ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2786dup (p.Arg931fs)

dbSNP: rs1553385404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003311833 SCV004011126 pathogenic not provided 2023-05-01 criteria provided, single submitter clinical testing APOB: PVS1, PM2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508925 SCV000605976 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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