Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000904410 | SCV001048925 | benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000904410 | SCV001863201 | benign | not provided | 2020-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000904410 | SCV002821667 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | KMT2A: BP4, BP7, BS1 |
Prevention |
RCV003923038 | SCV004740380 | benign | KMT2A-related disorder | 2019-04-01 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |