ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1470+15T>C

gnomAD frequency: 0.00078  dbSNP: rs185550846
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256292 SCV000322832 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV000302664 SCV000427154 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000256292 SCV000427155 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001705404 SCV000714423 likely benign not provided 2018-05-15 criteria provided, single submitter clinical testing
Iberoamerican FH Network RCV000256292 SCV000748121 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Robarts Research Institute, Western University RCV000256292 SCV000782818 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Invitae RCV002059061 SCV002402761 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004525912 SCV005040478 benign not specified 2024-03-01 criteria provided, single submitter clinical testing

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