ClinVar Miner

Submissions for variant NM_174936.3(PCSK9):c.-861G>A

gnomAD frequency: 0.65880  dbSNP: rs2479409
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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 RCV000508949 SCV000690953 benign Hypercholesterolemia, familial, 1 2017-08-23 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508949 SCV000606669 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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