ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5238T>G (p.Tyr1746Ter)

dbSNP: rs1553383898
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508719 SCV000605971 pathogenic Familial hypobetalipoproteinemia no assertion criteria provided research

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