Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001438554 | SCV001641431 | likely benign | Treacher Collins syndrome 1 | 2020-07-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957935 | SCV004773024 | likely benign | TCOF1-related condition | 2020-02-14 | 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). |