ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.682_683insGACAAATCTGAG (p.Glu228delinsGlyGlnIleTer)

dbSNP: rs879254641
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508721 SCV000606200 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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