Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000796512 | SCV000936030 | likely benign | Joubert syndrome 16 | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908096 | SCV004720374 | likely benign | TMEM138-related condition | 2019-06-12 | 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). |