Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040718 | SCV000064409 | uncertain significance | not specified | 2013-02-20 | criteria provided, single submitter | clinical testing | The Arg26022Gln variant in TTN has not been reported in the literature nor previ ously identified by our laboratory but has been identified in 1/8208 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide st rong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Arg26022Gln variant. |
Gene |
RCV000832933 | SCV000974690 | likely benign | not provided | 2021-03-18 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000832933 | SCV003824844 | uncertain significance | not provided | 2023-03-30 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486602 | SCV004240144 | likely benign | Cardiomyopathy | 2023-01-18 | criteria provided, single submitter | clinical testing |