ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.245-17T>A

gnomAD frequency: 0.00006  dbSNP: rs775088366
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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 RCV001468334 SCV001672375 likely benign not provided 2022-02-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501621 SCV002813567 likely benign Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-11-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446766 SCV004172469 likely benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446769 SCV004172470 likely benign Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446768 SCV004172471 likely benign Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446767 SCV004172472 likely benign Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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