Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036843 | SCV000060498 | likely benign | not specified | 2013-01-23 | criteria provided, single submitter | clinical testing | 345-15G>T in intron 5 of LDB3: This variant is not expected to have clinical sig nificance because it is not predicted to impact splicing and another variant at this position (345-15G>A) is common in the general population. 345-15G>T in int ron 5 of LDB3 (allele frequency = n/a) |
Invitae | RCV003611494 | SCV004511197 | likely benign | Myofibrillar myopathy 4 | 2023-03-24 | criteria provided, single submitter | clinical testing |