Submissions for variant NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp)

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Total submissions: 9

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics,PreventionGenetics	RCV000244945	SCV000303948	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001094685	SCV000427042	likely benign	Familial hypercholesterolemia 2	2018-04-16	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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000423058	SCV000511852	benign	not provided	2017-01-23	criteria provided, single submitter	clinical testing
Invitae	RCV001080002	SCV000554825	benign	Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1	2019-12-31	criteria provided, single submitter	clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000281029	SCV000588444	uncertain significance	Familial hypercholesterolemia 1	2016-03-01	criteria provided, single submitter	research
GeneDx	RCV000244945	SCV000730568	benign	not specified	2018-01-04	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.
Robarts Research Institute,Western University	RCV000281029	SCV000782881	uncertain significance	Familial hypercholesterolemia 1	2018-01-02	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000423058	SCV000888791	benign	not provided	2018-06-29	criteria provided, single submitter	clinical testing
Color	RCV000776047	SCV000910656	benign	Familial hypercholesterolemia	2017-07-07	criteria provided, single submitter	clinical testing

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