Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000396852 | SCV000339706 | uncertain significance | not provided | 2017-07-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078696 | SCV001028439 | likely benign | Cholestanol storage disease | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356386 | SCV002656323 | likely benign | Cardiovascular phenotype | 2019-07-17 | 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 |
RCV003897621 | SCV004716547 | likely benign | CYP27A1-related condition | 2021-06-23 | 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). |