ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.363C>G (p.Cys121Trp)

dbSNP: rs1555803191
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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 RCV000508699 SCV000606097 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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