ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2079G>A (p.Lys693=)

dbSNP: rs551528700
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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 RCV000495908 SCV000583927 likely pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766786 SCV004664049 likely benign Familial hypercholesterolemia 2023-05-20 criteria provided, single submitter clinical testing

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