Submissions for variant NM_000384.3(APOB):c.3279C>G (p.Thr1093=)

gnomAD frequency: 0.00163  dbSNP: rs72653075

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001838041	SCV000777046	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-01-24	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000655121	SCV001133403	benign	not provided	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000655121	SCV001789958	likely benign	not provided	2021-05-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30333156)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000655121	SCV002048318	benign	not provided	2021-05-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002325327	SCV002611086	likely benign	Cardiovascular phenotype	2017-03-09	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	RCV001701148	SCV001920560	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000655121	SCV001963506	likely benign	not provided		no assertion criteria provided	clinical testing