Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228155 | SCV000288926 | benign | Aortic valve disease 2 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003937907 | SCV004747756 | benign | SMAD6-related condition | 2019-07-03 | 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). |