ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3607C>T (p.Arg1203Trp)

gnomAD frequency: 0.00013  dbSNP: rs145347741
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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 RCV001508945 SCV001715388 uncertain significance not provided 2020-03-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005949 SCV005632417 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-05-17 criteria provided, single submitter clinical testing

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