Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Revvity Omics, |
RCV003488600 | SCV004237447 | uncertain significance | not provided | 2023-07-24 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002489007 | SCV002800800 | 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 | 2021-09-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000619702 | SCV000736500 | uncertain significance | Cardiovascular phenotype | 2018-01-18 | criteria provided, single submitter | clinical testing | The p.S5978N variant (also known as c.17933G>A), located in coding exon 72 of the TTN gene, results from a G to A substitution at nucleotide position 17933. The serine at codon 5978 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species, and asparagine is the reference amino acid in several 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 variant remains unclear. |
| Labcorp Genetics |
RCV000464792 | SCV000542618 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-10-25 | criteria provided, single submitter | clinical testing |