Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001731422 | SCV001983301 | likely benign | not provided | 2021-03-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004537574 | SCV004720747 | likely benign | GABRG2-related disorder | 2019-03-21 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Gene |
RCV000187512 | SCV000241106 | benign | not specified | 2013-07-24 | flagged submission | clinical testing | The variant is found in INFANT-EPI panel(s). |