ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.137G>C (p.Cys46Ser) (rs121908041)

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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 RCV000003940 SCV000294480 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000003940 SCV000599314 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
OMIM RCV000003940 SCV000024105 pathogenic Familial hypercholesterolemia 1 2001-04-01 no assertion criteria provided literature only

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