Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UF de Génétique Moléculaire, |
RCV000157617 | SCV000115327 | pathogenic | TCF12-related craniosynostosis | 2013-09-02 | criteria provided, single submitter | research | |
Baylor Genetics | RCV000157617 | SCV001522388 | likely pathogenic | TCF12-related craniosynostosis | 2019-07-19 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |