Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000605580 | SCV000722372 | likely benign | not specified | 2017-09-12 | 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 | RCV000904712 | SCV001049248 | benign | not provided | 2018-07-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001513643 | SCV001721296 | benign | Methylmalonic acidemia with homocystinuria, type cblX | 2021-06-18 | criteria provided, single submitter | clinical testing |