Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000902108 | SCV001046511 | likely benign | not provided | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000902108 | SCV001862479 | benign | not provided | 2020-10-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975742 | SCV004788130 | likely benign | KMT2A-related disorder | 2024-02-08 | 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). |