ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.503A>C (p.Asp168Ala) (rs879254549)

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Total submissions: 2
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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 RCV000417341 SCV000503171 likely pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 2 , family member = 1 with co-segregation / other mutation at same codon / Software predictions: Damaging
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000417341 SCV000588504 likely pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research

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