Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000873056 | SCV001014983 | likely benign | Treacher Collins syndrome 1 | 2023-10-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908291 | SCV004722166 | likely benign | TCOF1-related condition | 2019-06-17 | 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). |