Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000611070 | SCV000729363 | likely benign | not specified | 2017-04-11 | 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. |
Ce |
RCV001311971 | SCV001502369 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Invitae | RCV001418813 | SCV001621052 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-09-21 | criteria provided, single submitter | clinical testing |