ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2260A>G (p.Lys754Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV003481553 SCV004224715 uncertain significance not provided 2022-12-20 criteria provided, single submitter clinical testing BP4
Fulgent Genetics, Fulgent Genetics RCV005003650 SCV005631972 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-01-05 criteria provided, single submitter clinical testing

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