ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.245-9dup

dbSNP: rs35507625
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002187708 SCV002342387 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494081 SCV002801793 likely benign Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-12-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447004 SCV004172451 benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447007 SCV004172452 benign Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447006 SCV004172453 benign Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447005 SCV004172454 benign Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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