Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725099 | SCV000334003 | uncertain significance | not provided | 2015-08-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000338923 | SCV000515110 | benign | not specified | 2015-08-21 | 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. |
Invitae | RCV001088764 | SCV000555225 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725099 | SCV001153006 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
CHEO Genetics Diagnostic Laboratory, |
RCV003150148 | SCV003838026 | likely benign | Cardiomyopathy | 2022-12-29 | criteria provided, single submitter | clinical testing |