ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.922G>A (p.Glu308Lys)

dbSNP: rs879254721
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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 RCV000237337 SCV000295059 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II RCV000237337 SCV001653612 likely pathogenic Hypercholesterolemia, familial, 1 2021-05-24 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237337 SCV000606270 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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