Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002055364 | SCV002428581 | benign | not provided | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002055364 | SCV004157030 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | KMT2C: BP4 |
Prevention |
RCV003925199 | SCV004738945 | likely benign | KMT2C-related condition | 2022-02-14 | 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). |
ITMI | RCV000121485 | SCV000085679 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |