Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000608751 | SCV000726798 | likely benign | not specified | 2018-01-29 | 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. |
Invitae | RCV000641954 | SCV000763605 | likely benign | Nemaline myopathy 5 | 2023-09-01 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV000641954 | SCV001984265 | likely benign | Nemaline myopathy 5 | 2020-03-22 | criteria provided, single submitter | clinical testing |