Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156753 | SCV000206474 | likely benign | not specified | 2014-08-26 | criteria provided, single submitter | clinical testing | 345-5C>T in intron 5 of LDB3: This variant is not expected to have clinical sign ificance because a C>T change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing. |
Invitae | RCV003764981 | SCV004654050 | likely benign | Myofibrillar myopathy 4 | 2023-11-12 | criteria provided, single submitter | clinical testing |