Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000960651 | SCV001107659 | likely benign | Treacher Collins syndrome 1 | 2022-10-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001655651 | SCV001865682 | benign | not provided | 2020-05-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003916027 | SCV004745306 | likely benign | TCOF1-related condition | 2022-01-22 | 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). |