Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000474283 | SCV000554427 | likely benign | Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002255400 | SCV002529426 | likely benign | Hereditary cancer-predisposing syndrome | 2020-11-16 | criteria provided, single submitter | curation | |
Prevention |
RCV003899937 | SCV004717390 | likely benign | GATA2-related disorder | 2022-09-09 | 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). |