Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001417009 | SCV001619202 | likely benign | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2020-11-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001417009 | SCV002799010 | likely benign | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2022-05-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003967937 | SCV004777409 | likely benign | LAMB2-related condition | 2020-09-23 | 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). |