Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040717 | SCV000064408 | uncertain significance | not specified | 2013-03-06 | criteria provided, single submitter | clinical testing | The Ile26014Lys in TTN has not been reported in the literature nor previously id entified by our laboratory. This variant has been identified in 0.1% (5/3696) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs201688358). Computationa l analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen 2, and SIFT) suggest that this variant may impact the protein, though this infor mation is not predictive enough to determine pathogenicity. In summary, addition al information is needed to fully assess the clinical significance of this varia nt. |
Eurofins Ntd Llc |
RCV000725085 | SCV000333893 | uncertain significance | not provided | 2015-08-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000622216 | SCV000737214 | likely benign | Cardiovascular phenotype | 2020-03-23 | 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, |
RCV000725085 | SCV003820135 | uncertain significance | not provided | 2020-10-08 | criteria provided, single submitter | clinical testing |