Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000952195 | SCV001098678 | likely benign | Treacher Collins syndrome 1 | 2023-07-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001544922 | SCV001764147 | likely benign | not provided | 2021-06-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925953 | SCV004741151 | likely benign | TCOF1-related condition | 2023-03-06 | 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). |