ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.409G>T (p.Gly137Cys)

dbSNP: rs730882082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237998 SCV000294691 likely 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 RCV000237998 SCV000503152 likely pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 2 , family members = 2 with co-segregation / Software predictions: Conflicting
All of Us Research Program, National Institutes of Health RCV000237998 SCV004843060 uncertain significance Hypercholesterolemia, familial, 1 2023-11-30 criteria provided, single submitter clinical testing

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