Submissions for variant NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224150	SCV000281061	likely benign	not provided	2017-08-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001837463	SCV000284752	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000443322	SCV000521117	benign	not specified	2016-11-25	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 of Genetics and Molecular Cardiology, University of São Paulo	RCV000157118	SCV000588450	likely benign	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Fundacion Hipercolesterolemia Familiar	RCV000157118	SCV000607382	likely benign	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Color Diagnostics, LLC DBA Color Health	RCV000157118	SCV000687188	likely benign	Hypercholesterolemia, familial, 1	2017-06-27	criteria provided, single submitter	clinical testing
Robarts Research Institute, Western University	RCV000157118	SCV000782786	benign	Hypercholesterolemia, familial, 1	2018-01-02	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000224150	SCV001133382	benign	not provided	2023-06-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001137197	SCV001297112	likely benign	Hypercholesterolemia, autosomal dominant, type B	2018-01-29	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.
CeGaT Center for Human Genetics Tuebingen	RCV000224150	SCV002544002	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	APOB: BP4, BS1, BS2
Ambry Genetics	RCV002381506	SCV002691857	benign	Cardiovascular phenotype	2016-01-04	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000224150	SCV003799738	benign	not provided	2023-09-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000224150	SCV005262626	likely benign	not provided		criteria provided, single submitter	not provided
Blueprint Genetics	RCV000157118	SCV000206841	likely benign	Hypercholesterolemia, familial, 1	2014-12-02	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000443322	SCV001921336	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000224150	SCV001962750	likely benign	not provided		no assertion criteria provided	clinical testing