Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000287149 | SCV000332376 | uncertain significance | not provided | 2015-06-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000287149 | SCV001059794 | likely benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000287149 | SCV001803803 | likely benign | not provided | 2020-09-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955432 | SCV004766576 | likely benign | COL2A1-related condition | 2019-08-01 | 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). |