Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723582 | SCV000113432 | uncertain significance | not provided | 2013-02-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081501 | SCV000515717 | likely benign | not specified | 2016-02-09 | 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 | RCV001080963 | SCV001004919 | likely benign | Developmental and epileptic encephalopathy, 12 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000723582 | SCV004183688 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | PNKP: BP4 |