Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231238 | SCV000286817 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-02-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002327125 | SCV002629877 | likely benign | Cardiovascular phenotype | 2020-04-17 | 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. |
Revvity Omics, |
RCV003137845 | SCV003821080 | uncertain significance | not provided | 2019-02-27 | criteria provided, single submitter | clinical testing |