Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000317891 | SCV000341528 | uncertain significance | not provided | 2016-05-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000317891 | SCV001820287 | uncertain significance | not provided | 2021-04-26 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
CHEO Genetics Diagnostic Laboratory, |
RCV001798775 | SCV002042499 | uncertain significance | Cardiomyopathy | 2019-11-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418124 | SCV002723538 | uncertain significance | Cardiovascular phenotype | 2020-01-07 | criteria provided, single submitter | clinical testing | The p.R6597C variant (also known as c.19789C>T), located in coding exon 79 of the TTN gene, results from a C to T substitution at nucleotide position 19789. The arginine at codon 6597 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well 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, |
RCV002494872 | SCV002801372 | 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 | 2022-02-24 | criteria provided, single submitter | clinical testing |