Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502742 | SCV000595529 | uncertain significance | not specified | 2017-02-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000881280 | SCV001024438 | likely benign | not provided | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000881280 | SCV001782794 | likely benign | not provided | 2021-03-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003979891 | SCV004792035 | likely benign | LAMB1-related disorder | 2020-07-14 | 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). |