Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861229 | SCV001001486 | benign | Oculofaciocardiodental syndrome | 2023-01-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437446 | SCV004164838 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | BCOR: BP4, BP7, BS2 |
Prevention |
RCV003965635 | SCV004776686 | likely benign | BCOR-related condition | 2021-02-03 | 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). |