Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000880769 | SCV001023891 | benign | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000880769 | SCV004146516 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | FBN3: BP4, BP7, BS2 |
Prevention |
RCV003920518 | SCV004737064 | benign | FBN3-related disorder | 2019-02-19 | 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). |