ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.818-3C>G

dbSNP: rs886039831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256323 SCV000322916 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000256323 SCV000606236 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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