Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002334651 | SCV002636408 | uncertain significance | Cardiovascular phenotype | 2020-03-17 | criteria provided, single submitter | clinical testing | The p.R15677H variant (also known as c.47030G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 47030. The arginine at codon 15677 is replaced by histidine, an amino acid with highly similar 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, |
RCV002496056 | SCV002788608 | 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 | 2021-10-18 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001730409 | SCV003824156 | uncertain significance | not provided | 2020-11-20 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001730409 | SCV001979316 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001730409 | SCV001980439 | uncertain significance | not provided | no assertion criteria provided | clinical testing |