ClinVar Miner

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

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 RCV002107555 SCV002398627 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494220 SCV002797409 likely benign Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-07-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447020 SCV004172464 benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447023 SCV004172465 benign Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447022 SCV004172466 benign Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003447021 SCV004172467 benign Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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