Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000471711 | SCV000542444 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-12-14 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002323678 | SCV002626561 | uncertain significance | Cardiovascular phenotype | 2018-11-29 | criteria provided, single submitter | clinical testing | The p.V1364L variant (also known as c.4090G>C), located in coding exon 23 of the TTN gene, results from a G to C substitution at nucleotide position 4090. The valine at codon 1364 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and leucine 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. |
| Athena Diagnostics | RCV002473008 | SCV002770569 | uncertain significance | not provided | 2021-07-29 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002502605 | SCV002781682 | 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 | 2021-10-17 | criteria provided, single submitter | clinical testing |