Total submissions: 19
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001837771 | SCV000284761 | benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000239033 | SCV000296913 | benign | Hypercholesterolemia, familial, 1 | 2015-10-18 | criteria provided, single submitter | clinical testing | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000239033 | SCV000588465 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Fundacion Hipercolesterolemia Familiar | RCV000239033 | SCV000607388 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Color Diagnostics, |
RCV000239033 | SCV000687202 | likely benign | Hypercholesterolemia, familial, 1 | 2017-06-27 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000597586 | SCV000705583 | benign | not specified | 2017-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000758756 | SCV000730071 | likely benign | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26415676, 27153395) |
Robarts Research Institute, |
RCV000239033 | SCV000782810 | likely benign | Hypercholesterolemia, familial, 1 | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758756 | SCV000887571 | benign | not provided | 2022-05-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000758756 | SCV001152104 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | APOB: BP4, BS2 |
Illumina Laboratory Services, |
RCV001136763 | SCV001296626 | benign | Hypercholesterolemia, autosomal dominant, type B | 2017-07-11 | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV001136764 | SCV001296627 | uncertain significance | Familial hypobetalipoproteinemia 1 | 2017-04-27 | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
ARUP Laboratories, |
RCV000758756 | SCV002505980 | likely benign | not provided | 2023-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002378975 | SCV002690914 | benign | Cardiovascular phenotype | 2016-06-22 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 |
RCV000771078 | SCV005074072 | benign | Familial hypercholesterolemia | 2022-09-26 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000597586 | SCV001739758 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000597586 | SCV001918784 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000597586 | SCV001973997 | benign | not specified | no assertion criteria provided | clinical testing | ||
Cohesion Phenomics | RCV000771078 | SCV003836792 | benign | Familial hypercholesterolemia | 2023-02-09 | no assertion criteria provided | clinical testing |