ClinVar Miner

Submissions for variant NM_001710.5(CFB):c.1143C>T (p.Arg381=) (rs150920440)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513455 SCV000609195 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272516 SCV000462041 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327615 SCV000462042 likely benign Atypical hemolytic uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272516 SCV000484233 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285597 SCV000484234 likely benign Complement component 2 deficiency 2016-06-14 criteria provided, single submitter clinical testing

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