ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.-13A>G (rs376011618)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237905 SCV000294403 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237905 SCV000322869 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles
Color RCV001186035 SCV001352365 likely benign Familial hypercholesterolemia 2017-09-18 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237905 SCV000605989 uncertain significance Familial hypercholesterolemia 1 no assertion criteria provided research

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