Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000960900 | SCV001107929 | benign | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965021 | SCV004777243 | benign | KMT2C-related condition | 2019-02-20 | 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). |
ITMI | RCV000121506 | SCV000085700 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |