Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000528780 | SCV000643159 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-05-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591239 | SCV001823092 | likely benign | not provided | 2020-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002330889 | SCV002630048 | uncertain significance | Cardiovascular phenotype | 2019-09-09 | criteria provided, single submitter | clinical testing | The p.E143K variant (also known as c.427G>A), located in coding exon 3 of the TTN gene, results from a G to A substitution at nucleotide position 427. The glutamic acid at codon 143 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001591239 | SCV003825440 | uncertain significance | not provided | 2020-08-18 | criteria provided, single submitter | clinical testing |