Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000517138 | SCV000615995 | uncertain significance | not specified | 2016-11-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002384000 | SCV002693274 | uncertain significance | Cardiovascular phenotype | 2019-10-18 | criteria provided, single submitter | clinical testing | The p.E4406V variant (also known as c.13217A>T), located in coding exon 45 of the TTN gene, results from an A to T substitution at nucleotide position 13217. The glutamic acid at codon 4406 is replaced by valine, an amino acid with dissimilar 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. |
Fulgent Genetics, |
RCV002490893 | SCV002781047 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-10-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003139723 | SCV003825921 | uncertain significance | not provided | 2019-06-27 | criteria provided, single submitter | clinical testing |