Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649260 | SCV000771085 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001546668 | SCV001766223 | likely benign | not provided | 2020-11-13 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003479186 | SCV004223184 | benign | not specified | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892472 | SCV004714213 | likely benign | FLNC-related disorder | 2020-10-02 | 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). |