Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000841018 | SCV000982974 | likely benign | not provided | 2018-03-23 | 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 | RCV000841018 | SCV001653930 | likely benign | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001830854 | SCV002079892 | likely benign | Pontocerebellar hypoplasia type 6 | 2020-11-24 | no assertion criteria provided | clinical testing |