ClinVar Miner

Submissions for variant NM_000064.4(C3):c.3281C>T (p.Ala1094Val)

dbSNP: rs121909584
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018590 SCV000038873 risk factor Atypical hemolytic-uremic syndrome with C3 anomaly 2008-12-15 no assertion criteria provided literature only

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