Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000897923 | SCV001042099 | benign | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000897923 | SCV004698664 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | KMT2A: BP4 |
Prevention |
RCV003910701 | SCV004726504 | likely benign | KMT2A-related disorder | 2023-06-08 | 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). |