Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215057 | SCV000270352 | likely benign | not specified | 2015-06-11 | criteria provided, single submitter | clinical testing | p.Ala389Ala in exon 11 of LDB3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (25/16416) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs768844187). |
Invitae | RCV000231879 | SCV000289614 | benign | Myofibrillar myopathy 4 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001571800 | SCV001796334 | likely benign | not provided | 2020-03-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002327078 | SCV002632756 | likely benign | Cardiovascular phenotype | 2020-04-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Prevention |
RCV003937828 | SCV004748772 | likely benign | LDB3-related disorder | 2019-06-05 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Cytogenetics- |
RCV001293334 | SCV001481922 | uncertain significance | Dilated cardiomyopathy 1C | 2014-12-15 | no assertion criteria provided | case-control |