Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001410940 | SCV001612996 | likely benign | Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 | 2022-12-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003532319 | SCV004362739 | likely benign | Cardiomyopathy | 2022-05-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003978071 | SCV004798025 | likely benign | ACTC1-related condition | 2023-02-18 | 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). |