ClinVar Miner

Submissions for variant NM_000204.4(CFI):c.782G>A (p.Gly261Asp) (rs112534524)

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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 RCV000339056 SCV000446883 likely benign Atypical hemolytic uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000892174 SCV001036036 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing
GeneReviews RCV000055784 SCV000086750 pathologic Atypical hemolytic-uremic syndrome 3 2013-08-08 no assertion criteria provided curation Converted during submission to Pathogenic.

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