Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176905 | SCV000228675 | uncertain significance | not provided | 2015-03-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000228254 | SCV000286908 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-02-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000176905 | SCV001826602 | likely benign | not provided | 2020-05-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362901 | SCV002658591 | uncertain significance | Cardiovascular phenotype | 2019-06-24 | criteria provided, single submitter | clinical testing | The p.E21413D variant (also known as c.64239A>C), located in coding exon 163 of the TTN gene, results from an A to C substitution at nucleotide position 64239. The glutamic acid at codon 21413 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. |