Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001474179 | SCV001678347 | likely benign | not provided | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001474179 | SCV001789305 | uncertain significance | not provided | 2021-11-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Acke et al., 2014; Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV004533828 | SCV004727184 | likely benign | COL11A1-related disorder | 2024-02-02 | 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). |