Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000917618 | SCV001062903 | likely benign | Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections | 2023-07-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895577 | SCV004716439 | likely benign | GATA2-related condition | 2024-02-21 | 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). |