ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1124A>G (p.Tyr375Cys) (rs879254800)

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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 RCV000237921 SCV000295235 likely pathogenic Familial hypercholesterolemia 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 RCV000237921 SCV000503302 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 3 , family members = 4 with co-segregation / previously described in association with FH / Software predictions: Damaging
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237921 SCV000583792 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000237921 SCV000607561 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Fulgent Genetics,Fulgent Genetics RCV000237921 SCV000894173 pathogenic Familial hypercholesterolemia 1 2018-10-31 criteria provided, single submitter clinical testing

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