Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000558569 | SCV000643405 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-06-09 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000596680 | SCV000709185 | uncertain significance | not provided | 2017-06-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000596680 | SCV001745472 | likely benign | not provided | 2018-08-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002438406 | SCV002749209 | uncertain significance | Cardiovascular phenotype | 2018-04-12 | criteria provided, single submitter | clinical testing | The p.I9922T variant (also known as c.29765T>C), located in coding exon 118 of the TTN gene, results from a T to C substitution at nucleotide position 29765. The isoleucine at codon 9922 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other 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. |