Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868773 | SCV001010143 | likely benign | Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003442127 | SCV004169180 | uncertain significance | not provided | 2023-04-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Natera, |
RCV001272211 | SCV001453970 | likely benign | Congenital amegakaryocytic thrombocytopenia | 2020-09-16 | no assertion criteria provided | clinical testing |