ClinVar Miner

Submissions for variant NM_001710.5(CFB):c.1524C>T (p.His508=) (rs138207668)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000303114 SCV000462051 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405956 SCV000462052 likely benign Atypical hemolytic uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303114 SCV000484237 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346187 SCV000484238 likely benign Complement component 2 deficiency 2016-06-14 criteria provided, single submitter clinical testing

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