Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474656 | SCV000542868 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-04-04 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170387 | SCV001332964 | likely benign | Cardiomyopathy | 2018-06-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437205 | SCV004152445 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Prevention |
RCV003902636 | SCV004725099 | likely benign | TTN-related condition | 2023-01-20 | 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). |