ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2821G>T (p.Val941Phe)

gnomAD frequency: 0.00039  dbSNP: rs529491401
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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 RCV002124593 SCV002401516 benign not provided 2024-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494283 SCV002799142 likely benign Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-09-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454007 SCV004177353 likely benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456280 SCV004177354 likely benign Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454009 SCV004177355 likely benign Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454008 SCV004177356 likely benign Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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