ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.136T>G (p.Cys46Gly)

dbSNP: rs879254415
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238380 SCV000294477 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000238380 SCV000583634 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing ACMG Guidelines: Likely Pathogenic (ii)
Genetics and Molecular Pathology, SA Pathology RCV000238380 SCV002556602 likely pathogenic Hypercholesterolemia, familial, 1 2021-07-07 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238380 SCV000606023 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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