Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000967551 | SCV001114940 | likely benign | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960788 | SCV004772182 | likely benign | DNMT3B-related disorder | 2019-12-18 | 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). |