Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000948877 | SCV001095104 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000948877 | SCV001835466 | benign | not provided | 2019-09-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925899 | SCV004743889 | likely benign | KMT2A-related disorder | 2019-09-25 | 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). |