Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000223025 | SCV000270131 | likely benign | not specified | 2015-07-28 | criteria provided, single submitter | clinical testing | p.Thr2532Thr in exon 52 of DMD: 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 20/47999 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs778412539). |
Invitae | RCV000525033 | SCV000625958 | benign | Duchenne muscular dystrophy | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390571 | SCV002674317 | likely benign | Cardiovascular phenotype | 2019-06-20 | 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. |
Natera, |
RCV001828061 | SCV002087747 | likely benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2019-07-02 | no assertion criteria provided | clinical testing |