Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000238708 | SCV000297118 | uncertain significance | not specified | 2015-11-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000880797 | SCV000524477 | likely benign | not provided | 2020-09-21 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000238708 | SCV000595532 | uncertain significance | not specified | 2015-09-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000880797 | SCV001023919 | likely benign | not provided | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003967679 | SCV004787927 | likely benign | LAMB1-related condition | 2019-07-31 | 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). |