Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659935 | SCV000781839 | likely benign | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000908846 | SCV001053627 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-04-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983160 | SCV004797222 | likely benign | MYLK-related condition | 2022-07-14 | 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). |