ClinVar Miner

Submissions for variant NM_001710.5(CFB):c.1407C>G (p.Ile469Met) (rs201798809)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000278683 SCV000462047 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335942 SCV000462048 likely benign Atypical hemolytic uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000408756 SCV000484915 uncertain significance Atypical hemolytic-uremic syndrome 4 no assertion criteria provided clinical testing

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