Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179396 | SCV000231638 | benign | not specified | 2015-05-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000884845 | SCV001028247 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000884845 | SCV001796920 | likely benign | not provided | 2021-08-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955081 | SCV004773375 | likely benign | COL9A3-related condition | 2021-07-12 | 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). |