Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001447431 | SCV001650496 | likely benign | Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 | 2023-05-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150431 | SCV003837809 | likely benign | Cardiomyopathy | 2021-11-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900536 | SCV004709831 | likely benign | NEXN-related condition | 2021-03-19 | 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). |