ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13160A>T (p.Glu4387Val)

gnomAD frequency: 0.00001  dbSNP: rs150412734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute, Western University RCV000408819 SCV000484833 uncertain significance Hypercholesterolemia, familial, 1 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508772 SCV000605943 benign not specified no assertion criteria provided research

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