Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532102 | SCV000648346 | benign | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000605718 | SCV000729946 | benign | not specified | 2017-04-06 | 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. |