Submissions for variant NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000327915	SCV000427160	likely benign	Familial hypobetalipoproteinemia 1	2019-05-14	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.
Illumina Laboratory Services, Illumina	RCV001094745	SCV000427161	likely benign	Hypercholesterolemia, autosomal dominant, type B	2019-05-14	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454476	SCV000538313	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: 2.7% (279/10394) African chromosomes
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000368629	SCV000588416	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Invitae	RCV001837878	SCV000659260	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000758753	SCV000730572	benign	not provided	2018-08-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20592474, 29540175)
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000758753	SCV000887567	benign	not provided	2022-08-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002365401	SCV002660730	benign	Cardiovascular phenotype	2017-08-24	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	RCV000758753	SCV004563986	benign	not provided	2023-10-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000758753	SCV004699623	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	APOB: BP4, BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000454476	SCV001919997	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000758753	SCV001962825	likely benign	not provided		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000776082	SCV003836794	likely benign	Familial hypercholesterolemia	2023-02-09	no assertion criteria provided	clinical testing