ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2297C>T (p.Thr766Ile)

dbSNP: rs879255173
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237943 SCV000295937 uncertain significance Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Fulgent Genetics, Fulgent Genetics RCV000237943 SCV002780233 uncertain significance Hypercholesterolemia, familial, 1 2021-07-14 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237943 SCV000606628 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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