Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038771 | SCV000062449 | likely benign | not specified | 2012-10-17 | criteria provided, single submitter | clinical testing | Asp289Asp in exon 8 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. Asp289Asp in exon 8 of LDB3 (allele frequency = n/a) |
Invitae | RCV000862068 | SCV001002507 | benign | Myofibrillar myopathy 4 | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444487 | SCV002683366 | likely benign | Cardiovascular phenotype | 2022-08-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Genome Diagnostics Laboratory, |
RCV001701581 | SCV001933027 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001701581 | SCV001966624 | likely benign | not provided | no assertion criteria provided | clinical testing |