ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1778del (p.Gly593fs)

dbSNP: rs875989931
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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 RCV000237597 SCV000295650 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 RCV000237597 SCV000503413 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 / FH-Sassari-1
Fundacion Hipercolesterolemia Familiar RCV000237597 SCV000607639 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Iberoamerican FH Network RCV000237597 SCV000748153 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences RCV000237597 SCV001467726 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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