Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000616659 | SCV000726032 | likely benign | not specified | 2017-12-18 | 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 |
RCV003884663 | SCV004702621 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | TTN: PM2:Supporting, BP4, BP7 |