ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.2027G>A (p.Gly676Glu)

dbSNP: rs1558178947
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005004389 SCV005630047 uncertain significance Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 2024-03-09 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722277 SCV000853408 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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