Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039904 | SCV000063595 | likely benign | not specified | 2012-04-11 | criteria provided, single submitter | clinical testing | Leu4732Leu in exon 58 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Leu4732Leu in exon 58 of TTN (allele frequen cy = n/a) |
Eurofins Ntd Llc |
RCV000724392 | SCV000231424 | uncertain significance | not provided | 2014-11-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000039904 | SCV000236736 | benign | not specified | 2014-09-09 | 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 |
RCV000526756 | SCV000642746 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-27 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486571 | SCV004239838 | likely benign | Cardiomyopathy | 2023-02-24 | criteria provided, single submitter | clinical testing |