ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1357A>T (p.Ile453Leu)

gnomAD frequency: 0.00001  dbSNP: rs1450633243
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
John Atkinson Laboratory, Washington University School of Medicine in St. Louis RCV001849196 SCV001905512 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly 2014-06-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496007 SCV002793478 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451844 SCV004180783 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451847 SCV004180784 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451846 SCV004180785 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451845 SCV004180786 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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