Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000123623 | SCV000166962 | benign | not specified | 2013-07-24 | 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. |
Eurofins Ntd Llc |
RCV000725403 | SCV000336710 | uncertain significance | not provided | 2015-11-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000123623 | SCV000612312 | likely benign | not specified | 2017-03-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088015 | SCV000640309 | likely benign | Pyridoxine-dependent epilepsy | 2024-01-28 | criteria provided, single submitter | clinical testing |