Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000230408 | SCV000286545 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727265 | SCV000707088 | uncertain significance | not provided | 2017-03-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000594931 | SCV000715155 | likely benign | not specified | 2018-02-05 | 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. |