ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3122-6G>A

dbSNP: rs72653071
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242365 SCV000303939 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000262448 SCV000427119 uncertain significance Familial hypobetalipoproteinemia 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 Laboratory Services, Illumina RCV001094701 SCV000427120 uncertain significance Hypercholesterolemia, autosomal dominant, type B 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.
GeneDx RCV001697716 SCV000716376 likely benign not provided 2020-07-08 criteria provided, single submitter clinical testing
Invitae RCV001837801 SCV000777104 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-30 criteria provided, single submitter clinical testing
Robarts Research Institute, Western University RCV000315903 SCV000782838 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001697716 SCV002498529 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing APOB: BP4, BS1
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001697716 SCV004221887 likely benign not provided 2023-06-26 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001697716 SCV001925256 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001697716 SCV001966620 likely benign not provided no assertion criteria provided clinical testing

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