Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734413 | SCV000862554 | uncertain significance | not provided | 2018-07-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001490273 | SCV001694834 | likely benign | Cholestanol storage disease | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002397517 | SCV002709977 | likely benign | Cardiovascular phenotype | 2022-07-10 | 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 |
RCV003892673 | SCV004716822 | likely benign | CYP27A1-related condition | 2021-03-11 | 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). |