ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1495T>C (p.Ser499Pro) (rs879254921)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000237577 SCV000503358 likely pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 5 , family members = 3 with co-segregation/Software predictions: Conflicting
LDLR-LOVD, British Heart Foundation RCV000237577 SCV000295467 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000237577 SCV000987517 likely pathogenic Familial hypercholesterolemia criteria provided, single submitter clinical testing
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237577 SCV000583838 pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing

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