Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467683 | SCV000542644 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000600782 | SCV000722443 | likely benign | not specified | 2017-08-25 | 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. |
Ambry Genetics | RCV002356642 | SCV002650795 | uncertain significance | Cardiovascular phenotype | 2019-05-15 | criteria provided, single submitter | clinical testing | The p.R19426H variant (also known as c.58277G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 58277. The arginine at codon 19426 is replaced by histidine, an amino acid with highly 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, |
RCV003139617 | SCV003826694 | uncertain significance | not provided | 2022-12-09 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150214 | SCV003838528 | likely benign | Cardiomyopathy | 2021-11-15 | criteria provided, single submitter | clinical testing |