Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000863007 | SCV001003595 | benign | Telangiectasia, hereditary hemorrhagic, type 2 | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908186 | SCV004727495 | likely benign | ACVRL1-related condition | 2019-07-30 | 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). |