Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156709 | SCV000206430 | uncertain significance | not specified | 2014-07-23 | criteria provided, single submitter | clinical testing | The Arg26138Gln variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. This variant has been listed in dbSNP without frequency information (dbSNP rs199788826). 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 Arg2613 8Gln variant is uncertain. |
Eurofins Ntd Llc |
RCV000156709 | SCV000701075 | likely benign | not specified | 2017-05-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000156709 | SCV000714727 | benign | not specified | 2018-03-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000643058 | SCV000764745 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000768881 | SCV000900254 | benign | Cardiomyopathy | 2019-06-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354383 | SCV002653613 | likely benign | Cardiovascular phenotype | 2018-12-05 | 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. |
Clinical Genetics, |
RCV000156709 | SCV001925570 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001726012 | SCV001965903 | likely benign | not provided | no assertion criteria provided | clinical testing |