Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000912040 | SCV001057125 | benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000912040 | SCV004146513 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | FBN3: BP4, BP7 |
Prevention |
RCV003923174 | SCV004743180 | benign | FBN3-related disorder | 2019-03-04 | 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). |