Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177399 | SCV000229251 | uncertain significance | not provided | 2017-12-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079082 | SCV000286475 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170881 | SCV001333503 | likely benign | Cardiomyopathy | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408768 | SCV002723474 | likely benign | Cardiovascular phenotype | 2019-06-24 | 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. |