Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000762123 | SCV000892381 | uncertain significance | not provided | 2018-04-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001301590 | SCV001490765 | likely benign | Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000762123 | SCV001766248 | uncertain significance | not provided | 2021-06-10 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; In addition, in silico splice predictors suggest this variant may lead to abnormal gene splicing; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533) |
Fulgent Genetics, |
RCV002507334 | SCV002816904 | uncertain significance | Adult polyglucosan body disease; Glycogen storage disease, type IV | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938148 | SCV004765921 | likely benign | GBE1-related condition | 2023-03-22 | 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, |
RCV001825509 | SCV002082373 | uncertain significance | Glycogen storage disease, type IV | 2019-10-28 | no assertion criteria provided | clinical testing |