Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000842129 | SCV000984125 | likely benign | not provided | 2018-05-01 | 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 | RCV001277401 | SCV001647435 | likely benign | Glycogen storage disease, type VII | 2023-12-17 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001277401 | SCV004562571 | likely benign | Glycogen storage disease, type VII | 2023-09-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948035 | SCV004757964 | likely benign | PFKM-related condition | 2021-10-05 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001277401 | SCV001464350 | likely benign | Glycogen storage disease, type VII | 2020-11-14 | no assertion criteria provided | clinical testing |