Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038727 | SCV000062405 | likely benign | not specified | 2012-07-31 | criteria provided, single submitter | clinical testing | Leu48Leu in exon 02 of LDB3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Leu48Leu in exon 02 of LDB3 (allele frequency= n/a) |
Gene |
RCV000038727 | SCV000534472 | likely benign | not specified | 2016-12-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001496582 | SCV001701282 | likely benign | Myofibrillar myopathy 4 | 2018-03-31 | criteria provided, single submitter | clinical testing |