ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.535G>T (p.Glu179Ter)

dbSNP: rs879254567
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237225 SCV000294782 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000237225 SCV000503177 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 3 , family members = 3 with co-segregation
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237225 SCV000583699 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Iberoamerican FH Network RCV000237225 SCV000748165 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV003480569 SCV004227675 pathogenic not provided 2022-07-06 criteria provided, single submitter clinical testing PM2_supporting, PS4_moderate, PVS1

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