Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727712 | SCV000855062 | uncertain significance | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769928 | SCV000901354 | uncertain significance | Cardiomyopathy | 2016-10-27 | criteria provided, single submitter | clinical testing | |
Genetics and Genomics Program, |
RCV001293050 | SCV001434030 | likely benign | Hypertrophic cardiomyopathy | criteria provided, single submitter | research | ||
Ambry Genetics | RCV002343594 | SCV002641677 | uncertain significance | Cardiovascular phenotype | 2018-09-12 | criteria provided, single submitter | clinical testing | The p.K17947N variant (also known as c.53841G>T), located in coding exon 153 of the TTN gene, results from a G to T substitution at nucleotide position 53841. The lysine at codon 17947 is replaced by asparagine, an amino acid with similar properties. Based on data from gnomAD, the T allele has an overall frequency of approximately 0.02% ((48/245328) total alleles studied. The highest observed frequency was 0.16% (48/30764) of South Asian alleles. 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, |
RCV000727712 | SCV003826651 | uncertain significance | not provided | 2022-04-21 | criteria provided, single submitter | clinical testing |