Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001837926 | SCV000554826 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000612623 | SCV000723753 | likely benign | not specified | 2017-10-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ce |
RCV000461001 | SCV001152149 | uncertain significance | not provided | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002341063 | SCV002636855 | likely benign | Cardiovascular phenotype | 2018-09-28 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000461001 | SCV004218652 | likely benign | not provided | 2022-11-23 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000461001 | SCV004564033 | likely benign | not provided | 2023-11-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004539966 | SCV004784841 | likely benign | APOB-related disorder | 2021-04-07 | 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). |
Diagnostic Laboratory, |
RCV000461001 | SCV001741730 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000612623 | SCV001925838 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000461001 | SCV001974111 | likely benign | not provided | no assertion criteria provided | clinical testing |