ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11854C>T (p.Arg3952Cys)

gnomAD frequency: 0.00001  dbSNP: rs535121944
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003766886 SCV004568161 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-08-29 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508830 SCV000605952 benign not specified no assertion criteria provided research

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