Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000872417 | SCV001014225 | benign | not provided | 2018-12-05 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000872417 | SCV001144235 | benign | not provided | 2018-11-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002487917 | SCV002804182 | likely benign | Facial paresis, hereditary congenital, 3 | 2022-04-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955687 | SCV004775490 | benign | HOXB1-related disorder | 2020-02-05 | 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). |