Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000960309 | SCV001107274 | benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000960309 | SCV004146515 | benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | FBN3: BS1, BS2 |
Prevention |
RCV003926123 | SCV004739069 | likely benign | FBN3-related disorder | 2019-02-27 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |