Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000248497 | SCV000304427 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000653737 | SCV000775627 | benign | TWIST1-related craniosynostosis; Saethre-Chotzen syndrome | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001723838 | SCV001950531 | benign | not provided | 2020-03-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24166674, 15253176, 11748846, 24706433, 17343269, 16838304, 15880747) |