Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504360 | SCV000595527 | likely benign | not specified | 2016-05-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000838647 | SCV000980523 | likely benign | not provided | 2021-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000838647 | SCV001037553 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000838647 | SCV002062779 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | LAMB1: BP4, BP7 |
Prevention |
RCV003902781 | SCV004722569 | likely benign | LAMB1-related condition | 2023-12-20 | 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). |