ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.967G>A (p.Gly323Ser) (rs373869746)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148589 SCV000190303 uncertain significance Hypercholesterolaemia 2014-06-01 no assertion criteria provided research
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000238216 SCV000503269 likely pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 / Software predictions: Damaging
LDLR-LOVD, British Heart Foundation RCV000238216 SCV000295115 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only

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