ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2609G>A (p.Cys870Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003991386 SCV004808715 likely pathogenic Hemolytic uremic syndrome, atypical, susceptibility to, 1 2021-12-22 criteria provided, single submitter clinical testing ACMG Criteria: PM1_STR, PM2_SUP, PM5, PP3, PP4

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