ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.67+2015G>T

gnomAD frequency: 0.11675  dbSNP: rs6511720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238585 SCV000294430 benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV001512649 SCV001720101 benign Familial hypercholesterolemia 2025-01-27 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238585 SCV000606000 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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