Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV004573426 | SCV005051645 | benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | MYCBP2: BP4, BS1, BS2 |
Prevention |
RCV003914483 | SCV004731173 | likely benign | MYCBP2-related disorder | 2022-05-10 | no assertion criteria provided | 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). |