Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000633646 | SCV000754898 | likely benign | Congenital contractural arachnodactyly | 2023-08-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330851 | SCV004038938 | likely benign | not specified | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892432 | SCV004710529 | likely benign | FBN2-related condition | 2022-01-12 | 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). |