ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.666C>G (p.Cys222Trp)

dbSNP: rs756613387
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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 RCV000237365 SCV000294874 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237365 SCV000322909 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles
Iberoamerican FH Network RCV000237365 SCV000748134 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research

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