Submissions for variant NM_000384.3(APOB):c.2853G>A (p.Glu951=)

gnomAD frequency: 0.00031  dbSNP: rs151193347

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000327272	SCV000427126	uncertain significance	Familial hypobetalipoproteinemia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000384191	SCV000427127	uncertain significance	Hypercholesterolemia, familial, 1	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV001837871	SCV000554807	likely benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-01-20	criteria provided, single submitter	clinical testing
Fundacion Hipercolesterolemia Familiar	RCV000384191	SCV000607379	uncertain significance	Hypercholesterolemia, familial, 1	2016-03-01	criteria provided, single submitter	research
GeneDx	RCV000839705	SCV000981609	likely benign	not provided	2020-03-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28475941)
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000839705	SCV001133401	likely benign	not provided	2019-01-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000839705	SCV001152165	likely benign	not provided	2021-07-01	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV001256903	SCV001433404	likely benign	not specified	2020-03-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436195	SCV002752746	likely benign	Cardiovascular phenotype	2018-11-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Clinical Genetics, Academic Medical Center	RCV001256903	SCV001917886	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000839705	SCV001962882	likely benign	not provided		no assertion criteria provided	clinical testing