ClinVar Miner

Submissions for variant NM_000204.4(CFI):c.916A>G (p.Ile306Val) (rs113273712)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000407153 SCV000446878 likely benign Atypical hemolytic uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000736085 SCV000864351 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing BP4, BP6; This alteration is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).

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