Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000894699 | SCV001038701 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000894699 | SCV001868256 | benign | not provided | 2020-01-13 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001818698 | SCV002071068 | likely benign | not specified | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000894699 | SCV004129381 | likely benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | KMT2A: BP4, BS1 |
Prevention |
RCV003950444 | SCV004769851 | benign | KMT2A-related disorder | 2020-03-06 | 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). |