ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2427A>G (p.Gln809=)

gnomAD frequency: 0.00002  dbSNP: rs758809077
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822695 SCV002071903 likely benign not specified 2021-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074365 SCV002486256 likely benign not provided 2024-08-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451959 SCV004177299 likely benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451962 SCV004177300 likely benign Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451961 SCV004177301 likely benign Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451960 SCV004177302 likely benign Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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