Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040163 | SCV000063854 | uncertain significance | not specified | 2012-01-24 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The 30095-8C>T vari ant (TTN) has been identified in 0.1% (4/2944) of African American chromosomes b y the NHLBI Exome Sequencing Project in a broad population (http://evs.gs.washin gton.edu/EVS). This variant is located in the 3' splice region and computational tools do not predict altered splicing, though this information is not predictiv e enough to rule out pathogenicity. Although this data suggests that the 30095-8 C>T variant may be benign, additional information is needed to fully assess its clinical significance. |
Eurofins Ntd Llc |
RCV000725591 | SCV000337972 | uncertain significance | not provided | 2015-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000040163 | SCV000516620 | benign | not specified | 2016-04-13 | 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 | RCV001088808 | SCV000555040 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-18 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798145 | SCV002042447 | benign | Cardiomyopathy | 2020-12-11 | criteria provided, single submitter | clinical testing |