Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001545509 | SCV001764851 | likely benign | not provided | 2020-02-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001545509 | SCV004538248 | benign | not provided | 2023-05-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004541989 | SCV004775552 | likely benign | COL11A1-related disorder | 2020-02-19 | 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). |