Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593653 | SCV000708201 | uncertain significance | not provided | 2017-05-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001418586 | SCV001620817 | likely benign | Cholestanol storage disease | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377237 | SCV002685498 | likely benign | Cardiovascular phenotype | 2020-12-26 | 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. |