Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003786441 | SCV004570577 | likely benign | Microphthalmia with brain and digit anomalies; Orofacial cleft 11 | 2023-05-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003893391 | SCV004708955 | likely benign | BMP4-related disorder | 2021-05-11 | 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). |