ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.807T>C (p.Asn269=)

gnomAD frequency: 0.00004  dbSNP: rs757654697
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002078406 SCV002373926 likely benign not provided 2021-09-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494151 SCV002801259 likely benign Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2022-05-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454003 SCV004180757 benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456277 SCV004180758 benign Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454005 SCV004180759 benign Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454004 SCV004180760 benign Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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