Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000863425 | SCV001004079 | likely benign | Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918351 | SCV004730742 | likely benign | MPL-related condition | 2019-05-02 | 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). |
Natera, |
RCV001275185 | SCV001460038 | likely benign | Congenital amegakaryocytic thrombocytopenia | 2020-04-30 | no assertion criteria provided | clinical testing |