ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.680A>G (p.Asp227Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences RCV002293964 SCV002583582 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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