Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721148 | SCV000236768 | likely benign | not provided | 2018-08-13 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000643651 | SCV000765338 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321739 | SCV002609985 | uncertain significance | Cardiovascular phenotype | 2020-01-29 | criteria provided, single submitter | clinical testing | The p.E10554D variant (also known as c.31662A>C), located in coding exon 126 of the TTN gene, results from an A to C substitution at nucleotide position 31662. The glutamic acid at codon 10554 is replaced by aspartic acid, 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, |
RCV001721148 | SCV003820141 | uncertain significance | not provided | 2020-03-26 | criteria provided, single submitter | clinical testing |