ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.407A>T (p.Asp136Val)

dbSNP: rs879254516
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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 RCV000238335 SCV000294689 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 RCV000238335 SCV000503151 likely pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 / Software predictions: Damaging
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238335 SCV000599329 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter curation

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