Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156500 | SCV000206219 | likely benign | not specified | 2014-04-17 | criteria provided, single submitter | clinical testing | Thr13713Thr in exon 210 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. |
Gene |
RCV000156500 | SCV000732684 | likely benign | not specified | 2017-06-13 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000643481 | SCV000765168 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-05-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430715 | SCV004152407 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |