Submissions for variant NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics,PreventionGenetics	RCV000116388	SCV000303946	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000392137	SCV000427047	likely benign	Familial hypercholesterolemia 1	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000283635	SCV000427048	likely benign	Familial hypobetalipoproteinemia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000116388	SCV000519284	benign	not specified	2016-10-07	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.
Invitae	RCV000655178	SCV000777103	benign	Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1	2020-12-06	criteria provided, single submitter	clinical testing
Color Health, Inc	RCV000771028	SCV000902524	benign	Familial hypercholesterolemia	2020-03-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116388	SCV000150312	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.