ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1099_1104delinsGT (p.Leu367fs)

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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 RCV000238107 SCV000295218 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000238107 SCV000583787 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000238107 SCV000987586 pathogenic Hypercholesterolemia, familial, 1 criteria provided, single submitter clinical testing

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