ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.724C>T (p.Gln242Ter) (rs879254658)

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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 RCV000237860 SCV000294941 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237860 SCV000583732 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237860 SCV000599346 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation

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