Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000610119 | SCV000714464 | likely benign | not specified | 2017-08-14 | 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 | RCV000955895 | SCV001102631 | benign | Methylcobalamin deficiency type cblG | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003420055 | SCV004126190 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | MTR: BP4, BP7 |