Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000925618 | SCV001071163 | likely benign | Cholestanol storage disease | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354774 | SCV002621494 | likely benign | Cardiovascular phenotype | 2020-08-07 | 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. |
Natera, |
RCV000925618 | SCV002078764 | likely benign | Cholestanol storage disease | 2021-04-21 | no assertion criteria provided | clinical testing |