ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.417C>T (p.Asp139=)

gnomAD frequency: 0.00003  dbSNP: rs537484504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001500585 SCV001705377 likely benign Familial hypercholesterolemia 2023-11-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000508864 SCV004820164 likely benign Hypercholesterolemia, familial, 1 2023-04-10 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508864 SCV000606110 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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