ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3341C>T (p.Pro1114Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005005528 SCV005632793 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2023-12-27 criteria provided, single submitter clinical testing

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