Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003626643 | SCV001021752 | likely benign | Anophthalmia/microphthalmia-esophageal atresia syndrome | 2017-06-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004549999 | SCV004713141 | likely benign | SOX2-related disorder | 2021-05-12 | 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). |