Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV001256880 | SCV001433376 | benign | not specified | 2019-09-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001407764 | SCV001609743 | likely benign | Duchenne muscular dystrophy | 2024-05-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002357061 | SCV002659871 | likely benign | Cardiovascular phenotype | 2022-04-09 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001256880 | SCV004038114 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001529076 | SCV001741921 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001529076 | SCV001930609 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001830059 | SCV002091044 | likely benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2018-11-06 | no assertion criteria provided | clinical testing |