Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000930961 | SCV001151655 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | LDLR: BP4, BP7 |
Color Diagnostics, |
RCV001189126 | SCV001356337 | likely benign | Familial hypercholesterolemia | 2019-09-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001189126 | SCV001625070 | likely benign | Familial hypercholesterolemia | 2022-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390944 | SCV002697463 | likely benign | Cardiovascular phenotype | 2020-12-10 | 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 |
RCV003970570 | SCV004787257 | likely benign | LDLR-related condition | 2019-04-30 | 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). |