ClinVar Miner

Submissions for variant NM_000186.4(CFH):c.1204= (p.His402=)

gnomAD frequency: 0.36375  dbSNP: rs1061170
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018015 SCV000038294 risk factor Age related macular degeneration 4 2019-06-11 no assertion criteria provided literature only
OMIM RCV000018016 SCV000038295 pathogenic Basal laminar drusen 2011-10-15 no assertion criteria provided literature only

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