Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001412539 | SCV001614625 | likely benign | Congenital contractural arachnodactyly | 2022-02-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900416 | SCV004716901 | likely benign | FBN2-related condition | 2024-02-14 | 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). |