Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000882063 | SCV001025281 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000882063 | SCV004146500 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | FBN3: BS2 |
Prevention |
RCV003975543 | SCV004789917 | benign | FBN3-related disorder | 2019-03-04 | 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). |