Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000914393 | SCV001059567 | likely benign | not provided | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000914393 | SCV001745555 | benign | not provided | 2019-08-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003913045 | SCV004728516 | likely benign | KMT2A-related disorder | 2020-02-03 | 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). |