Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000968757 | SCV001116229 | benign | not provided | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003962850 | SCV004779974 | likely benign | FBN3-related disorder | 2019-03-22 | 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). |