Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000249513 | SCV000317482 | likely benign | Cardiovascular phenotype | 2013-04-04 | 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. |
Labcorp Genetics |
RCV000560527 | SCV000642884 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001699276 | SCV001988668 | uncertain significance | not provided | 2019-04-15 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001699276 | SCV003822320 | uncertain significance | not provided | 2020-12-28 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001699276 | SCV001920964 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV001699276 | SCV001963314 | uncertain significance | not provided | no assertion criteria provided | clinical testing |