Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000246953 | SCV000307312 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000526264 | SCV000640718 | likely benign | Nemaline myopathy 2 | 2019-12-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000246953 | SCV000718940 | likely benign | not specified | 2017-05-03 | 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. |
Natera, |
RCV000526264 | SCV001456470 | uncertain significance | Nemaline myopathy 2 | 2020-01-17 | no assertion criteria provided | clinical testing |