ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.351C>T (p.His117=)

gnomAD frequency: 0.00005  dbSNP: rs200258458
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000775601 SCV000752448 likely benign Familial hypercholesterolemia 2024-01-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775601 SCV000909965 likely benign Familial hypercholesterolemia 2018-07-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000508891 SCV004820154 likely benign Hypercholesterolemia, familial, 1 2023-11-30 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508891 SCV000606096 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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