Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000611384 | SCV000726458 | likely benign | not specified | 2018-01-03 | 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. |
ARUP Laboratories, |
RCV001811107 | SCV002049498 | likely benign | not provided | 2020-12-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002064255 | SCV002399849 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-02 | criteria provided, single submitter | clinical testing |