Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731182 | SCV000858961 | uncertain significance | not provided | 2018-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000731182 | SCV000968558 | likely benign | not provided | 2018-05-08 | 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 | RCV002535196 | SCV003311736 | likely benign | Pyridoxine-dependent epilepsy | 2023-10-06 | criteria provided, single submitter | clinical testing |