Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002130023 | SCV002411776 | benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002130023 | SCV004146514 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | FBN3: BS2 |
Prevention |
RCV003923677 | SCV004740690 | benign | FBN3-related disorder | 2019-03-14 | 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). |