Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000313071 | SCV000345323 | uncertain significance | not provided | 2016-09-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000475193 | SCV000542694 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765569 | SCV000896884 | 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 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798776 | SCV002042506 | likely benign | Cardiomyopathy | 2022-02-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418137 | SCV002728915 | uncertain significance | Cardiovascular phenotype | 2020-01-28 | criteria provided, single submitter | clinical testing | The p.R6833Q variant (also known as c.20498G>A), located in coding exon 81 of the TTN gene, results from a G to A substitution at nucleotide position 20498. The arginine at codon 6833 is replaced by glutamine, an amino acid with highly similar 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. |
Revvity Omics, |
RCV000313071 | SCV003820209 | uncertain significance | not provided | 2019-03-29 | criteria provided, single submitter | clinical testing |