ClinVar Miner

Submissions for variant NM_002389.4(CD46):c.604C>T (p.Leu202Phe) (rs750324925)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000735651 SCV000863791 likely pathogenic Atypical hemolytic-uremic syndrome 2 2017-12-28 no assertion criteria provided clinical testing

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