Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001838066 | SCV000777089 | benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325328 | SCV002608607 | likely benign | Cardiovascular phenotype | 2016-12-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
GENin |
RCV004584791 | SCV005074064 | benign | Familial hypercholesterolemia | 2022-06-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004544913 | SCV004762261 | likely benign | APOB-related disorder | 2020-02-19 | no assertion criteria provided | 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). |