ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.318T>C (p.Tyr106=)

dbSNP: rs1448752091
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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 RCV002177314 SCV002350436 likely benign not provided 2022-06-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486816 SCV002804166 likely benign Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2022-04-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453991 SCV004180680 likely benign Hemolytic uremic syndrome, atypical, susceptibility to, 1 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456276 SCV004180681 likely benign Age related macular degeneration 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453993 SCV004180682 likely benign Basal laminar drusen 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453992 SCV004180683 likely benign Factor H deficiency 2023-04-11 criteria provided, single submitter clinical testing

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