Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038766 | SCV000062444 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | c.689+15T>C in Intron 04 of LDB3: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1/7014 European American chromosomes from a broad populat ion by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;). |
Invitae | RCV002054715 | SCV002397299 | likely benign | Myofibrillar myopathy 4 | 2024-01-30 | criteria provided, single submitter | clinical testing |