ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1706-55A>C

gnomAD frequency: 0.65266  dbSNP: rs2738447
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV000508692 SCV001738021 benign Hypercholesterolemia, familial, 1 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717643 SCV005312107 benign not provided criteria provided, single submitter not provided
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508692 SCV000606492 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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