ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5768A>G (p.His1923Arg)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116387 SCV000150311 benign not specified 2019-02-11 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000202968 SCV000257684 benign Familial hypercholesterolemia 1 2015-02-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116387 SCV000303944 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000202968 SCV000322846 likely benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 4/101 non-FH individuals
Illumina Clinical Services Laboratory,Illumina RCV001094697 SCV000427062 likely benign Familial hypercholesterolemia 2 2017-04-27 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000458118 SCV000554797 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2020-12-06 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000202968 SCV000588439 likely benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color Health, Inc RCV000202968 SCV000687250 benign Familial hypercholesterolemia 1 2017-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000116387 SCV000729894 benign not specified 2017-06-06 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.
Color Health, Inc RCV000771060 SCV000902571 benign Familial hypercholesterolemia 2017-07-25 criteria provided, single submitter clinical testing

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