Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000416082 | SCV000493337 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | KMT2A: BP4, BP7 |
Invitae | RCV000416082 | SCV002411107 | benign | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957890 | SCV004773943 | likely benign | KMT2A-related disorder | 2019-07-17 | 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). |