Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088975 | SCV001018645 | likely benign | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000876120 | SCV001153954 | uncertain significance | not provided | 2017-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000876120 | SCV001825024 | uncertain significance | not provided | 2021-03-01 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003908327 | SCV004721952 | likely benign | LAMB2-related condition | 2023-02-16 | 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). |