Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003034099 | SCV003326701 | likely benign | Microphthalmia with brain and digit anomalies; Orofacial cleft 11 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953821 | SCV004772677 | likely benign | BMP4-related disorder | 2019-07-09 | 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). |