Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003423281 | SCV004146519 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | FBN3: BP4, BS2 |
Prevention |
RCV003929098 | SCV004745115 | benign | FBN3-related disorder | 2019-07-19 | 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). |