Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001521713 | SCV001731104 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001521713 | SCV004150148 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | NFE2L2: BP4, BS2 |
Prevention |
RCV003935166 | SCV004756227 | benign | NFE2L2-related condition | 2019-11-05 | 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 | RCV000121656 | SCV000085854 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |