Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000643747 | SCV000765434 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-03-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002422319 | SCV002725787 | likely benign | Cardiovascular phenotype | 2022-09-05 | 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. |
Diagnostic Laboratory, |
RCV001528485 | SCV001740307 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001701144 | SCV001924781 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001528485 | SCV001973244 | likely benign | not provided | no assertion criteria provided | clinical testing |