Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000643248 | SCV000764935 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-01-08 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV004799227 | SCV001468753 | uncertain significance | Dilated cardiomyopathy 1G; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2019-07-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001556473 | SCV001778062 | uncertain significance | not provided | 2019-07-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002397236 | SCV002713678 | uncertain significance | Cardiovascular phenotype | 2019-09-30 | criteria provided, single submitter | clinical testing | The p.E3526D variant (also known as c.10578G>T), located in coding exon 44 of the TTN gene, results from a G to T substitution at nucleotide position 10578. The glutamic acid at codon 3526 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, aspartic acid is the reference amino acid in other 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. |