Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184180 | SCV000236800 | likely benign | not specified | 2017-03-16 | 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. |
Laboratory for Molecular Medicine, |
RCV000184180 | SCV000713221 | likely benign | not specified | 2019-01-18 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Invitae | RCV000642927 | SCV000764614 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000997342 | SCV001152625 | uncertain significance | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170527 | SCV001333110 | likely benign | Cardiomyopathy | 2018-02-01 | criteria provided, single submitter | clinical testing |