ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.878A>G (p.Gln293Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003421326 SCV004125148 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing CFH: PM2, BP4
Fulgent Genetics, Fulgent Genetics RCV005012944 SCV005629275 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-06-17 criteria provided, single submitter clinical testing

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