ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.59-36C>T

gnomAD frequency: 0.40527  dbSNP: rs551397
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001579002 SCV001806386 benign Basal laminar drusen 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579003 SCV001806387 benign Factor H deficiency 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579189 SCV001806628 benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579190 SCV001806629 benign Age related macular degeneration 4 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001655911 SCV001863031 benign not provided 2021-05-10 criteria provided, single submitter clinical testing

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