant may impact the protein , though this information is not predictive enough to determine pathogenicity. I n summary, the clinical significance of the Arg16756Gln variant is uncertain. |
Gene |
RCV001537817 | SCV000725189 | likely benign | not provided | 2019-07-16 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31983221) |
Ambry Genetics | RCV002319447 | SCV002606805 | likely benign | Cardiovascular phenotype | 2019-06-24 | 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, |
RCV001537817 | SCV003818522 | uncertain significance | not provided | 2020-12-07 | criteria provided, single submitter | clinical testing |