Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152170 | SCV000200895 | uncertain significance | not specified | 2013-04-03 | criteria provided, single submitter | clinical testing | The Asp30254Gly variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has not been identified in larg e European American and African American populations by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/), though it may be present in othe r populations. Computational analyses (conservation, PolyPhen2, and SIFT) sugges t that this variant may impact the protein, though this information is not predi ctive enough to determine pathogenicity. Additional information is needed to ful ly assess the clinical significance of this variant. |
Eurofins Ntd Llc |
RCV000727745 | SCV000855121 | uncertain significance | not provided | 2018-06-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001088064 | SCV001131863 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Genetics and Genomics Program, |
RCV001293127 | SCV001434117 | uncertain significance | Primary dilated cardiomyopathy | criteria provided, single submitter | research | ||
Gene |
RCV000727745 | SCV001873630 | likely benign | not provided | 2021-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002371998 | SCV002667917 | uncertain significance | Cardiovascular phenotype | 2018-08-28 | criteria provided, single submitter | clinical testing | The p.D23757G variant (also known as c.71270A>G), located in coding exon 179 of the TTN gene, results from an A to G substitution at nucleotide position 71270. The aspartic acid at codon 23757 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000727745 | SCV003825507 | uncertain significance | not provided | 2023-06-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486672 | SCV004240199 | benign | Cardiomyopathy | 2023-05-16 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000727745 | SCV005412984 | uncertain significance | not provided | 2024-02-12 | criteria provided, single submitter | clinical testing |