Submissions for variant NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)

dbSNP: rs541497967

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute for Integrative and Experimental Genomics, University of Luebeck	RCV000157119	SCV000212147	likely benign	Hypercholesterolemia, familial, 1		criteria provided, single submitter	research
GeneDx	RCV000471850	SCV000233314	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27153395, 9050776, 24234650, 23680767, 33111339)
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	RCV000157119	SCV000322847	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research	1/96 normolipidaemic Portuguese controls
Illumina Laboratory Services, Illumina	RCV000157119	SCV000427053	likely benign	Hypercholesterolemia, familial, 1	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000181039	SCV000538311	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: 1.9% (122/6498) Finnish chromosomes
Labcorp Genetics (formerly Invitae), Labcorp	RCV001837464	SCV000554839	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	RCV000157119	SCV000588440	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000181039	SCV000740414	likely benign	not specified	2017-07-06	criteria provided, single submitter	clinical testing
Iberoamerican FH Network	RCV000157119	SCV000748125	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
Robarts Research Institute, Western University	RCV000157119	SCV000782873	likely benign	Hypercholesterolemia, familial, 1	2018-01-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776056	SCV000910691	benign	Familial hypercholesterolemia	2018-03-07	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000471850	SCV001133414	benign	not provided	2018-12-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000471850	SCV001152145	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	APOB: PM4:Supporting, BS2
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262209	SCV001439996	likely benign	Hypercholesterolemia, autosomal dominant, type B	2019-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362835	SCV002662183	benign	Cardiovascular phenotype	2017-05-09	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	RCV000471850	SCV004564135	likely benign	not provided	2023-09-29	criteria provided, single submitter	clinical testing
GENinCode PLC	RCV000776056	SCV005074052	benign	Familial hypercholesterolemia	2023-12-19	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000157119	SCV000206842	uncertain significance	Hypercholesterolemia, familial, 1	2014-10-07	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535019	SCV004728672	likely benign	APOB-related disorder	2019-11-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).