ClinVar Miner

Submissions for variant c.(817+1_818-1)_(1186+1_1187-1)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238351 SCV000294995 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238351 SCV000599349 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter curation

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