Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868358 | SCV001009675 | benign | Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938285 | SCV004748927 | likely benign | GATA1-related condition | 2019-06-06 | 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). |