Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152410 | SCV000201435 | uncertain significance | not specified | 2013-10-15 | criteria provided, single submitter | clinical testing | The Gly3524Ser variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational analyses (bioche mical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do no t provide strong support for or against an impact to the protein. Additional inf ormation is needed to fully assess the clinical significance of the Gly3524Ser v ariant. |
Gene |
RCV000152410 | SCV000238195 | likely benign | not specified | 2018-02-12 | 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. |
Eurofins Ntd Llc |
RCV000725300 | SCV000335822 | uncertain significance | not provided | 2015-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000560224 | SCV000642691 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-07-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381481 | SCV002693273 | likely benign | Cardiovascular phenotype | 2020-01-16 | 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, |
RCV000725300 | SCV003826711 | uncertain significance | not provided | 2020-08-13 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486683 | SCV004239826 | likely benign | Cardiomyopathy | 2023-03-21 | criteria provided, single submitter | clinical testing |