Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000202719 | SCV000257677 | benign | Hypercholesterolemia, familial, 1 | 2015-06-25 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000116385 | SCV000303935 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Cardiovascular Research Group, |
RCV000202719 | SCV000322836 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Illumina Laboratory Services, |
RCV001094740 | SCV000427142 | likely benign | Hypercholesterolemia, autosomal dominant, type B | 2018-01-19 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV001837456 | SCV000554836 | benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV000578002 | SCV000679804 | likely benign | Familial hypobetalipoproteinemia 1 | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000116385 | SCV000729919 | benign | not specified | 2017-03-09 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759455 | SCV000888782 | benign | not provided | 2022-08-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771065 | SCV000902577 | benign | Familial hypercholesterolemia | 2017-06-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000759455 | SCV002048356 | benign | not provided | 2023-11-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426658 | SCV002728559 | benign | Cardiovascular phenotype | 2016-01-12 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Genetic Services Laboratory, |
RCV000116385 | SCV000150309 | uncertain significance | not specified | 2014-08-22 | flagged submission | clinical testing | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000202719 | SCV000588421 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-01 | flagged submission | research | |
Clinical Genetics, |
RCV000116385 | SCV001918921 | benign | not specified | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000116385 | SCV001962827 | benign | not specified | no assertion criteria provided | clinical testing | ||
Cohesion Phenomics | RCV000771065 | SCV003836795 | likely benign | Familial hypercholesterolemia | 2023-02-09 | no assertion criteria provided | clinical testing |