Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000428699 | SCV000530556 | likely benign | not specified | 2018-03-01 | 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 | RCV001275778 | SCV001611532 | likely benign | Glycogen storage disease, type V | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000428699 | SCV002570791 | likely benign | not specified | 2022-07-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003886396 | SCV004704161 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | PYGM: BP4, BP7 |
Natera, |
RCV001275778 | SCV001461289 | likely benign | Glycogen storage disease, type V | 2020-09-16 | no assertion criteria provided | clinical testing |