ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.4G>A (p.Gly2Arg)

dbSNP: rs5931
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel RCV000238070 SCV002506406 uncertain significance Hypercholesterolemia, familial, 1 2022-03-08 reviewed by expert panel curation NM_000527.5(LDLR):c.4G>A (p.Gly2Arg) variant is classified as uncertain significance - insufficient evidence for Familial Hypercholesterolemia by applying evidence code PM2 as defined by the ClinGen Familial Hypercholesterolemia Expert Panel LDLR-specific variant curation guidelines ( The supporting evidence is as follows: PM2 - Variant is absent from gnomAD (gnomAD v2.1.1).
LDLR-LOVD, British Heart Foundation RCV000238070 SCV000294409 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238070 SCV000605994 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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