ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.314-1G>T

dbSNP: rs879254471
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Total submissions: 1
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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 RCV000495941 SCV000583659 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing

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