Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040330 | SCV000064021 | uncertain significance | not specified | 2012-08-22 | criteria provided, single submitter | clinical testing | The Arg14814Gly variant in TTN has not been reported in the literature nor previ ously identified in our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the va riant may impact the protein, though this information is not predictive enough t o determine pathogenicity. Additional studies are needed to fully assess the cli nical significance of this variant. |
Eurofins Ntd Llc |
RCV000727140 | SCV000706087 | uncertain significance | not provided | 2017-02-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727140 | SCV000721000 | likely benign | not provided | 2020-07-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084774 | SCV001106303 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-19 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798158 | SCV002042529 | benign | Cardiomyopathy | 2020-06-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426576 | SCV002741838 | likely benign | Cardiovascular phenotype | 2018-07-09 | 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, |
RCV000727140 | SCV003822338 | uncertain significance | not provided | 2023-09-14 | criteria provided, single submitter | clinical testing |