Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552924 | SCV000642872 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000614215 | SCV000730228 | likely benign | not specified | 2018-02-21 | 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. |
Athena Diagnostics Inc | RCV000614215 | SCV001880232 | likely benign | not specified | 2021-02-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003457719 | SCV004183829 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |