Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000899000 | SCV001043241 | likely benign | 3-methylglutaconic aciduria, type VIIB | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001655643 | SCV001871073 | uncertain significance | not provided | 2021-07-16 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533) |
Prevention |
RCV003968220 | SCV004790612 | likely benign | CLPB-related condition | 2019-04-01 | 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). |