ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.377T>C (p.Phe126Ser) (rs879254502)

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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 RCV000417250 SCV000503149 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 4 , family member = 1 with co-segregation / Software predictions: Damaging
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000417250 SCV000583668 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing

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