Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192718 | SCV000247815 | uncertain significance | not specified | 2015-04-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000900377 | SCV000726479 | likely benign | not provided | 2021-06-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000900377 | SCV001044694 | likely benign | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003967499 | SCV004785742 | likely benign | LAMB1-related condition | 2024-01-17 | 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). |