Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000885830 | SCV001029302 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000885830 | SCV004146524 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | FBN3: BP4, BS2 |
Prevention |
RCV003940535 | SCV004748922 | benign | FBN3-related disorder | 2019-03-06 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |