ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.417C>A (p.Asp139Glu)

dbSNP: rs537484504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000495923 SCV000583673 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000495923 SCV001429459 pathogenic Hypercholesterolemia, familial, 1 2018-08-21 criteria provided, single submitter clinical testing

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