ClinVar Miner

Submissions for variant NM_000064.4(C3):c.2450T>A (p.Val817Glu)

gnomAD frequency: 0.00001  dbSNP: rs886054653
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000261528 SCV000415008 uncertain significance C3 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333034 SCV000415009 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389867 SCV000415010 uncertain significance Atypical hemolytic-uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing

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