Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594516 | SCV000703500 | uncertain significance | not provided | 2016-12-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001391687 | SCV001593311 | likely benign | Dilated cardiomyopathy 1JJ | 2021-11-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002324047 | SCV002609045 | likely benign | Cardiovascular phenotype | 2020-11-24 | 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. |