ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202991 SCV000257678 likely benign Familial hypercholesterolemia 1 2015-02-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321016 SCV000427140 likely benign Hypobetalipoproteinemia, familial, 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001094739 SCV000427141 benign Familial hypercholesterolemia 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000202991 SCV000588422 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV001083269 SCV000659273 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000202991 SCV000687216 benign Familial hypercholesterolemia 1 2017-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000610226 SCV000714914 benign not specified 2017-05-04 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 RCV000202991 SCV000782828 likely benign Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759456 SCV000888783 benign not provided 2018-05-08 criteria provided, single submitter clinical testing
Color RCV000771090 SCV000902651 benign Familial hypercholesterolemia 2017-08-04 criteria provided, single submitter clinical testing

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