Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001437117 | SCV001639964 | likely benign | Myofibrillar myopathy 4 | 2023-06-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001779218 | SCV002015385 | likely benign | not provided | 2021-05-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920940 | SCV004730629 | likely benign | LDB3-related disorder | 2019-05-07 | 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). |