Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595739 | SCV000706390 | uncertain significance | not provided | 2017-02-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078847 | SCV001124805 | likely benign | Cholestanol storage disease | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003302916 | SCV003998881 | likely benign | Cardiovascular phenotype | 2023-06-05 | 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. |
Prevention |
RCV003900335 | SCV004713542 | likely benign | CYP27A1-related condition | 2021-05-10 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001078847 | SCV001462713 | likely benign | Cholestanol storage disease | 2020-06-04 | no assertion criteria provided | clinical testing |