ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu)

gnomAD frequency: 0.00025  dbSNP: rs62625015
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508942 SCV001715384 uncertain significance not provided 2020-12-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294464 SCV002587647 uncertain significance Atypical hemolytic-uremic syndrome 2021-02-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451778 SCV004177443 uncertain significance Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456238 SCV004177444 uncertain significance Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451780 SCV004177445 uncertain significance Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451779 SCV004177446 uncertain significance Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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