Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000556350 | SCV000642605 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-09-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618771 | SCV000735326 | likely benign | Cardiovascular phenotype | 2016-02-24 | 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. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV005404650 | SCV006066839 | benign | not specified | 2025-04-09 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV005404650 | SCV006072396 | likely benign | not specified | 2025-03-06 | criteria provided, single submitter | clinical testing |