ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) (rs61743502)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079989 SCV000284760 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2020-12-02 criteria provided, single submitter clinical testing
Color Health, Inc RCV000584100 SCV000687200 likely benign Familial hypercholesterolemia 1 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000758755 SCV000729915 likely benign not provided 2020-11-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30270084, 18710658, 26415676, 27153395, 33111339)
Robarts Research Institute,Western University RCV000584100 SCV000782809 benign Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758755 SCV000887570 benign not provided 2018-05-19 criteria provided, single submitter clinical testing
Color Health, Inc RCV000771081 SCV000902619 likely benign Familial hypercholesterolemia 2018-06-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000758755 SCV001152106 likely benign not provided 2020-11-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001138999 SCV001299102 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001139000 SCV001299103 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000758755 SCV001740848 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000606261 SCV001925553 benign not specified no assertion criteria provided clinical testing

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