Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000905301 | SCV001049880 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000905301 | SCV001794924 | likely benign | not provided | 2022-07-25 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ce |
RCV000905301 | SCV004129428 | likely benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | KMT2A: BP4, BS1 |
Prevention |
RCV003923058 | SCV004741801 | likely benign | KMT2A-related disorder | 2024-01-05 | 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). |