Submissions for variant NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202840	SCV000257683	benign	Hypercholesterolemia, familial, 1	2015-02-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000248443	SCV000303943	benign	not specified		criteria provided, single submitter	clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000202840	SCV000322845	likely benign	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research	2/101 non-FH individuals
Illumina Laboratory Services, Illumina	RCV001094735	SCV000427065	likely benign	Hypercholesterolemia, autosomal dominant, type B	2018-02-09	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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000248443	SCV000521122	benign	not specified	2016-11-21	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000248443	SCV000538317	likely benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 34/2178=1.5%
Labcorp Genetics (formerly Invitae), Labcorp	RCV001837753	SCV000554804	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-02-01	criteria provided, single submitter	clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000202840	SCV000588438	likely benign	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Color Diagnostics, LLC DBA Color Health	RCV000202840	SCV000687249	benign	Hypercholesterolemia, familial, 1	2017-06-27	criteria provided, single submitter	clinical testing
Robarts Research Institute, Western University	RCV000202840	SCV000782866	benign	Hypercholesterolemia, familial, 1	2018-01-02	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759461	SCV000888788	benign	not provided	2022-07-22	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000759461	SCV000987667	benign	not provided		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345724	SCV002648529	benign	Cardiovascular phenotype	2015-12-21	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.
GENinCode PLC	RCV004584629	SCV005074056	benign	Familial hypercholesterolemia	2022-06-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000759461	SCV005262635	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000248443	SCV001922840	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000248443	SCV001962809	benign	not specified		no assertion criteria provided	clinical testing