Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
National Health Laboratory Service, |
RCV002225371 | SCV002504985 | likely benign | Hereditary breast ovarian cancer syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925175 | SCV004740529 | benign | CDK12-related condition | 2019-04-04 | 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 | RCV000120519 | SCV000084672 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |