Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593807 | SCV000701052 | uncertain significance | not provided | 2016-12-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001460979 | SCV001664863 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002413670 | SCV002673057 | likely benign | Cardiovascular phenotype | 2019-11-06 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003150291 | SCV003837947 | likely benign | Cardiomyopathy | 2021-11-30 | criteria provided, single submitter | clinical testing |