Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000540170 | SCV000643638 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-09-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001572517 | SCV001797175 | likely benign | not provided | 2019-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002341347 | SCV002636569 | likely benign | Cardiovascular phenotype | 2020-09-16 | 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. |