ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1503G>A (p.Ala501=) (rs368889457)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237830 SCV000295473 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237830 SCV000583840 likely pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing

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