ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)

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Total submissions: 3
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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 RCV000256319 SCV000322841 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 0/176 non-FH alleles
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000256319 SCV000588430 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV001177297 SCV001341473 uncertain significance Familial hypercholesterolemia 2018-11-21 criteria provided, single submitter clinical testing

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