Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000600688 | SCV000721401 | likely benign | not specified | 2017-08-10 | 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 | RCV001273178 | SCV001595769 | likely benign | Propionic acidemia | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003411452 | SCV004135098 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | PCCA: BP4, BP7 |
Natera, |
RCV001273178 | SCV001455845 | likely benign | Propionic acidemia | 2020-09-16 | no assertion criteria provided | clinical testing |