Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470905 | SCV000546500 | likely benign | Familial aplasia of the vermis | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533179 | SCV004717504 | likely benign | TMEM216-related disorder | 2021-03-17 | 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). |
Natera, |
RCV001828464 | SCV002091651 | likely benign | Joubert syndrome 2 | 2020-09-16 | no assertion criteria provided | clinical testing |