Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556035 | SCV000626739 | likely benign | Glycogen storage disease type III | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001591194 | SCV001814288 | uncertain significance | not provided | 2023-03-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV000556035 | SCV002055548 | likely benign | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001591194 | SCV004227877 | uncertain significance | not provided | 2023-02-16 | criteria provided, single submitter | clinical testing | BS1, PP3 |
Prevention |
RCV003905330 | SCV004722628 | likely benign | AGL-related condition | 2019-08-12 | 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). |