ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13126C>T (p.Gln4376Ter)

dbSNP: rs1553382326
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223854 SCV002503015 uncertain significance not provided 2021-11-21 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508726 SCV000605948 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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