ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1359-31G>A

gnomAD frequency: 0.00006  dbSNP: rs369781605
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001525354 SCV001735428 likely benign Familial hypercholesterolemia 2020-12-01 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508786 SCV000606407 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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