Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000971823 | SCV001119492 | benign | not provided | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000971823 | SCV004146510 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | FBN3: BP4, BP7 |
Prevention |
RCV003936133 | SCV004750489 | likely benign | FBN3-related disorder | 2019-07-02 | 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). |