ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.722T>G (p.Phe241Cys)

dbSNP: rs748131256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV000508975 SCV005426468 uncertain significance Hypercholesterolemia, familial, 1 2024-08-06 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508975 SCV000606211 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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