Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000551178 | SCV000643321 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-07-08 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811051 | SCV002048792 | likely benign | not provided | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002431627 | SCV002742008 | likely benign | Cardiovascular phenotype | 2022-04-19 | 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. |