Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000945685 | SCV001091726 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001818926 | SCV002067681 | benign | not specified | 2018-12-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000945685 | SCV004128646 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | DEAF1: BP4, BP7, BS2 |
Prevention |
RCV004543541 | SCV004784907 | benign | DEAF1-related disorder | 2020-01-13 | 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). |