ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2868G>A (p.Thr956=)

gnomAD frequency: 0.00003  dbSNP: rs533238588
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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 RCV002168000 SCV002348985 likely benign not provided 2023-06-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507873 SCV002795726 likely benign Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2021-12-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453988 SCV004177357 likely benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456275 SCV004177358 likely benign Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453990 SCV004177359 likely benign Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453989 SCV004177361 likely benign Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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