Submissions for variant NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202847	SCV000257689	uncertain significance	Hypercholesterolemia, familial, 1	2015-07-10	criteria provided, single submitter	clinical testing
Invitae	RCV001837757	SCV000284779	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000250646	SCV000303955	benign	not specified		criteria provided, single submitter	clinical testing
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000202847	SCV000322851	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research	2/96 normolipidaemic Portuguese controls
Illumina Laboratory Services, Illumina	RCV001094730	SCV000426993	likely benign	Hypercholesterolemia, autosomal dominant, type B	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). 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.
Robarts Research Institute, Western University	RCV000202847	SCV000484821	likely benign	Hypercholesterolemia, familial, 1	2019-08-22	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000250646	SCV000538308	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: ExAC: 1.6% (165/10404) African chromosomes
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000202847	SCV000588447	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Color Diagnostics, LLC DBA Color Health	RCV000202847	SCV000687277	likely benign	Hypercholesterolemia, familial, 1	2017-07-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000229381	SCV000730565	benign	not provided	2019-04-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29172679, 24234650, 26332594, 27153395, 23043354, 27884173, 20657596)
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000229381	SCV001133432	benign	not provided	2023-08-02	criteria provided, single submitter	clinical testing
Mendelics	RCV000202847	SCV001135623	benign	Hypercholesterolemia, familial, 1	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000229381	SCV002498527	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	APOB: BP4, BS1, BS2
Ambry Genetics	RCV002381697	SCV002695725	benign	Cardiovascular phenotype	2016-02-26	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000229381	SCV004564018	likely benign	not provided	2023-10-27	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000250646	SCV001919198	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000250646	SCV001962772	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000771076	SCV003836797	likely benign	Familial hypercholesterolemia	2023-02-09	no assertion criteria provided	clinical testing